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Epidermodysplasia Verruciformis: Genetic Heterogeneity and EVER1 and EVER2 Mutations Revealed by Genome-Wide Analysis

Journal of investigative dermatology, 2019-01, Vol.139 (1), p.241-244

2019

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Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Sorèze 2009

Journal of the American Academy of Dermatology, 2010-10, Vol.63 (4), p.607-641

2010

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Two New Loci for Autosomal Recessive Ichthyosis on Chromosomes 3p21 and 19p12-q12 and Evidence for Further Genetic Heterogeneity

American journal of human genetics, 2000-03, Vol.66 (3), p.904-913

2000

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Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2

Human molecular genetics, 2003-09, Vol.12 (18), p.2369-2378

2003

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Connexin30 mutations responsible for hidrotic ectodermal dysplasia cause abnormal hemichannel activity

Human molecular genetics, 2004-08, Vol.13 (16), p.1703-1714

2004

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Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1

Human molecular genetics, 2002-01, Vol.11 (1), p.107-113

2002

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Autosomal recessive lamellar ichthyosis: identification of a new mutation in transglutaminase 1 and evidence for genetic heterogeneity

Human molecular genetics, 1995-08, Vol.4 (8), p.1391-1395

1995

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Prenatal diagnosis of pyloric atresia-junctional epidermolysis bullosa syndrome in a fetus not known to be at risk

Prenatal diagnosis, 2000-01, Vol.20 (1), p.70-75

2000

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Mutations in GJB6 cause hidrotic ectodermal dysplasia

Nature genetics, 2000-10, Vol.26 (2), p.142-144

2000

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Comparison of the Capsular Response to the Biocell RTV and Mentor 1600 Siltex Breast Implant Surface Texturing: A Scanning Electron Microscopic Study

Plastic and reconstructive surgery (1963), 2001-12, Vol.108 (7), p.2047-2052

2001

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Inherited connective tissue diseases highlight macromolecular network interdependences in skin extracellular matrix: a histomorphometric study

Journal of histotechnology, 2022-04, Vol.45 (2), p.66-76

2022

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Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1

Human molecular genetics, 2002, Vol.11 (1), p.107-113

2002

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Familial occurrence of KID (keratitis, ichthyosis, deafness) syndrome

Journal of the American Academy of Dermatology, 1990-08, Vol.23 (2), p.385-388

1990

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Poikiloderma of Theresa Kindler: Report of a Case with Ultrastrectural Study, and Review of the Literature

Pediatric dermatology, 1989-06, Vol.6 (2), p.82-90

1989

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Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndrome

American journal of medical genetics, 1998-01, Vol.75 (3), p.265-272

1998

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Mapping of a Second Locus for Lamellar Ichthyosis to Chromosome 2q33–35

Human molecular genetics, 1996-04, Vol.5 (4), p.555-559

1996

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Novel Point Mutations, Deletions, and Polymorphisms in the Cathepsin C Gene in Nine Families from Europe and North Africa with Papillon–Lefèvre Syndrome

Journal of investigative dermatology, 2001-12, Vol.117 (6), p.1657-1661

2001

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Genetic linkage of recessive dystrophic epidermolysis bullosa to the type VII collagen gene

The Journal of clinical investigation, 1992-09, Vol.90 (3), p.1032-1036

1992

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Acitretin in the treatment of severe disorders of keratinization

Journal of the American Academy of Dermatology, 1991-06, Vol.24 (6), p.982-986

1991

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Hereditary epidermolytic palmoplantar keratoderma associated with breast and ovarian cancer in a large kindred

British journal of dermatology (1951), 1987-09, Vol.117 (3), p.363-370

1987

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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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Mapping of Papillon-Lefevre syndrome to the chromosome 11q14 region

European journal of human genetics : EJHG, 1997-05, Vol.5 (3), p.156-160

1997

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Herlitz junctional epidermolysis bullosa keratinocytes display heterogeneous defects of nicein/kalinin gene expression

The Journal of clinical investigation, 1994-02, Vol.93 (2), p.862-869

1994

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Skin manifestations of cardio-facio-cutaneous syndrome

Journal of the American Academy of Dermatology, 1993-05, Vol.28 (5), p.815-819

1993

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Predominance of the Recurrent Mutation R635X in the LAMB3 Gene in European Patients with Herlitz Junctional Epidermolysis Bullosa Has Implications for Mutation Detection Strategy

Journal of investigative dermatology, 1997-08, Vol.109 (2), p.232-237

1997

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Epidermodysplasia Verruciformis: Genetic Heterogeneity and EVER1 and EVER2 Mutations Revealed by Genome-Wide Analysis

Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Sorèze 2009

Two New Loci for Autosomal Recessive Ichthyosis on Chromosomes 3p21 and 19p12-q12 and Evidence for Further Genetic Heterogeneity

Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2

Connexin30 mutations responsible for hidrotic ectodermal dysplasia cause abnormal hemichannel activity

Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1

Autosomal recessive lamellar ichthyosis: identification of a new mutation in transglutaminase 1 and evidence for genetic heterogeneity

Prenatal diagnosis of pyloric atresia-junctional epidermolysis bullosa syndrome in a fetus not known to be at risk

Mutations in GJB6 cause hidrotic ectodermal dysplasia

Comparison of the Capsular Response to the Biocell RTV and Mentor 1600 Siltex Breast Implant Surface Texturing: A Scanning Electron Microscopic Study

Inherited connective tissue diseases highlight macromolecular network interdependences in skin extracellular matrix: a histomorphometric study

Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1

Familial occurrence of KID (keratitis, ichthyosis, deafness) syndrome

Poikiloderma of Theresa Kindler: Report of a Case with Ultrastrectural Study, and Review of the Literature

Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndrome

Mapping of a Second Locus for Lamellar Ichthyosis to Chromosome 2q33–35

Novel Point Mutations, Deletions, and Polymorphisms in the Cathepsin C Gene in Nine Families from Europe and North Africa with Papillon–Lefèvre Syndrome

Genetic linkage of recessive dystrophic epidermolysis bullosa to the type VII collagen gene

Acitretin in the treatment of severe disorders of keratinization

Hereditary epidermolytic palmoplantar keratoderma associated with breast and ovarian cancer in a large kindred

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

Mapping of Papillon-Lefevre syndrome to the chromosome 11q14 region

Herlitz junctional epidermolysis bullosa keratinocytes display heterogeneous defects of nicein/kalinin gene expression

Skin manifestations of cardio-facio-cutaneous syndrome

Predominance of the Recurrent Mutation R635X in the LAMB3 Gene in European Patients with Herlitz Junctional Epidermolysis Bullosa Has Implications for Mutation Detection Strategy

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