211 related articles for article (PubMed ID: 28544239)
1. 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]
2. 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]
3. 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]
4. 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]
5.
Plassche SV; Brouwer AP
Genes (Basel); 2021 Apr; 12(5):. PubMed ID: 33925166
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Behavioral features in young adults with FG syndrome (Opitz-Kaveggia syndrome).
Graham JM; Clark RD; Moeschler JB; Rogers RC
Am J Med Genet C Semin Med Genet; 2010 Nov; 154C(4):477-85. PubMed ID: 20981778
[TBL] [Abstract][Full Text] [Related]
8. The FG syndrome from a pathological perspective.
Neri C; Moser K; Pysher TJ; Boettger DR; Neri G; Opitz JM
Fetal Pediatr Pathol; 2011; 30(2):71-6. PubMed ID: 21391746
[TBL] [Abstract][Full Text] [Related]
9. A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome).
Rump P; Niessen RC; Verbruggen KT; Brouwer OF; de Raad M; Hordijk R
Clin Genet; 2011 Feb; 79(2):183-8. PubMed ID: 20507344
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. 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]
13. 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]
14. FG syndrome: the FGS2 locus revisited.
Perche O; Laudier B; Menuet A; Odent S; Laumonnier F; Briault S
Am J Med Genet A; 2012 Jun; 158A(6):1489-92. PubMed ID: 22528511
[No Abstract] [Full Text] [Related]
15. 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]
16. 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]
17. A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus.
Dunn P; Prigatano GP; Szelinger S; Roth J; Siniard AL; Claasen AM; Richholt RF; De Both M; Corneveaux JJ; Moskowitz AM; Balak C; Piras IS; Russell M; Courtright AL; Belnap N; Rangasamy S; Ramsey K; Opitz JM; Craig DW; Narayanan V; Huentelman MJ; Schrauwen I
Am J Med Genet A; 2017 Mar; 173(3):611-617. PubMed ID: 28139025
[TBL] [Abstract][Full Text] [Related]
18. Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome.
Lyons MJ; Graham JM; Neri G; Hunter AG; Clark RD; Rogers RC; Moscarda M; Boccuto L; Simensen R; Dodd J; Robertson S; DuPont BR; Friez MJ; Schwartz CE; Stevenson RE
J Med Genet; 2009 Jan; 46(1):9-13. PubMed ID: 18805826
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]
