Lista de obras - Andreas Janecke - Dominio Público Uruguay

"Essentially" pure trisomy 3q27 --> qter: further delineation of the partial trisomy 3q phenotype.

artículo científico publicado en 2009

A Novel Homozygous SLC26A3 Nonsense Mutation in a Tyrolean Girl With Congenital Chloride Diarrhea

A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C.

artículo científico publicado en 2010

A large family with a gain-of-function mutation of complement C3 predisposing to atypical hemolytic uremic syndrome, microhematuria, hypertension and chronic renal failure

artículo científico publicado en 2009

A new, X-linked endothelial corneal dystrophy

artículo científico publicado en 2006

A recognizable type of syndromic short stature with arthrogryposis caused by bi-allelic SEMA3A loss-of-function variants

artículo científico publicado en 2017

AP1S1 missense mutations cause a congenital enteropathy via an epithelial barrier defect

artículo científico publicado en 2020

Adducted thumb-club foot syndrome in sibs of a consanguineous Austrian family

artículo científico publicado en 2001

Assessment of energy expenditure in metabolic disorders ⬇️

artículo científico publicado el 1 de agosto de 1997

Blood transfusion in late anemia of prematurity: effect on oxygen consumption, heart rate, and weight gain in otherwise healthy infants.

artículo científico publicado en 1994

CFTR gene mutations in pancreatitis: Frequency and clinical manifestations in an Austrian patient cohort

article

CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age

scientific article published on 03 December 2019

Case of syndromic tufting enteropathy harbors SPINT2 mutation seen in congenital sodium diarrhea

artículo científico publicado en 2010

Cerebellar dysfunction in a family harboring the PSEN1 mutation co-segregating with a cathepsin D variant p.A58V.

artículo científico publicado en 2013

Circadian variation on oxygen consumption in preterm infants

Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene

artículo científico publicado en 2007

Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function

artículo científico publicado en 2009

Co-existence of ABCB11 and DCDC2 disease: Infantile cholestasis requires both next-generation sequencing and clinical-histopathologic correlation

artículo científico publicado en 2020

Coexistence ofKCNV2associated cone dystrophy with supernormal rod electroretinogram andMFRPrelated oculopathy in a Turkish family

Complement factor H-related protein 1 deficiency and factor H antibodies in pediatric patients with atypical hemolytic uremic syndrome

artículo científico publicado en 2012

Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema

article

Congenital disorders of glycosylation with emphasis on loss of dermatan-4-sulfotransferase

artículo científico publicado en 2010

Congenital secretory diarrhoea caused by activating germline mutations in GUCY2C.

artículo científico publicado en 2015

Congenital sodium diarrhea is an autosomal recessive disorder of sodium/proton exchange but unrelated to known candidate genes

article

Congenital type IV glycogenosis: the spectrum of pleomorphic polyglucosan bodies in muscle, nerve, and spinal cord with two novel mutations in the GBE1 gene

article

De novo mutation of the connexin 26 gene associated with dominant non-syndromic sensorineural hearing loss

artículo científico publicado en 2001

Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations

artículo científico publicado en 2012

Dissecting the pathogenic mechanisms of mutations in the pore region of the human cone photoreceptor cyclic nucleotide-gated channel

artículo científico publicado en 2010

Eculizumab for Atypical Hemolytic–Uremic Syndrome

scientific article published on 01 January 2009

Evidence for genetic heterogeneity in lymphedema-cholestasis syndrome

artículo científico publicado en 2003

Evidence for genetic modifiers other than filaggrin mutations in X-linked ichthyosis

article

Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes

artículo científico publicado en 2010

Expanding CEP290 mutational spectrum in ciliopathies

artículo científico publicado en 2009

Ferroportin disease: a systematic meta-analysis of clinical and molecular findings

artículo científico publicado en 2010

Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin

artículo científico publicado en 2011

Filaggrin genotype in ichthyosis vulgaris predicts abnormalities in epidermal structure and function

artículo científico publicado en 2011

Filaggrin mutations p.R501X and c.2282del4 in ichthyosis vulgaris

article

Further delineation of putative ACTB loss-of-function variants: A 4-patient series

artículo científico publicado en 2020

Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome

artículo científico publicado en 2007

GJB2 mutations and degree of hearing loss: a multicenter study

artículo científico publicado en 2005

GJB2mutations in keratitis-ichthyosis-deafness syndrome including its fatal form

artículo científico publicado en 2005

Genetic analyses in a variant of Mayer-Rokitansky-Kuster-Hauser syndrome (MURCS association).

artículo científico publicado en 2008

Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form

artículo científico publicado en 2013

Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity.

artículo científico publicado en 2011

Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis

artículo científico publicado en 2006

Germline variants in the SEMA4A gene predispose to familial colorectal cancer type X.

artículo científico publicado en 2014

Hepatic but not brain iron is rapidly chelated by deferasirox in aceruloplasminemia due to a novel gene mutation

artículo científico publicado en 2010

High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasia

artículo científico publicado en 2011

Histology and synchrotron radiation-based microtomography of the inner ear in a molecularly confirmed case of CHARGE syndrome

artículo científico publicado en 2010

Histopathological and neuroradiological features of Usher syndrome type II.

artículo científico publicado en 2008

Homozygous SALL1 mutation causes a novel multiple congenital anomaly-mental retardation syndrome

artículo científico publicado en 2012

Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype-phenotype correlation

artículo científico publicado en 2016

Hypochloremic metabolic alkalosis and failure to thrive: answer

artículo científico publicado en 2010

Hypochloremic metabolic alkalosis and failure to thrive: question

article

Hypoplasia of deep cerebellar nuclei in joubert syndrome

artículo científico publicado en 2009

Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations

artículo científico publicado en 2009

Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D.

artículo científico publicado en 2002

Identification of Mutations in SLC40A1 That Affect Ferroportin Function and Phenotype of Human Ferroportin Iron Overload

article

Identification of a 4.9-kilo base-pair Alu-mediated founder SDHD deletion in two extended paraganglioma families from Austria

artículo científico publicado en 2010

In vitro analysis of LIPH mutations causing hypotrichosis simplex: evidence confirming the role of lipase H and lysophosphatidic acid in hair growth

artículo científico publicado en 2009

Increased energy expenditure and fecal fat excretion do not impair weight gain in small-for-gestational-age preterm infants

artículo científico publicado en 1999

Inherited ichthyoses/generalized Mendelian disorders of cornification

artículo científico publicado en 2012

Joubert-like syndrome unlinked to known candidate loci

artículo científico publicado en 2004

Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers-Danlos syndrome

artículo científico

Loss of dermatan-4-sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, “dermatan sulfate-deficient adducted thumb-clubfoot syndrome”

artículo científico publicado en 2011

Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome

artículo científico publicado en 2009

Loss of syntaxin 3 causes variant microvillus inclusion disease

artículo científico publicado en 2014

Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia

Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model.

artículo científico publicado en 2010

Lower prevalence of common filaggrin mutations in a community sample of atopic eczema: is disease severity important?

artículo científico publicado en 2010

MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta.

artículo científico publicado en 2016

MED20 mutation associated with infantile basal ganglia degeneration and brain atrophy

artículo científico publicado en 2014

MNGIE Syndrome: Liver Cirrhosis Should Be Ruled Out Prior to Bone Marrow Transplantation

artículo científico publicado en 2012

MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity.

artículo científico publicado en 2008

Microvillus inclusion disease: loss of Myosin vb disrupts intracellular traffic and cell polarity.

artículo científico publicado en 2013

Molecular analysis of two novel missense mutations in the GDF5 proregion that reduce protein activity and are associated with brachydactyly type C

artículo científico publicado en 2014

Muellerian aplasia associated with ring chromosome 8p12q12 mosaicism

Mutation analysis in glycogen storage disease type 1 non-a

article

Mutation of POC1B in a severe syndromic retinal ciliopathy

artículo científico publicado en 2014

Mutation spectrum of type I glycogen storage disease in Hungary.

artículo científico publicado en 2005

Mutations in GDF5 reveal a key residue mediating BMP inhibition by NOGGIN

scientific journal article

Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics

artículo científico publicado en 2011

Mutations in PYCR1 cause cutis laxa with progeroid features

artículo científico publicado en 2009

Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy

artículo científico publicado en 2004

Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea

artículo científico publicado en 2009

Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation

artículo científico publicado en 2004

Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy

scientific journal article

Neonatal type IV glycogen storage disease associated with “null” mutations in glycogen branching enzyme 1

artículo científico publicado en 2004

Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway

artículo científico publicado en 2014

Novel C59T leader peptide mutation in the MPZ gene associated with late-onset, axonal, sensorimotor polyneuropathy

article

Novel PCNT variants in MOPDII with attenuated growth restriction and pachygyria

scientific article published on 17 June 2020

Ocular manifestations of keratitis-ichthyosis-deafness (KID) syndrome

artículo científico publicado en 2005

Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification.

artículo científico publicado en 2005

Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

artículo científico publicado en 2014

PORCN mutations in focal dermal hypoplasia: coping with lethality

artículo científico publicado en 2009

Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene

artículo científico publicado en 2008

Prenatal diagnosis of apert syndrome with cloverleaf skull deformity using ultrasound, fetal magnetic resonance imaging and genetic analysis

artículo científico publicado en 2009

Progressive hearing loss, and recurrent sudden sensorineural hearing loss associated with GJB2 mutations--phenotypic spectrum and frequencies of GJB2 mutations in Austria

artículo científico publicado en 2002

Reduced NHE3 activity results in congenital diarrhea and can predispose to inflammatory bowel disease

artículo científico publicado en 2017

Refinement of the GINGF3 locus for hereditary gingival fibromatosis

artículo científico publicado en 2009

Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle

artículo científico publicado en 2005

SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease

artículo científico publicado en 2011

SNP-array based whole genome homozygosity mapping: a quick and powerful tool to achieve an accurate diagnosis in LGMD2 patients

artículo científico publicado en 2010

Sensorineural hearing loss and the incidence of Cx26 mutations in Austria

artículo científico publicado en 2001

Significance of Molecular Testing for Congenital Chloride Diarrhea

Split hand/split foot malformation associated with sensorineural deafness, inner and middle ear malformation, hypodontia, congenital vertical talus, and deletion of eight microsatellite markers in 7q21.1-q21.3.

artículo científico publicado en 2001

Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome--an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13

artículo científico publicado en 2008

Systematic screening and treatment evaluation of hereditary neck paragangliomas.

artículo científico publicado en 2007

TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone

artículo científico publicado en 2011

Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I.

artículo científico publicado en 2010

The 342-kb deletion in GJB6 is not present in patients with non-syndromic hearing loss from Austria

artículo científico publicado en 2003

The canine copper toxicosis gene MURR1 does not cause non-Wilsonian hepatic copper toxicosis

artículo científico publicado en 2003

The phenotype of early-onset retinal degeneration in persons with RDH12 mutations

artículo científico publicado en 2007

Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity

artículo científico publicado en 1999

Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome

artículo científico publicado en 2008

Van-der-Woude-Syndrom

Variants in CPA1 are strongly associated with early onset chronic pancreatitis

artículo científico publicado en 2013

ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components.

artículo científico publicado en 2013

p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.

artículo científico publicado en 2001

Lista de obras de Andreas Janecke

"Essentially" pure trisomy 3q27 --> qter: further delineation of the partial trisomy 3q phenotype.

A Novel Homozygous SLC26A3 Nonsense Mutation in a Tyrolean Girl With Congenital Chloride Diarrhea

A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C.

A large family with a gain-of-function mutation of complement C3 predisposing to atypical hemolytic uremic syndrome, microhematuria, hypertension and chronic renal failure

A new, X-linked endothelial corneal dystrophy

A recognizable type of syndromic short stature with arthrogryposis caused by bi-allelic SEMA3A loss-of-function variants

AP1S1 missense mutations cause a congenital enteropathy via an epithelial barrier defect

Adducted thumb-club foot syndrome in sibs of a consanguineous Austrian family

Assessment of energy expenditure in metabolic disorders ⬇️

Blood transfusion in late anemia of prematurity: effect on oxygen consumption, heart rate, and weight gain in otherwise healthy infants.

CFTR gene mutations in pancreatitis: Frequency and clinical manifestations in an Austrian patient cohort

CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age

Case of syndromic tufting enteropathy harbors SPINT2 mutation seen in congenital sodium diarrhea

Cerebellar dysfunction in a family harboring the PSEN1 mutation co-segregating with a cathepsin D variant p.A58V.

Circadian variation on oxygen consumption in preterm infants

Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene

Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function

Co-existence of ABCB11 and DCDC2 disease: Infantile cholestasis requires both next-generation sequencing and clinical-histopathologic correlation

Coexistence ofKCNV2associated cone dystrophy with supernormal rod electroretinogram andMFRPrelated oculopathy in a Turkish family

Complement factor H-related protein 1 deficiency and factor H antibodies in pediatric patients with atypical hemolytic uremic syndrome

Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema

Congenital disorders of glycosylation with emphasis on loss of dermatan-4-sulfotransferase

Congenital secretory diarrhoea caused by activating germline mutations in GUCY2C.

Congenital sodium diarrhea is an autosomal recessive disorder of sodium/proton exchange but unrelated to known candidate genes

Congenital type IV glycogenosis: the spectrum of pleomorphic polyglucosan bodies in muscle, nerve, and spinal cord with two novel mutations in the GBE1 gene

De novo mutation of the connexin 26 gene associated with dominant non-syndromic sensorineural hearing loss

Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations

Dissecting the pathogenic mechanisms of mutations in the pore region of the human cone photoreceptor cyclic nucleotide-gated channel

Eculizumab for Atypical Hemolytic–Uremic Syndrome

Evidence for genetic heterogeneity in lymphedema-cholestasis syndrome

Evidence for genetic modifiers other than filaggrin mutations in X-linked ichthyosis

Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes

Expanding CEP290 mutational spectrum in ciliopathies

Ferroportin disease: a systematic meta-analysis of clinical and molecular findings

Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin

Filaggrin genotype in ichthyosis vulgaris predicts abnormalities in epidermal structure and function

Filaggrin mutations p.R501X and c.2282del4 in ichthyosis vulgaris

Further delineation of putative ACTB loss-of-function variants: A 4-patient series

Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome

GJB2 mutations and degree of hearing loss: a multicenter study

GJB2mutations in keratitis-ichthyosis-deafness syndrome including its fatal form

Genetic analyses in a variant of Mayer-Rokitansky-Kuster-Hauser syndrome (MURCS association).

Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form

Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity.

Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis

Germline variants in the SEMA4A gene predispose to familial colorectal cancer type X.

Hepatic but not brain iron is rapidly chelated by deferasirox in aceruloplasminemia due to a novel gene mutation

High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasia

Histology and synchrotron radiation-based microtomography of the inner ear in a molecularly confirmed case of CHARGE syndrome

Histopathological and neuroradiological features of Usher syndrome type II.

Homozygous SALL1 mutation causes a novel multiple congenital anomaly-mental retardation syndrome

Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype-phenotype correlation

Hypochloremic metabolic alkalosis and failure to thrive: answer

Hypochloremic metabolic alkalosis and failure to thrive: question

Hypoplasia of deep cerebellar nuclei in joubert syndrome

Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations

Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D.

Identification of Mutations in SLC40A1 That Affect Ferroportin Function and Phenotype of Human Ferroportin Iron Overload

Identification of a 4.9-kilo base-pair Alu-mediated founder SDHD deletion in two extended paraganglioma families from Austria

In vitro analysis of LIPH mutations causing hypotrichosis simplex: evidence confirming the role of lipase H and lysophosphatidic acid in hair growth

Increased energy expenditure and fecal fat excretion do not impair weight gain in small-for-gestational-age preterm infants

Inherited ichthyoses/generalized Mendelian disorders of cornification

Joubert-like syndrome unlinked to known candidate loci

Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers-Danlos syndrome

Loss of dermatan-4-sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, “dermatan sulfate-deficient adducted thumb-clubfoot syndrome”

Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome

Loss of syntaxin 3 causes variant microvillus inclusion disease

Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia

Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model.

Lower prevalence of common filaggrin mutations in a community sample of atopic eczema: is disease severity important?

MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta.

MED20 mutation associated with infantile basal ganglia degeneration and brain atrophy

MNGIE Syndrome: Liver Cirrhosis Should Be Ruled Out Prior to Bone Marrow Transplantation

MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity.

Microvillus inclusion disease: loss of Myosin vb disrupts intracellular traffic and cell polarity.

Molecular analysis of two novel missense mutations in the GDF5 proregion that reduce protein activity and are associated with brachydactyly type C

Muellerian aplasia associated with ring chromosome 8p12q12 mosaicism

Mutation analysis in glycogen storage disease type 1 non-a

Mutation of POC1B in a severe syndromic retinal ciliopathy