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Select item 107676821.

Prenatal diagnosis of developmental and epileptic encephalopathy 9 with a 10.05‐Mb microdeletion at Xq21.31q22.1 inherited from mother: A case report and literature review

Juan Zhu, Zhenzhen Liu, Feng Geng, Jing Peng, Zhimin Li, Qin Yang

Mol Genet Genomic Med. 2024 Jan; 12(1): e2338. Published online 2023 Dec 11. doi: 10.1002/mgg3.2338

PMCID:: PMC10767682

Article PDF–1.8M

Select item 105188592.

A New de novo Mosaic Mutation of PHEX Gene: A Case Report of a Boy with Hypophosphatemic Rickets

Alessandra Terracciano, Margherita Lucia De Bernardi, Roberto Novizio, Davide De Brasi, Achille Iolascon, Matteo Della Monica, Francesco Scavuzzo, Domenico Serino, Antonio Novelli, Carmelo Piscopo

Endocr Metab Immune Disord Drug Targets. 2023 Jul 19; 23(9): 1235–1239. Published online 2023 Jul 19. doi: 10.2174/1871530323666230227142202

PMCID:: PMC10518859

Article PDF–2.5M

Select item 104548233.

Danon Disease: Entire LAMP2 Gene Deletion with Unusual Clinical Presentation—Case Report and Review of the Literature

Adel Shalata, Marina Bar-Shai, Yarin Hadid, Muhammad Mahroum, Hila Mintz, Zaher Eldin Shalata, Evgeny Radzishevsky, Jacob Genizi, Avraham Lorber, Tamar Ben-Yosef, Liat Yaniv

Genes (Basel) 2023 Aug; 14(8): 1539. Published online 2023 Jul 27. doi: 10.3390/genes14081539

PMCID:: PMC10454823

Article PDF–3.0M

Select item 104246574.

A comprehensive study of skeletal muscle imaging in FHL1‐related reducing body myopathy

Payam Mohassel, Pomi Yun, Safoora Syeda, Abhinandan Batra, Andrew J. Bradley, Sandra Donkervoort, Soledad Monges, Julie S. Cohen, Doris G. Leung, Francina Munell, Carlos Ortez, Angel Sánchez‐Montáñez, Peter Karachunski, John Brandsema, Livija Medne, Vinay Chaudhry, Giorgio Tasca, A. Reghan Foley, Bjarne Udd, Andrew E. Arai, Glenn A. Walter, Carsten G. Bönnemann

Ann Clin Transl Neurol. 2023 Aug; 10(8): 1442–1455. Published online 2023 Jul 22. doi: 10.1002/acn3.51834

PMCID:: PMC10424657

Article PDF–8.6M

Select item 104227265.

Clinical manifestations and MRI features of Danon disease: a case series

Yang Zhang, Ren Zhao, Yushan Yuan, Yongqiang Yu, Bin Liu, Xiaohu Li

BMC Cardiovasc Disord. 2023; 23: 397. Published online 2023 Aug 11. doi: 10.1186/s12872-023-03356-y

PMCID:: PMC10422726

Article PDF–1.3M

Select item 103695886.

Expanding the phenotype of males with OFD1 pathogenic variants-a case report and literature review

Balram Gangaram, W. Patrick Devine, Anne Slavotinek

Eur J Med Genet. Author manuscript; available in PMC 2023 Jul 26.

Published in final edited form as: Eur J Med Genet. 2022 Jun; 65(6): 104496. Published online 2022 Apr 6. doi: 10.1016/j.ejmg.2022.104496

PMCID:: PMC10369588

Article PDF–1.1M

Select item 103293747.

Phenotypic variability to medication management: an update on fragile X syndrome

Nasser A. Elhawary, Imad A. AlJahdali, Iman S. Abumansour, Zohor A. Azher, Alaa H. Falemban, Wefaq M. Madani, Wafaa Alosaimi, Ghydda Alghamdi, Ikhlas A. Sindi

Hum Genomics. 2023; 17: 60. Published online 2023 Jul 7. doi: 10.1186/s40246-023-00507-2

PMCID:: PMC10329374

Article PDF–1.4M

Select item 102383968.

The causal mutation in ARR3 gene for high myopia and progressive color vision defect

Lei Gu, Peikuan Cong, Qingyao Ning, Bo Jiang, Jianyong Wang, Hongguang Cui

Sci Rep. 2023; 13: 8986. Published online 2023 Jun 2. doi: 10.1038/s41598-023-36141-0

PMCID:: PMC10238396

Article PDF–1.6M

Select item 100527789.

Bain type of X-linked Syndromic Mental Retardation in a Male with a Pathogenic Variant in HNRNPH2

Puneeth H Somashekar, Dhanya Lakshmi Narayanan, Sujatha Jagadeesh, Beena Suresh, Reddy D Vaishnavi, Stephanie Bielas, Katta M Girisha, Anju Shukla

Am J Med Genet A. Author manuscript; available in PMC 2023 Mar 29.

Published in final edited form as: Am J Med Genet A. 2020 Jan; 182(1): 183–188. Published online 2019 Oct 31. doi: 10.1002/ajmg.a.61388

PMCID:: PMC10052778

Article PDF–228K

Select item 1000990910.

Etiological identification of recurrent male fatality due to a novel NSDHL gene mutation using trio whole‐exome sequencing: A rare case report and literature review

Jianlong Zhuang, Qi Luo, Meihua Xie, Yu’e Chen, Yuying Jiang, Shuhong Zeng, Yuanbai Wang, Yingjun Xie, Chunnuan Chen

Mol Genet Genomic Med. 2023 Mar; 11(3): e2121. Published online 2022 Dec 11. doi: 10.1002/mgg3.2121

PMCID:: PMC10009909

Article PDF–1.0M

Select item 995727711.

Autistic Behavior as Novel Clinical Finding in OFD1 Syndrome

Sorina Mihaela Papuc, Alina Erbescu, Adelina Glangher, Ioana Streata, Anca-Lelia Riza, Magdalena Budisteanu, Aurora Arghir

Genes (Basel) 2023 Feb; 14(2): 327. Published online 2023 Jan 27. doi: 10.3390/genes14020327

PMCID:: PMC9957277

Article PDF–567K

Select item 993875112.

Nance–Horan syndrome pedigree due to a novel microdeletion and skewed X chromosome inactivation

Yazhou Huang, Linya Ma, Zhaoxia Zhang, Shujuan Nie, Yuan Zhou, Jibo Zhang, Chao Wang, Xingxin Fang, Yingting Quan, Ting He, Anhui Liu, Dan Peng

Mol Genet Genomic Med. 2023 Feb; 11(2): e2100. Published online 2022 Nov 12. doi: 10.1002/mgg3.2100

PMCID:: PMC9938751

Article PDF–4.0M

Select item 985915613.

The Variant p.Ala84Pro Is Causative of X-Linked Hypophosphatemic Rickets: Possible Relationship with Burosumab Swinging Response in Adults

Maria Carmela Zagari, Paola Chiarello, Stefano Iuliano, Lucia D’Antona, Valentina Rocca, Emma Colao, Nicola Perrotti, Francesca Greco, Rodolfo Iuliano, Antonio Aversa

Genes (Basel) 2023 Jan; 14(1): 80. Published online 2022 Dec 27. doi: 10.3390/genes14010080

PMCID:: PMC9859156

Article PDF–1.8M

Select item 982296114.

A rare genotype of biallelic mosaic variants in BCOR gene causing a bilateral ocular anterior segment dysgenesis and cataracts

Daphna Mezad-Koursh, Eldar Rosenfeld, Anat Bachar Zipori, Dinah Zur, Emil Elhanan, Shay Ben-Shachar

Eur J Hum Genet. 2023 Jan; 31(1): 125–127. Published online 2022 Oct 20. doi: 10.1038/s41431-022-01195-7

PMCID:: PMC9822961

Article PDF–534K

Select item 974825315.

TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions

Hadia Hijazi, Linda M. Reis, Davut Pehlivan, Jonathan A. Bernstein, Michael Muriello, Erin Syverson, Devon Bonner, Mehrdad A. Estiar, Ziv Gan-Or, Guy A. Rouleau, Ekaterina Lyulcheva, Lynn Greenhalgh, Marine Tessarech, Estelle Colin, Agnès Guichet, Dominique Bonneau, R.H. van Jaarsveld, A.M.A. Lachmeijer, Lyse Ruaud, Jonathan Levy, Anne-Claude Tabet, Rafal Ploski, Małgorzata Rydzanicz, Łukasz Kępczyński, Katarzyna Połatyńska, Yidan Li, Jawid M. Fatih, Dana Marafi, Jill A. Rosenfeld, Zeynep Coban-Akdemir, Weimin Bi, Richard A. Gibbs, Grace M. Hobson, Jill V. Hunter, Claudia M.B. Carvalho, Jennifer E. Posey, Elena V. Semina, James R. Lupski

Am J Hum Genet. 2022 Dec 1; 109(12): 2270–2282. Published online 2022 Nov 10. doi: 10.1016/j.ajhg.2022.10.007