PMC Articles for MedGen (Select 341116) - PMC

Links from MedGen

Items: 1 to 20 of 30

<< First< Prev

Page of 2

Select item 43750191.

Exome Sequencing Identifies a Novel CEACAM16 Mutation Associated with Autosomal Dominant Nonsyndromic Hearing Loss DFNA4B in a Chinese Family

Honghan Wang, Xinwei Wang, Chufeng He, Haibo Li, Jie Qing, Mhamed Grati, Zhengmao Hu, Jiada Li, Yiqiao Hu, Kun Xia, Lingyun Mei, Xingwei Wang, Jianjun Yu, Hongsheng Chen, Lu Jiang, Yalan Liu, Meichao Men, Hailin Zhang, Liping Guan, Jingjing Xiao, Jianguo Zhang, Xuezhong Liu, Yong Feng

J Hum Genet. Author manuscript; available in PMC 2015 Sep 1.

Published in final edited form as: J Hum Genet. 2015 Mar; 60(3): 119–126. Published online 2015 Jan 15. doi: 10.1038/jhg.2014.114

PMCID:: PMC4375019

Abstract Article PDF–1.4M

Select item 492532.

The gene for an inherited form of deafness maps to chromosome 5q31.

P E Leon, H Raventos, E Lynch, J Morrow, M C King

Proc Natl Acad Sci U S A. 1992 Jun 1; 89(11): 5181–5184. doi: 10.1073/pnas.89.11.5181

PMCID:: PMC49253

Summary Page Browse PDF–599K

Select item 3791703.

Grouping of Multiple-Lentigines/LEOPARD and Noonan Syndromes on the PTPN11 Gene

Maria Cristina Digilio, Emanuela Conti, Anna Sarkozy, Rita Mingarelli, Tania Dottorini, Bruno Marino, Antonio Pizzuti, Bruno Dallapiccola

Am J Hum Genet. 2002 Aug; 71(2): 389–394. Published online 2002 Jun 7. doi: 10.1086/341528

PMCID:: PMC379170

Abstract Article PDF–366K

Select item 4873624.

Hereditary prolongation of QT interval: Study of two families

G. E. Gale, C. K. Bosman, R. B. K. Tucker, J. B. Barlow

Br Heart J. 1970 Jul; 32(4): 505–509. doi: 10.1136/hrt.32.4.505

PMCID:: PMC487362

Summary Page Browse PDF–1.2M

Select item 10163465.

Consanguinity, cardiac arrest, hearing impairment, and ECG abnormalities: counselling pitfalls in the Romano-Ward syndrome.

W Reardon, N Lewis, H E Hughes

J Med Genet. 1993 Apr; 30(4): 325–327. doi: 10.1136/jmg.30.4.325

PMCID:: PMC1016346

Summary Page Browse PDF–452K

Select item 10299756.

De novo facioscapulohumeral muscular dystrophy defined by DNA probe p13E-11 (D4F104S1).

P E Jardine, M C Koch, P W Lunt, J Maynard, K D Bathke, P S Harper, M Upadhyaya

Arch Dis Child. 1994 Sep; 71(3): 221–227. doi: 10.1136/adc.71.3.221

PMCID:: PMC1029975

Summary Page Browse PDF–1.6M

Select item 12882117.

A Novel Locus (DFNA24) for Prelingual Nonprogressive Autosomal Dominant Nonsyndromic Hearing Loss Maps to 4q35-qter in a Large Swiss German Kindred

Franziska M. Häfner, Ambar A. Salam, Thomas E. Linder, Damina Balmer, Allessandra Baumer, Albert A. Schinzel, Thomas Spillmann, Suzanne M. Leal

Am J Hum Genet. 2000 Apr; 66(4): 1437–1442. Published online 2000 Mar 17. doi: 10.1086/302865

PMCID:: PMC1288211

Abstract Article PDF–202K

Select item 24537838.

Missense Mutations in POU4F3 Cause Autosomal Dominant Hearing Impairment DFNA15 and Affect Subcellular Localization and DNA Binding

Rob W.J. Collin, Ramesh Chellappa, Robert-Jan Pauw, Gert Vriend, Jaap Oostrik, Wendy van Drunen, Patrick L. Huygen, Ronald Admiraal, Lies H. Hoefsloot, Frans P.M. Cremers, Mengqing Xiang, Cor W.R.J. Cremers, Hannie Kremer

Hum Mutat. Author manuscript; available in PMC 2009 Apr 1.

Published in final edited form as: Hum Mutat. 2008 Apr; 29(4): 545–554. doi: 10.1002/humu.20693

PMCID:: PMC2453783

Abstract Article PDF–519K

Select item 29221809.

Increased activity of Diaphanous homolog 3 (DIAPH3)/diaphanous causes hearing defects in humans with auditory neuropathy and in Drosophila

Cynthia J. Schoen, Sarah B. Emery, Marc C. Thorne, Hima R. Ammana, Elżbieta Śliwerska, Jameson Arnett, Michael Hortsch, Frances Hannan, Margit Burmeister, Marci M. Lesperance

Proc Natl Acad Sci U S A. 2010 Jul 27; 107(30): 13396–13401. Published online 2010 Jul 12. doi: 10.1073/pnas.1003027107

PMCID:: PMC2922180

Abstract Article PDF–294K

Select item 309739510.

MYH9 Genetic Variants Associated With Glomerular Disease: What Is the Role for Genetic Testing?

Jeffrey B. Kopp, Cheryl A. Winkler, George W. Nelson

Semin Nephrol. Author manuscript; available in PMC 2011 May 19.

Published in final edited form as: Semin Nephrol. 2010 Jul; 30(4): 409–417. doi: 10.1016/j.semnephrol.2010.06.007

PMCID:: PMC3097395

Abstract Article PDF–380K

Select item 325918711.

Early developmental expression of connexin26 in the cochlea contributes to its dominate functional role in the cochlear gap junctions

Yan Qu, Wenxue Tang, Binfei Zhou, Shoeb Ahmad, Qing Chang, Xi Lin

Biochem Biophys Res Commun. Author manuscript; available in PMC 2013 Jan 6.

Published in final edited form as: Biochem Biophys Res Commun. 2012 Jan 6; 417(1): 245–250. Published online 2011 Nov 28. doi: 10.1016/j.bbrc.2011.11.093

PMCID:: PMC3259187

Abstract Article PDF–530K

Select item 346569112.

Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy

Juliane Winkelmann, Ling Lin, Barbara Schormair, Birgitte R. Kornum, Juliette Faraco, Giuseppe Plazzi, Atle Melberg, Ferdinando Cornelio, Alexander E. Urban, Fabio Pizza, Francesca Poli, Fabian Grubert, Thomas Wieland, Elisabeth Graf, Joachim Hallmayer, Tim M. Strom, Emmanuel Mignot

Hum Mol Genet. 2012 May 15; 21(10): 2205–2210. Published online 2012 Feb 9. doi: 10.1093/hmg/dds035

PMCID:: PMC3465691

Abstract Article PDF–339K

Select item 413052013.

Targeted High-Throughput Sequencing Identifies Pathogenic Mutations in KCNQ4 in Two Large Chinese Families with Autosomal Dominant Hearing Loss

Hongyang Wang, Yali Zhao, Yuting Yi, Yun Gao, Qiong Liu, Dayong Wang, Qian Li, Lan Lan, Na Li, Jing Guan, Zifang Yin, Bing Han, Feifan Zhao, Liang Zong, Wenping Xiong, Lan Yu, Lijie Song, Xin Yi, Ling Yang, Christine Petit, Qiuju Wang

PLoS One. 2014; 9(8): e103133. Published online 2014 Aug 12. doi: 10.1371/journal.pone.0103133

PMCID:: PMC4130520

Abstract Article PDF–735K

Select item 1111615214.

GSDME基因剪切变异相关的迟发性非综合征型听力损失

李丹阳, 王洪阳, 王秋菊

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2024 Jan 3; 38(1): 30–37. Chinese. doi: 10.13201/j.issn.2096-7993.2024.01.005

PMCID:: PMC11116152

Abstract Article PDF–3.4M

Select item 454341315.

Phenotypic variability in gap junction syndromic skin disorders: experience from KID and Clouston syndromes’ clinical diagnostics

Anna Kutkowska-Kaźmierczak, Katarzyna Niepokój, Katarzyna Wertheim-Tysarowska, Aleksandra Giza, Maria Mordasewicz-Goliszewska, Jerzy Bal, Ewa Obersztyn

J Appl Genet. 2015; 56(3): 329–337. Published online 2015 Jan 10. doi: 10.1007/s13353-014-0266-1

PMCID:: PMC4543413

Abstract Article PDF–576K

Select item 501185016.

Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy

Kristin D. Kernohan, Laila Cigana Schenkel, Lijia Huang, Amanda Smith, Guillaume Pare, Peter Ainsworth, Care4Rare Canada Consortium, Kym M. Boycott, Jodi Warman-Chardon, Bekim Sadikovic

Clin Epigenetics. 2016; 8(1): 91. Published online 2016 Sep 5. doi: 10.1186/s13148-016-0254-x

PMCID:: PMC5011850

Abstract Article PDF–2.1M

Select item 529723917.

An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes

Polona Le Quesne Stabej, Chela James, Louise Ocaka, Mehmet Tekman, Stephanie Grunewald, Emma Clement, Horia C. Stanescu, Robert Kleta, Deborah Morrogh, Alistair Calder, Hywel J. Williams, Maria Bitner-Glindzicz

Orphanet J Rare Dis. 2017; 12: 24. Published online 2017 Feb 7. doi: 10.1186/s13023-017-0582-8

PMCID:: PMC5297239

Abstract Article PDF–1.4M

Select item 535842118.

Clinical Auditory Phenotypes Associated with GATA3 Gene Mutations in Familial Hypoparathyroidism-deafness-renal Dysplasia Syndrome

Li Wang, Qiong-Fen Lin, Hong-Yang Wang, Jing Guan, Lan Lan, Lin-Yi Xie, Lan Yu, Ju Yang, Cui Zhao, Jin-Long Liang, Han-Lin Zhou, Huan-Ming Yang, Wen-Ping Xiong, Qiu-Jing Zhang, Da-Yong Wang, Qiu-Ju Wang

Chin Med J (Engl) 2017 Mar 20; 130(6): 703–709. doi: 10.4103/0366-6999.201600

PMCID:: PMC5358421

Abstract Article PDF–1.1M

Select item 603499519.

Genetic analysis of CHARGE syndrome identifies overlapping molecular biology

Amanda Moccia, Anshika Srivastava, Jennifer M. Skidmore, John A. Bernat, Marsha Wheeler, University of Washington Center for Mendelian Genomics, Jessica X.Chong, Deborah Nickerson, Michael Bamshad, Margaret A. Hefner, Donna M. Martin, Stephanie L. Bielas

Genet Med. Author manuscript; available in PMC 2018 Jul 6.

Published in final edited form as: Genet Med. 2018 Sep; 20(9): 1022–1029. Published online 2018 Jan 4. doi: 10.1038/gim.2017.233

PMCID:: PMC6034995

Abstract Article PDF–432K

Select item 704665920.

Prevalence and clinical features of hearing loss caused by EYA4 variants

Jun Shinagawa, Hideaki Moteki, Shin-ya Nishio, Kenji Ohyama, Koshi Otsuki, Satoshi Iwasaki, Shin Masuda, Chie Oshikawa, Yumi Ohta, Yasuhiro Arai, Masahiro Takahashi, Naoko Sakuma, Satoko Abe, Yuika Sakurai, Hirofumi Sakaguchi, Takashi Ishino, Natsumi Uehara, Shin-ichi Usami

Sci Rep. 2020; 10: 3662. Published online 2020 Feb 27. doi: 10.1038/s41598-020-60259-0

PMCID:: PMC7046659

Abstract Article PDF–1.7M

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 1 to 20 of 30

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity