162 related articles for article (PubMed ID: 24795065)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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]
9. 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]
10. 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]
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. 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]
13. 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]
14. [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]
15. 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]
16. 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]
17. Sotos syndrome in two children from India.
Panigrahi I; Chaudhry C
Am J Med Genet A; 2020 Sep; 182(9):2181-2183. PubMed ID: 32677741
[TBL] [Abstract][Full Text] [Related]
18. Deletion of NSD1 exon 14 in Sotos syndrome: first description.
Piccione M; Consiglio V; Di Fiore A; Grasso M; Cecconi M; Perroni L; Corsello G
J Genet; 2011 Apr; 90(1):119-23. PubMed ID: 21677396
[No Abstract] [Full Text] [Related]
19. 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]
20. Sotos syndrome: A case report of 1st genetically proven case from Saudi Arabia with a novel mutation in NSD1 gene.
Kamal NM; Althobiti JM; Alsaedi A; Bakkar A; Alkaabi T
Medicine (Baltimore); 2018 Nov; 97(47):e12867. PubMed ID: 30461603
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
