588 related articles for article (PubMed ID: 19596467)
21. Alu-related 5q35 microdeletions in Sotos syndrome.
Mochizuki J; Saitsu H; Mizuguchi T; Nishimura A; Visser R; Kurotaki N; Miyake N; Unno N; Matsumoto N
Clin Genet; 2008 Oct; 74(4):384-91. PubMed ID: 18505455
[TBL] [Abstract][Full Text] [Related]
22. Sotos syndrome common deletion is mediated by directly oriented subunits within inverted Sos-REP low-copy repeats.
Kurotaki N; Stankiewicz P; Wakui K; Niikawa N; Lupski JR
Hum Mol Genet; 2005 Feb; 14(4):535-42. PubMed ID: 15640245
[TBL] [Abstract][Full Text] [Related]
23. Clinical and molecular overlap in overgrowth syndromes.
Baujat G; Rio M; Rossignol S; Sanlaville D; Lyonnet S; Le Merrer M; Munnich A; Gicquel C; Colleaux L; Cormier-Daire V
Am J Med Genet C Semin Med Genet; 2005 Aug; 137C(1):4-11. PubMed ID: 16010674
[TBL] [Abstract][Full Text] [Related]
24. NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory.
Waggoner DJ; Raca G; Welch K; Dempsey M; Anderes E; Ostrovnaya I; Alkhateeb A; Kamimura J; Matsumoto N; Schaeffer GB; Martin CL; Das S
Genet Med; 2005 Oct; 7(8):524-33. PubMed ID: 16247291
[TBL] [Abstract][Full Text] [Related]
25. A novel mosaic NSD1 intragenic deletion in a patient with an atypical phenotype.
Castronovo C; Rusconi D; Crippa M; Giardino D; Gervasini C; Milani D; Cereda A; Larizza L; Selicorni A; Finelli P
Am J Med Genet A; 2013 Mar; 161A(3):611-8. PubMed ID: 23341071
[TBL] [Abstract][Full Text] [Related]
26. Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth.
Cecconi M; Forzano F; Milani D; Cavani S; Baldo C; Selicorni A; Pantaleoni C; Silengo M; Ferrero GB; Scarano G; Della Monica M; Fischetto R; Grammatico P; Majore S; Zampino G; Memo L; Cordisco EL; Neri G; Pierluigi M; Bricarelli FD; Grasso M; Faravelli F
Am J Med Genet A; 2005 Apr; 134(3):247-53. PubMed ID: 15742365
[TBL] [Abstract][Full Text] [Related]
27. Cryptic insertion producing two NUP98/NSD1 chimeric transcripts in adult refractory anemia with an excess of blasts.
La Starza R; Gorello P; Rosati R; Riezzo A; Veronese A; Ferrazzi E; Martelli MF; Negrini M; Mecucci C
Genes Chromosomes Cancer; 2004 Dec; 41(4):395-9. PubMed ID: 15382262
[TBL] [Abstract][Full Text] [Related]
28. Twelve new patients with 13q deletion syndrome: genotype-phenotype analyses in progress.
Quélin C; Bendavid C; Dubourg C; de la Rochebrochard C; Lucas J; Henry C; Jaillard S; Loget P; Loeuillet L; Lacombe D; Rival JM; David V; Odent S; Pasquier L
Eur J Med Genet; 2009; 52(1):41-6. PubMed ID: 19022413
[TBL] [Abstract][Full Text] [Related]
29. The first Japanese familial Sotos syndrome with a novel mutation of the NSD1 gene.
Tei S; Tsuneishi S; Matsuo M
Kobe J Med Sci; 2006; 52(1-2):1-8. PubMed ID: 16547423
[TBL] [Abstract][Full Text] [Related]
30. MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions.
Kirchhoff M; Bisgaard AM; Bryndorf T; Gerdes T
Eur J Med Genet; 2007; 50(1):33-42. PubMed ID: 17090394
[TBL] [Abstract][Full Text] [Related]
31. Sotos syndrome caused by a paracentric inversion disrupting the NSD1 gene.
Malan V; De Blois MC; Prieur M; Perrier-Waill MC; Huguet-Nedjar C; Gegas L; Turleau C; Vekemans M; Munnich A; Romana SP
Clin Genet; 2008 Jan; 73(1):89-91. PubMed ID: 18042263
[No Abstract] [Full Text] [Related]
32. [Sotos syndrome: a novel nonsense mutation in NSD1 gene, presenting with neonatal cutis laxa].
Cortès-Saladelafont E; Arias-Sáez K; Esteban-Oliva D; Coroleu-Lletget W; Martín-Jiménez P; Pintos-Morell G
An Pediatr (Barc); 2011 Aug; 75(2):129-33. PubMed ID: 21482210
[TBL] [Abstract][Full Text] [Related]
33. The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome?
Dikow N; Maas B; Gaspar H; Kreiss-Nachtsheim M; Engels H; Kuechler A; Garbes L; Netzer C; Neuhann TM; Koehler U; Casteels K; Devriendt K; Janssen JW; Jauch A; Hinderhofer K; Moog U
Am J Med Genet A; 2013 Sep; 161A(9):2158-66. PubMed ID: 23913520
[TBL] [Abstract][Full Text] [Related]
34. Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome.
Tatton-Brown K; Douglas J; Coleman K; Baujat G; Chandler K; Clarke A; Collins A; Davies S; Faravelli F; Firth H; Garrett C; Hughes H; Kerr B; Liebelt J; Reardon W; Schaefer GB; Splitt M; Temple IK; Waggoner D; Weaver DD; Wilson L; Cole T; Cormier-Daire V; Irrthum A; Rahman N;
J Med Genet; 2005 Apr; 42(4):307-13. PubMed ID: 15805156
[TBL] [Abstract][Full Text] [Related]
35. Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly.
Buxbaum JD; Cai G; Nygren G; Chaste P; Delorme R; Goldsmith J; Råstam M; Silverman JM; Hollander E; Gillberg C; Leboyer M; Betancur C
BMC Med Genet; 2007 Nov; 8():68. PubMed ID: 18001468
[TBL] [Abstract][Full Text] [Related]
36. Auxological data in patients clinically suspected of Sotos syndrome with NSD1 gene alterations.
de Boer L; le Cessie S; Wit JM
Acta Paediatr; 2005 Aug; 94(8):1142-4. PubMed ID: 16188863
[TBL] [Abstract][Full Text] [Related]
37. A case of Sotos syndrome with 5q35 microdeletion and novel clinical findings.
Kılıç E; Utine GE; Boduroğlu K
Turk J Pediatr; 2013; 55(2):207-9. PubMed ID: 24192683
[TBL] [Abstract][Full Text] [Related]
38. Clinical features of NSD1-positive Sotos syndrome.
Tatton-Brown K; Rahman N
Clin Dysmorphol; 2004 Oct; 13(4):199-204. PubMed ID: 15365454
[TBL] [Abstract][Full Text] [Related]
39. Diverse deletions in the growth hormone receptor gene cause growth hormone insensitivity syndrome.
Gastier JM; Berg MA; Vesterhus P; Reiter EO; Francke U
Hum Mutat; 2000 Oct; 16(4):323-33. PubMed ID: 11013443
[TBL] [Abstract][Full Text] [Related]
40. Alport syndrome. Molecular genetic aspects.
Hertz JM
Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]