PMC Articles for MedGen (Select 336538) - PMC - NCBI

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Items: 13

Select item 59831721.

A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge–Ropers syndrome

Daniel C. Koboldt, Theresa Mihalic Mosher, Benjamin J. Kelly, Emily Sites, Dennis Bartholomew, Scott E. Hickey, Kim McBride, Richard K. Wilson, Peter White

Cold Spring Harb Mol Case Stud. 2018 Jun; 4(3): a002410. doi: 10.1101/mcs.a002410

PMCID:: PMC5983172

Abstract Article PDF–1.1M

Select item 10488222.

De novo interstitial deletion in the long arm of chromosome 9: a new chromosome syndrome.

K L Ying, C J Curry, K B Rajani, S H Kassel, R S Sparkes

J Med Genet. 1982 Feb; 19(1): 68–70. doi: 10.1136/jmg.19.1.68

PMCID:: PMC1048822

Summary Page Browse PDF–711K

Select item 107665903.

Resection of a pure androgen secreting adrenal adenoma in a postmenopausal woman: a case report

Ahmad Dalal, Abdallah Dwayat, Natalie Khamashta, Mo’men Alashwas, Tariq Asi

J Surg Case Rep. 2024 Jan; 2024(1): rjad693. Published online 2024 Jan 4. doi: 10.1093/jscr/rjad693

PMCID:: PMC10766590

Abstract Article PDF–215K

Select item 92722174.

A novel UBE2A splice site variant causing intellectual disability type Nascimento

Shuyuan Yan, Yanling Wang, Ying Chen, Hongxia Yuan, Xiaoni Kuang, Da Hou, Xueyi Li, Linglin Pan, Guangwen Huang, Jun He, Tuanmei Wang, Xiangwen Peng

Clin Case Rep. 2022 Jul; 10(7): e5990. Published online 2022 Jul 11. doi: 10.1002/ccr3.5990

PMCID:: PMC9272217

Abstract Article PDF–2.2M

Select item 82421865.

Sensorineural Hearing Loss and Mitochondrial Apoptosis of Cochlear Spiral Ganglion Neurons in Fibroblast Growth Factor 13 Knockout Mice

Yulou Yu, Jing Yang, Feng Luan, Guoqiang Gu, Ran Zhao, Qiong Wang, Zishan Dong, Junming Tang, Wei Wang, Jinpeng Sun, Ping Lv, Hailin Zhang, Chuan Wang

Front Cell Neurosci. 2021; 15: 658586. Published online 2021 Jun 16. doi: 10.3389/fncel.2021.658586

PMCID:: PMC8242186

Abstract Article PDF–8.9M

Select item 79836146.

Wiedemann-Steiner Syndrome as a Differential Diagnosis of Cornelia de Lange Syndrome Using Targeted Next-Generation Sequencing: A Case Report

Selma Demir, Hakan Gürkan, Veysel Öz, Sinem Yalçıntepe, Emine İ. Atlı, Engin Atlı

Mol Syndromol. 2021 Mar; 12(1): 46–51. Published online 2020 Dec 1. doi: 10.1159/000511971

PMCID:: PMC7983614

Abstract Article PDF–402K

Select item 71716617.

A 16-Day-Old Infant with a Clinical Diagnosis of Classical Cornelia de Lange Syndrome

Pamela Rodríguez, Karla Asturias

Case Rep Pediatr. 2020; 2020: 6482938. Published online 2020 Apr 8. doi: 10.1155/2020/6482938

PMCID:: PMC7171661

Abstract Article PDF–1.6M

Select item 69364148.

Severe hyperandrogenism due to ovarian hyperthecosis in a young woman

Alpesh Goyal, Rakhi Malhotra, Vidushi Kulshrestha, Garima Kachhawa

BMJ Case Rep. 2019; 12(12): e232783. Published online 2019 Dec 17. doi: 10.1136/bcr-2019-232783

PMCID:: PMC6936414

Abstract Article PDF–193K

Select item 62794729.

UBE2A-Related X-linked Intellectual Disability

Roger E. Stevenson, Albert E. Chudley, Anand K. Srivastava, Jayson Rodriguez, Michael J. Friez, Charles E. Schwartz

Clin Dysmorphol. Author manuscript; available in PMC 2020 Jan 1.

Published in final edited form as: Clin Dysmorphol. 2019 Jan; 28(1): 1–6. doi: 10.1097/MCD.0000000000000242

PMCID:: PMC6279472

Abstract Article PDF–304K

Select item 345970110.

Twenty-year cytogenetic and molecular follow-up of a patient with ring chromosome 15: a case report

Roberta S Guilherme, Vera de FA Meloni, Sylvia S Takeno, Renata Pellegrino, Decio Brunoni, Leslie D Kulikowski, Maria I Melaragno

J Med Case Rep. 2012; 6: 283. Published online 2012 Sep 7. doi: 10.1186/1752-1947-6-283

PMCID:: PMC3459701

Abstract Article PDF–547K

Select item 284079811.

Bloom's syndrome in a 12-year-old Iranian girl

Naeimeh Tayebi, Hossain Khodaei

Indian J Hum Genet. 2008 Sep-Dec; 14(3): 103–105. doi: 10.4103/0971-6866.45003

PMCID:: PMC2840798

Abstract Article PDF–1.1M

Select item 1044855712.

Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First-year

Şervan Özalkak, Meliha Demiral, Edip Ünal, Funda Feryal Taş, Hüseyin Onay, Hüseyin Demirbilek, Mehmet Nuri Özbek

J Clin Res Pediatr Endocrinol. 2023 Sep; 15(3): 329–333. Published online 2023 Aug 23. doi: 10.4274/jcrpe.galenos.2022.2022-1-25

PMCID:: PMC10448557

Abstract Article PDF–612K

Select item 730199113.

Role of gut microbiota in the development of insulin resistance and the mechanism underlying polycystic ovary syndrome: a review

Fang-fang He, Yu-mei Li

J Ovarian Res. 2020; 13: 73. Published online 2020 Jun 17. doi: 10.1186/s13048-020-00670-3

PMCID:: PMC7301991

Abstract Article PDF–827K

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