185 related articles for article (PubMed ID: 16140999)
1. Partial NSD1 deletions cause 5% of Sotos syndrome and are readily identifiable by multiplex ligation dependent probe amplification.
Douglas J; Tatton-Brown K; Coleman K; Guerrero S; Berg J; Cole TR; Fitzpatrick D; Gillerot Y; Hughes HE; Pilz D; Raymond FL; Temple IK; Irrthum A; Schouten JP; Rahman N
J Med Genet; 2005 Sep; 42(9):e56. PubMed ID: 16140999
[TBL] [Abstract][Full Text] [Related]
2. Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.
Tatton-Brown K; Douglas J; Coleman K; Baujat G; Cole TR; Das S; Horn D; Hughes HE; Temple IK; Faravelli F; Waggoner D; Turkmen S; Cormier-Daire V; Irrthum A; Rahman N;
Am J Hum Genet; 2005 Aug; 77(2):193-204. PubMed ID: 15942875
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. 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]
6. 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]
7. The Association of Scoliosis and NSD1 Gene Deletion in Sotos Syndrome Patients.
Machida M; Katoh H; Machida M; Miyake A; Taira K; Ohashi H
Spine (Phila Pa 1976); 2021 Jul; 46(13):E726-E733. PubMed ID: 33332788
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. Sotos syndrome.
Tatton-Brown K; Rahman N
Eur J Hum Genet; 2007 Mar; 15(3):264-71. PubMed ID: 16969376
[TBL] [Abstract][Full Text] [Related]
11. Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome.
Saugier-Veber P; Bonnet C; Afenjar A; Drouin-Garraud V; Coubes C; Fehrenbach S; Holder-Espinasse M; Roume J; Malan V; Portnoi MF; Jeanne N; Baumann C; Héron D; David A; Gérard M; Bonneau D; Lacombe D; Cormier-Daire V; Billette de Villemeur T; Frébourg T; Bürglen L
Hum Mutat; 2007 Nov; 28(11):1098-107. PubMed ID: 17565729
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Clinical and genetic spectrum of 18 unrelated Korean patients with Sotos syndrome: frequent 5q35 microdeletion and identification of four novel NSD1 mutations.
Sohn YB; Lee CG; Ko JM; Yang JA; Yun JN; Jung EJ; Jin HS; Park SJ; Jeong SY
J Hum Genet; 2013 Feb; 58(2):73-7. PubMed ID: 23190751
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. Haploinsufficiency of NSD1 causes Sotos syndrome.
Kurotaki N; Imaizumi K; Harada N; Masuno M; Kondoh T; Nagai T; Ohashi H; Naritomi K; Tsukahara M; Makita Y; Sugimoto T; Sonoda T; Hasegawa T; Chinen Y; Tomita Ha HA; Kinoshita A; Mizuguchi T; Yoshiura Ki K; Ohta T; Kishino T; Fukushima Y; Niikawa N; Matsumoto N
Nat Genet; 2002 Apr; 30(4):365-6. PubMed ID: 11896389
[TBL] [Abstract][Full Text] [Related]
17. Leukocyte cDNA analysis of NSD1 derived from confirmed Sotos syndrome patients.
Duno M; Skovby F; Schwartz M
Ann Hum Genet; 2007 Nov; 71(Pt 6):713-8. PubMed ID: 17561922
[TBL] [Abstract][Full Text] [Related]
18. First identified Korean family with Sotos syndrome caused by a novel intragenic mutation in NSD1.
Park SH; Lee JE; Sohn YB; Ko JM
Ann Clin Lab Sci; 2014; 44(2):228-31. PubMed ID: 24795065
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]