224 related articles for article (PubMed ID: 16538226)
21. Germline and gonosomal mosaicism in the ATR-X syndrome.
Bachoo S; Gibbons RJ
Eur J Hum Genet; 1999 Dec; 7(8):933-6. PubMed ID: 10602370
[TBL] [Abstract][Full Text] [Related]
22. Phenotypic overlap in Melnick-Needles, serpentine fibula-polycystic kidney and Hajdu-Cheney syndromes: a clinical and molecular study in three patients.
Albano LMJ; Bertola DR; Barba MF; Valente M; Robertson SP; Kim CA
Clin Dysmorphol; 2007 Jan; 16(1):27-33. PubMed ID: 17159511
[TBL] [Abstract][Full Text] [Related]
23. Surgical Management of Craniomaxillofacial Features in the Otopalatodigital Spectrum Disorders.
Roland-Billecart T; Schlund M; Lauwers L; Nicot R; Ferri J
J Craniofac Surg; 2021 Nov-Dec 01; 32(8):2823-2826. PubMed ID: 34183625
[TBL] [Abstract][Full Text] [Related]
24. Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum.
Moutton S; Fergelot P; Naudion S; Cordier MP; Solé G; Guerineau E; Hubert C; Rooryck C; Vuillaume ML; Houcinat N; Deforges J; Bouron J; Devès S; Le Merrer M; David A; Geneviève D; Giuliano F; Journel H; Megarbane A; Faivre L; Chassaing N; Francannet C; Sarrazin E; Stattin EL; Vigneron J; Leclair D; Abadie C; Sarda P; Baumann C; Delrue MA; Arveiler B; Lacombe D; Goizet C; Coupry I
J Hum Genet; 2016 Aug; 61(8):693-9. PubMed ID: 27193221
[TBL] [Abstract][Full Text] [Related]
25. A novel 9 bp deletion in the filamin a gene causes an otopalatodigital-spectrum disorder with a variable, intermediate phenotype.
Stefanova M; Meinecke P; Gal A; Bolz H
Am J Med Genet A; 2005 Feb; 132A(4):386-90. PubMed ID: 15654694
[TBL] [Abstract][Full Text] [Related]
26. Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy.
Gennaro E; Santorelli FM; Bertini E; Buti D; Gaggero R; Gobbi G; Lini M; Granata T; Freri E; Parmeggiani A; Striano P; Veggiotti P; Cardinali S; Bricarelli FD; Minetti C; Zara F
Biochem Biophys Res Commun; 2006 Mar; 341(2):489-93. PubMed ID: 16430863
[TBL] [Abstract][Full Text] [Related]
27. Germline and mosaic mutations of FLN1 in men with periventricular heterotopia.
Guerrini R; Mei D; Sisodiya S; Sicca F; Harding B; Takahashi Y; Dorn T; Yoshida A; Campistol J; Krämer G; Moro F; Dobyns WB; Parrini E
Neurology; 2004 Jul; 63(1):51-6. PubMed ID: 15249610
[TBL] [Abstract][Full Text] [Related]
28. Structure of the human filamin A actin-binding domain.
Ruskamo S; Ylänne J
Acta Crystallogr D Biol Crystallogr; 2009 Nov; 65(Pt 11):1217-21. PubMed ID: 19923718
[TBL] [Abstract][Full Text] [Related]
29. Atypical skeletal changes in otopalatodigital syndrome type II: phenotypic overlap among otopalatodigital syndrome type II, boomerang dysplasia, atelosteogenesis type I and type III, and lethal male phenotype of Melnick-Needles syndrome.
Nishimura G; Horiuchi T; Kim OH; Sasamoto Y
Am J Med Genet; 1997 Dec; 73(2):132-8. PubMed ID: 9409862
[TBL] [Abstract][Full Text] [Related]
30. Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy.
Kyndt F; Gueffet JP; Probst V; Jaafar P; Legendre A; Le Bouffant F; Toquet C; Roy E; McGregor L; Lynch SA; Newbury-Ecob R; Tran V; Young I; Trochu JN; Le Marec H; Schott JJ
Circulation; 2007 Jan; 115(1):40-9. PubMed ID: 17190868
[TBL] [Abstract][Full Text] [Related]
31. An explanation for another familial case of Rett syndrome: maternal germline mosaicism.
Venâncio M; Santos M; Pereira SA; Maciel P; Saraiva JM
Eur J Hum Genet; 2007 Aug; 15(8):902-4. PubMed ID: 17440498
[TBL] [Abstract][Full Text] [Related]
32. 45,X/46,XX mosaicism in a mother and one of her discordant monozygotic twin daughters: report of one case.
Su PH; Chen JY; Chen SJ; Hung HM; Ting HC; Lin CY; Quek YW
Acta Paediatr Taiwan; 2006; 47(5):252-4. PubMed ID: 17352314
[TBL] [Abstract][Full Text] [Related]
33. Diffuse abnormal layering of small intestinal smooth muscle is present in patients with FLNA mutations and x-linked intestinal pseudo-obstruction.
Kapur RP; Robertson SP; Hannibal MC; Finn LS; Morgan T; van Kogelenberg M; Loren DJ
Am J Surg Pathol; 2010 Oct; 34(10):1528-43. PubMed ID: 20871226
[TBL] [Abstract][Full Text] [Related]
34. Mosaicism in human skin. Understanding the patterns and mechanisms.
Happle R
Arch Dermatol; 1993 Nov; 129(11):1460-70. PubMed ID: 8239703
[TBL] [Abstract][Full Text] [Related]
35. Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation.
Gómez-Garre P; Seijo M; Gutiérrez-Delicado E; Castro del Río M; de la Torre C; Gómez-Abad C; Morales-Corraliza J; Puig M; Serratosa JM
J Med Genet; 2006 Mar; 43(3):232-7. PubMed ID: 15994863
[TBL] [Abstract][Full Text] [Related]
36. Phenotypic variation in Melnick-Needles syndrome is not reflected in X inactivation patterns from blood or buccal smear.
Kristiansen M; Knudsen GP; Søyland A; Westvik J; Ørstavik KH
Am J Med Genet; 2002 Mar; 108(2):120-7. PubMed ID: 11857561
[TBL] [Abstract][Full Text] [Related]
37. Structure of filamin A immunoglobulin-like repeat 10 from Homo sapiens.
Page RC; Clark JG; Misra S
Acta Crystallogr Sect F Struct Biol Cryst Commun; 2011 Aug; 67(Pt 8):871-6. PubMed ID: 21821884
[TBL] [Abstract][Full Text] [Related]
38. Mosaic mutations of the FLN1 gene cause a mild phenotype in patients with periventricular heterotopia.
Parrini E; Mei D; Wright M; Dorn T; Guerrini R
Neurogenetics; 2004 Sep; 5(3):191-6. PubMed ID: 15459826
[TBL] [Abstract][Full Text] [Related]
39. Evidence of postzygotic mosaicism in a transmitted form of Conradi-Hunermann-Happle syndrome associated with a novel EBP mutation.
Morice-Picard F; Kostrzewa E; Wolf C; Benlian P; Taïeb A; Lacombe D
Arch Dermatol; 2011 Sep; 147(9):1073-6. PubMed ID: 21931045
[TBL] [Abstract][Full Text] [Related]
40. Periventricular nodular heterotopia with overlying polymicrogyria.
Wieck G; Leventer RJ; Squier WM; Jansen A; Andermann E; Dubeau F; Ramazzotti A; Guerrini R; Dobyns WB
Brain; 2005 Dec; 128(Pt 12):2811-21. PubMed ID: 16311271
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]