PMC Articles for MedGen (Select 868323) - PMC

Select item 66834631.

De novo truncating variant in NSD2gene leading to atypical Wolf-Hirschhorn syndrome phenotype

Yanrui Jiang, Huizhen Sun, Qingmin Lin, Zengge Wang, Guanghai Wang, Jian Wang, Fan Jiang, Ruen Yao

BMC Med Genet. 2019; 20: 134. Published online 2019 Aug 5. doi: 10.1186/s12881-019-0863-2

PMCID:: PMC6683463

Select item 65495512.

β-Mannosidosis caused by a novel homozygous intragenic inverted duplication in MANBA

Maria Blomqvist, Marie Falkenberg Smeland, Julia Lindgren, Per Sikora, Hilde Monica Frostad Riise Stensland, Jorge Asin-Cayuela

Cold Spring Harb Mol Case Stud. 2019 Jun; 5(3): a003954. doi: 10.1101/mcs.a003954

PMCID:: PMC6549551

Abstract Article PDF–5.6M

Select item 59921333.

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

Margot R.F. Reijnders, Kerry A. Miller, Mohsan Alvi, Jacqueline A.C. Goos, Melissa M. Lees, Anna de Burca, Alex Henderson, Alison Kraus, Barbara Mikat, Bert B.A. de Vries, Bertrand Isidor, Bronwyn Kerr, Carlo Marcelis, Caroline Schluth-Bolard, Charu Deshpande, Claudia A.L. Ruivenkamp, Dagmar Wieczorek, The Deciphering Developmental Disorders Study, Diana Baralle, Edward M. Blair, Hartmut Engels, Hermann-Josef Lüdecke, Jacqueline Eason, Gijs W.E. Santen, Jill Clayton-Smith, Kate Chandler, Katrina Tatton-Brown, Katelyn Payne, Katherine Helbig, Kelly Radtke, Kimberly M. Nugent, Kirsten Cremer, Tim M. Strom, Lynne M. Bird, Margje Sinnema, Maria Bitner-Glindzicz, Marieke F. van Dooren, Marielle Alders, Marije Koopmans, Lauren Brick, Mariya Kozenko, Megan L. Harline, Merel Klaassens, Michelle Steinraths, Nicola S. Cooper, Patrick Edery, Patrick Yap, Paulien A. Terhal, Peter J. van der Spek, Phillis Lakeman, Rachel L. Taylor, Rebecca O. Littlejohn, Rolph Pfundt, Saadet Mercimek-Andrews, Alexander P.A. Stegmann, Sarina G. Kant, Scott McLean, Shelagh Joss, Sigrid M.A. Swagemakers, Sofia Douzgou, Steven A. Wall, Sébastien Küry, Eduardo Calpena, Nils Koelling, Simon J. McGowan, Stephen R.F. Twigg, Irene M.J. Mathijssen, Christoffer Nellaker, Han G. Brunner, Andrew O.M. Wilkie

Am J Hum Genet. 2018 Jun 7; 102(6): 1195–1203. Published online 2018 May 31. doi: 10.1016/j.ajhg.2018.04.014

PMCID:: PMC5992133

Abstract Article PDF–1.3M

Select item 55890714.

Truncating Mutations in the Last Exon of NOTCH3 Cause Lateral Meningocele Syndrome

Karen W. Gripp, Katherine M. Robbins, Nara L. Sobreira, P. Dane Witmer, Lynne M. Bird, Kristiina Avela, Outi Makitie, Daniela Alves, Jacob S. Hogue, Elaine H. Zackai, Kimberly F. Doheny, Deborah L. Stabley, Katia Sol-Church

Am J Med Genet A. Author manuscript; available in PMC 2017 Sep 7.

Published in final edited form as: Am J Med Genet A. 2015 Feb; 167A(2): 271–281. Published online 2014 Nov 13. doi: 10.1002/ajmg.a.36863

PMCID:: PMC5589071

Abstract Article PDF–719K

Select item 43202625.

Keppen-Lubinsky Syndrome Is Caused by Mutations in the Inwardly Rectifying K⁺ Channel Encoded by KCNJ6

Andrea Masotti, Paolo Uva, Laura Davis-Keppen, Lina Basel-Vanagaite, Lior Cohen, Elisa Pisaneschi, Antonella Celluzzi, Paola Bencivenga, Mingyan Fang, Mingyu Tian, Xun Xu, Marco Cappa, Bruno Dallapiccola

Am J Hum Genet. 2015 Feb 5; 96(2): 295–300. doi: 10.1016/j.ajhg.2014.12.011

PMCID:: PMC4320262

Abstract Article PDF–933K

Select item 29488006.

Mutations in SCARF2 Are Responsible for Van Den Ende-Gupta Syndrome

Natascia Anastasio, Tawfeg Ben-Omran, Ahmad Teebi, Kevin C.H. Ha, Emilie Lalonde, Rehab Ali, Mariam Almureikhi, Vazken M. Der Kaloustian, Junhui Liu, David S. Rosenblatt, Jacek Majewski, Loydie A. Jerome-Majewska

Am J Hum Genet. 2010 Oct 8; 87(4): 553–559. doi: 10.1016/j.ajhg.2010.09.005

PMCID:: PMC2948800

Abstract Article PDF–639K

Select item 10498037.

The clinical features of Ehlers-Danlos syndrome type VIIB resulting from a base substitution at the splice acceptor site of intron 5 of the COL1A2 gene.

A J Carr, A A Chiodo, J M Hilton, C W Chow, A Hockey, W G Cole

J Med Genet. 1994 Apr; 31(4): 306–311. doi: 10.1136/jmg.31.4.306

PMCID:: PMC1049803

Summary Page Browse PDF–2.3M

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