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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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A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17

Nature genetics, 1995-01, Vol.9 (1), p.86-91

1995

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Mouse and hamster mutants as models for Waardenburg syndromes in humans

Journal of medical genetics, 1990-10, Vol.27 (10), p.618-626

1990

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Apparent Digenic Inheritance of Waardenburg Syndrome Type 2 (WS2) and Autosomal Recessive Ocular Albinism (AROA)

Human molecular genetics, 1997-05, Vol.6 (5), p.659-664

1997

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Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium

American journal of human genetics, 1992-05, Vol.50 (5), p.902-913

1992

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Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome

Human mutation, 1996, Vol.7 (1), p.30-35

1996

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Mutation at the anophthalmic white locus in Syrian hamsters : haploinsufficiency in the Mitf gene mimics human Waardenburg syndrome type 2

Human molecular genetics, 1998-04, Vol.7 (4), p.703-708

1998

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A frameshift mutation in the HuP2 paired domain of the probable human homolog of murine Pax-3 is responsible for Waardenburg syndrome type 1 in an Indonesian family

Human molecular genetics, 1992-07, Vol.1 (4), p.243-247

1992

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Effects of Pax3 modifier genes on craniofacial morphology, pigmentation, and viability : A murine model of Waardenburg syndrome variation

Genomics (San Diego, Calif.), 1996-06, Vol.34 (3), p.285-298

1996

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Congenital non-syndromal autosomal recessive deafness in Bengkala, an isolated Balinese village

Journal of medical genetics, 1995-05, Vol.32 (5), p.336-343

1995

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Human inner ear OCP2 cDNA maps to 5q22-5q35.2 with related sequences on chromosomes 4p16.2-4p14, 5p13-5q22, 7pter-q22, 10 and 12p13-12qter

Gene, 1997-01, Vol.184 (2), p.163-167

1997

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Analysis of short tandem repeat (STR) allele frequency distributions in a Balinese population

Human molecular genetics, 1995, Vol.4 (1), p.85-91

1995

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Locus heterogeneity for waardenburg syndrome is predictive of clinical subtypes

American journal of human genetics, 1994-10, Vol.55 (4), p.728-737

1994

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Septo-optic dysplasia and WS1 in the proband of a WS1 family segregating for a novel mutation in PAX3 exon 7

Journal of medical genetics, 1998-03, Vol.35 (3), p.248-250

1998

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The incidence of deafness is non-randomly distributed among families segregating for Waardenburg syndrome type 1 (WS1)

Journal of medical genetics, 1997-06, Vol.34 (6), p.447-452

1997

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The Primary Ultrastructural Defect Caused by Anophthalmic White (Wh) in the Syrian Hamster

Proceedings of the National Academy of Sciences - PNAS, 1982-07, Vol.79 (14), p.4371-4375

1982

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A plus-one frameshift mutation in PAX3 alters the entire deduced amino acid sequence of the paired box in a Waardenburg syndrome type 1 (WS1) family

Human molecular genetics, 1993-09, Vol.2 (9), p.1487-1488

1993

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A Comparison of Some Serological and Biological Properties of Seven Isolates of Tobacco Ringspot Virus

Journal of phytopathology, 1983-08, Vol.107 (4), p.298-300

1983

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Three mutations in the paired homeodomain of PAX3 that cause Waardenburg syndrome type 1

Human heredity, 1997-01, Vol.47 (1), p.38

1997

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A highly informative dinucleotide repeat polymorphism at the D2S211 locus linked to ALPP, FN1 and TNP1

Human molecular genetics, 1993-01, Vol.2 (1), p.88-88

1993

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Dinucleotide repeat polymorphism at D14S542

Human molecular genetics, 1994-09, Vol.3 (9), p.1712-1712

1994

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Effects of pinealectomy on reproduction in the Syrian hamster mutant anophthalmic white (Wh)

American journal of anatomy, 1983-08, Vol.167 (4), p.523-538

1983

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A plus-one frameshift mutation in PAX3 alters the entire deduced amino acid sequence of the paired box in a Waardenburg syndrome type 1 (WS1) family

Human molecular genetics, 1993-09, Vol.2 (9), p.1487-1488

1993

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Confirmation of the location of a Waardenburg syndrome type I mutation on human chromosome 2q. Tight linkage to FN1 and ALPP

Annals of the New York Academy of Sciences, 1991, Vol.630 (1), p.295-297

1991

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Waardenburg syndrome (WS): the analysis of a single family with a WS1 mutation showing linkage to RFLP markers on human chromosome 2q

American journal of human genetics, 1991-01, Vol.48 (1), p.43-52

1991

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

A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17

Mouse and hamster mutants as models for Waardenburg syndromes in humans

Apparent Digenic Inheritance of Waardenburg Syndrome Type 2 (WS2) and Autosomal Recessive Ocular Albinism (AROA)

Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium

Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome

Mutation at the anophthalmic white locus in Syrian hamsters : haploinsufficiency in the Mitf gene mimics human Waardenburg syndrome type 2

A frameshift mutation in the HuP2 paired domain of the probable human homolog of murine Pax-3 is responsible for Waardenburg syndrome type 1 in an Indonesian family

Effects of Pax3 modifier genes on craniofacial morphology, pigmentation, and viability : A murine model of Waardenburg syndrome variation

Congenital non-syndromal autosomal recessive deafness in Bengkala, an isolated Balinese village

Human inner ear OCP2 cDNA maps to 5q22-5q35.2 with related sequences on chromosomes 4p16.2-4p14, 5p13-5q22, 7pter-q22, 10 and 12p13-12qter

Analysis of short tandem repeat (STR) allele frequency distributions in a Balinese population

Locus heterogeneity for waardenburg syndrome is predictive of clinical subtypes

Septo-optic dysplasia and WS1 in the proband of a WS1 family segregating for a novel mutation in PAX3 exon 7

The incidence of deafness is non-randomly distributed among families segregating for Waardenburg syndrome type 1 (WS1)

The Primary Ultrastructural Defect Caused by Anophthalmic White (Wh) in the Syrian Hamster

A plus-one frameshift mutation in PAX3 alters the entire deduced amino acid sequence of the paired box in a Waardenburg syndrome type 1 (WS1) family

A Comparison of Some Serological and Biological Properties of Seven Isolates of Tobacco Ringspot Virus

Three mutations in the paired homeodomain of PAX3 that cause Waardenburg syndrome type 1

A highly informative dinucleotide repeat polymorphism at the D2S211 locus linked to ALPP, FN1 and TNP1

Dinucleotide repeat polymorphism at D14S542

Effects of pinealectomy on reproduction in the Syrian hamster mutant anophthalmic white (Wh)

A plus-one frameshift mutation in PAX3 alters the entire deduced amino acid sequence of the paired box in a Waardenburg syndrome type 1 (WS1) family

Confirmation of the location of a Waardenburg syndrome type I mutation on human chromosome 2q. Tight linkage to FN1 and ALPP

Waardenburg syndrome (WS): the analysis of a single family with a WS1 mutation showing linkage to RFLP markers on human chromosome 2q

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