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Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris

Nature genetics, 2006-03, Vol.38 (3), p.337-342

2006

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The role of the human homologue of Drosophila patched in sporadic basal cell carcinomas

Nature genetics, 1996-09, Vol.14 (1), p.78-81

1996

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Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis

Nature genetics, 1998-12, Vol.20 (4), p.366-369

1998

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Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog

Journal of medical genetics, 2012-07, Vol.49 (7), p.473-479

2012

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Novel transglutaminase-1 mutations and genotype–phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA

Journal of medical genetics, 2009-02, Vol.46 (2), p.103-111

2009

Volltextzugriff (PDF)

Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma

Human genetics, 1998-10, Vol.103 (4), p.393-399

1998

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A two-hit model for developmental defects in Gorlin syndrome

Nature genetics, 1996-01, Vol.12 (1), p.85-87

1996

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Mutations in ZIC2 in human holoprosencephaly: description of a Novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals

Journal of medical genetics, 2010-08, Vol.47 (8), p.513-524

2010

Volltextzugriff (PDF)

Keratin 13 point mutation underlies the hereditary mucosal epithelia disorder white sponge nevus

Nature genetics, 1995-12, Vol.11 (4), p.453-455

1995

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Molecular analysis of cystinuria in Libyan Jews: Exclusion of the SLC3A1 gene and mapping of a new locus on 19q

American journal of human genetics, 1997-03, Vol.60 (3), p.617-624

1997

Volltextzugriff (PDF)

Molecular definition of a chromosome 9p21 germ-line deletion in a woman with multiple melanomas and a plexiform neurofibroma : implications for 9p tumor-suppressor gene(s)

American journal of human genetics, 1993-07, Vol.53 (1), p.96-104

1993

Volltextzugriff (PDF)

Relationship between head circumference and height in normal adults and in the nevoid basal cell carcinoma syndrome and neurofibromatosis type I

American journal of medical genetics, 1991-08, Vol.40 (2), p.206-210

1991

Volltextzugriff (PDF)

A locus for familial hypertrophic cardiomyopathy is closely linked to the cardiac myosin heavy chain genes, CRI-L436, and CRI-L329 on chromosome 14 at q11-q12

American journal of human genetics, 1990-09, Vol.47 (3), p.389-394

1990

Volltextzugriff (PDF)

Availability of schizophrenic patients and their families for genetic linkage studies: Findings from the Maryland epidemiology sample

Genetic epidemiology, 1989, Vol.6 (6), p.671-680

1989

Volltextzugriff (PDF)

Sister chromatid exchange and chromosome fragility in the nevoid basal cell carcinoma syndrome

Cancer genetics and cytogenetics, 1989-10, Vol.42 (2), p.273-279

1989

Volltextzugriff (PDF)

Genetic linkage studies with neurofibromatosis: the question of heterogeneity

Journal of medical genetics, 1987-09, Vol.24 (9), p.527-529

1987

Volltextzugriff (PDF)

The distribution of debrisoquine metabolic phenotypes and implications for the suggested association with lung cancer risk

Genetic epidemiology, 1989, Vol.6 (4), p.517-524

1989

Volltextzugriff (PDF)

On the detection of excess disease risk in family data

Genetic epidemiology, 1987, Vol.4 (6), p.447-453

1987

Volltextzugriff (PDF)

Familial Sotos syndrome (cerebral gigantism): Craniofacial and psychological characteristics

American journal of medical genetics, 1985-04, Vol.20 (4), p.613-624

1985

Volltextzugriff (PDF)

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Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris

The role of the human homologue of Drosophila patched in sporadic basal cell carcinomas

Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis

Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis

Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog

Novel transglutaminase-1 mutations and genotype–phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA

Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma

A two-hit model for developmental defects in Gorlin syndrome

Mutations in ZIC2 in human holoprosencephaly: description of a Novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals

Keratin 13 point mutation underlies the hereditary mucosal epithelia disorder white sponge nevus

Molecular analysis of cystinuria in Libyan Jews: Exclusion of the SLC3A1 gene and mapping of a new locus on 19q

Molecular definition of a chromosome 9p21 germ-line deletion in a woman with multiple melanomas and a plexiform neurofibroma : implications for 9p tumor-suppressor gene(s)

Relationship between head circumference and height in normal adults and in the nevoid basal cell carcinoma syndrome and neurofibromatosis type I

A locus for familial hypertrophic cardiomyopathy is closely linked to the cardiac myosin heavy chain genes, CRI-L436, and CRI-L329 on chromosome 14 at q11-q12

Availability of schizophrenic patients and their families for genetic linkage studies: Findings from the Maryland epidemiology sample

Sister chromatid exchange and chromosome fragility in the nevoid basal cell carcinoma syndrome

Genetic linkage studies with neurofibromatosis: the question of heterogeneity

The distribution of debrisoquine metabolic phenotypes and implications for the suggested association with lung cancer risk

On the detection of excess disease risk in family data

Familial Sotos syndrome (cerebral gigantism): Craniofacial and psychological characteristics

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