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Compound Heterozygosity for a Recurrent 16.5-kb Alu-Mediated Deletion Mutation and Single-Base-Pair Substitutions in the ABCC6 Gene Results in Pseudoxanthoma Elasticum

American journal of human genetics, 2001-03, Vol.68 (3), p.642-652

2001

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Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance

American journal of human genetics, 1996-04, Vol.58 (4), p.671-681

1996

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Missense Mutations in GJB2 Encoding Connexin-26 Cause the Ectodermal Dysplasia Keratitis-Ichthyosis-Deafness Syndrome

American journal of human genetics, 2002-05, Vol.70 (5), p.1341-1348

2002

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A Deleterious Mutation in SAMD9 Causes Normophosphatemic Familial Tumoral Calcinosis

American journal of human genetics, 2006-10, Vol.79 (4), p.759-764

2006

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Naegeli-Franceschetti-Jadassohn Syndrome and Dermatopathia Pigmentosa Reticularis: Two Allelic Ectodermal Dysplasias Caused by Dominant Mutations in KRT14

American journal of human genetics, 2006-10, Vol.79 (4), p.724-730

2006

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Genetic Heterogeneity of Cutis Laxa: A Heterozygous Tandem Duplication within the Fibulin-5 (FBLN5) Gene

American journal of human genetics, 2003-04, Vol.72 (4), p.998-1004

2003

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Recurrent nonsense mutations within the type VII collagen gene in patients with severe recessive dystrophic epidermolysis bullosa

American journal of human genetics, 1994-08, Vol.55 (2), p.289-296

1994

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Compound heterozygosity for COL7A1 mutations in twins with dystrophic epidermolysis bullosa : a recessive paternal deletion/insertion mutation and a dominant negative maternal glycine substitution result in a severe phenotype

American journal of human genetics, 1996-04, Vol.58 (4), p.682-693

1996

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Novel ITGB4 Mutations in Lethal and Nonlethal Variants of Epidermolysis Bullosa with Pyloric Atresia: Missense versus Nonsense

American journal of human genetics, 1998-11, Vol.63 (5), p.1376-1387

1998

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Characterization of 18 New Mutations in COL7A1 in Recessive Dystrophic Epidermolysis Bullosa Provides Evidence for Distinct Molecular Mechanisms Underlying Defective Anchoring Fibril Formation

American journal of human genetics, 1997-09, Vol.61 (3), p.599-610

1997

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Genetic linkage analysis of hereditary arthro-ophthalmopathy (Stickler syndrome) and the type II procollagen gene

American journal of human genetics, 1989-11, Vol.45 (5), p.681-688

1989

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Maternal Uniparental Disomy of Chromosome 1 with Reduction to Homozygosity of the LAMB3 Locus in a Patient with Herlitz Junctional Epidermolysis Bullosa

American journal of human genetics, 1997-09, Vol.61 (3), p.611-619

1997

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Cloning of the human type XVII collagen gene (COL17A1), and detection of novel mutations in generalized atrophic benign epidermolysis bullosa

American journal of human genetics, 1997-02, Vol.60 (2), p.352-365

1997

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Three Novel Homozygous Point Mutations and a New Polymorphism in the COL17A1 Gene: Relation to Biological and Clinical Phenotypes of Junctional Epidermolysis Bullosa

American journal of human genetics, 1997-06, Vol.60 (6), p.1344-1353

1997

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The Gene for Hypotrichosis of Marie Unna Maps between D8S258 and D8S298: Exclusion of the hr Gene by cDNA and Genomic Sequencing

American journal of human genetics, 1999-08, Vol.65 (2), p.413-419

1999

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Human type VII collagen : genetic linkage of the gene (COL7AI) on chromosome 3 to dominant dystrophic epidermolysis bullosa

American journal of human genetics, 1991-10, Vol.49 (4), p.797-803

1991

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Human elastin gene : new evidence for localization to the long arm of chromosome 7

American journal of human genetics, 1991-04, Vol.48 (4), p.696-703

1991

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Mapping of epidermolysis bullosa simplex mutation to chromosome 12

American journal of human genetics, 1991-11, Vol.49 (5), p.978-984

1991

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Three novel homozygous point mutations and a new polymorphism in the COL17A1 gene : Relation to biological and clinical phenotypes of functional epidermolysis bullosa

American journal of human genetics, 1997, Vol.60 (6), p.1344-1353

1997

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Human nidogen: cDNA cloning, cellular expression, and mapping of the gene to chromosome Iq43

American journal of human genetics, 1989-06, Vol.44 (6), p.876-885

1989

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Human nidogen: cDNA cloning, cellular expression, and mapping of the gene to chromosome lq43

American journal of human genetics, 1989, Vol.44 (6), p.876-885

1989

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Cole Disease Results from Mutations in ENPP1

American journal of human genetics, 2013-10, Vol.93 (4), p.752-757

2013

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Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-lchthyosis-deafness syndrome

American journal of human genetics, 2002, Vol.70 (5), p.1341-1348

2002

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Compound Heterozygosity for a Recurrent 16.5-kb Alu-Mediated Deletion Mutation and Single-Base-Pair Substitutions in the ABCC6 Gene Results in Pseudoxanthoma Elasticum

Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance

Missense Mutations in GJB2 Encoding Connexin-26 Cause the Ectodermal Dysplasia Keratitis-Ichthyosis-Deafness Syndrome

A Deleterious Mutation in SAMD9 Causes Normophosphatemic Familial Tumoral Calcinosis

Naegeli-Franceschetti-Jadassohn Syndrome and Dermatopathia Pigmentosa Reticularis: Two Allelic Ectodermal Dysplasias Caused by Dominant Mutations in KRT14

Genetic Heterogeneity of Cutis Laxa: A Heterozygous Tandem Duplication within the Fibulin-5 (FBLN5) Gene

Recurrent nonsense mutations within the type VII collagen gene in patients with severe recessive dystrophic epidermolysis bullosa

Compound heterozygosity for COL7A1 mutations in twins with dystrophic epidermolysis bullosa : a recessive paternal deletion/insertion mutation and a dominant negative maternal glycine substitution result in a severe phenotype

Novel ITGB4 Mutations in Lethal and Nonlethal Variants of Epidermolysis Bullosa with Pyloric Atresia: Missense versus Nonsense

Characterization of 18 New Mutations in COL7A1 in Recessive Dystrophic Epidermolysis Bullosa Provides Evidence for Distinct Molecular Mechanisms Underlying Defective Anchoring Fibril Formation

Genetic linkage analysis of hereditary arthro-ophthalmopathy (Stickler syndrome) and the type II procollagen gene

Maternal Uniparental Disomy of Chromosome 1 with Reduction to Homozygosity of the LAMB3 Locus in a Patient with Herlitz Junctional Epidermolysis Bullosa

Cloning of the human type XVII collagen gene (COL17A1), and detection of novel mutations in generalized atrophic benign epidermolysis bullosa

Three Novel Homozygous Point Mutations and a New Polymorphism in the COL17A1 Gene: Relation to Biological and Clinical Phenotypes of Junctional Epidermolysis Bullosa

The Gene for Hypotrichosis of Marie Unna Maps between D8S258 and D8S298: Exclusion of the hr Gene by cDNA and Genomic Sequencing

Human type VII collagen : genetic linkage of the gene (COL7AI) on chromosome 3 to dominant dystrophic epidermolysis bullosa

Human elastin gene : new evidence for localization to the long arm of chromosome 7

Mapping of epidermolysis bullosa simplex mutation to chromosome 12

Three novel homozygous point mutations and a new polymorphism in the COL17A1 gene : Relation to biological and clinical phenotypes of functional epidermolysis bullosa

Human nidogen: cDNA cloning, cellular expression, and mapping of the gene to chromosome Iq43

Human nidogen: cDNA cloning, cellular expression, and mapping of the gene to chromosome lq43

Cole Disease Results from Mutations in ENPP1

Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-lchthyosis-deafness syndrome

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