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Waardenburg syndrome

Journal of medical genetics, 1997-08, Vol.34 (8), p.656-665

1997

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Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis

Nature genetics, 1999-12, Vol.23 (4), p.421-424

1999

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Apparent prevention of neural tube defects by periconceptional vitamin supplementation

International journal of epidemiology, 2011-10, Vol.40 (5), p.1146-1154

2011

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SOX10 mutations in patients with Waardenburg-Hirschsprung disease

Nature genetics, 1998-02, Vol.18 (2), p.171-173

1998

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A Molecular Analysis of the Yemenite Deaf-Blind Hypopigmentation Syndrome: SOX10 Dysfunction Causes Different Neurocristopathies

Human molecular genetics, 1999-09, Vol.8 (9), p.1785-1789

1999

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Mutations in PAX1 may be associated with Klippel-Feil syndrome

European journal of human genetics : EJHG, 2003-06, Vol.11 (6), p.468-474

2003

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Abnormal gonadal morphology in intersex, Echinogammarus marinus (Amphipoda): a possible cause of reduced fecundity?

Marine biology, 2005-08, Vol.147 (4), p.913-918

2005

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The costs of intersexuality: a crustacean perspective

Marine biology, 2004-10, Vol.145 (5), p.951-957

2004

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The mutational spectrum in Waardenburg syndrome

Human molecular genetics, 1995-11, Vol.4 (11), p.2131-2137

1995

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Novel Mutations in the 1α‐Hydroxylase (P450c1) Gene in Three Families with Pseudovitamin D–Deficiency Rickets Resulting in Loss of Functional Enzyme Activity in Blood‐Derived Macrophages

Journal of bone and mineral research, 1999-05, Vol.14 (5), p.730-739

1999

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Elastin: Genomic Structure and Point Mutations in Patients with Supravalvular Aortic Stenosis

Human molecular genetics, 1997-07, Vol.6 (7), p.1029-1036

1997

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Distribution of Mutations in the PEX Gene in Families with X-linked Hypophosphataemic Rickets (HYP)

Human molecular genetics, 1997-04, Vol.6 (4), p.539-549

1997

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Dynamic changes in arousal threshold during sleep in the human infant

Pediatric research, 1998-05, Vol.43 (5), p.697-703

1998

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PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse

Human molecular genetics, 1994-07, Vol.3 (7), p.1069-1074

1994

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SLUG (SNAI2) deletions in patients with Waardenburg disease

Human molecular genetics, 2002-12, Vol.11 (25), p.3231-3236

2002

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Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene

Nature genetics, 1994-11, Vol.8 (3), p.251-255

1994

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The recovery of populations of dogwhelks suffering from imposex in the Firth of Forth 1987–1997/98

Environmental pollution (1987), 1999, Vol.106 (2), p.183-192

1999

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Deletion mapping on the short arm of chromosome 3 in squamous cell carcinoma of the oral cavity

Cancer research (Chicago, Ill.), 1994-12, Vol.54 (24), p.6484-6488

1994

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Waardenburg syndrome type 2 in a Turkish family: implications for the importance of the pattern of fundus pigmentation

British journal of ophthalmology, 2001-11, Vol.85 (11), p.1384-1384

2001

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Hypomelanosis of Ito: a manifestation of mosaicism or chimerism

Journal of medical genetics, 1988-12, Vol.25 (12), p.809-818

1988

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A Complete Physical Contig and Partial Transcript Map of the Williams Syndrome Critical Region

Genomics (San Diego, Calif.), 1999-06, Vol.58 (2), p.138-145

1999

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Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene

Nature (London), 1992-02, Vol.355 (6361), p.635-636

1992

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A gene ( PEX ) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets

Nature genetics, 1995-10, Vol.11 (2), p.130-136

1995

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Hereditary deafness: lessons for developmental studies and genetic diagnosis

European journal of pediatrics, 2000-12, Vol.159 Suppl 3 (S3), p.S232-S235

Read, A P

2000

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Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations

Human genetics, 1998-05, Vol.102 (5), p.499-506

1998

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Waardenburg syndrome

Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis

Apparent prevention of neural tube defects by periconceptional vitamin supplementation

SOX10 mutations in patients with Waardenburg-Hirschsprung disease

A Molecular Analysis of the Yemenite Deaf-Blind Hypopigmentation Syndrome: SOX10 Dysfunction Causes Different Neurocristopathies

Mutations in PAX1 may be associated with Klippel-Feil syndrome

Abnormal gonadal morphology in intersex, Echinogammarus marinus (Amphipoda): a possible cause of reduced fecundity?

The costs of intersexuality: a crustacean perspective

The mutational spectrum in Waardenburg syndrome

Novel Mutations in the 1α‐Hydroxylase (P450c1) Gene in Three Families with Pseudovitamin D–Deficiency Rickets Resulting in Loss of Functional Enzyme Activity in Blood‐Derived Macrophages

Elastin: Genomic Structure and Point Mutations in Patients with Supravalvular Aortic Stenosis

Distribution of Mutations in the PEX Gene in Families with X-linked Hypophosphataemic Rickets (HYP)

Dynamic changes in arousal threshold during sleep in the human infant

PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse

SLUG (SNAI2) deletions in patients with Waardenburg disease

Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene

The recovery of populations of dogwhelks suffering from imposex in the Firth of Forth 1987–1997/98

Deletion mapping on the short arm of chromosome 3 in squamous cell carcinoma of the oral cavity

Waardenburg syndrome type 2 in a Turkish family: implications for the importance of the pattern of fundus pigmentation

Hypomelanosis of Ito: a manifestation of mosaicism or chimerism

A Complete Physical Contig and Partial Transcript Map of the Williams Syndrome Critical Region

Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene

A gene ( PEX ) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets

Hereditary deafness: lessons for developmental studies and genetic diagnosis

Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations

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