141 related articles for article (PubMed ID: 20101679)
1. Acute lymphoblastic leukemia in Weaver syndrome.
Basel-Vanagaite L
Am J Med Genet A; 2010 Feb; 152A(2):383-6. PubMed ID: 20101679
[TBL] [Abstract][Full Text] [Related]
2. NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes.
Douglas J; Hanks S; Temple IK; Davies S; Murray A; Upadhyaya M; Tomkins S; Hughes HE; Cole TR; Rahman N
Am J Hum Genet; 2003 Jan; 72(1):132-43. PubMed ID: 12464997
[TBL] [Abstract][Full Text] [Related]
3. Spectrum of NSD1 mutations in Sotos and Weaver syndromes.
Rio M; Clech L; Amiel J; Faivre L; Lyonnet S; Le Merrer M; Odent S; Lacombe D; Edery P; Brauner R; Raoul O; Gosset P; Prieur M; Vekemans M; Munnich A; Colleaux L; Cormier-Daire V
J Med Genet; 2003 Jun; 40(6):436-40. PubMed ID: 12807965
[TBL] [Abstract][Full Text] [Related]
4. Spectrum of NSD1 gene mutations in southern Chinese patients with Sotos syndrome.
Tong TM; Hau EW; Lo IF; Chan DH; Lam ST
Chin Med J (Engl); 2005 Sep; 118(18):1499-506. PubMed ID: 16232326
[TBL] [Abstract][Full Text] [Related]
5. Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes.
Türkmen S; Gillessen-Kaesbach G; Meinecke P; Albrecht B; Neumann LM; Hesse V; Palanduz S; Balg S; Majewski F; Fuchs S; Zschieschang P; Greiwe M; Mennicke K; Kreuz FR; Dehmel HJ; Rodeck B; Kunze J; Tinschert S; Mundlos S; Horn D
Eur J Hum Genet; 2003 Nov; 11(11):858-65. PubMed ID: 14571271
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.
Tatton-Brown K; Murray A; Hanks S; Douglas J; Armstrong R; Banka S; Bird LM; Clericuzio CL; Cormier-Daire V; Cushing T; Flinter F; Jacquemont ML; Joss S; Kinning E; Lynch SA; Magee A; McConnell V; Medeira A; Ozono K; Patton M; Rankin J; Shears D; Simon M; Splitt M; Strenger V; Stuurman K; Taylor C; Titheradge H; Van Maldergem L; Temple IK; Cole T; Seal S; ; Rahman N
Am J Med Genet A; 2013 Dec; 161A(12):2972-80. PubMed ID: 24214728
[TBL] [Abstract][Full Text] [Related]
9. MLPA analysis in 30 Sotos syndrome patients revealed one total NSD1 deletion and two partial deletions not previously reported.
Fagali C; Kok F; Nicola P; Kim C; Bertola D; Albano L; Koiffmann CP
Eur J Med Genet; 2009; 52(5):333-6. PubMed ID: 19596467
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. NSD1 mutations in Sotos syndrome.
Faravelli F
Am J Med Genet C Semin Med Genet; 2005 Aug; 137C(1):24-31. PubMed ID: 16010675
[TBL] [Abstract][Full Text] [Related]
12. Nevo syndrome with an NSD1 deletion: a variant of Sotos syndrome?
Kanemoto N; Kanemoto K; Nishimura G; Kamoda T; Visser R; Shimokawa O; Matsumoto N
Am J Med Genet A; 2006 Jan; 140(1):70-3. PubMed ID: 16329110
[TBL] [Abstract][Full Text] [Related]
13. Two cases of Sotos syndrome with novel mutations of the NSD1 gene.
Fryssira H; Drossatou P; Sklavou R; Barambouti F; Manolaki N
Genet Couns; 2010; 21(1):53-9. PubMed ID: 20420030
[TBL] [Abstract][Full Text] [Related]
14. Adults with Sotos syndrome: review of 21 adults with molecularly confirmed NSD1 alterations, including a detailed case report of the oldest person.
Fickie MR; Lapunzina P; Gentile JK; Tolkoff-Rubin N; Kroshinsky D; Galan E; Gean E; Martorell L; Romanelli V; Toral JF; Lin AE
Am J Med Genet A; 2011 Sep; 155A(9):2105-11. PubMed ID: 21834047
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Familial gigantism caused by an NSD1 mutation.
van Haelst MM; Hoogeboom JJ; Baujat G; Brüggenwirth HT; Van de Laar I; Coleman K; Rahman N; Niermeijer MF; Drop SL; Scambler PJ
Am J Med Genet A; 2005 Nov; 139(1):40-4. PubMed ID: 16222665
[TBL] [Abstract][Full Text] [Related]
17. Craniofacial and oral features of Sotos syndrome: differences in patients with submicroscopic deletion and mutation of NSD1 gene.
Hirai N; Matsune K; Ohashi H
Am J Med Genet A; 2011 Dec; 155A(12):2933-9. PubMed ID: 22012791
[TBL] [Abstract][Full Text] [Related]
18. Mutations in SETD2 cause a novel overgrowth condition.
Luscan A; Laurendeau I; Malan V; Francannet C; Odent S; Giuliano F; Lacombe D; Touraine R; Vidaud M; Pasmant E; Cormier-Daire V
J Med Genet; 2014 Aug; 51(8):512-7. PubMed ID: 24852293
[TBL] [Abstract][Full Text] [Related]
19. EZH2 mutation in an adolescent with Weaver syndrome developing acute myeloid leukemia and secondary hemophagocytic lymphohistiocytosis.
Usemann J; Ernst T; Schäfer V; Lehmberg K; Seeger K
Am J Med Genet A; 2016 May; 170A(5):1274-7. PubMed ID: 26762561
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
