Found: 29
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Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred.
- Published in:
- Journal of Human Genetics, 2006, v. 51, n. 5, p. 487, doi. 10.1007/s10038-006-0377-6
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- Publication type:
- Article
Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis.
- Published in:
- Nature Genetics, 2004, v. 36, n. 6, p. 579, doi. 10.1038/ng1358
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- Publication type:
- Article
Postzygotic HRAS Mutation Causing Both Keratinocytic Epidermal Nevus and Thymoma and Associated With Bone Dysplasia and Hypophosphatemia Due to Elevated FGF23.
- Published in:
- 2014
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- Publication type:
- Journal Article
Molecular analysis of a series of israeli families with comèl-netherton syndrome.
- Published in:
- 2014
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- Publication type:
- Journal Article
Molecular Analysis of a Series of Israeli Families with Comèl-Netherton Syndrome.
- Published in:
- Dermatology (10188665), 2014, v. 228, n. 2, p. 183, doi. 10.1159/000357560
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- Publication type:
- Article
The sound of silence: autosomal recessive congenital ichthyosis caused by a synonymous mutation in ABCA12.
- Published in:
- Experimental Dermatology, 2013, v. 22, n. 4, p. 251, doi. 10.1111/exd.12110
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- Publication type:
- Article
Newly discovered mutations in the GALNT3 gene causing autosomal recessive hyperostosis-hyperphosphatemia syndrome.
- Published in:
- Acta Orthopaedica, 2009, v. 80, n. 1, p. 131, doi. 10.1080/17453670902807482
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- Publication type:
- Article
A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families.
- Published in:
- Archives of Dermatological Research, 2009, v. 301, n. 5, p. 391, doi. 10.1007/s00403-008-0903-9
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- Publication type:
- Article
Rapid detection of homozygous mutations in congenital recessive ichthyosis.
- Published in:
- Archives of Dermatological Research, 2008, v. 300, n. 2, p. 81, doi. 10.1007/s00403-007-0815-0
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- Publication type:
- Article
Identification of mutations in the human hairless gene in two new families with congenital atrichia.
- Published in:
- Archives of Dermatological Research, 2007, v. 299, n. 3, p. 157, doi. 10.1007/s00403-007-0747-8
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- Publication type:
- Article
A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification.
- Published in:
- Human Genetics, 2005, v. 118, n. 2, p. 261, doi. 10.1007/s00439-005-0026-8
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- Publication type:
- Article
A case of Netherton syndrome with intestinal atresia, a novel SPINK5 mutation, and a fatal course.
- Published in:
- International Journal of Dermatology, 2017, v. 56, n. 10, p. 1055, doi. 10.1111/ijd.13730
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- Publication type:
- Article
A novel nonsense CDH3 mutation in hypotrichosis with juvenile macular dystrophy.
- Published in:
- International Journal of Dermatology, 2012, v. 51, n. 3, p. 325, doi. 10.1111/j.1365-4632.2011.04973.x
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- Publication type:
- Article
The histopathology and phenotypic variability in H syndrome.
- Published in:
- 2018
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- Publication type:
- Case Study
ADULT Syndrome Caused by a Mutation Previously Associated with EEC Syndrome.
- Published in:
- Pediatric Dermatology, 2010, v. 27, n. 6, p. 643, doi. 10.1111/j.1525-1470.2010.01131.x
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- Publication type:
- Article
Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3.
- Published in:
- Journal of Investigative Dermatology, 2014, v. 134, n. 6, p. 1752, doi. 10.1038/jid.2014.37
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- Publication type:
- Article
Population-Specific Association between a Polymorphic Variant in ST18, Encoding a Pro-Apoptotic Molecule, and Pemphigus Vulgaris.
- Published in:
- Journal of Investigative Dermatology, 2012, v. 132, n. 7, p. 1798, doi. 10.1038/jid.2012.46
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- Publication type:
- Article
Insulin-Like Growth Factor-Binding Protein 7 Regulates Keratinocyte Proliferation, Differentiation and Apoptosis.
- Published in:
- Journal of Investigative Dermatology, 2010, v. 130, n. 2, p. 378, doi. 10.1038/jid.2009.265
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- Publication type:
- Article
Normophosphatemic Familial Tumoral Calcinosis Is Caused by Deleterious Mutations in SAMD9, Encoding a TNF-α Responsive Protein.
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- Journal of Investigative Dermatology, 2008, v. 128, n. 6, p. 1423, doi. 10.1038/sj.jid.5701203
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- Publication type:
- Article
Epidermolysis Bullosa Simplex with Mottled Pigmentation Resulting from a Recurrent Mutation in KRT14.
- Published in:
- 2006
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- Publication type:
- Letter
Molecular Epidemiology of Hereditary Epidermolysis Bullosa in a Middle Eastern Population.
- Published in:
- Journal of Investigative Dermatology, 2006, v. 126, n. 4, p. 777, doi. 10.1038/sj.jid.5700163
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- Publication type:
- Article
Identification of a Novel Locus Associated with Congenital Recessive Ichthyosis on 12p11.2–q13.
- Published in:
- Journal of Investigative Dermatology, 2005, v. 125, n. 3, p. 456, doi. 10.1111/j.0022-202X.2005.23777.x
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- Publication type:
- Article
A Novel Recessive Missense Mutation inKRT14Reveals Striking Phenotypic Heterogeneity in Epidermolysis Bullosa Simplex.
- Published in:
- 2005
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- Publication type:
- Letter
Homozygous Splice Site Mutations in PKP1 Result in Loss of Epidermal Plakophilin 1 Expression and Underlie Ectodermal Dysplasia/Skin Fragility Syndrome in Two Consanguineous Families.
- Published in:
- Journal of Investigative Dermatology, 2004, v. 122, n. 3, p. 647, doi. 10.1111/j.0022-202X.2004.22335.x
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- Publication type:
- Article
MUTATION REPORT Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy.
- Published in:
- 2003
- By:
- Publication type:
- Letter
Epidermolytic yperkeratosis and Epidermolysis Bullosa Simplex Caused by Frameshift Mutations Altering the V2 Tail Domains of Keratin 1 and Keratin 5.
- Published in:
- Journal of Investigative Dermatology, 2003, v. 120, n. 4, p. 623, doi. 10.1046/j.1523-1747.2003.12084.x
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- Publication type:
- Article
A Missense Mutation in CDH3, Encoding P-Cadherin, Causes Hypotrichosis with Juvenile Macular Dystrophy.
- Published in:
- Journal of Investigative Dermatology, 2002, v. 119, n. 5, p. 1210, doi. 10.1046/j.1523-1747.2002.19528.x
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- Publication type:
- Article
A Novel Missense Mutation in CIAS1 Encoding the Pyrin-Like Protein, Cryopyrin, Causes Familial Cold Autoinflammatory Syndrome in a Family of Ethiopian Origin.
- Published in:
- International Archives of Allergy & Immunology, 2007, v. 143, n. 3, p. 190, doi. 10.1159/000099311
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- Publication type:
- Article
Human Amnion Membrane as a Substrate for the Detection of Autoantibodies in Pemphigus Vulgaris and Bullous Pemphigoid.
- Published in:
- Israel Medical Association Journal, 2014, v. 16, n. 4, p. 217
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- Publication type:
- Article