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Select item 17349941.

Coffin-Lowry syndrome: clinical and molecular features

A Hanauer, I Young

J Med Genet. 2002 Oct; 39(10): 705–713. doi: 10.1136/jmg.39.10.705

PMCID:: PMC1734994

Summary PDF–314K

Select item 47463652.

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

Margot R.F. Reijnders, Vasilios Zachariadis, Brooke Latour, Lachlan Jolly, Grazia M. Mancini, Rolph Pfundt, Ka Man Wu, Conny M.A. van Ravenswaaij-Arts, Hermine E. Veenstra-Knol, Britt-Marie M. Anderlid, Stephen A. Wood, Sau Wai Cheung, Angela Barnicoat, Frank Probst, Pilar Magoulas, Alice S. Brooks, Helena Malmgren, Arja Harila-Saari, Carlo M. Marcelis, Maaike Vreeburg, Emma Hobson, V. Reid Sutton, Zornitza Stark, Julie Vogt, Nicola Cooper, Jiin Ying Lim, Sue Price, Angeline Hwei Meeng Lai, Deepti Domingo, Bruno Reversade, the DDD Study, Jozef Gecz, Christian Gilissen, Han G. Brunner, Usha Kini, Ronald Roepman, Ann Nordgren, Tjitske Kleefstra

Am J Hum Genet. 2016 Feb 4; 98(2): 373–381. Published online 2016 Jan 28. doi: 10.1016/j.ajhg.2015.12.015

PMCID:: PMC4746365

Abstract Article PDF–1.7M

Select item 45732693.

THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability

Raman Kumar, Mark A. Corbett, Bregje W.M. van Bon, Joshua A. Woenig, Lloyd Weir, Evelyn Douglas, Kathryn L. Friend, Alison Gardner, Marie Shaw, Lachlan A. Jolly, Chuan Tan, Matthew F. Hunter, Anna Hackett, Michael Field, Elizabeth E. Palmer, Melanie Leffler, Carolyn Rogers, Jackie Boyle, Melanie Bienek, Corinna Jensen, Griet Van Buggenhout, Hilde Van Esch, Katrin Hoffmann, Martine Raynaud, Huiying Zhao, Robin Reed, Hao Hu, Stefan A. Haas, Eric Haan, Vera M. Kalscheuer, Jozef Gecz

Am J Hum Genet. 2015 Aug 6; 97(2): 302–310. doi: 10.1016/j.ajhg.2015.05.021

PMCID:: PMC4573269

Abstract Article PDF–1.4M

Select item 44044934.

Donor Splice-Site Mutation in CUL4B is Likely Cause of X-Linked Intellectual Disability

Eric R. Londin, Jeffrey Adijanto, Nancy Philp, Antonio Novelli, Emilia Vitale, Chiara Perria, Gigliola Serra, Viola Alesi, Saul Surrey, Paolo Fortina

Am J Med Genet A. Author manuscript; available in PMC 2015 Apr 21.

Published in final edited form as: Am J Med Genet A. 2014 Sep; 0(9): 2294–2299. Published online 2014 Jun 4. doi: 10.1002/ajmg.a.36629

PMCID:: PMC4404493

Abstract Article PDF–679K

Select item 43267085.

Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders

Almundher Al-Maawali, Lucie Dupuis, Susan Blaser, Elise Heon, Mark Tarnopolsky, Fathiya Al-Murshedi, Christian R Marshall, Tara Paton, Stephen W Scherer, for the FORGE Canada Consortium, Jeroen Roelofsen, André BP van Kuilenburg, Roberto Mendoza-Londono

Eur J Hum Genet. 2015 Mar; 23(3): 310–316. Published online 2014 Jun 25. doi: 10.1038/ejhg.2014.112

PMCID:: PMC4326708

Abstract Article PDF–1.3M

Select item 43047966.

Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome

Matthew F. Pescosolido, David M. Stein, Michael Schmidt, Christelle Moufawad El Achkar, Mark Sabbagh, Jeffrey M. Rogg, Umadevi Tantravahi, Rebecca L. McLean, Judy S. Liu, Annapurna Poduri, Eric M. Morrow

Ann Neurol. Author manuscript; available in PMC 2015 Oct 1.

Published in final edited form as: Ann Neurol. 2014 Oct; 76(4): 581–593. Published online 2014 Sep 19. doi: 10.1002/ana.24225

PMCID:: PMC4304796

Abstract Article PDF–1.2M

Select item 37498647.

A Y328C missense mutation in spermine synthase causes a mild form of Snyder–Robinson syndrome

Zhe Zhang, Joy Norris, Vera Kalscheuer, Tim Wood, Lin Wang, Charles Schwartz, Emil Alexov, Hilde Van Esch

Hum Mol Genet. 2013 Sep 15; 22(18): 3789–3797. Published online 2013 May 21. doi: 10.1093/hmg/ddt229

PMCID:: PMC3749864

Abstract Article PDF–614K

Select item 31277458.

Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome

Hala Mégarbané, André Mégarbané

Orphanet J Rare Dis. 2011; 6: 29. Published online 2011 May 21. doi: 10.1186/1750-1172-6-29

PMCID:: PMC3127745

Abstract Article PDF–424K

Select item 17853369.

Mutations in CUL4B, Which Encodes a Ubiquitin E3 Ligase Subunit, Cause an X-linked Mental Retardation Syndrome Associated with Aggressive Outbursts, Seizures, Relative Macrocephaly, Central Obesity, Hypogonadism, Pes Cavus, and Tremor

Patrick S. Tarpey, F. Lucy Raymond, Sarah O’Meara, Sarah Edkins, Jon Teague, Adam Butler, Ed Dicks, Claire Stevens, Calli Tofts, Tim Avis, Syd Barthorpe, Gemma Buck, Jennifer Cole, Kristian Gray, Kelly Halliday, Rachel Harrison, Katy Hills, Andrew Jenkinson, David Jones, Andrew Menzies, Tatiana Mironenko, Janet Perry, Keiran Raine, David Richardson, Rebecca Shepherd, Alexandra Small, Jennifer Varian, Sofie West, Sara Widaa, Uma Mallya, Jenny Moon, Ying Luo, Susan Holder, Sarah F. Smithson, Jane A. Hurst, Jill Clayton-Smith, Bronwyn Kerr, Jackie Boyle, Marie Shaw, Lucianne Vandeleur, Jayson Rodriguez, Rachel Slaugh, Douglas F. Easton, Richard Wooster, Martin Bobrow, Anand K. Srivastava, Roger E. Stevenson, Charles E. Schwartz, Gillian Turner, Jozef Gecz, P. Andrew Futreal, Michael R. Stratton, Michael Partington

Am J Hum Genet. 2007 Feb; 80(2): 345–352. Published online 2007 Jan 4. doi: 10.1086/511134

PMCID:: PMC1785336

Abstract Article PDF–3.5M

Select item 578827210.

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

Stéphanie Moortgat, Siren Berland, Ingvild Aukrust, Isabelle Maystadt, Laura Baker, Valerie Benoit, Alfonso Caro-Llopis, Nicola S. Cooper, François-Guillaume Debray, Laurence Faivre, Thatjana Gardeitchik, Bjørn I. Haukanes, Gunnar Houge, Emma Kivuva, Francisco Martinez, Sarju G. Mehta, Marie-Cécile Nassogne, Nina Powell-Hamilton, Rolph Pfundt, Monica Rosello, Trine Prescott, Pradeep Vasudevan, Barbara van Loon, Christine Verellen-Dumoulin, Alain Verloes, Charlotte von der Lippe, Emma Wakeling, Andrew O. M. Wilkie, Louise Wilson, Amy Yuen, DDD Study, Karen J. Low, Ruth A. Newbury-Ecob

Eur J Hum Genet. 2018 Jan; 26(1): 64–74. Published online 2017 Nov 27. doi: 10.1038/s41431-017-0038-6