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22. Adams-Oliver syndrome and isolated aplasia cutis congenita in two siblings. Rajabian MH, Aghaei S. Dermatol Online J; 2006 Oct 31; 12(6):17. PubMed ID: 17083897 [Abstract] [Full Text] [Related]
23. The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects. Snape KM, Ruddy D, Zenker M, Wuyts W, Whiteford M, Johnson D, Lam W, Trembath RC. Am J Med Genet A; 2009 Aug 31; 149A(8):1860-81. PubMed ID: 19610107 [Abstract] [Full Text] [Related]
24. [The Adams-Oliver syndrome in Spain: the epidemiological aspects]. Martínez-Frías ML, Arroyo Carrera I, Muñoz-Delgado NJ, Nieto Conde C, Rodríguez-Pinilla E, Urioste Azcorra M, Omeñaca Teres F, García Alix A. An Esp Pediatr; 1996 Jul 31; 45(1):57-61. PubMed ID: 8849132 [Abstract] [Full Text] [Related]
25. Adams-Oliver syndrome in a newborn infant. Zakanj Z, Bedek D, Kotrulja L, Ozanic Bulic S. Int J Dermatol; 2016 Feb 31; 55(2):215-7. PubMed ID: 24697559 [No Abstract] [Full Text] [Related]
26. Expanding the phenotype in Adams-Oliver syndrome correlating with the genotype. Dudoignon B, Huber C, Michot C, Di Rocco F, Girard M, Lyonnet S, Rio M, Rabia SH, Daire VC, Baujat G. Am J Med Genet A; 2020 Jan 31; 182(1):29-37. PubMed ID: 31654484 [Abstract] [Full Text] [Related]
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28. Adams-Oliver syndrome. Iftikhar N, Ahmad Ghumman FI, Janjua SA, Ejaz A, Butt UA. J Coll Physicians Surg Pak; 2014 May 31; 24 Suppl 2():S76-7. PubMed ID: 24906278 [Abstract] [Full Text] [Related]
29. Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort. Meester JAN, Sukalo M, Schröder KC, Schanze D, Baynam G, Borck G, Bramswig NC, Duman D, Gilbert-Dussardier B, Holder-Espinasse M, Itin P, Johnson DS, Joss S, Koillinen H, McKenzie F, Morton J, Nelle H, Reardon W, Roll C, Salih MA, Savarirayan R, Scurr I, Splitt M, Thompson E, Titheradge H, Travers CP, Van Maldergem L, Whiteford M, Wieczorek D, Vandeweyer G, Trembath R, Van Laer L, Loeys BL, Zenker M, Southgate L, Wuyts W. Hum Mutat; 2018 Sep 31; 39(9):1246-1261. PubMed ID: 29924900 [Abstract] [Full Text] [Related]
30. Diffuse angiopathy in Adams-Oliver syndrome associated with truncating DOCK6 mutations. Lehman A, Stittrich AB, Glusman G, Zong Z, Li H, Eydoux P, Senger C, Lyons C, Roach JC, Patel M. Am J Med Genet A; 2014 Oct 31; 164A(10):2656-62. PubMed ID: 25091416 [Abstract] [Full Text] [Related]
31. Aplasia cutis congenita. Report on 5 family cases involving the scalp. Casanova D, Amar E, Bardot J, Magalon G. Eur J Pediatr Surg; 2001 Aug 31; 11(4):280-4. PubMed ID: 11558023 [Abstract] [Full Text] [Related]
32. Adams-Oliver syndrome, a family with dominant inheritance and a severe phenotype. Vandersteen AM, Dixon JW. Clin Dysmorphol; 2011 Oct 31; 20(4):210-213. PubMed ID: 21785343 [No Abstract] [Full Text] [Related]
33. Mutations in NOTCH1 cause Adams-Oliver syndrome. Stittrich AB, Lehman A, Bodian DL, Ashworth J, Zong Z, Li H, Lam P, Khromykh A, Iyer RK, Vockley JG, Baveja R, Silva ES, Dixon J, Leon EL, Solomon BD, Glusman G, Niederhuber JE, Roach JC, Patel MS. Am J Hum Genet; 2014 Sep 04; 95(3):275-84. PubMed ID: 25132448 [Abstract] [Full Text] [Related]
34. Aplasia cutis congenita, terminal limb defects and falciform retinal folds: confirmation of a distinct syndrome of vascular disruption. Prothero J, Nicholl R, Wilson J, Wakeling EL. Clin Dysmorphol; 2007 Jan 04; 16(1):39-41. PubMed ID: 17159513 [Abstract] [Full Text] [Related]
35. [Adams-Oliver syndrome and cutis marmorata telangiectatica congenita]. Kojmane W, Hmami F, Atmani S. Ann Dermatol Venereol; 2019 Mar 04; 146(3):223-225. PubMed ID: 30638685 [Abstract] [Full Text] [Related]
36. Adams-Oliver syndrome associated with bilateral anterior polar cataracts and optic disk drusen. Lascaratos G, Lam WW, Newman WD, MacRae M. J AAPOS; 2011 Jun 04; 15(3):299-301. PubMed ID: 21641251 [Abstract] [Full Text] [Related]
37. Epileptic Encephalopathy in Adams-Oliver Syndrome Associated to a New DOCK6 Mutation: A Peculiar Behavioral Phenotype. Pisciotta L, Capra V, Accogli A, Giacomini T, Prato G, Tavares P, Pinto-Basto J, Morana G, Mancardi MM. Neuropediatrics; 2018 Jun 04; 49(3):217-221. PubMed ID: 29631299 [Abstract] [Full Text] [Related]
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39. RBPJ mutations identified in two families affected by Adams-Oliver syndrome. Hassed SJ, Wiley GB, Wang S, Lee JY, Li S, Xu W, Zhao ZJ, Mulvihill JJ, Robertson J, Warner J, Gaffney PM. Am J Hum Genet; 2012 Aug 10; 91(2):391-5. PubMed ID: 22883147 [Abstract] [Full Text] [Related]
40. Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome. Shaheen R, Faqeih E, Sunker A, Morsy H, Al-Sheddi T, Shamseldin HE, Adly N, Hashem M, Alkuraya FS. Am J Hum Genet; 2011 Aug 12; 89(2):328-33. PubMed ID: 21820096 [Abstract] [Full Text] [Related] Page: [Previous] [Next] [New Search]