151 related articles for article (PubMed ID: 19876911)
1. Premolar hypodontia is a common feature in Sotos syndrome with a mutation in the NSD1 gene.
Kotilainen J; Pohjola P; Pirinen S; Arte S; Nieminen P
Am J Med Genet A; 2009 Nov; 149A(11):2409-14. PubMed ID: 19876911
[TBL] [Abstract][Full Text] [Related]
2. 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]
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. Genotype-phenotype correlation in patients suspected of having Sotos syndrome.
de Boer L; Kant SG; Karperien M; van Beers L; Tjon J; Vink GR; van Tol D; Dauwerse H; le Cessie S; Beemer FA; van der Burgt I; Hamel BC; Hennekam RC; Kuhnle U; Mathijssen IB; Veenstra-Knol HE; Stumpel CT; Breuning MH; Wit JM
Horm Res; 2004; 62(4):197-207. PubMed ID: 15452385
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. 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]
8. 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]
9. 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]
10. 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]
11. 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]
12. 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]
13. 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]
14. 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]
15. 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]
16. 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]
17. 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]
18. 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]
19. 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]
20. Psychosocial, cognitive, and motor functioning in patients with suspected Sotos syndrome: a comparison between patients with and without NSD1 gene alterations.
de Boer L; Röder I; Wit JM
Dev Med Child Neurol; 2006 Jul; 48(7):582-8. PubMed ID: 16780628
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]