These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

218 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. A series of four patients with Sotos syndrome harboring novel NSD1 mutations: clinical and molecular description.
    Amllal N; Zerkaoui M; Jdioui W; Elalaoui SC; Sefiani A; Lyahyai J
    Mol Biol Rep; 2024 Aug; 51(1):885. PubMed ID: 39096335
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 11.