PMC Articles for MedGen (Select 477256) - PMC

Select item 101787941.

Mutation of FLNA attenuating the migration of abdominal muscles contributed to Melnick–Needles syndrome (MNS) in a family with recurrent miscarriage

Xin Luo, Zailin Yang, Jing Zeng, Jing Chen, Ningxuan Chen, Xiaoyan Jiang, Qinlv Wei, Ping Yi, Jing Xu

Mol Genet Genomic Med. 2023 May; 11(5): e2145. Published online 2023 Feb 3. doi: 10.1002/mgg3.2145

PMCID:: PMC10178794

Abstract Article PDF–6.4M

Select item 95599062.

Focal Dermal Hypoplasia with Osteopathia Striata

Shefa S. Almashaqbeh, Diana S. Aljammal, Hend M. Alharahsheh, Samer F. Alqudah, Rana A. Alkrimeen

Med Arch. 2022 Aug; 76(4): 301–304. doi: 10.5455/medarh.2022.76.301-304

PMCID:: PMC9559906

Abstract Article PDF–277K

Select item 79888373.

Congenital diaphragmatic hernia as a prominent feature of a SPECC1L-related syndrome

K. Taylor Wild, Tia Gordon, Elizabeth J. Bhoj, Haowei Du, Shalini N. Jhangiani, Jennifer E. Posey, James R. Lupski, Daryl A. Scott, Elaine H. Zackai

Am J Med Genet A. Author manuscript; available in PMC 2021 Dec 1.

Published in final edited form as: Am J Med Genet A. 2020 Dec; 182(12): 2919–2925. Published online 2020 Sep 21. doi: 10.1002/ajmg.a.61878

PMCID:: PMC7988837

Abstract Article PDF–647K

Select item 5346394.

Bigenic Cre/loxP, puΔtk conditional genetic ablation

You-Tzung Chen, Regis Levasseur, Sukeshi Vaishnav, Gerard Karsenty, Allan Bradley

Nucleic Acids Res. 2004; 32(20): e161. Published online 2004 Nov 23. doi: 10.1093/nar/gnh158

PMCID:: PMC534639

Abstract Article PDF–853K

Select item 105770835.

PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects

Florence Petit, Mauro Longoni, Julie Wells, Richard S. Maser, Eric L. Bogenschutz, Matthew J. Dysart, Hannah T.M. Contreras, Frederic Frénois, Barbara R. Pober, Robin D. Clark, Philip F. Giampietro, Hilger H. Ropers, Hao Hu, Maria Loscertales, Richard Wagner, Xingbin Ai, Harrison Brand, Anne-Sophie Jourdain, Marie-Ange Delrue, Brigitte Gilbert-Dussardier, Louise Devisme, Boris Keren, David J. McCulley, Lu Qiao, Rebecca Hernan, Julia Wynn, Tiana M. Scott, Daniel G. Calame, Zeynep Coban-Akdemir, Patricia Hernandez, Andres Hernandez-Garcia, Hagith Yonath, James R. Lupski, Yufeng Shen, Wendy K. Chung, Daryl A. Scott, Carol J. Bult, Patricia K. Donahoe, Frances A. High

Am J Hum Genet. 2023 Oct 5; 110(10): 1787–1803. Published online 2023 Sep 25. doi: 10.1016/j.ajhg.2023.09.002

PMCID:: PMC10577083

Abstract Article PDF–4.4M

Select item 98801646.

Phenotypic and genetic characteristics of 130 patients with mucopolysaccharidosis type II: A single-center retrospective study in China

Zhenjie Zhang, Mingsheng Ma, Weimin Zhang, Yu Zhou, Fengxia Yao, Lisi Zhu, Min Wei, Zhengqing Qiu

Front Genet. 2023; 14: 1103620. Published online 2023 Jan 13. doi: 10.3389/fgene.2023.1103620

PMCID:: PMC9880164

Abstract Article PDF–1.0M

Select item 98452547.

Case report: Craniofrontonasal syndrome caused by a novel variant in the EFNB1 gene in a Colombian woman

Harry Pachajoa, Diana Marcela Vasquez-Forero, Sebastian Giraldo-Ocampo

Front Genet. 2022; 13: 1092301. Published online 2023 Jan 4. doi: 10.3389/fgene.2022.1092301

PMCID:: PMC9845254

Abstract Article PDF–1.4M

Select item 65948988.

Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes

Elizabeth J. Bhoj, Damien Haye, Annick Toutain, Dominique Bonneau, Irene Kibæk Nielsen, Ida Bay Lund, Pauline Bogaard, Stine Leenskjold, Kadri Karaer, Katherine T Wild, Katheryn L Grand, Mirena C. Astiazaran, Luis A. Gonzalez-Nieto, Ana Carvalho, Daphné Lehalle, Shivarajan M Amudhavalli, Elena Repnikova, Carol Saunders, Isabelle Thiffault, Irfan Saadi, Dong Li, Hakon Hakonarson, Yoann Vial, Elaine Zackai, Patrick Callier, Séverine Drunat, Alain Verloes

Eur J Med Genet. Author manuscript; available in PMC 2020 Dec 1.

Published in final edited form as: Eur J Med Genet. 2019 Dec; 62(12): 103588. Published online 2018 Nov 22. doi: 10.1016/j.ejmg.2018.11.022

PMCID:: PMC6594898

Abstract Article PDF–506K

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