PMC Articles for MedGen (Select 390743) - PMC

Select item 93043571.

Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hearing loss

So Young Kim, Bong Jik Kim, Doo Yi Oh, Jin Hee Han, Nayoung Yi, Namju Justin Kim, Moo Kyun Park, Changwon Keum, Go Hun Seo, Byung Yoon Choi

Sci Rep. 2022; 12: 12457. Published online 2022 Jul 21. doi: 10.1038/s41598-022-16661-x

PMCID:: PMC9304357

Article PDF–1.2M

Select item 86856512.

WFS1 protein expression correlates with clinical progression of optic atrophy in patients with Wolfram syndrome

Kun Hu, Malgorzata Zatyka, Dewi Astuti, Nicola Beer, Renuka P Dias, Archana Kulkarni, John Ainsworth, Benjamin Wright, Anna Majander, Patrick Yu-Wai-Man, Denise Williams, Timothy Barrett

J Med Genet. 2022 Jan; 59(1): 65–74. Published online 2021 May 18. doi: 10.1136/jmedgenet-2020-107257

PMCID:: PMC8685651

Article PDF–2.8M

Select item 85420863.

Genotype-phenotype Correlation Study in a Large Series of Patients Carrying the p.Pro51Ser (p.P51S) Variant in COCH (DFNA9): Part I—A Cross-sectional Study of Hearing Function in 111 Carriers

Sebastien P. F. JanssensdeVarebeke, Julie Moyaert, Erik Fransen, Britt Bulen, Celine Neesen, Katrien Devroye, Raymond van de Berg, Ronald J. E. Pennings, Vedat Topsakal, Olivier Vanderveken, Guy Van Camp, Vincent Van Rompaey

Ear Hear. 2021 Nov-Dec; 42(6): 1508–1524. Published online 2021 Oct 22. doi: 10.1097/AUD.0000000000001099

PMCID:: PMC8542086

Article PDF–1.4M

Select item 77623344.

Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical Practice

Gema García-García, Alba Berzal-Serrano, Piedad García-Díaz, Rebeca Villanova-Aparisi, Sara Juárez-Rodríguez, Carlos de Paula-Vernetta, Laura Cavallé-Garrido, Teresa Jaijo, Miguel Armengot-Carceller, José M Millán, Elena Aller

Genes (Basel) 2020 Dec; 11(12): 1467. Published online 2020 Dec 7. doi: 10.3390/genes11121467

PMCID:: PMC7762334

Article PDF–3.1M

Select item 45591625.

CHARGE syndrome due to deletion of region upstream of CHD7 gene START codon

Elisa Pisaneschi, Pietro Sirleto, Francesca Romana Lepri, Silvia Genovese, Maria Lisa Dentici, Stefano Petrocchi, Adriano Angioni, Maria Cristina Digilio, Bruno Dallapiccola

BMC Med Genet. 2015; 16: 78. Published online 2015 Sep 3. doi: 10.1186/s12881-015-0225-7

PMCID:: PMC4559162

Article PDF–746K

Select item 12882116.

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

Article PDF–202K

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