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Items: 1 to 20 of 130

1.
De novo KAT6B mutation causes Say–Barber–Biesecker–Young–Simpson variant of Ohdo syndrome in an Iranian boy: a case report
Behzad Davarnia, Mohammad Panahi, Bahareh Rahimi, Hassan Anari, Reza Farajollahi, Ehsan Abbaspour Rodbaneh, Farhad Jeddi
J Med Case Rep. 2024; 18: 4. Published online 2024 Jan 5. doi: 10.1186/s13256-023-04237-w
PMCID:
PMC10768154
ArticlePDF–1.3M
2.
RETRACTED ARTICLE: Clinical characterization of familial 1p36.3 microduplication
Junping Jiao, Yuping Wang, Yue Hou, Chao Gao, Huimin Shi, Shujuan Tian
Neurogenetics. 2023; 24(3): 201–208. Published online 2023 Jun 8. doi: 10.1007/s10048-023-00722-y
Retraction in:
Neurogenetics. 2024; 25(1): 49.
PMCID:
PMC10319691
Article
3.
Ranbp1 modulates morphogenesis of the craniofacial midline in mouse models of 22q11.2 deletion syndrome
Elizabeth M Paronett, Corey A Bryan, Megan E Maynard, Julia A Goroff, Daniel W Meechan, Anthony-Samuel LaMantia, Thomas M Maynard
Hum Mol Genet. 2023 Jun 15; 32(12): 1959–1974. Published online 2023 Feb 15. doi: 10.1093/hmg/ddad030
PMCID:
PMC10244217
ArticlePDF–2.6M
4.
Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller–Dieker syndrome
Elizabeth K. Baker, Casey J. Brewer, Leonardo Ferreira, Mark Schapiro, Jeffrey Tenney, Heather M. Wied, Beth M. Kline‐Fath, Teresa A. Smolarek, K. Nicole Weaver, Robert J. Hopkin
Am J Med Genet A. 2023 Feb; 191(2): 526–539. Published online 2022 Nov 25. doi: 10.1002/ajmg.a.63057
PMCID:
PMC10099970
ArticlePDF–2.4M
5.
Genetic and clinical characteristics of 24 mainland Chinese patients with CTNNB1 loss‐of‐function variants
Dan Yan, Yu Sun, Na Xu, Yongguo Yu, Yongkun Zhan, the Mainland Chinese League of NEDSDV Rare Disease
Mol Genet Genomic Med. 2022 Nov; 10(11): e2067. Published online 2022 Sep 24. doi: 10.1002/mgg3.2067
PMCID:
PMC9651608
ArticlePDF–1.8M
6.
KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients
Lily Guo, Jiyeon Park, Edward Yi, Elaine Marchi, Tzung-Chien Hsieh, Yana Kibalnyk, Yolanda Moreno-Sáez, Saskia Biskup, Oliver Puk, Carmela Beger, Quan Li, Kai Wang, Anastassia Voronova, Peter M. Krawitz, Gholson J. Lyon
Eur J Hum Genet. 2022 Nov; 30(11): 1244–1254. Published online 2022 Aug 15. doi: 10.1038/s41431-022-01171-1
PMCID:
PMC9626563
ArticlePDF–1.4M
7.
Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature
Francesca Di Candia, Paolo Fontana, Pamela Paglia, Mariateresa Falco, Carmen Rosano, Carmelo Piscopo, Gerarda Cappuccio, Maria Anna Siano, Daniele De Brasi, Claudia Mandato, Ilaria De Maggio, Gabriella Maria Squeo, Matteo Della Monica, Gioacchino Scarano, Fortunato Lonardo, Pietro Strisciuglio, Giuseppe Merla, Daniela Melis
Eur J Pediatr. 2022; 181(1): 171–187. Published online 2021 Jul 7. doi: 10.1007/s00431-021-04108-w
PMCID:
PMC8760211
ArticlePDF–3.5M
8.
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
ArticlePDF–647K
9.
6q25.1-q25.3 Microdeletion in a Chinese Girl
Mian-Ling Zhong, Ye-Mei Song, Chao-Chun Zou
J Clin Res Pediatr Endocrinol. 2021 Mar; 13(1): 109–113. Published online 2021 Feb 26. doi: 10.4274/jcrpe.galenos.2020.2020.0008
PMCID:
PMC7947727
ArticlePDF–929K
10.
Four mutations in MITF, SOX10 and PAX3 genes were identified as genetic causes of waardenburg syndrome in four unrelated Iranian patients: case report
Safoura Zardadi, Sima Rayat, Maryam Hassani Doabsari, Aliagha Alishiri, Mohammad Keramatipour, Zeynab Javanfekr Shahri, Saeid Morovvati
BMC Pediatr. 2021; 21: 70. Published online 2021 Feb 8. doi: 10.1186/s12887-021-02521-6
PMCID:
PMC7869501
ArticlePDF–1.3M
11.
A novel mutation in RAB3GAP1 gene in Chinese patient causing the Warburg micro syndrome: A case report
Dan Zhou, Qiu Wang, Hanmin Liu
Medicine (Baltimore) 2021 Jan 15; 100(2): e22902. Published online 2021 Jan 15. doi: 10.1097/MD.0000000000022902
PMCID:
PMC7808449
ArticlePDF–941K
12.
Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome)
Nurit Assia Batzir, Jennifer E. Posey, Xiaofei Song, Zeynep Coban Akdemir, Jill A. Rosenfeld, Chester W. Brown, Emily X. Chen, Shannon Holtrop, Elizabeth Mizerik, Margarita Nieto Moreno, Katelyn Payne, Annick Raas-Rothschild, Richard Scott, Hilary J. Vernon, Neda Zadeh, Baylor-Hopkins Center for Mendelian Genomics, James R. Lupski, V. Reid Sutton
Am J Med Genet A. Author manuscript; available in PMC 2020 Dec 3.
Published in final edited form as: Am J Med Genet A. 2020 Jan; 182(1): 38–52. Published online 2019 Nov 29. doi: 10.1002/ajmg.a.61380
PMCID:
PMC7713511
ArticlePDF–754K
13.
一例13号环状染色体综合征患儿的临床及遗传学分析
范 美荣, 王 贵杰, 于 辛酉
Zhongguo Dang Dai Er Ke Za Zhi. 2018 Jun 25; 20(6): 485–489. Chinese. doi: 10.7499/j.issn.1008-8830.2018.06.011
PMCID:
PMC7389945
ArticlePDF–1.6M
14.
1例Rubinstein-Taybi综合征的临床及CREBBP基因新突变分析
李 媛, 何 山, 朱 鸿玲
Zhongguo Dang Dai Er Ke Za Zhi. 2017 Nov 25; 19(11): 1155–1158. Chinese. doi: 10.7499/j.issn.1008-8830.2017.11.006
PMCID:
PMC7389331
ArticlePDF–1018K
15.
MED13L综合征患者的临床表型及遗传学分析
孟 庆杰, 何 学莲, 肖 晗, 夏 倩, 毕 博, 向 赟
Zhongguo Dang Dai Er Ke Za Zhi. 2017 Oct 25; 19(10): 1083–1086. Chinese. doi: 10.7499/j.issn.1008-8830.2017.10.010
PMCID:
PMC7389282
ArticlePDF–1.4M
16.
Pitt-Hopkins Syndrome: Clinical and Molecular Findings of a 5-Year-Old Patient
Florin Tripon, Alina Bogliș, Cristian Micheu, Ioana Streață, Claudia Bănescu
Genes (Basel) 2020 Jun; 11(6): 596. Published online 2020 May 28. doi: 10.3390/genes11060596
PMCID:
PMC7349262
ArticlePDF–1.4M
17.
Three‐dimensional facial morphology in Cantú syndrome
Helen I. Roessler, Kathleen Shields, Dorothy K. Grange, Nine V.A.M. Knoers, Gijs van Haaften, Peter Hammond, Mieke M. van Haelst
Am J Med Genet A. 2020 May; 182(5): 1041–1052. Published online 2020 Feb 26. doi: 10.1002/ajmg.a.61517
PMCID:
PMC7217184
ArticlePDF–2.4M
18.
Podocytic infolding in Schimke immuno-osseous dysplasia with novel SMARCAL1 mutations: a case report
Shiqiu Xiong, Lanjun Shuai, Xiaoyan Li, Xiqiang Dang, Xiaochuan Wu, Qingnan He
BMC Nephrol. 2020; 21: 170. Published online 2020 May 11. doi: 10.1186/s12882-020-01809-6
PMCID:
PMC7216528
ArticlePDF–1.0M
19.
Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities
Alison M. Muir, Jennifer L. Cohen, Sarah E. Sheppard, Pavithran Guttipatti, Tsz Y. Lo, Natalie Weed, Dan Doherty, Danielle DeMarzo, Christina R. Fagerberg, Lars Kjærsgaard, Martin J. Larsen, Patrick Rump, Katharina Löhner, Yoel Hirsch, David A. Zeevi, Elaine H. Zackai, Elizabeth Bhoj, Yuanquan Song, Heather C. Mefford
Am J Hum Genet. 2020 May 7; 106(5): 623–631. Published online 2020 Apr 9. doi: 10.1016/j.ajhg.2020.03.009
PMCID:
PMC7212259
ArticlePDF–1.2M
20.
Case report of 49,XXXXY syndrome with cleft palate, diabetes, hypothyroidism, and cataracts
Limin Wei, Yi Liu, Sufen Sun, Yong Tang, Shuchun Chen, Guangyao Song
Medicine (Baltimore) 2019 Sep; 98(39): e17342. Published online 2019 Sep 27. doi: 10.1097/MD.0000000000017342
PMCID:
PMC6775424
ArticlePDF–252K

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