Get started
Keyword

genodermatosis

Description: A genodermatosis is an inherited skin disorder caused by genetic variation, studied in dermatology and medical genetics.
Wikidata ID: wiki/Q666075
OpenAlex ID: keywords/genodermatoses
Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome
2002 · Michael L. Nickerson, Michelle B. Warren, et al. · Cancer Cell · 942
PDF
Online Mendelian Inheritance in Man 'OMIM'.
2007 · S Amladi · PubMed · 866
PDF
Genomic rearrangement in NEMO impairs NF-κB activation and is a cause of incontinentia pigmenti
2000 · Asmae Smahi, P. Vabres, et al. · Nature · 750
Renal Tumors in the Birt-Hogg-Dubé Syndrome
2002 · Christian P. Pavlovich, McClellan M. Walther, et al. · The American Journal of Surgical Pathology · 606
The Cowden syndrome: a clinical and genetic study in 21 patients
1986 · Th. M. Starink, J. P. W. van der Veen, et al. · Clinical Genetics · 550
Darier-White disease: A review of the clinical features in 163 patients
1992 · Susan M. Burge, John D. Wilkinson · Journal of the American Academy of Dermatology · 492
Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis
2002 · Nicolas Ramoz, Luis-Alfredo Rueda, et al. · Nature Genetics · 453
Incontinentia pigmenti. A world statistical analysis
1976 · R. G. Carney · Archives of Dermatology · 404
Female Mice Heterozygous for IKKγ/NEMO Deficiencies Develop a Dermatopathy Similar to the Human X-Linked Disorder Incontinentia Pigmenti
2000 · Constantin Makris, Virginia L Godfrey, et al. · Molecular Cell · 395
PDF
Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity
2004 · Pascal Descargues, Céline Deraison, et al. · Nature Genetics · 383
Nevoid basal cell carcinoma (Gorlin) syndrome
2004 · Robert J. Gorlin · Genetics in Medicine · 369
Mutations in the 180–kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa
1995 · John A. McGrath, Biljana Gatalica, et al. · Nature Genetics · 369
Birt-Hogg-Dubé Syndrome, a Genodermatosis Associated with Spontaneous Pneumothorax and Kidney Neoplasia, Maps to Chromosome 17p11.2
2001 · Laura S. Schmidt, Michelle B. Warren, et al. · The American Journal of Human Genetics · 366
Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis
1998 · Gabriele Richard, Lisa E. Smith, et al. · Nature Genetics · 344
Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients
2001 · Lisa L. Wang, Moise L. Levy, et al. · American Journal of Medical Genetics · 322
Association of sebaceous gland tumors and internal malignancy: The muir-torre syndrome
1991 · Philip R. Cohen, Steven R. Kohn, et al. · The American Journal of Medicine · 308
Genetics of epidermodysplasia verruciformis: Insights into host defense against papillomaviruses
2006 · Gérard Orth · Seminars in Immunology · 306
The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes
2002 · A. Smahi · Human Molecular Genetics · 300
Rothmund-Thomson syndrome
2010 · Lidia Larizza, Gaia Roversi, et al. · Orphanet Journal of Rare Diseases · 293
PDF
Mutation analysis and molecular genetics of epidermolysis bullosa
1999 · Leena Pulkkinen, Jouni Uitto · Matrix Biology · 291
Loss-of-Function Mutations in the Keratin 5 Gene Lead to Dowling-Degos Disease
2006 · Regina C. Betz, Laura Planko, et al. · The American Journal of Human Genetics · 270
Mutations of the RNA-Specific Adenosine Deaminase Gene (DSRAD) Are Involved in Dyschromatosis Symmetrica Hereditaria
2003 · Yoshinori Miyamura, Tamio Suzuki, et al. · The American Journal of Human Genetics · 260
PDF
Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome
2003 · F. Jobard · Human Molecular Genetics · 259
PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans
2012 · Anaïs Grall, Eric Guaguère, et al. · Nature Genetics · 256
The Retinoids
1987 · C.E. Orfanos, R. Ehlert, et al. · Drugs · 250
Works count: 6,662
Citation count: 61,510
Year
Topic
Type