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Lista de obras de André Reis

50 Jahre Humangenetik in Erlangen

7 Mb de novo deletion within 8q21 in a patient with distal arthrogryposis type 2B (DA2B).

artículo científico publicado en 2011

A European study on the genetics of mite sensitization

article

A Genome-wide Search for Linkage to Asthma22See the Appendix

artículo científico publicado en 1999

A Homozygous Mutation in GPT2 Associated with Nonsyndromic Intellectual Disability in a Consanguineous Family from Costa Rica

artículo científico publicado en 2017

A YAC contig spanning the nevoid basal cell carcinoma syndrome, Fanconi anaemia group C, and xeroderma pigmentosum group A loci on chromosome 9q.

artículo científico publicado en 1994

A biallelic truncating AEBP1 variant causes connective tissue disorder in two siblings

scientific article published on 11 December 2018

A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome

artículo científico publicado en 2015

A comprehensive linkage analysis for myocardial infarction and its related risk factors

artículo científico publicado en 2002

A de novo 7.6Mb tandem duplication of 14q32.2-qter associated with primordial short stature with neurosecretory growth hormone dysfunction, distinct facial anomalies and mild developmental delay.

artículo científico publicado en 2008

A defect of CD16-positive monocytes can occur without disease

artículo científico publicado en 2012

A dual phenotype of periventricular nodular heterotopia and frontometaphyseal dysplasia in one patient caused by a single FLNA mutation leading to two functionally different aberrant transcripts

artículo científico publicado en 2004

A gene for an autosomal dominant scleroatrophic syndrome predisposing to skin cancer (Huriez syndrome) maps to chromosome 4q23

artículo científico publicado en 2000

A gene for hypotrichosis simplex of the scalp maps to chromosome 6p21.3.

artículo científico publicado en 2000

A genome wide search for susceptibility loci in three European malignant hyperthermia pedigrees

artículo científico publicado en 1997

A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.

artículo científico publicado en 2010

A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions

artículo científico publicado en 2003

A major susceptibility locus for atopic dermatitis maps to chromosome 3q21.

artículo científico publicado en 2000

A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype

artículo científico publicado en 2013

A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP.

artículo científico publicado en 2003

A novel 5q35.3 subtelomeric deletion syndrome.

artículo científico publicado en 2003

A novel form of "central pouchlike" cataract, with sutural opacities, maps to chromosome 15q21-22.

artículo científico publicado en 2000

A novel in situ method for the detection of deficient transglutaminase activity in the skin

scientific article published on 01 November 1998

A novel locus for arterial hypertension on chromosome 1p36 maps to a metabolic syndrome trait cluster in the Sorbs, a Slavic population isolate in Germany.

artículo científico publicado en 2009

A novel mutation and novel features in Nijmegen breakage syndrome

artículo científico publicado en 2001

A recessive form of extreme macrocephaly and mild intellectual disability complements the spectrum of PTEN hamartoma tumour syndrome

artículo científico publicado en 2015

A second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3.

artículo científico publicado en 2000

A unique form of autosomal dominant cataract explained by gene conversion between beta-crystallin B2 and its pseudogene

artículo científico publicado en 2001

AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability

artículo científico publicado en 2017

Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature

artículo científico publicado en 2011

Addition of triple negativity of breast cancer as an indicator for germline mutations in predisposing genes increases sensitivity of clinical selection criteria

article

Aey2, a new mutation in the betaB2-crystallin-encoding gene of the mouse

artículo científico publicado en 2001

Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome

artículo científico publicado en 2004

Altered GPM6A/M6 dosage impairs cognition and causes phenotypes responsive to cholesterol in human and Drosophila

artículo científico publicado en 2014

Amelogenesis imperfecta in a new animal model--a mutation in chromosome 5 (human 4q21)

scientific journal article

Analyses of association of psoriatic arthritis and psoriasis vulgaris with functional NCF1 variants

scientific article published on 01 May 2019

Apolipoprotein E genotypes in pseudoexfoliation syndrome and pseudoexfoliation glaucoma

artículo científico publicado en 2010

Assessment of association between variants and haplotypes of the remaining TBX1 gene and manifestations of congenital heart defects in 22q11.2 deletion patients

artículo científico publicado en 2004

Assignment of PGL3 to chromosome 1 (q21-q23) in a family with autosomal dominant non-chromaffin paraganglioma

artículo científico publicado en 2001

Assignment of the Gene for a New Hereditary Nail Disorder, Isolated Congenital Nail Dysplasia, to Chromosome 17p13

article

Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study ⬇️

artículo científico publicado en 2017

Association analysis of psoriasis vulgaris and psoriatic arthritis with loss-of-function mutations in IL36RN in German patients.

artículo científico publicado en 2016

Association between protein tyrosine phosphatase 22 variant R620W in conjunction with the HLA-DRB1 shared epitope and humoral autoimmunity to an immunodominant epitope of cartilage-specific type II collagen in early rheumatoid arthritis

artículo científico publicado en 2006

Association of β-defensin copy number and psoriasis in three cohorts of European origin.

artículo científico publicado en 2012

Association scan of the novel psoriasis susceptibility region on chromosome 19: evidence for both susceptible and protective loci

article

Astrogenesis in the murine dentate gyrus is a life‐long and dynamic process

artículo científico publicado en 2022

Atypical clinical picture of the Nijmegen breakage syndrome associated with developmental abnormalities of the brain

artículo científico publicado en 2001

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

artículo científico publicado en 2019

Autosomal dominant spastic paraplegia with anticipation maps to a 4-cM interval on chromosome 2p21-p24 in a large German family

article

Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8.

artículo científico publicado en 2015

Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly

artículo científico publicado en 2016

Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly

artículo científico publicado en 2016

BDV Syndrome: an Emerging Syndrome With Profound Obesity and Neurodevelopmental Delay Resembling Prader-Willi Syndrome

artículo científico publicado en 2021

BRCA mutations and their influence on pathological complete response and prognosis in a clinical cohort of neoadjuvantly treated breast cancer patients

article by Marius Wunderle et al published 3 May 2018 in Breast Cancer Research and Treatment

Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition

artículo científico publicado en 2016

Band-specific localization of the microsatellite at D13S71 by microdissection and enzymatic amplification.

artículo científico publicado en 1992

Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene

artículo científico publicado en 2013

Biallelic Expression of Mucin-1 in Autosomal Dominant Tubulointerstitial Kidney Disease: Implications for Nongenetic Disease Recognition

Biallelic SEMA3A defects cause a novel type of syndromic short stature.

artículo científico publicado en 2013

Biallelic intragenic deletion in MASP1 in an adult female with 3MC syndrome

artículo científico publicado en 2018

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

artículo científico publicado en 2018

CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration

artículo científico publicado en 2014

CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila

artículo científico publicado en 2009

Characterisation of a Xp21 microdeletion syndrome in a 2-year-old boy with muscular dystrophy, glycerol kinase deficiency and adrenal hypoplasia congenita.

artículo científico publicado en 1991

Characterisation of psoriasis susceptibility locus 6 (PSORS6) in patients with early onset psoriasis and evidence for interaction with PSORS1.

artículo científico publicado en 2009

Characterization of a mutation in the lens-specific MP70 encoding gene of the mouse leading to a dominant cataract

artículo científico publicado en 2001

Characterization of a new, dominant V124E mutation in the mouse alphaA-crystallin-encoding gene

scientific journal article

Charcot-Marie-Tooth disease: a novel Tyr145Ser mutation in the myelin protein zero (MPZ, P0) gene causes different phenotypes in homozygous and heterozygous carriers within one family

artículo científico publicado en 2003

Chromatin-Remodeling-Factor ARID1B Represses Wnt/β-Catenin Signaling

artículo científico publicado en 2015

Clinical and electrophysiological characteristics of autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2B) that maps to chromosome 19q13.3

Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations

artículo científico publicado en 2000

Clinical presentation and mutation identification in the NBS1 gene in a boy with Nijmegen breakage syndrome.

artículo científico publicado en 2000

Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature.

artículo científico publicado en 2017

Clinical validation of genetic variants associated with in vitro chemotherapy-related lymphoblastoid cell toxicity

artículo científico publicado en 2017

Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotype.

artículo científico publicado en 2010

Cloning and sequence analysis of the human parathyroid hormone gene region

article

Cloning of the mouse dysferlin gene and genomic characterization of the SJL-Dysf mutation

artículo científico publicado en 2001

Close mapping of the focal non-epidermolytic palmoplantar keratoderma (PPK) locus associated with oesophageal cancer (TOC)

artículo científico publicado en 1996

Common genetic determinants of intraocular pressure and primary open-angle glaucoma

artículo científico publicado en 2012

Common genetic variants associated with open-angle glaucoma

artículo científico publicado en 2011

Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis

scientific journal article

Comparative association analysis reveals that corneodesmosin is more closely associated with psoriasis than HLA-Cw*0602-B*5701 in German families

artículo científico publicado en 2001

Complete basal cell carcinoma remission with imiquimod in a patient with nevoid basal cell carcinoma syndrome and associated basal cell carcinoma of the scalp and invasive ductal breast cancer

artículo científico publicado en 2011

Comprehensive screening for mutations associated with colorectal cancer in unselected cases reveals penetrant and nonpenetrant mutations.

artículo científico publicado en 2014

Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder

artículo científico publicado en 2024

Corrigendum: Dense genotyping of immune-related susceptibility loci reveals new insights into the genetics of psoriatic arthritis ⬇️

artículo científico publicado en 2015

Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

artículo científico publicado en 2017

Corrigendum: a common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome

artículo científico publicado en 2015

Cost-effectiveness of risk-reducing surgeries in preventing hereditary breast and ovarian cancer

artículo científico publicado en 2017

Currarino-Syndrom: Variabilität der bildgebenden Befunde bei 22 molekulargenetisch identifizierten (HLXB9-Mutation) Patienten aus fünf Familien

artículo científico publicado en 2004

DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects

scientific journal article

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder

artículo científico publicado en 2018

De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females

artículo científico publicado en 2015

De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation

artículo científico publicado en 2018

De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.

artículo científico publicado en 2014

De novo mutations in the genome organizer CTCF cause intellectual disability.

artículo científico publicado en 2013

De novo triplication of theMAPTgene from the recurrent 17q21.31 microdeletion region in a patient with moderate intellectual disability and various minor anomalies

artículo científico publicado en 2012

Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)

artículo científico publicado en 2005

Deletion of LCE3C and LCE3B genes at PSORS4 does not contribute to susceptibility to psoriatic arthritis in German patients

artículo científico publicado en 2009

Deletion of LCE3C and LCE3B is a susceptibility factor for psoriatic arthritis: a study in Spanish and Italian populations and meta-analysis

artículo científico publicado en 2011

Deletions in the 3' part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome

artículo científico publicado en 2014

Dense genotyping of immune-related susceptibility loci reveals new insights into the genetics of psoriatic arthritis

artículo científico publicado en 2015

Determinants Affecting the Clinical Implementation of a Molecularly Informed Molecular Tumor Board Recommendation: Experience from a Tertiary Cancer Center

artículo científico publicado en 2023

Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.

artículo científico publicado en 2017

Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation.

artículo científico publicado en 2006

Diaphragmatic spinal muscular atrophy with respiratory distress is heterogeneous, and one form Is linked to chromosome 11q13-q21.

artículo científico publicado en 1999

Different mechanisms and recurrence risks of imprinting defects in Angelman syndrome.

artículo científico publicado en 1997

Dinucleotide repeat polymorphism at the locus D13S231.

artículo científico publicado en 1993

Disease burden and risk profile in referred patients with moderate chronic kidney disease: composition of the German Chronic Kidney Disease (GCKD) cohort

article

Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome-like phenotype and hyperactivated MAPK signaling in humans and mice

artículo científico publicado en 2011

Dissecting TSC2-mutated renal and hepatic angiomyolipomas in an individual with ARID1B-associated intellectual disability

Distribution patterns of the delta F508 mutation in the CFTR gene of CF-linked marker haplotypes in the German population

artículo científico publicado en 1990

Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum

artículo científico publicado en 2010

Divergent genetic and epigenetic post-zygotic isolation mechanisms in Mus and Peromyscus.

artículo científico publicado en 2004

Do the exome: A case of Williams-Beuren syndrome with severe epilepsy due to a truncating de novo variant in GABRA1.

artículo científico publicado en 2016

Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B

article

Ectopic transcription of the parathyroid hormone gene in lymphocytes, lymphoblastoid cells and tumour tissue

artículo científico publicado en 1992

Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum

artículo científico publicado en 2016

Enhanced meta-analysis and replication studies identify five new psoriasis susceptibility loci

artículo científico publicado en 2015

Environmental trichlorfon and cluster of congenital abnormalities.

artículo científico publicado en 1993

Envoplakin, a possible candidate gene for focal NEPPK/esophageal cancer (TOC): the integration of genetic and physical maps of the TOC region on 17q25.

artículo científico publicado en 1999

Epidermolytic palmoplantar keratoderma of Vörner: re-evaluation of Vörner's original family and identification of a novel keratin 9 mutation

Epigenetic targeting in the mouse zygote marks DNA for later methylation: a mechanism for maternal effects in development

artículo científico publicado en 2001

Erratum: Corrigendum: Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)

scholarly article published in Nature Genetics

Ethylnitrosourea-induced mutation in mice leads to the expression of a novel protein in the eye and to dominant cataracts.

artículo científico publicado en 2001

Evaluation of a putative major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q14

Evaluation of a putative major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q14.

artículo científico publicado en 1999

Evaluation of conserved and ultra-conserved non-genic sequences in chromosome 15q15-linked periodic catatonia.

artículo científico publicado en 2011

Evaluation of risk loci for schizophrenia derived from genome-wide association studies in a German population

artículo científico publicado en 2011

Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma

artículo científico publicado en 2011

Evidence for genetic overlap between adult onset Still's disease and hereditary periodic fever syndromes

artículo científico publicado en 2017

Evidence for susceptibility determinant(s) to psoriasis vulgaris in or near PTPN22 in German patients

artículo científico publicado en 2005

Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature

scientific article published on 26 February 2019

Exclusion of TCOF1 mutations in a case of bilateral Goldenhar syndrome and one familial case of microtia with meatal atresia

scientific article published on 01 April 2005

Exclusion of the neuronal nicotinic acetylcholine receptor alpha7 subunit gene as a candidate for catatonic schizophrenia in a large family supporting the chromosome 15q13-22 locus

artículo científico publicado en 2002

Exome Pool-Seq in neurodevelopmental disorders.

artículo científico publicado en 2017

Exome-wide association study reveals novel psoriasis susceptibility locus at TNFSF15 and rare protective alleles in genes contributing to type I IFN signalling

artículo científico publicado en 2017

Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency

artículo científico publicado en 2016

Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations

artículo científico

Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1

artículo científico publicado en 2011

Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma

artículo científico publicado en 2016

Exploring functional candidate genes for genetic association in german patients with pseudoexfoliation syndrome and pseudoexfoliation glaucoma

artículo científico publicado en 2009

FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum

artículo científico publicado en 2016

Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene

artículo científico publicado en 2000

Familial interstitial 570 kbp deletion of theUBE3Agene region causing Angelman syndrome but not Prader-Willi syndrome

Familial short stature due to a 5q22.1-q23.2 duplication refines the 5q duplication spectrum

artículo científico publicado en 2011

FcgammaRIIa genotype is associated with acute coronary syndromes as first manifestation of coronary artery disease

artículo científico publicado en 2009

Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.

artículo científico publicado en 1998

Fine mapping and single nucleotide polymorphism association results of candidate genes for asthma and related phenotypes.

artículo científico publicado en 2001

First known microdeletion within the Wolf-Hirschhorn syndrome critical region refines genotype-phenotype correlation

artículo científico publicado en 2001

Frequency of the delta F508 mutation and flanking marker haplotypes at the CF locus from 167 Czech families.

artículo científico publicado en 1990

Frequency of the delta-F508 mutation and flanking marker haplotypes at the cystic fibrosis locus from 167 Czech families

scientific article published on 01 January 1991

Functional Characterization of a Novel CFTR Mutation P67S Identified in a Patient with Atypical Cystic Fibrosis

article

Functional characterization of a novel CFTR mutation P67S identified in a patient with atypical cystic fibrosis

artículo científico publicado en 2007

GPFrontend and GPGraphics: graphical analysis tools for genetic association studies

artículo científico publicado en 2010

GSK3ß-dependent dysregulation of neurodevelopment in SPG11-patient iPSC model

scientific article published on 11 March 2016

Gene localization for an autosomal dominant familial periodic fever to 12p13

artículo científico publicado en 1998

Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2.

artículo científico publicado en 2016

Genetic Breast Cancer Susceptibility Variants and Prognosis in the Prospectively Randomized SUCCESS A Study

artículo científico publicado en 2017

Genetic and Clinical Heterogeneity in Transgressive Palmoplantar Keratoderma

artículo científico publicado en 2001

Genetic and immunohistochemical detection of mutations inactivating the keratinocyte transglutaminase in patients with lamellar ichthyosis

artículo científico publicado en 1998

Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.

artículo científico publicado en 2016

Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci.

artículo científico publicado en 2017

Genetic basis and pancreatic biology of Johanson-Blizzard syndrome

artículo científico publicado en 2006

Genetic influences in the formation of nasal polyps

artículo científico publicado en 1991

Genetic regulation of serum phytosterol levels and risk of coronary artery disease

artículo científico publicado en 2010

Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature

artículo científico publicado en 2017

Genetic variants and cellular stressors associated with exfoliation syndrome modulate promoter activity of a lncRNA within the LOXL1 locus

artículo científico publicado en 2015

Genome scan for childhood and adolescent obesity in German families.

artículo científico publicado en 2003

Genome search for susceptibility loci of common idiopathic generalised epilepsies

artículo científico publicado en 2000

Genome-wide Association Analysis of Psoriatic Arthritis and Cutaneous Psoriasis Reveals Differences in Their Genetic Architecture

artículo científico publicado en 2015

Genome-wide association and targeted analysis of copy number variants with psoriatic arthritis in German patients

artículo científico publicado en 2017

Genome-wide association study identifies a new locus for coronary artery disease on chromosome 10p11.23

scholarly article by Jeanette Erdmann et al published 18 November 2010 in European Heart Journal

Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome

artículo científico publicado en 2010

Genome-wide linkage reveals a locus for human essential (primary) hypertension on chromosome 12p

artículo científico publicado en 2003

Genome-wide, large-scale production of mutant mice by ENU mutagenesis.

artículo científico publicado en 2000

Genomewide scan in german families reveals evidence for a novel psoriasis-susceptibility locus on chromosome 19p13.

artículo científico publicado en 2000

Genotype analysis of cystic fibrosis patients in relation to pancreatic sufficiency.

artículo científico publicado en 1990

Genotype-correlated expression of lysyl oxidase-like 1 in ocular tissues of patients with pseudoexfoliation syndrome/glaucoma and normal patients

artículo científico publicado en 2008

Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia

Genotype-phenotype correlations in Noonan syndrome

artículo científico publicado en 2004

Genotype-phenotype correlations in cystic fibrosis patients.

artículo científico publicado en 1991

Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis

artículo científico publicado en 1998

HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders.

artículo científico publicado en 2014

Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability

artículo científico publicado en 2012

Haploinsufficiency of NR4A2 is associated with a neurodevelopmental phenotype with prominent language impairment.

artículo científico publicado en 2017

Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)

artículo científico publicado en 2007

Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

artículo científico publicado en 2017

Hereditary isolated renal magnesium loss maps to chromosome 11q23.

artículo científico publicado en 1999

Hereditary spastic paraplegia caused by mutations in the SPG4 gene

artículo científico publicado en 2000

Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma

artículo científico publicado en 2009

High post surgical opioid requirements in Crohn's disease are not due to a general change in pain sensitivity

artículo científico publicado en 2009

Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity

artículo científico publicado en 2011

Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3-8q22.1: redefining a clinical entity

artículo científico publicado en 2000

Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity

artículo científico publicado en 1999

Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities

artículo científico publicado en 2004

Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive Intellectual Disability and Microcephaly

artículo científico publicado en 2017

Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability

artículo científico publicado en 2013

Identification and localization of a new human myotubularin-related protein gene, mtmr8, on 8p22-p23.

artículo científico publicado en 2001

Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity.

artículo científico publicado en 2012

Identification of ZNF313/RNF114 as a novel psoriasis susceptibility gene

scientific journal article

Identification of a new gene locus for adolescent nephronophthisis, on chromosome 3q22 in a large Venezuelan pedigree

artículo científico publicado en 2000

Identification of low-frequency TRAF3IP2 coding variants in psoriatic arthritis patients and functional characterization

artículo científico publicado en 2012

Identification of mutations in DYNC2LI1, a member of the mammalian cytoplasmic dynein 2 complex, expands the clinical spectrum of Jeune/ATD ciliopathies.

artículo científico publicado en 2015

Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models

artículo científico publicado en 2009

Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models

article

Identification, by homozygosity mapping, of a novel locus for autosomal recessive congenital ichthyosis on chromosome 17p, and evidence for further genetic heterogeneity.

artículo científico publicado en 2001

Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes

artículo científico publicado en 1994

In-Frame Deletion and Missense Mutations of the C-Terminal Helicase Domain of SMARCA2 in Three Patients with Nicolaides-Baraitser Syndrome.

artículo científico publicado en 2012

Inflammation-induced glycolytic switch controls suppressivity of mesenchymal stem cells via STAT1 glycosylation

scientific article published on 24 January 2019

Inhibition of RAS activation due to a homozygous ezrin variant in patients with profound intellectual disability.

artículo científico publicado en 2015

Integrative bioinformatics analysis characterizing the role of EDC3 in mRNA decay and its association to intellectual disability.

artículo científico publicado en 2018

Interleukin-10 promoter polymorphism IL10.G and familial early onset psoriasis

artículo científico publicado en 2003

Investigation of a family with autosomal dominant dilated cardiomyopathy defines a novel locus on chromosome 2q14-q22.

artículo científico publicado en 1999

KIF3A and IL-4 are disease-specific biomarkers for psoriatic arthritis susceptibility

artículo científico publicado en 2017

Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma

artículo científico publicado en 1994

Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK).

artículo científico publicado en 1994

Keratosis palmoplantaris diffusa V�rner Klinische, formalgenetische und molekularbiologische Untersuchungen bei 22?Familien

artículo científico publicado en 1995

Lack of evidence for genetic association to RUNX1 binding site at PSORS2 in different German psoriasis cohorts

artículo científico publicado en 2005

Lack of genetic association of the three more common polymorphisms of CARD15 with psoriatic arthritis and psoriasis in a German cohort

artículo científico publicado en 2004

Large scale meta-analysis characterizes genetic architecture for common psoriasis associated variants

artículo científico publicado en 2017

Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27

artículo científico publicado en 1999

Linkage analysis in German breast cancer families with early onset of the disease, using highly polymorphic markers from the chromosome 17q11-q24 region

artículo científico publicado en 1993

Linkage of familial euthyroid goiter to the multinodular goiter-1 locus and exclusion of the candidate genes thyroglobulin, thyroperoxidase, and Na+/I- symporter

artículo científico publicado en 1999

Linkage of the gene for the triple A syndrome to chromosome 12q13 near the type II keratin gene cluster

artículo científico publicado en 1996

Linkage studies exclude the AT-V gene(s) from the translocation breakpoints in an AT-V patient.

artículo científico publicado en 1997

Localisation of a Fanconi anaemia gene to chromosome 9p.

artículo científico publicado en 1998

Localisation of a gene for Papillon-Lefèvre syndrome to chromosome 11q14-q21 by homozygosity mapping

artículo científico publicado en 1997

Localisation of a gene for an autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia, and distinctive facies to chromosome 15q26.

artículo científico publicado en 2001

Localisation of gene for the naevoid basal-cell carcinoma syndrome

artículo científico publicado en 1992

Localization of a gene for syndactyly type 1 to chromosome 2q34-q36.

artículo científico publicado en 2000

Localization of a locus for the striated form of palmoplantar keratoderma to chromosome 18q near the desmosomal cadherin gene cluster.

artículo científico publicado en 1995

Localization of the gene causing keratolytic winter erythema to chromosome 8p22-p23, and evidence for a founder effect in South African Afrikaans-speakers

artículo científico publicado en 1997

Loss of function of SVBP leads to autosomal recessive intellectual disability, microcephaly, ataxia, and hypotonia

artículo científico publicado en 2019

Loss-of-function mutations in the filaggrin gene: no contribution to disease susceptibility, but to autoantibody formation against citrullinated peptides in early rheumatoid arthritis

article

MAN1B1 Mutation Leads to a Recognizable Phenotype: A Case Report and Future Prospects.

artículo científico publicado en 2015

MAP4-dependent regulation of microtubule formation affects centrosome, cilia, and Golgi architecture as a central mechanism in growth regulation.

artículo científico publicado en 2014

Mal de Meleda (MDM) caused by mutations in the gene for SLURP-1 in patients from Germany, Turkey, Palestine, and the United Arab Emirates

artículo científico publicado en 2002

Male restricted genetic association of variant R620W in PTPN22 with psoriatic arthritis

artículo científico publicado en 2006

Mapping of a gene for epidermolytic palmoplantar keratoderma to the region of the acidic keratin gene cluster at 17q12-q21.

artículo científico publicado en 1992

Meta-analysis confirms the LCE3C_LCE3B deletion as a risk factor for psoriasis in several ethnic groups and finds interaction with HLA-Cw6.

artículo científico publicado en 2010

Metastatic Malignant Melanoma With Complete Loss of Differentiation Markers (Undifferentiated/Dedifferentiated Melanoma): Analysis of 14 Patients Emphasizing Phenotypic Plasticity and the Value of Molecular Testing as Surrogate Diagnostic Marker.

artículo científico publicado en 2015

Microphthalmia is not a mandatory finding in X-linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85Leu

scientific article published on 18 November 2018

Microsatellite Haplotypes of Polish Cystic Fibrosis Alleles: ΔF508 Chromosomes Demonstrate a North-South Haplotype Frequency Gradient

scientific article published on 01 November 1996

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

artículo científico publicado en 2011

Missense variations in the cystic fibrosis gene: heteroduplex formation in the F508C mutation

artículo científico publicado en 1992

Molecular genetics and diagnostic certainty--the example of cystic fibrosis

artículo científico publicado en 1989

Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays

artículo científico publicado en 2007

Molecular karyotyping using an SNP array for genomewide genotyping.

artículo científico publicado en 2004

Mutation analysis of the Nijmegen breakage syndrome gene (NBS1) in nineteen patients with acute myeloid leukemia with complex karyotypes.

artículo científico publicado en 2003

Mutation in the Scyl1 gene encoding amino-terminal kinase-like protein causes a recessive form of spinocerebellar neurodegeneration

artículo científico publicado en 2007

Mutation in the betaA3/A1-crystallin encoding gene Cryba1 causes a dominant cataract in the mouse

artículo científico publicado en 1999

Mutation in the gene encoding lysosomal acid phosphatase (Acp2) causes cerebellum and skin malformation in mouse

scientific journal article

Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease

artículo científico publicado en 2001

Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme.

artículo científico publicado en 2008

Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment

artículo científico publicado en 2015

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

artículo científico publicado en 2010

Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features

artículo científico publicado en 2016

Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.

artículo científico publicado en 2010

Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation

artículo científico publicado en 2007

Mutations in microcephalin cause aberrant regulation of chromosome condensation.

artículo científico publicado en 2004

Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome

artículo científico publicado en 2018

Mutations in the Nijmegen Breakage Syndrome gene (NBS1) in childhood acute lymphoblastic leukemia (ALL).

artículo científico publicado en 2001

Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia

artículo científico publicado en 2006

Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huët anomaly)

artículo científico publicado en 2002

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

artículo científico publicado en 2016

Mutations in the mitochondrial gene C12ORF65 lead to syndromic autosomal recessive intellectual disability and show genotype phenotype correlation

article

Mutations in the pericentrin (PCNT) gene cause primordial dwarfism

artículo científico publicado en 2008

NDST1 missense mutations in autosomal recessive intellectual disability.

artículo científico publicado en 2014

NEK1 mutations cause short-rib polydactyly syndrome type majewski

artículo científico publicado en 2011

Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium

artículo científico publicado en 2018

New Therapeutic Approaches in Inflammatory Diseases of the Eye - Targeting Lymphangiogenesis and Cellular Immunity: Research Unit FOR 2240 Presents Itself

artículo científico publicado en 2017

Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome

artículo científico publicado en 1998

Nijmegen breakage syndrome: consequences of defective DNA double strand break repair

artículo científico publicado en 1999

Non-syndromic autosomal dominant progressive non-specific mid-frequency sensorineural hearing impairment with childhood to late adolescence onset (DFNA21).

artículo científico publicado en 2000

Novel STRA6 null mutations in the original family described with Matthew-Wood syndrome.

artículo científico publicado en 2017

Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1

article

Novel mutations in the MYOC/GLC1A gene in a large group of glaucoma patients

article

Novel truncating mutation in CACNA1F in a young male patient diagnosed with optic atrophy

scientific article published on 27 September 2018

Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy

artículo científico publicado en 2014

PTPN22 is associated with susceptibility to psoriatic arthritis but not psoriasis: evidence for a further PsA-specific risk locus ⬇️

artículo científico publicado en 2015

Palmoplantar keratoderma in association with carcinoma of the esophagus maps to chromosome 17q distal to the keratin gene cluster.

artículo científico publicado en 1995

Patients with unstable angina pectoris show an increased frequency of the Fc gamma RIIa R131 allele

artículo científico publicado en 2012

Periodic catatonia: confirmation of linkage to chromosome 15 and further evidence for genetic heterogeneity

artículo científico publicado en 2002

Phenotypic differences in Angelman syndrome patients: imprinting mutations show less frequently microcephaly and hypopigmentation than deletions

artículo científico publicado en 1996

Physical and transcriptional map of the critical region for keratolytic winter erythema (KWE) on chromosome 8p22-p23 between D8S550 and D8S1759.

artículo científico publicado en 2002

Possible association of the allele status of the CS.7/HhaI polymorphism 5' of the CFTR gene with postnatal female survival

artículo científico publicado en 1997

Posttranscriptional Regulation of LOXL1 Expression Via Alternative Splicing and Nonsense-Mediated mRNA Decay as an Adaptive Stress Response

artículo científico publicado en 2017

Prenatal findings in four consecutive pregnancies with fetal Pierson syndrome, a newly defined congenital nephrosis syndrome

Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma

Profiling of WDR36 missense variants in German patients with glaucoma

artículo científico publicado en 2008

Promoter polymorphism at -238 of the tumor necrosis factor alpha gene is not associated with early onset psoriasis when tested by the transmission disequilibrium test

artículo científico publicado en 1999

Pseudoexfoliation syndrome-associated genetic variants affect transcription factor binding and alternative splicing of LOXL1.

artículo científico publicado en 2017

Psoriasis is associated with increased beta-defensin genomic copy number

artículo científico publicado en 2007

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

artículo científico publicado en 2012

Rare copy number variants are a common cause of short stature

artículo científico publicado en 2013

Recurrent nasal polyps as a monosymptomatic form of cystic fibrosis associated with a novel in-frame deletion (591del18) in the CFTR gene

artículo científico publicado en 1995

Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin.

artículo científico publicado en 2014

Renal polyamine excretion, tubular amino acid reabsorption and molecular genetics in cystinuria

article

Replication of LCE3C–LCE3B CNV as a Risk Factor for Psoriasis and Analysis of Interaction with Other Genetic Risk Factors

article

Replication of a distinct psoriatic arthritis risk variant at the IL23R locus

artículo científico publicado en 2016

Risk, Prediction and Prevention of Hereditary Breast Cancer - Large-Scale Genomic Studies in Times of Big and Smart Data.

artículo científico publicado en 2018

Role of Endogenous Regulators of Hem- And Lymphangiogenesis in Corneal Transplantation

scientific article published on 09 February 2020

SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss

artículo científico publicado en 2016

SWI/SNF Protein Expression Status in Fumarate Hydratase-deficient Renal Cell Carcinoma: Immunohistochemical Analysis of 32 Tumors from 28 Patients.

artículo científico publicado en 2018

Self-Healing Collodion Baby: a Dynamic Phenotype Explained by a Particular Transglutaminase-1 Mutation

article by Michael Raghunath et al published February 2003 in Journal of Investigative Dermatology

Severe, neonatal-onset OTC deficiency in twin sisters with a de novo balanced reciprocal translocation t(X;5)(p21.1;q11).

artículo científico publicado en 2005

Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator

artículo científico publicado en 2005

Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations.

artículo científico publicado en 2018

Small abnormality of the middle ear--a genetically-induced defect?

artículo científico publicado en 1998

Splitting Schizophrenia: Periodic Catatonia–Susceptibility Locus on Chromosome 15q15

Splitting schizophrenia: periodic catatonia-susceptibility locus on chromosome 15q15

artículo científico publicado en 2000

Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis

artículo científico publicado en 1998

Systematic linkage disequilibrium analysis of SLC12A8 at PSORS5 confirms a role in susceptibility to psoriasis vulgaris

artículo científico publicado en 2005

TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23)

artículo científico publicado en 2015

TNF polymorphisms in psoriasis: Association of psoriatic arthritis with the promoter polymorphismTNF*-857 independent of thePSORS1 risk allele

scholarly article by Kristian Reich et al published 2007 in Arthritis and Rheumatism

TRIM28 haploinsufficiency predisposes to Wilms tumor

scientific article published on 14 February 2019

The Fanconi anemia group E gene, FANCE, maps to chromosome 6p

artículo científico publicado en 1999

The German Chronic Kidney Disease (GCKD) study: design and methods

artículo científico publicado en 2011

The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?

artículo científico publicado en 2016

The ataxia-telangiectasia-variant genes 1 and 2 are distinct from the ataxia-telangiectasia gene on chromosome 11q23.1.

artículo científico publicado en 1995

The clinical significance of small copy number variants in neurodevelopmental disorders

artículo científico publicado en 2014

The critical region for Angelman syndrome lies between D15S122 and D15S113

The gene for autosomal dominant craniometaphyseal dysplasia maps to chromosome 5p and is distinct from the growth hormone-receptor gene

artículo científico publicado en 1997

The gene for human fibronectin glomerulopathy maps to 1q32, in the region of the regulation of complement activation gene cluster

artículo científico publicado en 1998

The gene for the ataxia-telangiectasia variant, Nijmegen breakage syndrome, maps to a 1-cM interval on chromosome 8q21

artículo científico publicado en 1997

The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy

The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy

The origin of the major cystic fibrosis mutation (delta F508) in European populations.

artículo científico publicado en 1994

The polynucleotide kinase 3′-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25

artículo científico publicado en 2018

The proinflammatory effect of C-reactive protein on human endothelial cells depends on the FcγRIIa genotype

artículo científico publicado en 2013

The scoliosis (sco) mouse: a new allele of Pax1

scientific journal article

Three dinucleotide microsatellite polymorphisms on human chromosome 13.

artículo científico publicado en 1993

Towards the genetic basis of periodic catatonia: pedigree sample for genome scan I and II

artículo científico publicado en 2001

Trinucleotide repeat polymorphism at the PKLR locus

artículo científico publicado en 1994

Tumor necrosis factor promoter polymorphism TNF*-857 is a risk allele for psoriatic arthritis independent of the PSORS1 locus

scholarly article by Emiliano Giardina et al published 29 November 2011 in Arthritis and Rheumatism

Tumor necrosis factor receptor-associated periodic syndrome characterized by a mutation affecting the cleavage site of the receptor: implications for pathogenesis

artículo científico publicado en 2003

Two novel distinct COL1A2 mutations highlight the complexity of genotype-phenotype correlations in osteogenesis imperfecta and related connective tissue disorders.

artículo científico publicado en 2013

Two novel mutations in the insulin binding subunit of the insulin receptor gene without insulin binding impairment in a patient with Rabson-Mendenhall syndrome

artículo científico publicado en 2008

Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum

artículo científico publicado en 2007

Tyrosinase Is a Novel Endogenous Regulator of Developmental and Inflammatory Lymphangiogenesis

artículo científico publicado en 2018

V76D mutation in a conserved gD-crystallin region leads to dominant cataracts in mice

artículo científico publicado en 2002

Variants in ASB10 are associated with open-angle glaucoma

artículo científico publicado en 2012

Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior

scientific article published on 01 December 2018

Variants inRUNX3Contribute to Susceptibility to Psoriatic Arthritis, Exhibiting Further Common Ground With Ankylosing Spondylitis

article

Whole exome sequencing reveals a novel de novo FOXC1 mutation in a patient with unrecognized Axenfeld-Rieger syndrome and glaucoma

artículo científico publicado en 2015

α-Synuclein oligomers induce early axonal dysfunction in human iPSC-based models of synucleinopathies

article published in the Proceedings of the National Academy of Sciences of the United States of America

α-Synuclein-induced myelination deficit defines a novel interventional target for multiple system atrophy

artículo científico publicado en 2016

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