189 related articles for article (PubMed ID: 21834033)
1. Marfanoid hypermobility caused by an 862 kb deletion of Xq22.3 in a patient with Sotos syndrome.
Shimojima K; Okanishi T; Yamamoto T
Am J Med Genet A; 2011 Sep; 155A(9):2293-7. PubMed ID: 21834033
[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. 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]
4. Reversed clinical phenotype due to a microduplication of Sotos syndrome region detected by array CGH: microcephaly, developmental delay and delayed bone age.
Zhang H; Lu X; Beasley J; Mulvihill JJ; Liu R; Li S; Lee JY
Am J Med Genet A; 2011 Jun; 155A(6):1374-8. PubMed ID: 21567906
[TBL] [Abstract][Full Text] [Related]
5. 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]
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. De novo 5q35.5 duplication with clinical presentation of Sotos syndrome.
Kasnauskiene J; Cimbalistiene L; Ciuladaite Z; Preiksaitiene E; Kučinskienė ZA; Hettinger JA; Sismani C; Patsalis PC; Kučinskas V
Am J Med Genet A; 2011 Oct; 155A(10):2501-7. PubMed ID: 21998857
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Novel clinical findings in the first Egyptian case of Sotos syndrome caused by complete deletion of the NSD1 gene.
Abdalla E; Bartsch O; Galetzka D; Zechner U
Am J Med Genet A; 2017 Apr; 173(4):1090-1093. PubMed ID: 28328121
[No Abstract] [Full Text] [Related]
10. A case with neonatal hyperinsulinemic hypoglycemia: It is a characteristic complication of Sotos syndrome.
Nakamura Y; Takagi M; Yoshihashi H; Miura M; Narumi S; Hasegawa T; Miyake Y; Hasegawa Y
Am J Med Genet A; 2015 May; 167A(5):1171-4. PubMed ID: 25712828
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Hyperinsulinemic hypoglycemia of infancy in Sotos syndrome.
Matsuo T; Ihara K; Ochiai M; Kinjo T; Yoshikawa Y; Kojima-Ishii K; Noda M; Mizumoto H; Misaki M; Minagawa K; Tominaga K; Hara T
Am J Med Genet A; 2013 Jan; 161A(1):34-7. PubMed ID: 23239432
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndrome.
Kenny J; Lees MM; Drury S; Barnicoat A; Van't Hoff W; Palmer R; Morrogh D; Waters JJ; Lench NJ; Bockenhauer D
Pediatr Nephrol; 2011 Aug; 26(8):1331-4. PubMed ID: 21597970
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. 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]
18. Prenatal diagnosis and molecular cytogenetic characterization of a 1.07-Mb microdeletion at 5q35.2-q35.3 associated with NSD1 haploinsufficiency and Sotos syndrome.
Chen CP; Lin CJ; Chern SR; Liu YP; Kuo YL; Chen YN; Wu PS; Town DD; Chen LF; Yang CW; Wang W
Taiwan J Obstet Gynecol; 2014 Dec; 53(4):583-7. PubMed ID: 25510705
[TBL] [Abstract][Full Text] [Related]
19. [Clinical phenotypes and a genetic analysis of patients with Sotos syndrome].
Zhao M
Zhongguo Dang Dai Er Ke Za Zhi; 2018 Jun; 20(6):481-484. PubMed ID: 29972123
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
