PMC Articles for MedGen (Select 866906) - PMC

Select item 99826671.

Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis

Felix Boschann, Muhsin Ö. Cogulu, Davut Pehlivan, Saranya Balachandran, Pedro Vallecillo-Garcia, Christopher M. Grochowski, Nils R. Hansmeier, Zeynep H. Coban Akdemir, Cesar A. Prada-Medina, Ayca Aykut, Björn Fischer-Zirnsak, Simon Badura, Burak Durmaz, Ferda Ozkinay, René Hägerling, Jennifer E. Posey, Sigmar Stricker, Gabriele Gillessen-Kaesbach, Malte Spielmann, Denise Horn, Knut Brockmann, James R. Lupski, Uwe Kornak, Julia Schmidt

Genet Med. Author manuscript; available in PMC 2023 Oct 1.

Published in final edited form as: Genet Med. 2022 Oct; 24(10): 2187–2193. Published online 2022 Aug 13. doi: 10.1016/j.gim.2022.07.012

Correction in:: Genet Med. 2023 Feb 28 : 100799.

PMCID:: PMC9982667

Abstract Article PDF–435K

Select item 94119152.

Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)

Mari Minatogawa, Ai Unzaki, Hiroko Morisaki, Delfien Syx, Tohru Sonoda, Andreas R Janecke, Anne Slavotinek, Nicol C Voermans, Yves Lacassie, Roberto Mendoza-Londono, Klaas J Wierenga, Parul Jayakar, William A Gahl, Cynthia J Tifft, Luis E Figuera, Yvonne Hilhorst-Hofstee, Alessandra Maugeri, Ken Ishikawa, Tomoko Kobayashi, Yoko Aoki, Toshihiro Ohura, Hiroshi Kawame, Michihiro Kono, Kosuke Mochida, Chiho Tokorodani, Kiyoshi Kikkawa, Takayuki Morisaki, Tetsuyuki Kobayashi, Takaya Nakane, Akiharu Kubo, Judith D Ranells, Ohsuke Migita, Glenda Sobey, Anupriya Kaur, Masumi Ishikawa, Tomomi Yamaguchi, Naomichi Matsumoto, Fransiska Malfait, Noriko Miyake, Tomoki Kosho

J Med Genet. 2022 Sep; 59(9): 865–877. Published online 2021 Nov 23. doi: 10.1136/jmedgenet-2020-107623

PMCID:: PMC9411915

Abstract Article PDF–3.0M

Select item 82228283.

A novel and recurrent KLHL40 pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8

Sheng Yi, Yue Zhang, Zailong Qin, Shang Yi, Haiyang Zheng, Jingsi Luo, Qifei Li, Jin Wang, Qi Yang, Mengting Li, Fei Chen, Qiang Zhang, Qinle Zhang, Yiping Shen

Mol Genet Genomic Med. 2021 Jun; 9(6): e1683. Published online 2021 May 12. doi: 10.1002/mgg3.1683

PMCID:: PMC8222828

Abstract Article PDF–663K

Select item 81837504.

Admixed phenotype of NEDD4L associated periventricular nodular heterotopia: A case report

Martina Pecimonova, Jan Radvanszky, David Smolak, Jaroslav Budis, Michal Lichvar, Diana Kristinova, Ivica Rozova, Jan Turna, Tomas Szemes

Medicine (Baltimore) 2021 Jun 4; 100(22): e26136. Published online 2021 Jun 4. doi: 10.1097/MD.0000000000026136

PMCID:: PMC8183750

Abstract Article PDF–783K

Select item 73899425.

幼儿精神运动发育落后伴中性粒细胞减少1年余

张凡, 石秀玉, 刘丽英, 刘雨田, 邹丽萍

Zhongguo Dang Dai Er Ke Za Zhi. 2018 Jun 25; 20(6): 497–500. Chinese. doi: 10.7499/j.issn.1008-8830.2018.06.013

PMCID:: PMC7389942

Abstract Article PDF–1.4M

Select item 70550546.

4q27 deletion and 7q36.1 microduplication in a patient with multiple malformations and hearing loss: a case report

Maolan Wu, Xiangrong Zheng, Xia Wang, Guoyuan Zhang, Jian Kuang

BMC Med Genomics. 2020; 13: 31. Published online 2020 Mar 3. doi: 10.1186/s12920-020-0697-y

PMCID:: PMC7055054

Abstract Article PDF–1.0M

Select item 61805137.

Description of the molecular and phenotypic spectrum of Wiedemann-Steiner syndrome in Chinese patients

Niu Li, Yirou Wang, Yu Yang, Pengpeng Wang, Hui Huang, Shiyi Xiong, Luming Sun, Min Cheng, Cui Song, Xinran Cheng, Yu Ding, Guoying Chang, Yao Chen, Yufei Xu, Tingting Yu, Ru-en Yao, Yiping Shen, Xiumin Wang, Jian Wang

Orphanet J Rare Dis. 2018; 13: 178. Published online 2018 Oct 11. doi: 10.1186/s13023-018-0909-0

PMCID:: PMC6180513

Abstract Article PDF–4.8M

Select item 57081478.

Contiguous Gene Deletion of Chromosome 2p16.3-p21 as a Cause of Lynch Syndrome

Erin E. Salo-Mullen, Patricio B. Lynn, Lu Wang, Michael Walsh, Anuradha Gopalan, Jinru Shia, Christina Tran, Fung Ying Man, Sean McBride, Mark Schattner, Liying Zhang, Martin R. Weiser, Zsofia K. Stadler

Fam Cancer. Author manuscript; available in PMC 2019 Jan 1.

Published in final edited form as: Fam Cancer. 2018 Jan; 17(1): 71–77. doi: 10.1007/s10689-017-0006-x

PMCID:: PMC5708147

Abstract Article PDF–819K

Select item 51110059.

KBG syndrome involving a single-nucleotide duplication in ANKRD11

Robert Kleyner, Janet Malcolmson, David Tegay, Kenneth Ward, Annette Maughan, Glenn Maughan, Lesa Nelson, Kai Wang, Reid Robison, Gholson J. Lyon

Cold Spring Harb Mol Case Stud. 2016 Nov; 2(6): a001131. doi: 10.1101/mcs.a001131

PMCID:: PMC5111005

Abstract Article PDF–2.0M

Select item 503073710.

The status of dermatoglyphics as a biomarker of Tel Hashomer camptodactyly syndrome: a review of the literature

Buddhika T. B. Wijerathne, Robert J. Meier, Suneth B. Agampodi

J Med Case Rep. 2016; 10: 258. Published online 2016 Sep 20. doi: 10.1186/s13256-016-1048-7

PMCID:: PMC5030737

Abstract Article PDF–543K

Select item 310951011.

Distinctive Phenotype in 9 Patients with Deletion of Chromosome 1q24-q25

Deepika D’Cunha Burkardt, Jill A. Rosenfeld, Maria Helgeson, Brad Angle, Valerie Banks, Wendy Smith, Karen W. Gripp, Jessica Moline, Rocio Moran, Dmitriy M. Niyazov, Cathy Stevens, Elaine Zackai, Robert Roger Lebel, Douglas Ashley, Nancy Kramer, Ralph S. Lachman, John M. Graham, Jr.

Am J Med Genet A. Author manuscript; available in PMC 2012 Jun 1.

Published in final edited form as: Am J Med Genet A. 2011 Jun; 155(6): 1336–1351. Published online 2011 May 5. doi: 10.1002/ajmg.a.34049