PMC Articles for MedGen (Select 373112) - PMC

Gregorio Serra, Vincenzo Antona, Maria Rita Di Pace, Mario Giuffrè, Giusy Morgante, Ettore Piro, Roberto Pirrello, Sergio Salerno, Ingrid Anne Mandy Schierz, Vincenzo Verde, Giovanni Corsello

Ital J Pediatr. 2022; 48: 206. Published online 2022 Dec 29. doi: 10.1186/s13052-022-01403-6

PMCID:: PMC9801547

Article PDF–1.2M

Select item 94458624.

Simultaneous 9p Deletion and 8p Duplication in a Seven-Year-Old Girl, Detected Using Multiplex Ligation-Dependent Probe Amplification: A Case Report

Mozhgan Saberi, Frouzandehi Mahjoub

Iran J Med Sci. 2022 Sep; 47(5): 494–499. doi: 10.30476/IJMS.2021.89353.2039

PMCID:: PMC9445862

Article PDF–2.2M

Select item 93224295.

Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome

Gerarda Cappuccio, Simona Brillante, Roberta Tammaro, Michele Pinelli, Margherita Lucia De Bernardi, Maria Grazia Gensini, Emilia K. Bijlsma, Tamara T. Koopmann, Mariette J. V. Hoffer, Kimberly McDonald, Laura G. Hendon, Sofia Douzgou, Charulata Deshpande, Stefano D'Arrigo, Annalaura Torella, Vincenzo Nigro, Brunella Franco, Nicola Brunetti‐Pierri

Am J Med Genet C Semin Med Genet. 2022 Mar; 190(1): 102–108. Published online 2022 Apr 30. doi: 10.1002/ajmg.c.31973

PMCID:: PMC9322429

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Select item 93060616.

Kagami–Ogata syndrome: a case report

Tharindi Suriapperuma, Shobhavi Randeny, Sachith Mettananda

J Med Case Rep. 2022; 16: 284. Published online 2022 Jul 22. doi: 10.1186/s13256-022-03512-6

PMCID:: PMC9306061

Article PDF–927K

Select item 92455477.

Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome

Dong Li, Michael E. March, Paola Fortugno, Liza L. Cox, Leticia S. Matsuoka, Rosanna Monetta, Christoph Seiler, Louise C. Pyle, Emma C. Bedoukian, María José Sánchez-Soler, Oana Caluseriu, Katheryn Grand, Allison Tam, Alicia R. P. Aycinena, Letizia Camerota, Yiran Guo, Patrick Sleiman, Bert Callewaert, Candy Kumps, Annelies Dheedene, Michael Buckley, Edwin P. Kirk, Anne Turner, Benjamin Kamien, Chirag Patel, Meredith Wilson, Tony Roscioli, John Christodoulou, Timothy C. Cox, Elaine H. Zackai, Francesco Brancati, Hakon Hakonarson, Elizabeth J. Bhoj

Hum Genet. Author manuscript; available in PMC 2022 Jun 30.

Published in final edited form as: Hum Genet. 2021 Jul; 140(7): 1061–1076. Published online 2021 Apr 3. doi: 10.1007/s00439-021-02274-3

PMCID:: PMC9245547

Article PDF–2.9M

Select item 91406118.

Two Novel Variants of WDR26 in Chinese Patients with Intellectual Disability

Jiacheng Hu, Mingming Xu, Xiaobo Zhu, Yu Zhang

Genes (Basel) 2022 May; 13(5): 813. Published online 2022 May 2. doi: 10.3390/genes13050813

PMCID:: PMC9140611

Article PDF–1.4M

Select item 89439379.

Neuroimaging appearance of hypothalamic hamartomas in monozygotic twins with Pallister-Hall syndrome: case report and review of the literature

Alessandra Consales, Giulia Ardemani, Claudia Maria Cinnante, Mariana Rita Catalano, Claudia Giavoli, Roberta Villa, Maria Iascone, Camilla Fontana, Maria Francesca Bedeschi, Monica Fumagalli

BMC Neurol. 2022; 22: 118. Published online 2022 Mar 24. doi: 10.1186/s12883-022-02618-0

PMCID:: PMC8943937

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Select item 860619910.

Identification of novel ACAN mutations in two Chinese families and genotype–phenotype correlation in patients with 74 pathogenic ACAN variations

Ming Wei, Yanqin Ying, Zhuxi Li, Ying Weng, Xiaoping Luo

Mol Genet Genomic Med. 2021 Nov; 9(11): e1823. Published online 2021 Oct 3. doi: 10.1002/mgg3.1823

PMCID:: PMC8606199

Article PDF–1.0M

Select item 850066211.

Novel WTX nonsense mutation in a family diagnosed with osteopathia striata with cranial sclerosis: Case report

Changhoon Jeong, Myungshin Kim, Jisook Yim, Il-Jung Park, Jiwon Lee, Jaeyoung Lee

Medicine (Baltimore) 2021 Oct 8; 100(40): e27346. Published online 2021 Oct 8. doi: 10.1097/MD.0000000000027346

PMCID:: PMC8500662

Article PDF–329K

Select item 848016112.

CHD3基因突变致Snijders Blok-Campeau综合征1例报告

樊曦涌

Zhongguo Dang Dai Er Ke Za Zhi. 2021 Sep 15; 23(9): 965–968. Chinese. doi: 10.7499/j.issn.1008-8830.2106091

PMCID:: PMC8480161

Article PDF–757K

Select item 793839513.

Mosaic trisomy 22 in a 4‐year‐old boy with congenital heart disease and general hypotrophy: A case report

Samira Kalayinia, Tina Shahani, Alireza Biglari, Majid Maleki, Hassan Rokni‐Zadeh, Zahra Razavi, Nejat Mahdieh

J Clin Lab Anal. 2019 Feb; 33(2): e22663. Published online 2018 Sep 26. doi: 10.1002/jcla.22663

PMCID:: PMC7938395

Article PDF–525K

Select item 793310614.

Chromosome 4q28.3q32.3 duplication in a patient with lymphatic malformations, craniosynostosis, and dysmorphic features

Eric S. Traub, Sarah E. Sheppard, Yoav Dori, Katelyn D. Burns, Elaine H. Zackai, Stephanie M. Ware, Benjamin J. Landis, Dong Li, David D. Weaver

Clin Dysmorphol. Author manuscript; available in PMC 2022 Apr 1.

Published in final edited form as: Clin Dysmorphol. 2021 Apr 1; 30(2): 89–92. doi: 10.1097/MCD.0000000000000347

PMCID:: PMC7933106

Article PDF–476K

Select item 779332415.

Prenatal detection of distal 1q21.1q21.2 microduplication with abnormal ultrasound findings: Two cases report and literature review

Hongguo Zhang, Fagui Yue, Xinyue Zhang, Jing He, Yuting Jiang, Ruizhi Liu, Yang Yu

Medicine (Baltimore) 2021 Jan 8; 100(1): e24227. Published online 2021 Jan 8. doi: 10.1097/MD.0000000000024227

PMCID:: PMC7793324

Article PDF–326K

Select item 771351116.

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