PMC Articles for MedGen (Select 375687) - PMC

Select item 100925561.

Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes

Nuno Maia, Nekane Ibarluzea, Mala Misra‐Isrie, Daniel C. Koboldt, Isabel Marques, Gabriela Soares, Rosário Santos, Carlo L. M. Marcelis, Riikka Keski‐Filppula, Miriam Guitart, Elisabeth Gabau Vila, April Lehman, Scott Hickey, Mari Mori, Paulien Terhal, Irene Valenzuela, Amaia Lasa‐Aranzasti, Anna Maria Cueto‐González, Brian H. Chhouk, Rebecca C. Yeh, Jennifer E. Neil, Bassam Abu‐Libde, Tjitske Kleefstra, Mariet W. Elting, Andrea Császár, Judit Kárteszi, Beáta Bessenyei, Hans van Bokhoven, Paula Jorge, Johanna M. van Hagen, Arjan P. M. de Brouwer

Am J Med Genet A. 2023 Jan; 191(1): 135–143. Published online 2022 Oct 22. doi: 10.1002/ajmg.a.63004

PMCID:: PMC10092556

Abstract Article PDF–1.8M

Select item 84718172.

MED12 Mutation in Two Families with X-Linked Ohdo Syndrome

Luca Rocchetti, Eloisa Evangelista, Luigia De Falco, Giovanni Savarese, Pasquale Savarese, Raffaella Ruggiero, Luigi D’Amore, Alberto Sensi, Antonio Fico

Genes (Basel) 2021 Sep; 12(9): 1328. Published online 2021 Aug 27. doi: 10.3390/genes12091328

PMCID:: PMC8471817

Abstract Article PDF–889K

Select item 81469383.

Stijn R. van de Plassche, Arjan P. M. de Brouwer

Genes (Basel) 2021 May; 12(5): 663. Published online 2021 Apr 28. doi: 10.3390/genes12050663

PMCID:: PMC8146938

Abstract Article PDF–2.4M

Select item 80584984.

Emerging role of non‐coding RNA in health and disease

Gurjit Kaur Bhatti, Naina Khullar, Inderpal Singh Sidhu, Uma Shanker Navik, Arubala P. Reddy, P. Hemachandra Reddy, Jasvinder Singh Bhatti

Metab Brain Dis. 2021; 36(6): 1119–1134. Published online 2021 Apr 21. doi: 10.1007/s11011-021-00739-y

PMCID:: PMC8058498

Abstract Article PDF–849K

Select item 70571275.

A male infant with Xq22.2q22.3 duplication containing PLP1 and MID2

Swati R. Chanchani, Hongyan Xie, Gurbax Sekhon, Ana M. Melikishvili, Sue Moyer Harasink, Harpreet Pall, Philip F. Giampietro

Mol Genet Genomic Med. 2020 Mar; 8(3): e1078. Published online 2020 Jan 17. doi: 10.1002/mgg3.1078

PMCID:: PMC7057127

Abstract Article PDF–650K

Select item 48755286.

MED12 mutations in human diseases

Hua Wang, Qin Shen, Li-hua Ye, Jun Ye

Protein Cell. 2013 Sep; 4(9): 643–646. Published online 2013 Jul 8. doi: 10.1007/s13238-013-3048-3

PMCID:: PMC4875528

Abstract Article PDF–170K

Select item 41090597.

Activating RNAs associate with Mediator to enhance chromatin architecture and transcription

Fan Lai, Ulf A Orom, Matteo Cesaroni, Malte Beringer, Dylan J Taatjes, Gerd A. Blobel, Ramin Shiekhattar

Nature. Author manuscript; available in PMC 2014 Jul 24.

Published in final edited form as: Nature. 2013 Feb 28; 494(7438): 497–501. Published online 2013 Feb 17. doi: 10.1038/nature11884

PMCID:: PMC4109059

Abstract Article PDF–966K

Select item 38393018.

MED12 Related Disorders

John M. Graham, Jr., Charles E. Schwartz

Am J Med Genet A. Author manuscript; available in PMC 2014 Nov 1.

Published in final edited form as: Am J Med Genet A. 2013 Nov; 161(11): 10.1002/ajmg.a.36183. Published online 2013 Oct 10. doi: 10.1002/ajmg.a.36183

PMCID:: PMC3839301

Abstract Article PDF–904K

Select item 30926009.

Behavior of 10 patients with FG Syndrome (Opitz-Kaveggia Syndrome) and the p.R961W Mutation in the MED12 Gene

John M Graham, Jr, Jeannie Visootsak, Elisabeth Dykens, Lillie Huddleston, Robin D Clark, Kenneth L Jones, John B Moeschler, John M Opitz, Jackie Morford, Richard Simensen, R. Curtis Rogers, Charles E Schwartz, Michael J Friez, Roger E Stevenson

Am J Med Genet A. Author manuscript; available in PMC 2011 May 11.

Published in final edited form as: Am J Med Genet A. 2008 Dec 1; 146A(23): 3011–3017. doi: 10.1002/ajmg.a.32553

PMCID:: PMC3092600

Abstract Article PDF–216K

Select item 296739610.

Behavioral Features in Young Adults with FG Syndrome (Opitz-Kaveggia Syndrome)

John M Graham, Jr, Robin D Clark, John B Moeschler, R. Curtis Rogers

Am J Med Genet C Semin Med Genet. Author manuscript; available in PMC 2011 Nov 15.

Published in final edited form as: Am J Med Genet C Semin Med Genet. 2010 Nov 15; 154C(4): 477–485. doi: 10.1002/ajmg.c.30284

PMCID:: PMC2967396

Abstract Article PDF–212K

Select item 6477911.

MID1 and MID2 homo- and heterodimerise to tether the rapamycin-sensitive PP2A regulatory subunit, Alpha 4, to microtubules: implications for the clinical variability of X-linked Opitz GBBB syndrome and other developmental disorders

Kieran M Short, Blair Hopwood, Zou Yi, Timothy C Cox

BMC Cell Biol. 2002; 3: 1. Published online 2002 Jan 4. doi: 10.1186/1471-2121-3-1

PMCID:: PMC64779

Abstract Article PDF–1.8M

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