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 *

151 related articles for article (PubMed ID: 30006928)

  • 1. The power of the Mediator complex-Expanding the genetic architecture and phenotypic spectrum of MED12-related disorders.
    Charzewska A; Maiwald R; Kahrizi K; Oehl-Jaschkowitz B; Dufke A; Lemke JR; Enders H; Najmabadi H; Tzschach A; Hachmann W; Jensen C; Bienek M; Poznański J; Nawara M; Chilarska T; Obersztyn E; Hoffman-Zacharska D; Gos M; Bal J; Kalscheuer VM
    Clin Genet; 2018 Nov; 94(5):450-456. PubMed ID: 30006928
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Two male sibs with severe micrognathia and a missense variant in MED12.
    Prescott TE; Kulseth MA; Heimdal KR; Stadheim B; Hopp E; Gambin T; Coban Akdemir ZH; Jhangiani SN; Muzny DM; Gibbs RA; Lupski JR; Stray-Pedersen A
    Eur J Med Genet; 2016 Aug; 59(8):367-72. PubMed ID: 27286923
    [TBL] [Abstract][Full Text] [Related]  

  • 3. MED12 Mutation in Two Families with X-Linked Ohdo Syndrome.
    Rocchetti L; Evangelista E; De Falco L; Savarese G; Savarese P; Ruggiero R; D'Amore L; Sensi A; Fico A
    Genes (Basel); 2021 Aug; 12(9):. PubMed ID: 34573309
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Dysregulations of sonic hedgehog signaling in MED12-related X-linked intellectual disability disorders.
    Srivastava S; Niranjan T; May MM; Tarpey P; Allen W; Hackett A; Jouk PS; Raymond L; Briault S; Skinner C; Toutain A; Gecz J; Heath W; Stevenson RE; Schwartz CE; Wang T
    Mol Genet Genomic Med; 2019 Apr; 7(4):e00569. PubMed ID: 30729724
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum.
    Langley KG; Brown J; Gerber RJ; Fox J; Friez MJ; Lyons M; Schrier Vergano SA
    Am J Med Genet A; 2015 Dec; 167A(12):3180-5. PubMed ID: 26338144
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A novel MED12 mutation: Evidence for a fourth phenotype.
    Prontera P; Ottaviani V; Rogaia D; Isidori I; Mencarelli A; Malerba N; Cocciadiferro D; Rolph P; Stangoni G; Vulto-van Silfhout A; Merla G
    Am J Med Genet A; 2016 Sep; 170(9):2377-82. PubMed ID: 27312080
    [TBL] [Abstract][Full Text] [Related]  

  • 7. MED12 related disorders.
    Graham JM; Schwartz CE
    Am J Med Genet A; 2013 Nov; 161A(11):2734-40. PubMed ID: 24123922
    [TBL] [Abstract][Full Text] [Related]  

  • 8. MED12 variants associated with X-linked recessive partial epilepsy without intellectual disability.
    Yang JH; Liu ZG; Liu CL; Zhang MR; Jia YL; Zhai QX; He MF; He N; Qiao JD
    Seizure; 2024 Mar; 116():30-36. PubMed ID: 36894399
    [TBL] [Abstract][Full Text] [Related]  

  • 9. MED12 missense mutation in a three-generation family. Clinical characterization of MED12-related disorders and literature review.
    Rubinato E; Rondeau S; Giuliano F; Kossorotoff M; Parodi M; Gherbi S; Steffan J; Jonard L; Marlin S
    Eur J Med Genet; 2020 Mar; 63(3):103768. PubMed ID: 31536828
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.
    Maia N; Ibarluzea N; Misra-Isrie M; Koboldt DC; Marques I; Soares G; Santos R; Marcelis CLM; Keski-Filppula R; Guitart M; Gabau Vila E; Lehman A; Hickey S; Mori M; Terhal P; Valenzuela I; Lasa-Aranzasti A; Cueto-González AM; Chhouk BH; Yeh RC; Neil JE; Abu-Libde B; Kleefstra T; Elting MW; Császár A; Kárteszi J; Bessenyei B; van Bokhoven H; Jorge P; van Hagen JM; de Brouwer APM
    Am J Med Genet A; 2023 Jan; 191(1):135-143. PubMed ID: 36271811
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A novel variant in MED12 gene: Further delineation of phenotype.
    Narayanan DL; Phadke SR
    Am J Med Genet A; 2017 Aug; 173(8):2257-2260. PubMed ID: 28544239
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Novel MED12 variant in a multiplex Fragile X syndrome family: dual molecular etiology of two X-linked intellectual disabilities with autism in the same family.
    Lahbib S; Trabelsi M; Dallali H; Sakka R; Bourourou R; Kefi R; Mrad R; Abdelhak S; Gaddour N
    Mol Biol Rep; 2019 Aug; 46(4):4185-4193. PubMed ID: 31098807
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Qualitative and quantitative analysis of MED12 c.887G>A causing both missense and splicing variants in X-linked Ohdo syndrome.
    Togi S; Ura H; Niida Y
    Am J Med Genet A; 2024 Sep; 194(9):e63628. PubMed ID: 38655688
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mutations in MED12 cause X-linked Ohdo syndrome.
    Vulto-van Silfhout AT; de Vries BB; van Bon BW; Hoischen A; Ruiterkamp-Versteeg M; Gilissen C; Gao F; van Zwam M; Harteveld CL; van Essen AJ; Hamel BC; Kleefstra T; Willemsen MA; Yntema HG; van Bokhoven H; Brunner HG; Boyer TG; de Brouwer AP
    Am J Hum Genet; 2013 Mar; 92(3):401-6. PubMed ID: 23395478
    [TBL] [Abstract][Full Text] [Related]  

  • 15. De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females.
    Polla DL; Bhoj EJ; Verheij JBGM; Wassink-Ruiter JSK; Reis A; Deshpande C; Gregor A; Hill-Karfe K; Silfhout ATV; Pfundt R; Bongers EMHF; Hakonarson H; Berland S; Gradek G; Banka S; Chandler K; Gompertz L; Huffels SC; Stumpel CTRM; Wennekes R; Stegmann APA; Reardon W; Leenders EKSM; de Vries BBA; Li D; Zackai E; Ragge N; Lynch SA; Cuddapah S; van Bokhoven H; Zweier C; de Brouwer APM
    Genet Med; 2021 Apr; 23(4):645-652. PubMed ID: 33244165
    [TBL] [Abstract][Full Text] [Related]  

  • 16.
    Plassche SV; Brouwer AP
    Genes (Basel); 2021 Apr; 12(5):. PubMed ID: 33925166
    [TBL] [Abstract][Full Text] [Related]  

  • 17. De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females.
    Li D; Strong A; Shen KM; Cassiman D; Van Dyck M; Linhares ND; Valadares ER; Wang T; Pena SDJ; Jaeken J; Vergano S; Zackai E; Hing A; Chow P; Ganguly A; Scholz T; Bierhals T; Philipp D; Hakonarson H; Bhoj E
    Genet Med; 2021 Apr; 23(4):637-644. PubMed ID: 33244166
    [TBL] [Abstract][Full Text] [Related]  

  • 18. MED12 Loss-of-Function Variants as a Cause of Congenital Diaphragmatic Hernia in Females With Hardikar Syndrome and Nonspecific Intellectual Disability.
    Kao EC; Mizerik EA; Bacino CA; Dai H; Vossaert L; Scott DA
    Am J Med Genet A; 2025 Jan; 197(1):e63868. PubMed ID: 39215511
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Eye and ocular adnexa manifestations of
    Shah A; Bapna M; Al-Saif H; Li R; Couser NL
    Ophthalmic Genet; 2022 Feb; 43(1):126-129. PubMed ID: 34670449
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations.
    Isidor B; Lefebvre T; Le Vaillant C; Caillaud G; Faivre L; Jossic F; Joubert M; Winer N; Le Caignec C; Borck G; Pelet A; Amiel J; Toutain A; Ronce N; Raynaud M; Verloes A; David A
    Am J Med Genet A; 2014 Jul; 164A(7):1821-5. PubMed ID: 24715367
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.