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 *

158 related articles for article (PubMed ID: 31643139)

  • 1. SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature.
    Marzin P; Rondeau S; Aldinger KA; Alessandri JL; Isidor B; Heron D; Keren B; Dobyns WB; Cormier-Daire V
    Am J Med Genet C Semin Med Genet; 2019 Dec; 181(4):509-518. PubMed ID: 31643139
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Two novel cases expanding the phenotype of SETD2-related overgrowth syndrome.
    van Rij MC; Hollink IHIM; Terhal PA; Kant SG; Ruivenkamp C; van Haeringen A; Kievit JA; van Belzen MJ
    Am J Med Genet A; 2018 May; 176(5):1212-1215. PubMed ID: 29681085
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mutation pattern and genotype-phenotype correlations of SETD2 in neurodevelopmental disorders.
    Chen M; Quan Y; Duan G; Wu H; Bai T; Wang Y; Zhou S; Ou J; Shen Y; Hu Z; Xia K; Guo H
    Eur J Med Genet; 2021 May; 64(5):104200. PubMed ID: 33766796
    [TBL] [Abstract][Full Text] [Related]  

  • 5.
    Tlemsani C; Luscan A; Leulliot N; Bieth E; Afenjar A; Baujat G; Doco-Fenzy M; Goldenberg A; Lacombe D; Lambert L; Odent S; Pasche J; Sigaudy S; Buffet A; Violle-Poirsier C; Briand-Suleau A; Laurendeau I; Chin M; Saugier-Veber P; Vidaud D; Cormier-Daire V; Vidaud M; Pasmant E; Burglen L
    J Med Genet; 2016 Nov; 53(11):743-751. PubMed ID: 27317772
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Clinical Heterogeneity and Different Phenotypes in Patients with
    Parra A; Rabin R; Pappas J; Pascual P; Cazalla M; Arias P; Gallego-Zazo N; Santana A; Arroyo I; Artigas M; Pachajoa H; Alanay Y; Akgun-Dogan O; Ruaud L; Couque N; Levy J; Porras-Hurtado GL; Santos-Simarro F; Ballesta-Martinez MJ; Guillén-Navarro E; Muñoz-Hernández H; Nevado J; Spanish OverGrowth Registry Initiative ; Tenorio-Castano J; Lapunzina P
    Genes (Basel); 2023 May; 14(6):. PubMed ID: 37372360
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Genotype-phenotype correlation at codon 1740 of SETD2.
    Rabin R; Radmanesh A; Glass IA; Dobyns WB; Aldinger KA; Shieh JT; Romoser S; Bombei H; Dowsett L; Trapane P; Bernat JA; Baker J; Mendelsohn NJ; Popp B; Siekmeyer M; Sorge I; Sansbury FH; Watts P; Foulds NC; Burton J; Hoganson G; Hurst JA; Menzies L; Osio D; Kerecuk L; Cobben JM; Jizi K; Jacquemont S; Bélanger SA; Löhner K; Veenstra-Knol HE; Lemmink HH; Keller-Ramey J; Wentzensen IM; Punj S; McWalter K; Lenberg J; Ellsworth KA; Radtke K; Akbarian S; Pappas J
    Am J Med Genet A; 2020 Sep; 182(9):2037-2048. PubMed ID: 32710489
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Brief Report: SETD2 Mutation in a Child with Autism, Intellectual Disabilities and Epilepsy.
    Lumish HS; Wynn J; Devinsky O; Chung WK
    J Autism Dev Disord; 2015 Nov; 45(11):3764-70. PubMed ID: 26084711
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. Mutations in SETD2 and genes affecting histone H3K36 methylation target hemispheric high-grade gliomas.
    Fontebasso AM; Schwartzentruber J; Khuong-Quang DA; Liu XY; Sturm D; Korshunov A; Jones DT; Witt H; Kool M; Albrecht S; Fleming A; Hadjadj D; Busche S; Lepage P; Montpetit A; Staffa A; Gerges N; Zakrzewska M; Zakrzewski K; Liberski PP; Hauser P; Garami M; Klekner A; Bognar L; Zadeh G; Faury D; Pfister SM; Jabado N; Majewski J
    Acta Neuropathol; 2013 May; 125(5):659-69. PubMed ID: 23417712
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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]  

  • 18. Sotos syndrome treated with traditional Chinese medicine and rehabilitation: Case report.
    Chen S; Zou P; Ge L; Cheng X
    Medicine (Baltimore); 2023 Dec; 102(48):e36169. PubMed ID: 38050304
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Epigenetic inactivation of the Sotos overgrowth syndrome gene histone methyltransferase NSD1 in human neuroblastoma and glioma.
    Berdasco M; Ropero S; Setien F; Fraga MF; Lapunzina P; Losson R; Alaminos M; Cheung NK; Rahman N; Esteller M
    Proc Natl Acad Sci U S A; 2009 Dec; 106(51):21830-5. PubMed ID: 20018718
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Clinical and genetic features of luscan-lumish syndrome associated with a novel de novo variant of
    Zhang Y; Zhang H; Wu W; Wang D; Lv Y; Zhao D; Wang L; Liu Y; Zhang K
    Front Genet; 2023; 14():1081391. PubMed ID: 36777730
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 8.