162 related articles for article (PubMed ID: 21084978)
1. Persistent falcine sinus and unilateral renal agenesis in a girl with Sotos syndrome.
Su PH; Yu JS; Chen SJ; Chen JY; Tsao TF
Clin Dysmorphol; 2011 Jan; 20(1):42-46. PubMed ID: 21084978
[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. 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]
4. 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]
5. Case Report of Neonatal Sotos Syndrome with a New Missense Mutation in the
Jin HY; Li HF; Xu JL; Hui W; Ruan WC; Lv CC; Xu RA; Qiang S
Medicina (Kaunas); 2022 Jul; 58(7):. PubMed ID: 35888687
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. Novel missense mutation (L1917P) involving sac-domain of NSD1 gene in a patient with Sotos syndrome.
Nicita F; Tarani L; Spalice A; Grasso M; Papetti L; Cecconi M; Biasi CD; Ursitti F; Iannetti P
J Genet; 2011 Apr; 90(1):147-50. PubMed ID: 21677402
[No Abstract] [Full Text] [Related]
9. 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]
10. 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]
11. 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]
12. 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]
13. 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]
14. 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]
15. 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]
16. 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]
17. 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]
18. 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]
19. 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]
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]
