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CEDNIK syndrome results from loss-of-function mutations in SNAP29

British journal of dermatology (1951), 2011-03, Vol.164 (3), p.610-616

2011

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Morphological alterations in two siblings with autosomal recessive congenital ichthyosis associated with CYP4F22 mutations

British journal of dermatology (1951), 2017-04, Vol.176 (4), p.1068-1073

2017

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The importance of genetic susceptibility in Dupuytren's disease

Clinical genetics, 2015-05, Vol.87 (5), p.483-487

2015

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Dyschromatosis universalis hereditaria: evidence for autosomal recessive inheritance and identification of a new locus on chromosome 12q21-q23

Clinical genetics, 2008-06, Vol.73 (6), p.566-572

2008

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Haplotype analysis in western European patients with mal de Meleda: founder effect for the W15R mutation in the SLURP1 gene

British journal of dermatology (1951), 2013-06, Vol.168 (6), p.1372-1374

2013

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Quality of life and clinical characteristics of self‐improving congenital ichthyosis within the disease spectrum of autosomal‐recessive congenital ichthyosis

Journal of the European Academy of Dermatology and Venereology, 2022-04, Vol.36 (4), p.582-591

2022

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HID and KID syndromes are associated with the same connexin 26 mutation

British journal of dermatology (1951), 2002-06, Vol.146 (6), p.938-942

2002

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Towards characterization of palmoplantar keratoderma caused by gain‐of‐function mutation in loricrin: analysis of a family and review of the literature

British journal of dermatology (1951), 2006-01, Vol.154 (1), p.167-171

2006

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Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome

Journal of medical genetics, 2006-05, Vol.43 (5), p.e22-e22

2006

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Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK)

Nature genetics, 1994-02, Vol.6 (2), p.174-179

1994

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A new locus for autosomal recessive non-syndromic mental retardation maps to 1p21.1-p13.3

Clinical genetics, 2007-03, Vol.71 (3), p.212-219

2007

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A gene locus for branchio-otic syndrome maps to chromosome 14q21.3-q24.3

Journal of medical genetics, 2003-07, Vol.40 (7), p.515-519

2003

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Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis

Nature genetics, 2000-06, Vol.25 (2), p.213-216

2000

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A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter

Journal of medical genetics, 2005-05, Vol.42 (5), p.408-415

2005

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Effective treatment of severe thermodysregulation by oral retinoids in a patient with recessive congenital lamellar ichthyosis

Clinical and experimental dermatology, 2008-09, Vol.33 (5), p.578-581

2008

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Epidermal barrier abnormalities in exfoliative ichthyosis with a novel homozygous loss‐of‐function mutation in CSTA

British journal of dermatology (1951), 2015-06, Vol.172 (6), p.1628-1632

2015

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Characterization of the first supernumerary tricentric ring chromosome 1 mosaicism by conventional and molecular cytogenetic techniques

Cytogenetic and genome research, 2003-01, Vol.103 (1-2), p.28-33

2003

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SPINK1 mutations in chronic pancreatitis

Gastroenterology (New York, N.Y. 1943), 2001-03, Vol.120 (4), p.1060-1061

2001

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Acropectorovertebral dysgenesis (F syndrome) maps to chromosome 2q36

Journal of medical genetics, 2004-03, Vol.41 (3), p.213-218

2004

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A Gene Mutated in Nephronophthisis and Retinitis Pigmentosa Encodes a Novel Protein, Nephroretinin, Conserved in Evolution

American journal of human genetics, 2002-11, Vol.71 (5), p.1161-1167

2002

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Neurotological and Neuroanatomical Changes in the Connexin-26-Related HID/KID Syndrome

Audiology & neurotology, 2006-01, Vol.11 (4), p.242-248

2006

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Genotype/Phenotype Correlation in Autosomal Recessive Lamellar Ichthyosis

American journal of human genetics, 1998-05, Vol.62 (5), p.1052-1061

1998

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Identification, by Homozygosity Mapping, of a Novel Locus for Autosomal Recessive Congenital Ichthyosis on Chromosome 17p, and Evidence for Further Genetic Heterogeneity

American journal of human genetics, 2001-07, Vol.69 (1), p.216-222

2001

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Envoplakin, a Possible Candidate Gene for Focal NEPPK/Esophageal Cancer (TOC): The Integration of Genetic and Physical Maps of the TOC Region on 17q25

Genomics (San Diego, Calif.), 1999-07, Vol.59 (2), p.234-242

1999

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Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma

Human genetics, 1994-06, Vol.93 (6), p.649-654

1994

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CEDNIK syndrome results from loss-of-function mutations in SNAP29

Morphological alterations in two siblings with autosomal recessive congenital ichthyosis associated with CYP4F22 mutations

The importance of genetic susceptibility in Dupuytren's disease

Dyschromatosis universalis hereditaria: evidence for autosomal recessive inheritance and identification of a new locus on chromosome 12q21-q23

Haplotype analysis in western European patients with mal de Meleda: founder effect for the W15R mutation in the SLURP1 gene

Quality of life and clinical characteristics of self‐improving congenital ichthyosis within the disease spectrum of autosomal‐recessive congenital ichthyosis

HID and KID syndromes are associated with the same connexin 26 mutation

Towards characterization of palmoplantar keratoderma caused by gain‐of‐function mutation in loricrin: analysis of a family and review of the literature

Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome

Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK)

A new locus for autosomal recessive non-syndromic mental retardation maps to 1p21.1-p13.3

A gene locus for branchio-otic syndrome maps to chromosome 14q21.3-q24.3

Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis

A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter

Effective treatment of severe thermodysregulation by oral retinoids in a patient with recessive congenital lamellar ichthyosis

Epidermal barrier abnormalities in exfoliative ichthyosis with a novel homozygous loss‐of‐function mutation in CSTA

Characterization of the first supernumerary tricentric ring chromosome 1 mosaicism by conventional and molecular cytogenetic techniques

SPINK1 mutations in chronic pancreatitis

Acropectorovertebral dysgenesis (F syndrome) maps to chromosome 2q36

A Gene Mutated in Nephronophthisis and Retinitis Pigmentosa Encodes a Novel Protein, Nephroretinin, Conserved in Evolution

Neurotological and Neuroanatomical Changes in the Connexin-26-Related HID/KID Syndrome

Genotype/Phenotype Correlation in Autosomal Recessive Lamellar Ichthyosis

Identification, by Homozygosity Mapping, of a Novel Locus for Autosomal Recessive Congenital Ichthyosis on Chromosome 17p, and Evidence for Further Genetic Heterogeneity

Envoplakin, a Possible Candidate Gene for Focal NEPPK/Esophageal Cancer (TOC): The Integration of Genetic and Physical Maps of the TOC Region on 17q25

Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma

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