PMC Articles for MedGen (Select 1794183) - PMC

Select item 69168151.

Mutations in MAGEL2 and L1CAM Are Associated With Congenital Hypopituitarism and Arthrogryposis

Louise C Gregory, Pratik Shah, Juliane R F Sanner, Monica Arancibia, Jane Hurst, Wendy D Jones, Helen Spoudeas, Polona Le Quesne Stabej, Hywel J Williams, Louise A Ocaka, Carolina Loureiro, Alejandro Martinez-Aguayo, Mehul T Dattani

J Clin Endocrinol Metab. 2019 Dec; 104(12): 5737–5750. Published online 2019 Jul 24. doi: 10.1210/jc.2019-00631

PMCID:: PMC6916815

Abstract Article

Select item 57774492.

KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis

Lucie Gueneau, Richard J. Fish, Hanan E. Shamseldin, Norine Voisin, Frédéric Tran Mau-Them, Egle Preiksaitiene, Glen R. Monroe, Angeline Lai, Audrey Putoux, Fabienne Allias, Qamariya Ambusaidi, Laima Ambrozaityte, Loreta Cimbalistienė, Julien Delafontaine, Nicolas Guex, Mais Hashem, Wesam Kurdi, Saumya Shekhar Jamuar, Lim J. Ying, Carine Bonnard, Tommaso Pippucci, Sylvain Pradervand, Bernd Roechert, Peter M. van Hasselt, Michaël Wiederkehr, Caroline F. Wright, DDD Study, Ioannis Xenarios, Gijs van Haaften, Charles Shaw-Smith, Erica M. Schindewolf, Marguerite Neerman-Arbez, Damien Sanlaville, Gaëtan Lesca, Laurent Guibaud, Bruno Reversade, Jamel Chelly, Vaidutis Kučinskas, Fowzan S. Alkuraya, Alexandre Reymond

Am J Hum Genet. 2018 Jan 4; 102(1): 116–132. Published online 2017 Dec 28. doi: 10.1016/j.ajhg.2017.12.002

PMCID:: PMC5777449

Abstract Article PDF–2.3M

Select item 55125013.

Postmortem Findings for 7 Neonates with Congenital Zika Virus Infection

Anastácio Q. Sousa, Diane I.M. Cavalcante, Luciano M. Franco, Fernanda M.C. Araújo, Emília T. Sousa, José Telmo Valença-Junior, Dionne B. Rolim, Maria E.L. Melo, Pedro D.T. Sindeaux, Marialva T.F. Araújo, Richard D. Pearson, Mary E. Wilson, Margarida M.L. Pompeu

Emerg Infect Dis. 2017 Jul; 23(7): 1164–1167. doi: 10.3201/eid2307.162019

PMCID:: PMC5512501

Abstract Article PDF–2.6M

Select item 49950314.

Desmosterolosis—Phenotypic and Molecular Characterization of a Third Case and Review of the Literature

Christian P. Schaaf, Janet Koster, Panagiotis Katsonis, Lisa Kratz, Oleg A. Shchelochkov, Fernando Scaglia, Richard I. Kelley, Olivier Lichtarge, Hans R. Waterham, Marwan Shinawi

Am J Med Genet A. Author manuscript; available in PMC 2016 Aug 23.

Published in final edited form as: Am J Med Genet A. 2011 Jul; 155A(7): 1597–1604. Published online 2011 Jun 10. doi: 10.1002/ajmg.a.34040

PMCID:: PMC4995031

Abstract Article PDF–879K

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