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Lista de obras de Anita Rauch

"Mowat-Wilson" syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene

artículo científico publicado en 2002

6.7 Mb interstitial duplication in chromosome band 11q24.2q25 associated with infertility, minor dysmorphic features and normal psychomotor development

artículo científico publicado en 2008

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

artículo científico publicado en 2011

9 Mb deletion including chromosome band 3q24 associated with unsuspicious facial gestalt, persistent ductus omphaloentericus, mild mental retardation and tic.

artículo científico publicado en 2005

?Mowat-Wilson? syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene

article

A 15Mb duplication of 6q24.1-q25.3 associated with typical but milder features of the duplication 6q syndrome

artículo científico publicado en 2008

A clinical scoring system for congenital contractural arachnodactyly

scientific article published on 18 July 2019

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

artículo científico publicado en 2013

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 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 male infant with a 9.6 Mb terminal Xp deletion including the OA1 locus: Limit of viability of Xp deletions in males

artículo científico publicado en 2007

A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype.

artículo científico publicado en 2006

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 newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes

artículo científico publicado en 2014

A novel 5q35.3 subtelomeric deletion syndrome

artículo científico publicado en 2003

A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients

artículo científico publicado en 2009

A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2.

artículo científico publicado en 2015

A severe congenital myasthenic syndrome with "dropped head" caused by novel MUSK mutations.

artículo científico publicado en 2015

A study of ten small supernumerary (marker) chromosomes identified by fluorescence in situ hybridization (FISH)

artículo científico publicado el 1 de agosto de 1992

A variable combination of features of Noonan syndrome and neurofibromatosis type I are caused by mutations in theNF1 gene

article

Achondrogenesis Type IA (Houston-Harris): A Still-Unresolved Molecular Phenotype

artículo científico publicado en 2007

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

artículo científico publicado en 2004

Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency

artículo científico publicado en 2010

Analysis of an interstitial deletion in a patient with Kallmann syndrome, X‐linked ichthyosis and mental retardation ⬇️

artículo científico publicado el 1 de julio de 1998

Association between C677T polymorphism of methylene tetrahydrofolate reductase and congenital heart disease: meta-analysis of 7697 cases and 13,125 controls

scientific article published on 22 July 2013

Atypical ZFHX1B mutation associated with a mild Mowat-Wilson syndrome phenotype

artículo científico publicado en 2006

Autosomal recessive primary microcephaly due to ASPM mutations: An update

artículo científico publicado en 2017

Autosomal-dominant hypertension with type E brachydactyly is caused by rearrangement on the short arm of chromosome 12.

artículo científico publicado en 2004

Basic aspects of medical genetics

artículo científico publicado en 2013

Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities

artículo científico publicado en 2020

Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism

scientific article published on 01 December 2018

Biallelic SEMA3A defects cause a novel type of syndromic short stature

artículo científico publicado en 2013

Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development.

artículo científico publicado en 2018

Brachydactyly in a child with duplication‐deficiency subsequent to t(15;20)(q25.2;p12.2)mat. Candidate regions on one or both chromosomes? ⬇️

artículo científico publicado el 1 de mayo de 1997

CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects

artículo científico publicado en 2020

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

artículo científico publicado en 2011

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

CUGC for Simpson-Golabi-Behmel syndrome (SGBS)

scientific article published on 25 January 2019

Cervical origin of the subclavian artery as a specific marker for monosomy 22q11

artículo científico publicado en 2002

Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome

artículo científico publicado en 2020

Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome

artículo científico publicado en 2019

Chromosome 5q subtelomeric deletion syndrome

artículo científico publicado en 2007

Clinical and functional characterization of two novel ZBTB20 mutations causing Primrose syndrome

artículo científico publicado en 2018

Clinical and genetic distinction of Schimke immuno-osseous dysplasia and cartilage-hair hypoplasia.

artículo científico publicado en 2008

Clinical and mutational spectrum of Mowat-Wilson syndrome

artículo científico publicado en 2005

Clinical decisions for treatment of different staged bladder cancer based on multitarget fluorescence in situ hybridization assays?

scientific article published on 11 May 2006

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

artículo científico publicado en 2017

Clinical utility gene card for: DiGeorge syndrome, velocardiofacial syndrome, Shprintzen syndrome, chromosome 22q11.2 deletion syndrome (22q11.2, TBX1).

artículo científico publicado en 2010

Clinical utility gene card for: Mowat-Wilson syndrome

artículo científico

Clinical, cytogenetic and molecular characterization of a patient with combined succinic semialdehyde dehydrogenase deficiency and incomplete WAGR syndrome with obesity.

artículo científico publicado en 2006

Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot.

artículo científico publicado en 2009

Confirmation of mutations in PROSC as a novel cause of vitamin B 6 -dependent epilepsy.

artículo científico publicado en 2017

Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease

artículo científico publicado en 2012

Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

artículo científico publicado en 2017

Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1

artículo científico publicado en 2007

De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects

scientific article published on 01 October 2019

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 the genome organizer CTCF cause intellectual disability.

artículo científico publicado en 2013

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

article by Alexander Hoischen et al published 26 June 2011 in Nature Genetics

De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy

scientific article published on 31 August 2018

Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder

scientific article published on 14 March 2019

Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans

artículo científico publicado en 2021

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

artículo científico publicado en 2006

Disruption of ST5 is associated with mental retardation and multiple congenital anomalies

artículo científico publicado en 2009

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

Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability.

artículo científico publicado en 2013

Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination.

scientific article published on December 2009

Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly

artículo científico publicado en 2019

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

Exome sequencing in unspecific intellectual disability and rare disorders

Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1

artículo científico publicado en 2011

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

artículo científico publicado en 2016

Facial phenotype allows diagnosis of Mowat-Wilson syndrome in the absence of Hirschsprung disease

artículo científico publicado en 2004

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

artículo científico publicado en 2011

Fetal tuberous sclerosis and the diagnosis of paternal gonadal mosaicism

scientific article published on 06 October 2019

Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes

artículo científico publicado en 2019

Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients.

artículo científico publicado en 2008

Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuria

artículo científico publicado en 2013

Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features

artículo científico publicado en 2016

Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features

article

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

artículo científico publicado en 2016

Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot

scientific journal article

Genome-wide copy number profiling using a 100K SNP array reveals novel disease-related genes BORIS and TSHZ1 in juvenile angiofibroma

artículo científico publicado en 2011

Genome-wide non-invasive prenatal testing in single- and multiple-pregnancies at any risk: Identification of maternal polymorphisms to reduce the number of unnecessary invasive confirmation testing

artículo científico publicado en 2020

Genotype-phenotype correlations in Noonan syndrome

artículo científico publicado en 2004

Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.

artículo científico publicado en 2017

Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation

artículo científico publicado en 2004

Germline KRAS mutations cause Noonan syndrome

artículo científico publicado en 2006

Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap

artículo científico publicado en 2009

Guidelines for molecular karyotyping in constitutional genetic diagnosis

artículo científico publicado en 2007

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

artículo científico publicado en 2007

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

artículo científico publicado en 2019

High resolution chromosomal microarray analysis in paediatric obsessive-compulsive disorder

artículo científico publicado en 2017

High-resolution chromosomal microarrays in prenatal diagnosis significantly increase diagnostic power

artículo científico publicado en 2014

High-resolution chromosomal microarray analysis for copy-number variations in high-functioning autism reveals large aberration typical for intellectual disability

artículo científico publicado en 2019

Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene

artículo científico publicado en 2008

Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions

artículo científico publicado en 2007

Hydrops, fetal pleural effusions and chylothorax in three patients with CBL mutations

artículo científico publicado en 2014

Hypoparathyroidism in conotruncal heart defects

artículo científico publicado en 2002

Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: Clinical and neuropathological observations in a 33-year-old man ⬇️

artículo científico publicado el 24 de julio de 1998

Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6)

scientific journal article

Incidence and significance of 22q11.2 hemizygosity in patients with interrupted aortic arch ⬇️

artículo científico publicado el 24 de julio de 1998

IndependentNF1andPTPN11mutations in a family with neurofibromatosis-Noonan syndrome

Infantile Epileptic Encephalopathy, Transient Choreoathetotic Movements, and Hypersomnia due to a De Novo Missense Mutation in the SCN2A Gene

article

Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a Nose

artículo científico publicado en 2020

Intellectual disability - a frequent reason for referral to medical genetics

artículo científico publicado en 2013

Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients

artículo científico publicado en 2015

Inversion region for hypertension and brachydactyly on chromosome 12p features multiple splicing and noncoding RNA.

artículo científico

LETM1 haploinsufficiency causes mitochondrial defects in cells from humans with Wolf-Hirschhorn syndrome: implications for dissecting the underlying pathomechanisms in this condition

artículo científico publicado en 2014

Laterality of the aortic arch and anomalies of the subclavian artery-reliable indicators for 22q11.2 deletion syndromes?

scientific article published on 06 August 2004

Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype

artículo científico publicado en 2021

Low-Level Chromosomal Mosaicism in Neurodevelopmental Disorders.

artículo científico publicado en 2017

Macrocerebellum: significance and pathogenic considerations

artículo científico publicado en 2012

Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13.

artículo científico publicado en 2010

Microarrays in prenatal diagnosis.

artículo científico publicado en 2017

Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome.

artículo científico publicado en 2014

Microcephalin and pericentrin regulate mitotic entry via centrosome-associated Chk1

artículo científico publicado en 2009

Microcephaly, lissencephaly, Hirschsprung disease and tetralogy of Fallot: a new syndrome?

artículo científico publicado en 2006

Microdeletions of chromosome 7p21, including TWIST1, associated with significant microcephaly, facial dysmorphism, and short stature.

artículo científico publicado en 2011

Mild clinical phenotype and subtle radiographic findings in an infant with cartilage-hair hypoplasia

scientific article published on 01 September 2009

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

artículo científico publicado en 2011

Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations.

artículo científico publicado en 2015

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

artículo científico publicado en 2007

Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions

artículo científico publicado en 2017

Monosomy 22q11 in patients with pulmonary atresia, ventricular septal defect, and major aortopulmonary collateral arteries ⬇️

artículo científico publicado el 1 de febrero de 1998

Monozygotic twins concordant for Cayler syndrome ⬇️

artículo científico publicado el 6 de enero de 1998

Mother and daughter with a terminal Xp deletion: implication of chromosomal mosaicism and X-inactivation in the high clinical variability of the microphthalmia with linear skin defects (MLS) syndrome

artículo científico publicado en 2007

Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems

Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems

artículo científico publicado en 2014

Mutations in CDK5RAP2 cause Seckel syndrome

artículo científico publicado en 2015

Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant

artículo científico publicado en 2016

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

artículo científico publicado en 2010

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 XRCC4 cause primary microcephaly, short stature and increased genomic instability

artículo científico publicado en 2015

Mutations in the pericentrin (PCNT) gene cause primordial dwarfism

artículo científico publicado en 2008

N(8)-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics

artículo científico publicado en 2015

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

Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations ⬇️

artículo científico publicado en 2012

New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics

artículo científico publicado en 2020

Noninvasive prenatal testing: more caution in counseling is needed in high risk pregnancies with ultrasound abnormalities.

artículo científico publicado en 2016

Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome

artículo científico publicado en 2012

Novel Morphological and Genetic Features of Fumarate Hydratase Deficient Renal Cell Carcinoma in HLRCC Syndrome Patients with a Tailored Therapeutic Approach

artículo científico publicado en 2020

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

artículo científico publicado en 2017

Novel autosomal recessive progressive hyperpigmentation syndrome

artículo científico publicado en 2005

Novel missense, insertion and deletion mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with congenital insensitivity to pain with anhidrosis

artículo científico publicado en 2008

PDE3A mutations cause autosomal dominant hypertension with brachydactyly

artículo científico publicado en 2015

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

artículo científico publicado en 2019

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care

artículo científico publicado en 2018

Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls

artículo científico publicado en 2012

Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency

artículo científico publicado en 2017

Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12.

scientific article published on May 2013

Prenatal diagnosis of HNF1B-associated renal cysts: Is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome?

scientific article published on 25 October 2019

Prevalence of genetic susceptibility for breast and ovarian cancer in a non-cancer related study population: secondary germline findings from a Swiss single centre cohort

scientific article published on 18 August 2019

Pulmonary artery sling and congenital tracheal stenosis in another patient with Mowat–Wilson syndrome

scientific article published on 01 July 2007

Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect (PDAC) syndrome due to STRA6 mutations--what are the minimal criteria?

artículo científico publicado en 2009

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

Rare copy number variants in individuals at clinical high risk for psychosis: Enrichment of synaptic/brain-related functional pathways

scientific article published on 19 November 2019

Reply to Hochstenbach et al. 'Molecular karyotyping'

scientific article published on 31 May 2006

SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome

artículo científico publicado en 2007

STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.

artículo científico publicado en 2017

Search for somatic 22q11.2 deletions in patients with conotruncal heart defects

artículo científico publicado en 2004

Severe reaction to radiotherapy provoked by hypomorphic germline mutations in ATM (ataxia-telangiectasia mutated gene)

artículo científico publicado en 2020

Severe skeletal dysplasia caused by undiagnosed hypothyroidism

artículo científico publicado en 2007

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

Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures

artículo científico publicado en 2019

Spectrum of arterial obstructions caused by one elastin gene point mutation

scientific article published on 01 January 2003

Spontaneous development and rupture of pulmonary artery aneurysm: a rare complication in an infant with peripheral pulmonary artery stenoses due to mutation of the elastin gene

artículo científico publicado en 2007

Surprisingly good outcome in antenatal diagnosis of severe hydrocephalus related to CCDC88C deficiency.

artículo científico publicado en 2017

Swiss newborn screening for severe T and B cell deficiency with a combined TREC/KREC assay - management recommendations

artículo científico publicado en 2020

Syndromal foramina parietalia permagna: ?new? or FG syndrome? Comments on the paper by Chrzanowska et al. [1998] ⬇️

artículo científico publicado el 6 de agosto de 1998

Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants.

artículo científico publicado en 2010

The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B.

artículo científico publicado en 2017

The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): Report of eight cases including a living child and further evidence for auto

article

The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction

scientific article published on 27 October 2020

The clinical significance of small copy number variants in neurodevelopmental disorders

artículo científico publicado en 2014

The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

artículo científico publicado en 2011

The face of Noonan syndrome: Does phenotype predict genotype

artículo científico publicado en 2010

The molecular basis of the cartilage-hair hypoplasia–anauxetic dysplasia spectrum ⬇️

artículo científico publicado el 1 de febrero de 2011

The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study

scientific article published on 14 December 2018

The shortest of the short: Pericentrin mutations and beyond ⬇️

artículo científico publicado el 1 de febrero de 2011

The smallest teeth in the world are caused by mutations in the PCNT gene

article

The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies

artículo científico publicado en 2016

Transcription factor E2-2 is an essential and specific regulator of plasmacytoid dendritic cell development

artículo científico publicado en 2008

True fetal mosaicism of an isochromosome of the long arm of a chromosome 20: the dilemma persists ⬇️

artículo científico publicado el 1 de diciembre de 1997

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

Variants in CUL4B are associated with cerebral malformations

artículo científico publicado en 2015

YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction

artículo científico

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