Found: 42
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Findings from the Peutz-Jeghers Syndrome Registry of Uruguay.
- Published in:
- PLoS ONE, 2013, v. 8, n. 11, p. 1, doi. 10.1371/journal.pone.0079639
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- Publication type:
- Article
Kuskokwim Syndrome, a Recessive Congenital Contracture Disorder, Extends the Phenotype of FKBP10 Mutations.
- Published in:
- Human Mutation, 2013, v. 34, n. 9, p. 1279, doi. 10.1002/humu.22362
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- Publication type:
- Article
Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: Summary of mutations (including 23 novel) and modeling of TGase-1.
- Published in:
- 2009
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- Publication type:
- Other
Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis.
- Published in:
- Nature Genetics, 2006, v. 38, n. 4, p. 441, doi. 10.1038/ng1767
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- Publication type:
- Article
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.
- Published in:
- Nature Genetics, 2006, v. 38, n. 3, p. 337, doi. 10.1038/ng1743
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- Publication type:
- Article
Genetic Heterogeneity in Erythrokeratodermia Variabilis: Novel Mutations in the Connexin Gene GJB4 (Cx30.3)and Genotype--Phenotype Correlations.
- Published in:
- Journal of Investigative Dermatology, 2003, v. 120, n. 4, p. 601, doi. 10.1046/j.1523-1747.2003.12080.x
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- Publication type:
- Article
Mapping of the associated phenotype of an absent granular layer in ichthyosis vulgaris to the epidermal differentiation complex on chromosome 1.
- Published in:
- Experimental Dermatology, 2002, v. 11, n. 6, p. 518, doi. 10.1034/j.1600-0625.2002.110604.x
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- Publication type:
- Article
Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly.
- Published in:
- 2002
- By:
- Publication type:
- Erratum
Refined Mapping of Naegeli–Franceschetti– Jadassohn Syndrome to a 6 cM Interval on Chromosome 17q11.2-q21 and Investigation of Candidate Genes.
- Published in:
- Journal of Investigative Dermatology, 2002, v. 119, n. 3, p. 692, doi. 10.1046/j.1523-1747.2002.01855.x
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- Publication type:
- Article
Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly.
- Published in:
- Human Genetics, 2002, v. 110, n. 4, p. 297, doi. 10.1007/s00439-002-0695-5
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- Publication type:
- Article
Auditory Manifestations of Keratitis-Ichthyosis-Deafness (KID) Syndrome.
- Published in:
- Laryngoscope, 2002, v. 112, n. 2, p. 272, doi. 10.1097/00005537-200202000-00014
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- Publication type:
- Article
The Spectrum of Pathogenic Mutations in SPINK5 in 19 Families with Netherton Syndrome: Implications for Mutation Detection and First Case of Prenatal Diagnosis.
- Published in:
- Journal of Investigative Dermatology, 2001, v. 117, n. 2, p. 179, doi. 10.1046/j.1523-1747.2001.01389.x
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- Publication type:
- Article
Mutation of a new gene causes a unique form of Hermansky?Pudlak syndrome in a genetic isolate of central Puerto Rico.
- Published in:
- Nature Genetics, 2001, v. 28, n. 4, p. 376, doi. 10.1038/ng576
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- Publication type:
- Article
A new xeroderma pigmentosum group C poly(AT) insertion/deletion polymorphism.
- Published in:
- Carcinogenesis, 2000, v. 21, n. 10, p. 1821, doi. 10.1093/carcin/21.10.1821
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- Publication type:
- Article
Splice-site mutation in TGM1 in congenital recessive ichthyosis in American families: molecular, genetic, genealogic, and clinical studies.
- Published in:
- Human Genetics, 2000, v. 106, n. 5, p. 492, doi. 10.1007/s004390000284
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- Publication type:
- Article
Netherton Syndrome is Not Linked to 18q12, a Region Homologous to the Murine Lanceolate Hair (lah) Locus.
- Published in:
- Journal of Investigative Dermatology, 2000, v. 114, n. 4, p. 741, doi. 10.1046/j.1523-1747.2000.00932-3.x
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- Publication type:
- Article
The spectrum of mutations in erythrokeratodermias – novel and de novo mutations in GJB3.
- Published in:
- Human Genetics, 2000, v. 106, n. 3, p. 321, doi. 10.1007/s004390051045
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- Publication type:
- Article
Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis.
- Published in:
- Nature Genetics, 1998, v. 20, n. 4, p. 366, doi. 10.1038/3840
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- Publication type:
- Article
A Deletion Mutation in COL17A1 in Five Austrian Families with Generalized Atrophic Benign Epidermolysis Bullosa Represents Propagation of an Ancestral Allele.
- Published in:
- Journal of Investigative Dermatology, 1998, v. 110, n. 2, p. 170, doi. 10.1046/j.1523-1747.1998.00101.x
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- Publication type:
- Article
Parental transmission and D18S37 allele sharing in bipolar affective disorder.
- Published in:
- Genetic Epidemiology, 1997, v. 14, n. 6, p. 665, doi. 10.1002/(SICI)1098-2272(1997)14:6<665::AID-GEPI19>3.0.CO;2-O
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- Publication type:
- Article
Linkage Studies in Erythrokeratodermias: Fine Mapping, Genetic Heterogeneity, and Analysis of Candidate Genes.
- Published in:
- Journal of Investigative Dermatology, 1997, v. 109, n. 5, p. 666, doi. 10.1111/1523-1747.ep12337713
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- Publication type:
- Article
Sjögren-Larsson Syndrome Is Caused by a Common Mutation in Northern European and Swedish Patients.
- Published in:
- Journal of Investigative Dermatology, 1997, v. 109, n. 1, p. 79, doi. 10.1111/1523-1747.ep12276622
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- Publication type:
- Article
Congenital Recessive Ichthyosis Unlinked to Loci for Epidermal Transglutaminases.
- Published in:
- Journal of Investigative Dermatology, 1996, v. 107, n. 6, p. 808, doi. 10.1111/1523-1747.ep12330566
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- Publication type:
- Article
Evidence for Genetic Heterogeneity in Monilethrix.
- Published in:
- Journal of Investigative Dermatology, 1996, v. 107, n. 6, p. 812, doi. 10.1111/1523-1747.ep12330568
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- Publication type:
- Article
Genetic Heterogeneity in Lamellar Ichthyosis.
- Published in:
- 1996
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- Publication type:
- Letter
Hailey-Hailey Disease Maps to a 5 cM Interval on Chromosome 3q21-q24.
- Published in:
- Journal of Investigative Dermatology, 1995, v. 105, n. 3, p. 357, doi. 10.1111/1523-1747.ep12320741
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- Publication type:
- Article
A Mutation in the V1 End Domain of Keratin 1 in Non-Epidermolytic Palmar-Plantar Keratoderma.
- Published in:
- Journal of Investigative Dermatology, 1994, v. 103, n. 6, p. 764, doi. 10.1111/1523-1747.ep12412771
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- Publication type:
- Article
Fine Mapping of the Darier's Disease Locus on Chromosome 12q.
- Published in:
- Journal of Investigative Dermatology, 1994, v. 103, n. 5, p. 665, doi. 10.1111/1523-1747.ep12398429
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- Publication type:
- Article
Fine Mapping of the Locus for Nevoid Basal Cell Carcinoma Syndrome on Chromosome 9q.
- Published in:
- Journal of Investigative Dermatology, 1994, v. 103, n. 2, p. 178, doi. 10.1111/1523-1747.ep12392682
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- Publication type:
- Article
Genetic Epidemiologic Studies in the Etiology of Skin Diseases.
- Published in:
- Journal of Investigative Dermatology, 1994, v. 102, n. 6, p. 46S, doi. 10.1111/1523-1747.ep12388573
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- Publication type:
- Article
The Genetics of Ichthyosis: A Primer for Epidemiologists.
- Published in:
- Journal of Investigative Dermatology, 1994, v. 102, n. 6, p. 49S, doi. 10.1111/1523-1747.ep12388591
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- Publication type:
- Article
Epidermolytic Hyperkeratosis: Applied Molecular Genetics.
- Published in:
- Journal of Investigative Dermatology, 1994, v. 102, n. 3, p. 390, doi. 10.1111/1523-1747.ep12371801
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- Publication type:
- Article
Mutations in the H1 and 1A Domains in the Keratin 1 Gene in Epidermolytic Hyperkeratosis.
- Published in:
- Journal of Investigative Dermatology, 1994, v. 102, n. 1, p. 17, doi. 10.1111/1523-1747.ep12371725
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- Publication type:
- Article
Availability of schizophrenic patients and their families for genetic linkage studies: Findings from the Maryland epidemiology sample.
- Published in:
- Genetic Epidemiology, 1989, v. 6, n. 6, p. 671, doi. 10.1002/gepi.1370060604
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- Publication type:
- Article
Chromosome 9p and Hereditary Cutaneous Malignant Melanoma.
- Published in:
- JNCI: Journal of the National Cancer Institute, 1989, v. 81, n. 1, p. 70
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- Publication type:
- Article
On the detection of excess disease risk in family data.
- Published in:
- Genetic Epidemiology, 1987, v. 4, n. 6, p. 447, doi. 10.1002/gepi.1370040606
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- Publication type:
- Article
Evidence against Ha-ras-1 involvement in sporadic and familial melanoma.
- Published in:
- Nature, 1987, v. 325, n. 6099, p. 73, doi. 10.1038/325073a0
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- Publication type:
- Article
Etiological heterogeneity in Hodgkin's disease: HLA linked and unlinked determinants of susceptibility independent of histological concordance.
- Published in:
- Genetic Epidemiology, 1986, v. 3, n. 6, p. 407, doi. 10.1002/gepi.1370030605
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- Publication type:
- Article
Linkage relationships among four 11p markers in the Utah dataset.
- Published in:
- Genetic Epidemiology, 1986, v. 3, n. S1, p. 117, doi. 10.1002/gepi.1370030718
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- Publication type:
- Article
Effect of age-at-onset specifications on Huntington disease - G8 linkage analysis.
- Published in:
- Genetic Epidemiology, 1986, v. 3, n. S1, p. 229, doi. 10.1002/gepi.1370030735
- By:
- Publication type:
- Article
Hereditary malignant melanoma is not linked to the hla complex on chromosome 6.
- Published in:
- International Journal of Cancer, 1985, v. 36, n. 4, p. 439, doi. 10.1002/ijc.2910360405
- By:
- Publication type:
- Article
Aggregation of colon cancer in family data.
- Published in:
- Genetic Epidemiology, 1984, v. 1, n. 1, p. 53, doi. 10.1002/gepi.1370010108
- By:
- Publication type:
- Article