137 related articles for article (PubMed ID: 11424136)
1. Gerodermia osteodysplastica and wrinkly skin syndrome: are they the same?
Al-Gazali LI; Sztriha L; Skaff F; Haas D
Am J Med Genet; 2001 Jul; 101(3):213-20. PubMed ID: 11424136
[TBL] [Abstract][Full Text] [Related]
2. Gerodermia osteodysplastica/wrinkly skin syndrome: report of three patients and brief review of the literature.
Nanda A; Alsaleh QA; Al-Sabah H; Marzouk EE; Salam AM; Nanda M; Anim JT
Pediatr Dermatol; 2008; 25(1):66-71. PubMed ID: 18304158
[TBL] [Abstract][Full Text] [Related]
3. Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman.
Rajab A; Kornak U; Budde BS; Hoffmann K; Jaeken J; Nürnberg P; Mundlos S
Am J Med Genet A; 2008 Apr; 146A(8):965-76. PubMed ID: 18348262
[TBL] [Abstract][Full Text] [Related]
4. Gerodermia osteodysplastica hereditaria: report of three affected brothers and literature review.
Lisker R; Hernández A; Martínez-Lavin M; Mutchinick O; Armas C; Reyes P; Robles-Gil J
Am J Med Genet; 1979; 3(4):389-95. PubMed ID: 474638
[TBL] [Abstract][Full Text] [Related]
5. Gerodermia osteodysplastica in a Bedouin sibship: further delineation of the syndrome.
al-Torki NA; al-Awadi SA; Cindro-Heberie L; Sabry MA
Clin Dysmorphol; 1997 Jan; 6(1):51-5. PubMed ID: 9018419
[TBL] [Abstract][Full Text] [Related]
6. Neurological involvement in a child with the wrinkly skin syndrome.
Azuri J; Mizrachi A; Weintraub S; Lerman-Sagie T
Am J Med Genet; 1999 Jan; 82(1):31-3. PubMed ID: 9916839
[TBL] [Abstract][Full Text] [Related]
7. Wrinkly skin syndrome: phenotype and additional manifestations.
Casamassima AC; Wesson SK; Conlon CJ; Weiss FH
Am J Med Genet; 1987 Aug; 27(4):885-93. PubMed ID: 3321993
[TBL] [Abstract][Full Text] [Related]
8. Del(2q)--cause of the wrinkly skin syndrome?
Kreuz FR; Wittwer BH
Clin Genet; 1993 Mar; 43(3):132-8. PubMed ID: 8500259
[TBL] [Abstract][Full Text] [Related]
9. Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers-Danlos syndrome patients.
Colombi M; Dordoni C; Venturini M; Ciaccio C; Morlino S; Chiarelli N; Zanca A; Calzavara-Pinton P; Zoppi N; Castori M; Ritelli M
Clin Genet; 2017 Dec; 92(6):624-631. PubMed ID: 28485813
[TBL] [Abstract][Full Text] [Related]
10. Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24.
Newman WG; Clayton-Smith J; Metcalfe K; Cole R; Tartaglia M; Brancati F; Morara S; Novelli A; Liu X; Siminovitch KA; Mundlos S; Tassabehji M; Black GC
Am J Med Genet A; 2008 Dec; 146A(23):3034-7. PubMed ID: 19006212
[TBL] [Abstract][Full Text] [Related]
11. Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities.
Kretz R; Bozorgmehr B; Kariminejad MH; Rohrbach M; Hausser I; Baumer A; Baumgartner M; Giunta C; Kariminejad A; Häberle J
J Inherit Metab Dis; 2011 Jun; 34(3):731-9. PubMed ID: 21487760
[TBL] [Abstract][Full Text] [Related]
12. Postnatal growth failure, microcephaly, mental retardation, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy.
Shotelersuk V; Desudchit T; Suwanwela N
Am J Med Genet A; 2003 Jan; 116A(2):164-9. PubMed ID: 12494436
[TBL] [Abstract][Full Text] [Related]
13. The wrinkly skin syndrome: a report of a case and review of the literature.
Hurvitz SA; Baumgarten A; Goodman RM
Clin Genet; 1990 Oct; 38(4):307-13. PubMed ID: 2268976
[TBL] [Abstract][Full Text] [Related]
14. Winchester syndrome: a case report.
Grover S; Grewal RS; Verma R; Mani NS; Mehta A; Sinha P
Int J Dermatol; 2009 Feb; 48(2):175-7. PubMed ID: 19200197
[No Abstract] [Full Text] [Related]
15. Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica.
Kariminejad A; Afroozan F; Bozorgmehr B; Ghanadan A; Akbaroghli S; Khorram Khorshid HR; Mojahedi F; Setoodeh A; Loh A; Tan YX; Escande-Beillard N; Malfait F; Reversade B; Gardeitchik T; Morava E
Int J Mol Sci; 2017 Mar; 18(3):. PubMed ID: 28294978
[TBL] [Abstract][Full Text] [Related]
16. Is geroderma osteodysplastica underdiagnosed?
Hunter AG
J Med Genet; 1988 Dec; 25(12):854-7. PubMed ID: 3236370
[TBL] [Abstract][Full Text] [Related]
17. Circumferential skin creases, cleft palate, typical face, intellectual disability and growth delay: "circumferential skin creases Kunze type".
Wouters L; Rodriguez Rodriguez CM; Dapena EP; Poorten VV; Devriendt K; Van Esch H
Eur J Med Genet; 2011; 54(3):236-40. PubMed ID: 21262397
[TBL] [Abstract][Full Text] [Related]
18. Developmental delay, dysmorphic features, neonatal spontaneous fractures, wrinkled skin, and hepatic failure: a new metabolic syndrome?
Mégarbané A; Samaras L; Chédid R; Chouery E; Chrétien D; Caillaud C; Abou-Ghoch J; Jalkh N
Am J Med Genet A; 2008 Dec; 146A(24):3198-201. PubMed ID: 19012336
[TBL] [Abstract][Full Text] [Related]
19. Mental retardation, congenital hip dislocation, wrinkled skin of the hands and feet (a new mental retardation, multiple anomalies syndrome).
Kozlowski K; Turner G
Radiol Diagn (Berl); 1983; 24(2):175-9. PubMed ID: 6878660
[No Abstract] [Full Text] [Related]
20. Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin.
Hennies HC; Kornak U; Zhang H; Egerer J; Zhang X; Seifert W; Kühnisch J; Budde B; Nätebus M; Brancati F; Wilcox WR; Müller D; Kaplan PB; Rajab A; Zampino G; Fodale V; Dallapiccola B; Newman W; Metcalfe K; Clayton-Smith J; Tassabehji M; Steinmann B; Barr FA; Nürnberg P; Wieacker P; Mundlos S
Nat Genet; 2008 Dec; 40(12):1410-2. PubMed ID: 18997784
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
