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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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Developmental defects in gorlin syndrome related to a putative tumor suppressor gene on chromosome 9

Cell, 1992-04, Vol.69 (1), p.111-117

1992

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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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Incidence of BRCA1 and BRCA2 Mutations in Young Korean Breast Cancer Patients

Journal of clinical oncology, 2004-05, Vol.22 (9), p.1638-1645

2004

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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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Re-evaluation of the linkage relationship between chromosome 11p loci and the gene for bipolar affective disorder in the Old Order Amish

Nature (London), 1989-11, Vol.342 (6247), p.238-243

1989

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Loss of Alleles from the Distal Short Arm of Chromosome 1 Occurs Late in Melanoma Tumor Progression

Proceedings of the National Academy of Sciences - PNAS, 1989-06, Vol.86 (12), p.4614-4618

1989

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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

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Linkage Studies in Erythrokeratodermias: Fine Mapping, Genetic Heterogeneity, and Analysis of Candidate Genes

Journal of investigative dermatology, 1997-11, Vol.109 (5), p.666-671

1997

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Familial medullary thyroid carcinoma: Presymptomatic diagnosis and management in children

The Journal of pediatrics, 1999-09, Vol.135 (3), p.327-331

1999

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A base mutation of the C-erbaβ thyroid hormone receptor in a kindred with generalized thyroid hormone resistance: molecular heterogeneity in two other kindreds

The Journal of clinical investigation, 1990, Vol.85 (1), p.93-100

1990

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Tight linkage between the syndrome of generalized thyroid hormone resistance and the human c-erbAβ gene

Molecular endocrinology (Baltimore, Md.), 1988-12, Vol.2 (12), p.1217-1220

1988

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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

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Analysis of gonadotropin-releasing hormone gene structure in families with familial central precocious puberty and idiopathic hypogonadotropic hypogonadism

The journal of clinical endocrinology and metabolism, 1990-05, Vol.70 (5), p.1233-1238

1990

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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

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Tight linkage of the human c-erbAβ gene with the syndrome of generalized thyroid hormone resistance is present in multiple kindreds

Journal of endocrinological investigation, 1991-03, Vol.14 (3), p.219-223

1991

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Investigating the genetic basis for ankylosing spondylitis. Linkage studies with the major histocompatibility complex region

Arthritis and rheumatism, 1994-08, Vol.37 (8), p.1212-1220

1994

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On the detection of excess disease risk in family data

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

1987

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Rheumatoid arthritis in the Pima Indians: The intersection of epidemiologic, demographic, and genealogic data

Arthritis and rheumatism, 1998-08, Vol.41 (8), p.1464-1469

1998

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

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

Developmental defects in gorlin syndrome related to a putative tumor suppressor gene on chromosome 9

Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis

Incidence of BRCA1 and BRCA2 Mutations in Young Korean Breast Cancer Patients

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

Re-evaluation of the linkage relationship between chromosome 11p loci and the gene for bipolar affective disorder in the Old Order Amish

Loss of Alleles from the Distal Short Arm of Chromosome 1 Occurs Late in Melanoma Tumor Progression

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

Linkage Studies in Erythrokeratodermias: Fine Mapping, Genetic Heterogeneity, and Analysis of Candidate Genes

Familial medullary thyroid carcinoma: Presymptomatic diagnosis and management in children

A base mutation of the C-erbaβ thyroid hormone receptor in a kindred with generalized thyroid hormone resistance: molecular heterogeneity in two other kindreds

Tight linkage between the syndrome of generalized thyroid hormone resistance and the human c-erbAβ gene

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

Analysis of gonadotropin-releasing hormone gene structure in families with familial central precocious puberty and idiopathic hypogonadotropic hypogonadism

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

Tight linkage of the human c-erbAβ gene with the syndrome of generalized thyroid hormone resistance is present in multiple kindreds

Investigating the genetic basis for ankylosing spondylitis. Linkage studies with the major histocompatibility complex region

On the detection of excess disease risk in family data

Rheumatoid arthritis in the Pima Indians: The intersection of epidemiologic, demographic, and genealogic data

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