184 related articles for article (PubMed ID: 30729724)
1. 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]
2. MED12 mutations link intellectual disability syndromes with dysregulated GLI3-dependent Sonic Hedgehog signaling.
Zhou H; Spaeth JM; Kim NH; Xu X; Friez MJ; Schwartz CE; Boyer TG
Proc Natl Acad Sci U S A; 2012 Nov; 109(48):19763-8. PubMed ID: 23091001
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. 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]
6. MED12-related XLID disorders are dose-dependent of immediate early genes (IEGs) expression.
Donnio LM; Bidon B; Hashimoto S; May M; Epanchintsev A; Ryan C; Allen W; Hackett A; Gecz J; Skinner C; Stevenson RE; de Brouwer APM; Coutton C; Francannet C; Jouk PS; Schwartz CE; Egly JM
Hum Mol Genet; 2017 Jun; 26(11):2062-2075. PubMed ID: 28369444
[TBL] [Abstract][Full Text] [Related]
7.
Plassche SV; Brouwer AP
Genes (Basel); 2021 Apr; 12(5):. PubMed ID: 33925166
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. 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]
11. 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]
12. Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities?
Hackmann K; Rump A; Haas SA; Lemke JR; Fryns JP; Tzschach A; Wieczorek D; Albrecht B; Kuechler A; Ripperger T; Kobelt A; Oexle K; Tinschert S; Schrock E; Kalscheuer VM; Di Donato N
Am J Med Genet A; 2016 Jan; 170A(1):94-102. PubMed ID: 26358559
[TBL] [Abstract][Full Text] [Related]
13. Mediator modulates Gli3-dependent Sonic hedgehog signaling.
Zhou H; Kim S; Ishii S; Boyer TG
Mol Cell Biol; 2006 Dec; 26(23):8667-82. PubMed ID: 17000779
[TBL] [Abstract][Full Text] [Related]
14. Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation.
Lesca G; Moizard MP; Bussy G; Boggio D; Hu H; Haas SA; Ropers HH; Kalscheuer VM; Des Portes V; Labalme A; Sanlaville D; Edery P; Raynaud M; Lespinasse J
Am J Med Genet A; 2013 Dec; 161A(12):3063-71. PubMed ID: 24039113
[TBL] [Abstract][Full Text] [Related]
15. The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene.
Schwartz CE; Tarpey PS; Lubs HA; Verloes A; May MM; Risheg H; Friez MJ; Futreal PA; Edkins S; Teague J; Briault S; Skinner C; Bauer-Carlin A; Simensen RJ; Joseph SM; Jones JR; Gecz J; Stratton MR; Raymond FL; Stevenson RE
J Med Genet; 2007 Jul; 44(7):472-7. PubMed ID: 17369503
[TBL] [Abstract][Full Text] [Related]
16. Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.
De Mori R; Romani M; D'Arrigo S; Zaki MS; Lorefice E; Tardivo S; Biagini T; Stanley V; Musaev D; Fluss J; Micalizzi A; Nuovo S; Illi B; Chiapparini L; Di Marcotullio L; Issa MY; Anello D; Casella A; Ginevrino M; Leggins AS; Roosing S; Alfonsi R; Rosati J; Schot R; Mancini GMS; Bertini E; Dobyns WB; Mazza T; Gleeson JG; Valente EM
Am J Hum Genet; 2017 Oct; 101(4):552-563. PubMed ID: 28965847
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. MED12 mutations in human diseases.
Wang H; Shen Q; Ye LH; Ye J
Protein Cell; 2013 Sep; 4(9):643-6. PubMed ID: 23836153
[TBL] [Abstract][Full Text] [Related]
19. 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]
20.
Wang C; Lin L; Xue Y; Wang Y; Liu Z; Ou Z; Wu S; Lan X; Zhang Y; Yuan F; Luo X; Wang C; Xi J; Sun X; Chen Y
Front Genet; 2020; 11():129. PubMed ID: 32174975
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
