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 *

245 related articles for article (PubMed ID: 24214728)

  • 1. 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]  

  • 2. EED and EZH2 constitutive variants: A study to expand the Cohen-Gibson syndrome phenotype and contrast it with Weaver syndrome.
    Griffiths S; Loveday C; Zachariou A; Behan LA; Chandler K; Cole T; D'Arrigo S; Dieckmann A; Foster A; Gibney J; Hunter M; Milani D; Pantaleoni C; Roche E; Sherlock M; Springer A; White SM; ; Tatton-Brown K
    Am J Med Genet A; 2019 Apr; 179(4):588-594. PubMed ID: 30793471
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.
    Tatton-Brown K; Hanks S; Ruark E; Zachariou A; Duarte Sdel V; Ramsay E; Snape K; Murray A; Perdeaux ER; Seal S; Loveday C; Banka S; Clericuzio C; Flinter F; Magee A; McConnell V; Patton M; Raith W; Rankin J; Splitt M; Strenger V; Taylor C; Wheeler P; Temple KI; Cole T; ; Douglas J; Rahman N
    Oncotarget; 2011 Dec; 2(12):1127-33. PubMed ID: 22190405
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Ezh2 Mutations Found in the Weaver Overgrowth Syndrome Cause a Partial Loss of H3K27 Histone Methyltransferase Activity.
    Lui JC; Barnes KM; Dong L; Yue S; Graber E; Rapaport R; Dauber A; Nilsson O; Baron J
    J Clin Endocrinol Metab; 2018 Apr; 103(4):1470-1478. PubMed ID: 29244146
    [TBL] [Abstract][Full Text] [Related]  

  • 6. EZH2 mutation in an adolescent with Weaver syndrome developing acute myeloid leukemia and secondary hemophagocytic lymphohistiocytosis.
    Usemann J; Ernst T; Schäfer V; Lehmberg K; Seeger K
    Am J Med Genet A; 2016 May; 170A(5):1274-7. PubMed ID: 26762561
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome.
    Imagawa E; Higashimoto K; Sakai Y; Numakura C; Okamoto N; Matsunaga S; Ryo A; Sato Y; Sanefuji M; Ihara K; Takada Y; Nishimura G; Saitsu H; Mizuguchi T; Miyatake S; Nakashima M; Miyake N; Soejima H; Matsumoto N
    Hum Mutat; 2017 Jun; 38(6):637-648. PubMed ID: 28229514
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro.
    Cohen AS; Yap DB; Lewis ME; Chijiwa C; Ramos-Arroyo MA; Tkachenko N; Milano V; Fradin M; McKinnon ML; Townsend KN; Xu J; Van Allen MI; Ross CJ; Dobyns WB; Weaver DD; Gibson WT
    Hum Mutat; 2016 Mar; 37(3):301-7. PubMed ID: 26694085
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Co-occurrence of a maternally inherited
    Polonis K; Blackburn PR; Urrutia RA; Lomberk GA; Kruisselbrink T; Cousin MA; Boczek NJ; Hoppman NL; Babovic-Vuksanovic D; Klee EW; Pichurin PN
    Cold Spring Harb Mol Case Stud; 2018 Aug; 4(4):. PubMed ID: 29802153
    [TBL] [Abstract][Full Text] [Related]  

  • 10. DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes.
    Choufani S; Gibson WT; Turinsky AL; Chung BHY; Wang T; Garg K; Vitriolo A; Cohen ASA; Cyrus S; Goodman S; Chater-Diehl E; Brzezinski J; Brudno M; Ming LH; White SM; Lynch SA; Clericuzio C; Temple IK; Flinter F; McConnell V; Cushing T; Bird LM; Splitt M; Kerr B; Scherer SW; Machado J; Imagawa E; Okamoto N; Matsumoto N; Testa G; Iascone M; Tenconi R; Caluseriu O; Mendoza-Londono R; Chitayat D; Cytrynbaum C; Tatton-Brown K; Weksberg R
    Am J Hum Genet; 2020 May; 106(5):596-610. PubMed ID: 32243864
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mutations in EZH2 cause Weaver syndrome.
    Gibson WT; Hood RL; Zhan SH; Bulman DE; Fejes AP; Moore R; Mungall AJ; Eydoux P; Babul-Hirji R; An J; Marra MA; ; Chitayat D; Boycott KM; Weaver DD; Jones SJ
    Am J Hum Genet; 2012 Jan; 90(1):110-8. PubMed ID: 22177091
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Three additional patients with EED-associated overgrowth: potential mutation hotspots identified?
    Spellicy CJ; Peng Y; Olewiler L; Cathey SS; Rogers RC; Bartholomew D; Johnson J; Alexov E; Lee JA; Friez MJ; Jones JR
    J Hum Genet; 2019 Jun; 64(6):561-572. PubMed ID: 30858506
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Novel de novo mutation affecting two adjacent aminoacids in the EED gene in a patient with Weaver syndrome.
    Smigiel R; Biernacka A; Biela M; Murcia-Pienkowski V; Szmida E; Gasperowicz P; Kosinska J; Kostrzewa G; Koppolu AA; Walczak A; Wawrzuta D; Rydzanicz M; Sasiadek M; Ploski R
    J Hum Genet; 2018 Apr; 63(4):517-520. PubMed ID: 29410511
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. A novel mutation in EED associated with overgrowth.
    Cohen AS; Tuysuz B; Shen Y; Bhalla SK; Jones SJ; Gibson WT
    J Hum Genet; 2015 Jun; 60(6):339-42. PubMed ID: 25787343
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Novel EED mutation in patient with Weaver syndrome.
    Cooney E; Bi W; Schlesinger AE; Vinson S; Potocki L
    Am J Med Genet A; 2017 Feb; 173(2):541-545. PubMed ID: 27868325
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Novel SUZ12 mutations in Weaver-like syndrome.
    Imagawa E; Albuquerque EVA; Isidor B; Mitsuhashi S; Mizuguchi T; Miyatake S; Takata A; Miyake N; Boguszewski MCS; Boguszewski CL; Lerario AM; Funari MA; Jorge AAL; Matsumoto N
    Clin Genet; 2018 Nov; 94(5):461-466. PubMed ID: 30019515
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A novel EZH2 gene variant in a case of Weaver syndrome with postaxial polydactyly.
    Turkkahraman D; Sakarya ANP; Randa NC
    Am J Med Genet A; 2021 Jul; 185(7):2234-2237. PubMed ID: 33788986
    [No Abstract]   [Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 13.