153 related articles for article (PubMed ID: 16222665)
21. 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]
22. 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]
23. 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]
24. dHPLC screening of the NSD1 gene identifies nine novel mutations--summary of the first 100 Sotos syndrome mutations.
Melchior L; Schwartz M; Duno M
Ann Hum Genet; 2005 Mar; 69(Pt 2):222-6. PubMed ID: 15720303
[TBL] [Abstract][Full Text] [Related]
25. 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]
26. Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion.
Kurotaki N; Harada N; Shimokawa O; Miyake N; Kawame H; Uetake K; Makita Y; Kondoh T; Ogata T; Hasegawa T; Nagai T; Ozaki T; Touyama M; Shenhav R; Ohashi H; Medne L; Shiihara T; Ohtsu S; Kato Z; Okamoto N; Nishimoto J; Lev D; Miyoshi Y; Ishikiriyama S; Sonoda T; Sakazume S; Fukushima Y; Kurosawa K; Cheng JF; Yoshiura K; Ohta T; Kishino T; Niikawa N; Matsumoto N
Hum Mutat; 2003 Nov; 22(5):378-87. PubMed ID: 14517949
[TBL] [Abstract][Full Text] [Related]
27. Sotos syndrome with marked overgrowth in three Japanese patients with heterozygous likely pathogenic NSD1 variants: case reports with review of literature.
Masunaga Y; Ono H; Fujisawa Y; Taniguchi K; Saitsu H; Ogata T
Endocr J; 2024 Jan; 71(1):75-81. PubMed ID: 37989294
[TBL] [Abstract][Full Text] [Related]
28. Evaluation of NSD2 and NSD3 in overgrowth syndromes.
Douglas J; Coleman K; Tatton-Brown K; Hughes HE; Temple IK; Cole TR; Rahman N;
Eur J Hum Genet; 2005 Feb; 13(2):150-3. PubMed ID: 15483650
[TBL] [Abstract][Full Text] [Related]
29. 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]
30. 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]
31. 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]
32. Identification of eight novel NSD1 mutations in Sotos syndrome.
Kamimura J; Endo Y; Kurotaki N; Kinoshita A; Miyake N; Shimokawa O; Harada N; Visser R; Ohashi H; Miyakawa K; Gerritsen J; Innes AM; Lagace L; Frydman M; Okamoto N; Puttinger R; Raskin S; Resic B; Culic V; Yoshiura K; Ohta T; Kishino T; Ishikawa M; Niikawa N; Matsumoto N
J Med Genet; 2003 Nov; 40(11):e126. PubMed ID: 14627693
[No Abstract] [Full Text] [Related]
33. Three novel mutations in greek sotos patients with rare clinical manifestations.
Leventopoulos G; Kitsiou-Tzeli S; Psoni S; Mavrou A; Kanavakis E; Willems P; Fryssira H
Horm Res; 2009 Jan; 71(1):45-51. PubMed ID: 19039236
[TBL] [Abstract][Full Text] [Related]
34. A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion.
Franco LM; de Ravel T; Graham BH; Frenkel SM; Van Driessche J; Stankiewicz P; Lupski JR; Vermeesch JR; Cheung SW
Eur J Hum Genet; 2010 Feb; 18(2):258-61. PubMed ID: 19844260
[TBL] [Abstract][Full Text] [Related]
35. 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]
36. 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]
37. Phenotypic variability in a three-generation Northern Irish family with Sotos syndrome.
Donnelly DE; Turnpenny P; McConnell VPM
Clin Dysmorphol; 2011 Oct; 20(4):175-181. PubMed ID: 21738022
[TBL] [Abstract][Full Text] [Related]
38. Twenty-year follow-up of the facial phenotype of Brazilian patients with Sotos syndrome.
Castro MAA; Dos Santos JHV; Honjo RS; Yamamoto GL; Bertola DR; Hurst AC; Chorich LP; Layman LC; Kim CA; Kim HG
Am J Med Genet A; 2021 Dec; 185(12):3916-3923. PubMed ID: 34405946
[TBL] [Abstract][Full Text] [Related]
39. 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]
40. 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]
[Previous] [Next] [New Search]
