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Select item 17159821.

A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA13, maps to chromosome 6p.

M R Brown, M S Tomek, L Van Laer, S Smith, J B Kenyon, G Van Camp, R J Smith

Am J Hum Genet. 1997 Oct; 61(4): 924–927. doi: 10.1086/514892

PMCID:: PMC1715982

Summary Page Browse PDF–921K

Select item 39992582.

Anne M.M. Oonk, Joop M. Leijendeckers, Patrick L.M. Huygen, Margit Schraders, Miguel del Campo, Ignacio del Castillo, Mustafa Tekin, Ilse Feenstra, Andy J. Beynon, Henricus P.M. Kunst, Ad F.M. Snik, Hannie Kremer, Ronald J.C. Admiraal, Ronald J.E. Pennings

Ear Hear. Author manuscript; available in PMC 2015 May 1.

Published in final edited form as: Ear Hear. 2014 May-Jun; 35(3): e84–e91. doi: 10.1097/AUD.0000000000000008

PMCID:: PMC3999258

Abstract Article PDF–869K

Select item 17359253.

Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus

W Chen, K Kahrizi, N Meyer, Y Riazalhosseini, G Van Camp, H Najmabadi, R Smith

J Med Genet. 2005 Oct; 42(10): e61. doi: 10.1136/jmg.2005.032615

PMCID:: PMC1735925

Summary PDF–271K

Select item 17572494.

A novel locus for autosomal dominant non-syndromic hearing loss, DFNA31, maps to chromosome 6p21.3

R Snoeckx, H Kremer, R Ensink, K Flothmann, A de Brouwer, R Smith, C Cremers, G Van Camp

J Med Genet. 2004 Jan; 41(1): 11–13. doi: 10.1136/jmg.2003.010702

PMCID:: PMC1757249

Summary PDF–153K

Select item 25384175.

Audiological Evaluation of Affected Members from a Dutch DFNA8/12 (TECTA) Family

Rutger F. Plantinga, Cor W.R.J. Cremers, Patrick L.M. Huygen, Henricus P.M. Kunst, Arjan J. Bosman

J Assoc Res Otolaryngol. 2007 Mar; 8(1): 1–7. Published online 2006 Nov 30. doi: 10.1007/s10162-006-0060-9

PMCID:: PMC2538417

Abstract Article PDF–311K

Select item 24674086.

Leopard syndrome

Anna Sarkozy, Maria Cristina Digilio, Bruno Dallapiccola

Orphanet J Rare Dis. 2008; 3: 13. Published online 2008 May 27. doi: 10.1186/1750-1172-3-13

PMCID:: PMC2467408

Abstract Article PDF–965K

Select item 106049057.

Functional Consequences of Pathogenic Variants of the GJB2 Gene (Cx26) Localized in Different Cx26 Domains

Olga L. Posukh, Ekaterina A. Maslova, Valeriia Yu. Danilchenko, Marina V. Zytsar, Konstantin E. Orishchenko

Biomolecules. 2023 Oct; 13(10): 1521. Published online 2023 Oct 13. doi: 10.3390/biom13101521

PMCID:: PMC10604905

Abstract Article PDF–2.5M

Select item 48197608.

An effective screening strategy for deafness in combination with a next-generation sequencing platform: a consecutive analysis

Naoko Sakuma, Hideaki Moteki, Masahiro Takahashi, Shin-ya Nishio, Yasuhiro Arai, Yukiko Yamashita, Nobuhiko Oridate, Shin-ichi Usami

J Hum Genet. 2016 Mar; 61(3): 253–261. Published online 2016 Jan 14. doi: 10.1038/jhg.2015.143

PMCID:: PMC4819760

Abstract Article PDF–482K

Select item 44485359.

A novel EYA4 mutation causing hearing loss in a Chinese DFNA family and genotype-phenotype review of EYA4 in deafness

Aiping Huang, Yongyi Yuan, Yanping Liu, Qingwen Zhu, Pu Dai

J Transl Med. 2015; 13: 154. Published online 2015 May 12. doi: 10.1186/s12967-015-0483-3

PMCID:: PMC4448535

Abstract Article PDF–2.4M

Select item 418996710.

Juvenile Paget’s Disease With Heterozygous Duplication In TNFRSF11A Encoding RANK

Michael P. Whyte, Cristina Tau, William H. McAlister, Xiafang Zhang, Deborah V. Novack, Virginia Preliasco, Eduardo Santini-Araujo, Steven Mumm

Bone. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Bone. 2014 Nov; 68: 153–161. Published online 2014 Jul 23. doi: 10.1016/j.bone.2014.07.019

PMCID:: PMC4189967

Abstract Article PDF–2.4M

Select item 388882711.

The cone-dominant retina and the inner ear of zebrafish express the ortholog of CLRN1, the causative gene of human Usher syndrome type 3A

Jennifer B. Phillips, Hanna Västinsalo, Jeremy Wegner, Aurélie Clément, Eeva-Marja Sankila, Monte Westerfield

Gene Expr Patterns. Author manuscript; available in PMC 2014 Dec 1.

Published in final edited form as: Gene Expr Patterns. 2013 Dec; 13(8): 473–481. Published online 2013 Sep 14. doi: 10.1016/j.gep.2013.09.001

PMCID:: PMC3888827

Abstract Article PDF–3.9M

Select item 380662012.

Autosomal Dominant Diabetes Arising From a Wolfram Syndrome 1 Mutation

Lori L. Bonnycastle, Peter S. Chines, Takashi Hara, Jeroen R. Huyghe, Amy J. Swift, Pirkko Heikinheimo, Jana Mahadevan, Sirkku Peltonen, Hanna Huopio, Pirjo Nuutila, Narisu Narisu, Rachel L. Goldfeder, Michael L. Stitzel, Simin Lu, Michael Boehnke, Fumihiko Urano, Francis S. Collins, Markku Laakso

Diabetes. 2013 Nov; 62(11): 3943–3950. Published online 2013 Oct 18. doi: 10.2337/db13-0571

PMCID:: PMC3806620

Abstract Article PDF–1.0M

Select item 366267513.

Comprehensive Genetic Screening of KCNQ4 in a Large Autosomal Dominant Nonsyndromic Hearing Loss Cohort: Genotype-Phenotype Correlations and a Founder Mutation

Takehiko Naito, Shin-ya Nishio, Yoh-ichiro Iwasa, Takuya Yano, Kozo Kumakawa, Satoko Abe, Kotaro Ishikawa, Hiromi Kojima, Atsushi Namba, Chie Oshikawa, Shin-ichi Usami

PLoS One. 2013; 8(5): e63231. Published online 2013 May 23. doi: 10.1371/journal.pone.0063231

PMCID:: PMC3662675

Abstract Article PDF–925K

Select item 284785014.

Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?

Nele Hilgert, Richard J.H. Smith, Guy Van Camp

Mutat Res. Author manuscript; available in PMC 2010 Mar 31.

Published in final edited form as: Mutat Res. 2009 Mar–Jun; 681(2-3): 189–196. Published online 2008 Aug 29. doi: 10.1016/j.mrrev.2008.08.002

PMCID:: PMC2847850

Abstract Article PDF–77K

Select item 501407615.

Defects of mutant DNMT1 are linked to a spectrum of neurological disorders

Jonathan Baets, Xiaohui Duan, Yanhong Wu, Gordon Smith, William W. Seeley, Inès Mademan, Nicole M. McGrath, Noah C. Beadell, Julie Khoury, Maria-Victoria Botuyan, Georges Mer, Gregory A. Worrell, Kaori Hojo, Jessica DeLeon, Matilde Laura, Yo-Tsen Liu, Jan Senderek, Joachim Weis, Peter Van den Bergh, Shana L. Merrill, Mary M. Reilly, Henry Houlden, Murray Grossman, Steven S. Scherer, Peter De Jonghe, Peter J. Dyck, Christopher J. Klein

Brain. 2015 Apr; 138(4): 845–861. Published online 2015 Feb 10. doi: 10.1093/brain/awv010

PMCID:: PMC5014076

Abstract Article PDF–1.4M

Select item 146106016.

Genomic, transcriptional and mutational analysis of the mouse microphthalmia locus.

J H Hallsson, J Favor, C Hodgkinson, T Glaser, M L Lamoreux, R Magnúsdóttir, G J Gunnarsson, H O Sweet, N G Copeland, N A Jenkins, E Steingrímsson

Genetics. 2000 May; 155(1): 291–300. doi: 10.1093/genetics/155.1.291

PMCID:: PMC1461060

Summary PDF–213K

Select item 137704617.

Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.

P M Kelley, D J Harris, B C Comer, J W Askew, T Fowler, S D Smith, W J Kimberling

Am J Hum Genet. 1998 Apr; 62(4): 792–799. doi: 10.1086/301807

PMCID:: PMC1377046

Summary PDF–492K

Select item 128823818.

Genetic Linkage of the Muckle-Wells Syndrome to Chromosome 1q44

Laurence Cuisset, Joost P. H. Drenth, Jean-Marie Berthelot, Alain Meyrier, Gérard Vaudour, Richard A. Watts, David G. I. Scott, Anne Nicholls, Sylvana Pavek, Christian Vasseur, Jacques S. Beckmann, Marc Delpech, Gilles Grateau

Am J Hum Genet. 1999 Oct; 65(4): 1054–1059. Published online 1999 Sep 2. doi: 10.1086/302589

PMCID:: PMC1288238

Abstract Article PDF–217K

Select item 105054519.

Chromosome 13q deletion with Waardenburg syndrome: further evidence for a gene involved in neural crest function on 13q.

G Van Camp, M N Van Thienen, I Handig, B Van Roy, V S Rao, A Milunsky, A P Read, C T Baldwin, L A Farrer, M Bonduelle, et al.

J Med Genet. 1995 Jul; 32(7): 531–536. doi: 10.1136/jmg.32.7.531

PMCID:: PMC1050545

Summary Page Browse PDF–1.2M

Select item 102997520.

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

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