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Review and update of mutations causing Waardenburg syndrome

Human mutation, 2010-04, Vol.31 (4), p.391-406

2010

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Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4

American journal of human genetics, 2007-12, Vol.81 (6), p.1169-1185

2007

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Genetic interaction between Sox10 and Zfhx1b during enteric nervous system development

Developmental biology, 2010-05, Vol.341 (2), p.416-428

2010

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ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome

Human molecular genetics, 2013-07, Vol.22 (13), p.2652-2661

2013

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Interactions between Sox10, Edn3 and Ednrb during enteric nervous system and melanocyte development

Developmental biology, 2006-07, Vol.295 (1), p.232-249

2006

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COMMD1-mediated ubiquitination regulates CFTR trafficking

PloS one, 2011-03, Vol.6 (3), p.e18334-e18334

2011

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Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes

European journal of human genetics : EJHG, 2014-04, Vol.22 (4), p.471-479

2014

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Alternative splicing at a NAGNAG acceptor site as a novel phenotype modifier

PLoS genetics, 2010-10, Vol.6 (10), p.e1001153

2010

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Screening of MITF and SOX10 regulatory regions in Waardenburg syndrome type 2

PloS one, 2012-07, Vol.7 (7), p.e41927

2012

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Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C

Molecular genetics & genomic medicine, 2021-11, Vol.9 (11), p.e1645-n/a

2021

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Loss-of-Function Mutations in a Human Gene Related to Chlamydomonas reinhardtii Dynein IC78 Result in Primary Ciliary Dyskinesia

American journal of human genetics, 1999-12, Vol.65 (6), p.1508-1519

1999

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Mutation of the Sry-Related Sox10 Gene in Dominant megacolon, a Mouse Model for Human Hirschsprung Disease

Proceedings of the National Academy of Sciences - PNAS, 1998-04, Vol.95 (9), p.5161-5165

1998

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IL-4 Is a Potent Modulator of Ion Transport in the Human Bronchial Epithelium In Vitro

The Journal of immunology (1950), 2002-01, Vol.168 (2), p.839-845

2002

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A study of 36 unrelated cases with pure erythrocytosis revealed three new mutations in the erythropoietin receptor gene

Haematologica (Roma), 2008-07, Vol.93 (7), p.1072-1075

2008

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SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism

Human genetics, 2002-08, Vol.111 (2), p.198-206

2002

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One hundred spots parallel monitoring of DNA interactions by SPR imaging of polymer-functionalized surfaces applied to the detection of cystic fibrosis mutations

Sensors and actuators. B, Chemical, 2003-10, Vol.94 (3), p.313-323

2003

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Regenerating optic axons restore topography after incomplete optic nerve injury

Journal of comparative neurology (1911), 2007-11, Vol.505 (1), p.46-57

2007

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Connexin 32 promoter P2 mutations: A mechanism of peripheral nerve dysfunction

Annals of neurology, 2004-11, Vol.56 (5), p.730-734

2004

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Functional Analysis of Sox10 Mutations Found in Human Waardenburg-Hirschsprung Patients

The Journal of biological chemistry, 1998-09, Vol.273 (36), p.23033-23038

1998

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A recurrent deep-intronic splicing CF mutation emphasizes the importance of mRNA studies in clinical practice

Journal of cystic fibrosis, 2011-12, Vol.10 (6), p.479-482

2011

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Prevalence and clinical phenotype of hereditary transthyretin amyloid cardiomyopathy in patients with increased left ventricular wall thickness

European heart journal, 2016-06, Vol.37 (23), p.1826-1834

2016

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Pleiotropic and diverse expression of ZFHX1B gene transcripts during mouse and human development supports the various clinical manifestations of the “Mowat–Wilson” syndrome

Neurobiology of disease, 2004-03, Vol.15 (2), p.240-250

2004

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Chronic hemolytic anemia due to novel α-globin chain variants: critical location of the mutation within the gene sequence for a dominant effect

Haematologica (Roma), 2009-11, Vol.94 (11), p.1624-1625

2009

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Steps toward restoring functional dystrophin expression

Human mutation, 2009-01, Vol.30 (1), p.vii-vii

Goossens, Michel

2009

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Loss-of-Function Mutations in SOX10 Cause Kallmann Syndrome with Deafness

American journal of human genetics, 2013-05, Vol.92 (5), p.707-724

2013

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Review and update of mutations causing Waardenburg syndrome

Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4

Genetic interaction between Sox10 and Zfhx1b during enteric nervous system development

ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome

Interactions between Sox10, Edn3 and Ednrb during enteric nervous system and melanocyte development

COMMD1-mediated ubiquitination regulates CFTR trafficking

Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes

Alternative splicing at a NAGNAG acceptor site as a novel phenotype modifier

Screening of MITF and SOX10 regulatory regions in Waardenburg syndrome type 2

Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C

Loss-of-Function Mutations in a Human Gene Related to Chlamydomonas reinhardtii Dynein IC78 Result in Primary Ciliary Dyskinesia

Mutation of the Sry-Related Sox10 Gene in Dominant megacolon, a Mouse Model for Human Hirschsprung Disease

IL-4 Is a Potent Modulator of Ion Transport in the Human Bronchial Epithelium In Vitro

A study of 36 unrelated cases with pure erythrocytosis revealed three new mutations in the erythropoietin receptor gene

SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism

One hundred spots parallel monitoring of DNA interactions by SPR imaging of polymer-functionalized surfaces applied to the detection of cystic fibrosis mutations

Regenerating optic axons restore topography after incomplete optic nerve injury

Connexin 32 promoter P2 mutations: A mechanism of peripheral nerve dysfunction

Functional Analysis of Sox10 Mutations Found in Human Waardenburg-Hirschsprung Patients

A recurrent deep-intronic splicing CF mutation emphasizes the importance of mRNA studies in clinical practice

Prevalence and clinical phenotype of hereditary transthyretin amyloid cardiomyopathy in patients with increased left ventricular wall thickness

Pleiotropic and diverse expression of ZFHX1B gene transcripts during mouse and human development supports the various clinical manifestations of the “Mowat–Wilson” syndrome

Chronic hemolytic anemia due to novel α-globin chain variants: critical location of the mutation within the gene sequence for a dominant effect

Steps toward restoring functional dystrophin expression

Loss-of-Function Mutations in SOX10 Cause Kallmann Syndrome with Deafness

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