PMC Articles for MedGen (Select 394735) - PMC

Select item 51597451.

DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease

Jenifer P. Suntharalingham, Federica Buonocore, Andrew J. Duncan, John C. Achermann

Best Pract Res Clin Endocrinol Metab. Author manuscript; available in PMC 2016 Dec 16.

Published in final edited form as: Best Pract Res Clin Endocrinol Metab. 2015 Aug; 29(4): 607–619. Published online 2015 Jul 14. doi: 10.1016/j.beem.2015.07.004

PMCID:: PMC5159745

Abstract Article PDF–628K

Select item 43930152.

Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome

Paul Kruszka, Dong Li, Margaret H Harr, Nathan R Wilson, Daniel Swarr, Elizabeth M McCormick, Rosetta M Chiavacci, Mindy Li, Ariel F Martinez, Rachel A Hart, Donna M McDonald-McGinn, Matthew A Deardorff, Marni J Falk, Judith E Allanson, Cindy Hudson, John P Johnson, Irfan Saadi, Hakon Hakonarson, Maximilian Muenke, Elaine H Zackai

J Med Genet. Author manuscript; available in PMC 2015 Apr 10.

Published in final edited form as: J Med Genet. 2015 Feb; 52(2): 104–110. Published online 2014 Nov 20. doi: 10.1136/jmedgenet-2014-102677

PMCID:: PMC4393015

Abstract Article PDF–576K

Select item 38397083.

X-linked microtubule-associated protein, Mid1, regulates axon development

Tingjia Lu, Renchao Chen, Timothy C. Cox, Randal X. Moldrich, Nyoman Kurniawan, Guohe Tan, Jo K. Perry, Alan Ashworth, Perry F. Bartlett, Li Xu, Jing Zhang, Bin Lu, Mingyue Wu, Qi Shen, Yuanyuan Liu, Linda J. Richards, Zhiqi Xiong

Proc Natl Acad Sci U S A. 2013 Nov 19; 110(47): 19131–19136. Published online 2013 Nov 5. doi: 10.1073/pnas.1303687110

PMCID:: PMC3839708

Abstract Article PDF–1.2M

Select item 37744204.

The Opitz syndrome gene product MID1 assembles a microtubule-associated ribonucleoprotein complex

Beatriz Aranda-Orgillés, Alexander Trockenbacher, Jennifer Winter, Johanna Aigner, Andrea Köhler, Ewa Jastrzebska, Joachim Stahl, Eva-Christina Müller, Albrecht Otto, Erich E. Wanker, Rainer Schneider, Susann Schweiger

Hum Genet. 2008; 123(2): 163–176. Published online 2008 Jan 3. doi: 10.1007/s00439-007-0456-6

PMCID:: PMC3774420

Abstract Article PDF–635K

Select item 33228165.

Androgen Receptor Exon 1 Mutation Causes Androgen Insensitivity by Creating Phosphorylation Site and Inhibiting Melanoma Antigen-A11 Activation of NH₂- and Carboxyl-terminal Interaction-dependent Transactivation

William H. Lagarde, Amanda J. Blackwelder, John T. Minges, Andrew T. Hnat, Frank S. French, Elizabeth M. Wilson

J Biol Chem. 2012 Mar 30; 287(14): 10905–10915. Published online 2012 Feb 13. doi: 10.1074/jbc.M111.336081

PMCID:: PMC3322816

Abstract Article PDF–1.4M

Select item 12261886.

3q29 Microdeletion Syndrome: Clinical and Molecular Characterization of a New Syndrome

Lionel Willatt, James Cox, John Barber, Elisabet Dachs Cabanas, Amanda Collins, Dian Donnai, David R. FitzPatrick, Eddy Maher, Howard Martin, Josep Parnau, Lesley Pindar, Jacqueline Ramsay, Charles Shaw-Smith, Erik A. Sistermans, Michael Tettenborn, Dorothy Trump, Bert B. A. de Vries, Kate Walker, F. Lucy Raymond

Am J Hum Genet. 2005 Jul; 77(1): 154–160. Published online 2005 May 25. doi: 10.1086/431653

PMCID:: PMC1226188

Abstract Article PDF–1.1M

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