211 related articles for article (PubMed ID: 34405946)
1. 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]
2. Further delineation of Malan syndrome.
Priolo M; Schanze D; Tatton-Brown K; Mulder PA; Tenorio J; Kooblall K; Acero IH; Alkuraya FS; Arias P; Bernardini L; Bijlsma EK; Cole T; Coubes C; Dapia I; Davies S; Di Donato N; Elcioglu NH; Fahrner JA; Foster A; González NG; Huber I; Iascone M; Kaiser AS; Kamath A; Liebelt J; Lynch SA; Maas SM; Mammì C; Mathijssen IB; McKee S; Menke LA; Mirzaa GM; Montgomery T; Neubauer D; Neumann TE; Pintomalli L; Pisanti MA; Plomp AS; Price S; Salter C; Santos-Simarro F; Sarda P; Segovia M; Shaw-Smith C; Smithson S; Suri M; Valdez RM; Van Haeringen A; Van Hagen JM; Zollino M; Lapunzina P; Thakker RV; Zenker M; Hennekam RC
Hum Mutat; 2018 Sep; 39(9):1226-1237. PubMed ID: 29897170
[TBL] [Abstract][Full Text] [Related]
3. Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.
Tatton-Brown K; Murray A; Hanks S; Douglas J; Armstrong R; Banka S; Bird LM; Clericuzio CL; Cormier-Daire V; Cushing T; Flinter F; Jacquemont ML; Joss S; Kinning E; Lynch SA; Magee A; McConnell V; Medeira A; Ozono K; Patton M; Rankin J; Shears D; Simon M; Splitt M; Strenger V; Stuurman K; Taylor C; Titheradge H; Van Maldergem L; Temple IK; Cole T; Seal S; ; Rahman N
Am J Med Genet A; 2013 Dec; 161A(12):2972-80. PubMed ID: 24214728
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations.
Grand K; Gonzalez-Gandolfi C; Ackermann AM; Aljeaid D; Bedoukian E; Bird LM; De Leon DD; Diaz J; Hopkin RJ; Kadakia SP; Keena B; Klein KO; Krantz I; Leon E; Lord K; McDougall C; Medne L; Skraban CM; Stanley CA; Tarpinian J; Zackai E; Deardorff MA; Kalish JM
Am J Med Genet A; 2019 Apr; 179(4):542-551. PubMed ID: 30719864
[TBL] [Abstract][Full Text] [Related]
6. The phenotype of Sotos syndrome in adulthood: A review of 44 individuals.
Foster A; Zachariou A; Loveday C; Ashraf T; Blair E; Clayton-Smith J; Dorkins H; Fryer A; Gener B; Goudie D; Henderson A; Irving M; Joss S; Keeley V; Lahiri N; Lynch SA; Mansour S; McCann E; Morton J; Motton N; Murray A; Riches K; Shears D; Stark Z; Thompson E; Vogt J; Wright M; Cole T; Tatton-Brown K
Am J Med Genet C Semin Med Genet; 2019 Dec; 181(4):502-508. PubMed ID: 31479583
[TBL] [Abstract][Full Text] [Related]
7. Neuroimaging and clinical characterization of Sotos syndrome.
Türkmen S; Şahin S; Koçer N; Peters H; Mundlos S; Tüysüz B
Genet Couns; 2015; 26(1):1-12. PubMed ID: 26043501
[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. 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]
10. Disrupted epigenetics in the Sotos syndrome neurobehavioral phenotype.
Harris JR; Fahrner JA
Curr Opin Psychiatry; 2019 Mar; 32(2):55-59. PubMed ID: 30601169
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. Investigating cortical features of Sotos syndrome using mice heterozygous for Nsd1.
Oishi S; Zalucki O; Vega MS; Harkins D; Harvey TJ; Kasherman M; Davila RA; Hale L; White M; Piltz S; Thomas P; Burne THJ; Harris L; Piper M
Genes Brain Behav; 2020 Apr; 19(4):e12637. PubMed ID: 31909872
[TBL] [Abstract][Full Text] [Related]
14. 19p13.2 microduplication causes a Sotos syndrome-like phenotype and alters gene expression.
Lehman AM; du Souich C; Chai D; Eydoux P; Huang JL; Fok AK; Avila L; Swingland J; Delaney AD; McGillivray B; Goldowitz D; Argiropoulos B; Kobor MS; Boerkoel CF
Clin Genet; 2012 Jan; 81(1):56-63. PubMed ID: 21204797
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant.
Jezela-Stanek A; Kucharczyk M; Falana K; Jurkiewicz D; Mlynek M; Wicher D; Rydzanicz M; Kugaudo M; Cieslikowska A; Ciara E; Ploski R; Krajewska-Walasek M
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub; 2016 Mar; 160(1):161-7. PubMed ID: 26927468
[TBL] [Abstract][Full Text] [Related]
17. The first pineoblastoma case report of a patient with Sotos syndrome harboring NSD1 germline mutation.
Yue X; Liu B; Han T; Guo D; Ding R; Wang G
BMC Pediatr; 2024 Mar; 24(1):166. PubMed ID: 38459438
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. 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]
[Next] [New Search]
