202 related articles for article (PubMed ID: 16247291)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
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. 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]
8. 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]
9. 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]
10. 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]
11. Identification of Novel NSD1 variations in four Pediatric cases with sotos Syndrome.
Ren Z; Yue L; Hu HY; Hou XL; Chen WQ; Tan Y; Dong Z; Zhang J
BMC Med Genomics; 2024 Apr; 17(1):116. PubMed ID: 38684994
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Hypoparathyroidism in a 3-year-old Korean boy with Sotos syndrome and a novel mutation in NSD1.
Wejaphikul K; Cho SY; Huh R; Kwun Y; Lee J; Ki CS; Jin DK
Ann Clin Lab Sci; 2015; 45(2):215-8. PubMed ID: 25887879
[TBL] [Abstract][Full Text] [Related]
14. Expanding the Clinical Spectrum of Sotos Syndrome in a Patient with the New "c.[5867T>A]+[=]"; "p.[Leu1956Gln]+[=]"
Mencarelli A; Prontera P; Mencarelli A; Rogaia D; Stangoni G; Cecconi M; Esposito S
Int J Mol Sci; 2018 Oct; 19(10):. PubMed ID: 30332768
[TBL] [Abstract][Full Text] [Related]
15. Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations.
Grand K; Gonzalez-Gandolfi C; Ackermann AM; Aljeaid D; Bedoukian E; Bird LM; De Leon DD; Diaz J; Hopkin RJ; Kadakia SP; Keena B; Klein KO; Krantz I; Leon E; Lord K; McDougall C; Medne L; Skraban CM; Stanley CA; Tarpinian J; Zackai E; Deardorff MA; Kalish JM
Am J Med Genet A; 2019 Apr; 179(4):542-551. PubMed ID: 30719864
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. 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]
19. Neurodevelopment and Genetic Evaluation of Sotos Syndrome Cases with a Novel Mutation: a Single-Center Experience.
Muhsin E; Basak G; Banu D; Alper G; Mustafa S
J Mol Neurosci; 2022 Jan; 72(1):149-157. PubMed ID: 34386909
[TBL] [Abstract][Full Text] [Related]
20. A novel nonsense variant in NSD1 gene in a female child with Sotos syndrome: A case report and literature review.
Liu X; Chen C; Wan L; Zhu G; Zhao Y; Hu L; Liang Y; Gao J; Wang J; Yang G
Brain Behav; 2023 Dec; 13(12):e3290. PubMed ID: 37908045
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
