PMC Articles for MedGen (Select 162905) - PMC

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 63802054.

Chronic Otitis Media Associated with Cholesteatoma in a Case of the Say-Barber-Biesecker-Young-Simpson Variant of Ohdo Syndrome

Bruno Galletti, Francesco Gazia, Francesco Freni, Rita Angela Nicita, Rocco Bruno, Francesco Galletti

Am J Case Rep. 2019; 20: 175–178. Published online 2019 Feb 10. doi: 10.12659/AJCR.913893

PMCID:: PMC6380205

Abstract Article PDF–1.6M

Select item 55485265.

Clinical Variability in Familial X-Linked Ohdo Syndrome–Maat-Kievit-Brunner Type with MED12 Mutation

Siddaramappa J. Patil, Puneeth H. Somashekar, Anju Shukla, Satish Siddaiah, Venkatraman Bhat, Katta M. Girisha, Pooja N. Rao

J Pediatr Genet. 2017 Sep; 6(3): 198–204. Published online 2017 Apr 24. doi: 10.1055/s-0037-1602386

PMCID:: PMC5548526

Abstract Article PDF–161K

Select item 35918456.

Mutations in MED12 Cause X-Linked Ohdo Syndrome

Anneke T. Vulto-van Silfhout, Bert B.A. de Vries, Bregje W.M. van Bon, Alexander Hoischen, Martina Ruiterkamp-Versteeg, Christian Gilissen, Fangjian Gao, Marloes van Zwam, Cornelis L. Harteveld, Anthonie J. van Essen, Ben C.J. Hamel, Tjitske Kleefstra, Michèl A.A.P. Willemsen, Helger G. Yntema, Hans van Bokhoven, Han G. Brunner, Thomas G. Boyer, Arjan P.M. de Brouwer

Am J Hum Genet. 2013 Mar 7; 92(3): 401–406. doi: 10.1016/j.ajhg.2013.01.007

PMCID:: PMC3591845

Abstract Article PDF–554K

Select item 32133997.

Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome

Jill Clayton-Smith, James O'Sullivan, Sarah Daly, Sanjeev Bhaskar, Ruth Day, Beverley Anderson, Anne K. Voss, Tim Thomas, Leslie G. Biesecker, Philip Smith, Alan Fryer, Kate E. Chandler, Bronwyn Kerr, May Tassabehji, Sally-Ann Lynch, Malgorzata Krajewska-Walasek, Shane McKee, Janine Smith, Elizabeth Sweeney, Sahar Mansour, Shehla Mohammed, Dian Donnai, Graeme Black

Am J Hum Genet. 2011 Nov 11; 89(5): 675–681. doi: 10.1016/j.ajhg.2011.10.008

PMCID:: PMC3213399

Abstract Article PDF–538K

Select item 10167848.

The Ohdo blepharophimosis syndrome: a third case.

L G Biesecker

J Med Genet. 1991 Feb; 28(2): 131–134. doi: 10.1136/jmg.28.2.131

PMCID:: PMC1016784

Summary Page Browse PDF–568K

Select item 107244969.

Clinical heterogeneity of polish patients with KAT6B–related disorder

Klaniewska Magdalena, Bolanowska‐Tyszko Anna, Latos‐Bielenska Anna, Jezela‐Stanek Aleksandra, Szczaluba Krzysztof, Krajewska‐Walasek Malgorzata, Ciara Elzbieta, Pelc Magdalena, Jurkiewicz Dorota, Stawinski Piotr, Zubkiewicz‐Kucharska Agnieszka, Rydzanicz Małgorzata, Ploski Rafal, Smigiel Robert

Mol Genet Genomic Med. 2023 Dec; 11(12): e2265. Published online 2023 Sep 1. doi: 10.1002/mgg3.2265

PMCID:: PMC10724496

Abstract Article PDF–943K

Select item 1009255610.

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 814693811.

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 574930312.

Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability

Mark J Hamilton, Richard C Caswell, Natalie Canham, Trevor Cole, Helen V Firth, Nicola Foulds, Ketil Heimdal, Emma Hobson, Gunnar Houge, Shelagh Joss, Dhavendra Kumar, Anne Katrin Lampe, Isabelle Maystadt, Victoria McKay, Kay Metcalfe, Ruth Newbury-Ecob, Soo-Mi Park, Leema Robert, Cecilie F Rustad, Emma Wakeling, Andrew O M Wilkie, The Deciphering Developmental Disorders Study, Stephen R F Twigg, Mohnish Suri

J Med Genet. 2018 Jan; 55(1): 28–38. Published online 2017 Oct 11. doi: 10.1136/jmedgenet-2017-104620

PMCID:: PMC5749303

Abstract Article PDF–1.3M

Select item 383930113.

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 369635214.

Philippe M Campeau, James T Lu, Brian C Dawson, Ivo F A C Fokkema, Stephen P Robertson, Richard A Gibbs, Brendan H Lee

Hum Mutat. Author manuscript; available in PMC 2013 Jun 29.

Published in final edited form as: Hum Mutat. 2012 Nov; 33(11): 1520–1525. Published online 2012 Jul 12. doi: 10.1002/humu.22141

PMCID:: PMC3696352

Abstract Article PDF–1.9M

Select item 327665915.

Mutations in KAT6B, Encoding a Histone Acetyltransferase, Cause Genitopatellar Syndrome

Philippe M. Campeau, Jaeseung C. Kim, James T. Lu, Jeremy A. Schwartzentruber, Omar A. Abdul-Rahman, Silke Schlaubitz, David M. Murdock, Ming-Ming Jiang, Edward J. Lammer, Gregory M. Enns, William J. Rhead, Jon Rowland, Stephen P. Robertson, Valérie Cormier-Daire, Matthew N. Bainbridge, Xiang-Jiao Yang, Marie-Claude Gingras, Richard A. Gibbs, David S. Rosenblatt, Jacek Majewski, Brendan H. Lee

Am J Hum Genet. 2012 Feb 10; 90(2): 282–289. doi: 10.1016/j.ajhg.2011.11.023