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Mutation detection

Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families

Caroline Van Cauwenbergh, Frauke Coppieters, Dimitri Roels, Sarah De Jaegere, Helena Flipts, Julie De Zaeytijd, Sophie Walraedt, Charlotte Claes, Erik Fransen, Guy Van Camp, Fanny Depasse, Ingele Casteels, Thomy de Ravel, Bart P. Leroy, Elfride De Baere

published 11 Jan 2017

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A Novel Missense Mutation 224G>T (R75M) in SRY Coding Region Interferes with Nuclear Import and Results in 46, XY Complete Gonadal Dysgenesis

Wufang Fan, Bei Wang, Shanshan He, Tengfei Zhang, Chenxing Yin, Yunping Chen, Shuqi Zheng, Jixia Zhang, Lin Li

published 28 Dec 2016

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Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing

Marta de Castro-Miró, Raul Tonda, Paula Escudero-Ferruz, Rosa Andrés, Andrés Mayor-Lorenzo, Joaquín Castro, Marcela Ciccioli, Daniel A. Hidalgo, Juan José Rodríguez-Ezcurra, Jorge Farrando, Juan J. Pérez-Santonja, Bru Cormand, Gemma Marfany, Roser Gonzàlez-Duarte

published 22 Dec 2016

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Detectable Viral Load in Late Pregnancy among Women in the Rwanda Option B+ PMTCT Program: Enrollment Results from the Kabeho Study

Michelle M. Gill, Heather J. Hoffman, Emily A. Bobrow, Placidie Mugwaneza, Dieudonne Ndatimana, Gilles F. Ndayisaba, Cyprien Baribwira, Laura Guay, Anita Asiimwe

published 22 Dec 2016

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A Novel HRAS Mutation Independently Contributes to Left Ventricular Hypertrophy in a Family with a Known MYH7 Mutation

Maria Elena Sana, Lawrence A. Quilliam, Andrea Spitaleri, Laura Pezzoli, Daniela Marchetti, Chiara Lodrini, Elisabetta Candiago, Anna Rita Lincesso, Paolo Ferrazzi, Maria Iascone

published 21 Dec 2016

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Intragenic Deletions in ATP7B as an Unusual Molecular Genetics Mechanism of Wilson’s Disease Pathogenesis

Theodor Todorov, Prahlad Balakrishnan, Alexey Savov, Piotr Socha, Hartmut H. J. Schmidt

published 19 Dec 2016

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Tertiary Epimutations – A Novel Aspect of Epigenetic Transgenerational Inheritance Promoting Genome Instability

John R. McCarrey, Jake D. Lehle, Seetha S. Raju, Yufeng Wang, Eric E. Nilsson, Michael K. Skinner

published 19 Dec 2016

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Analysis of Sequence Variation and Risk Association of Human Papillomavirus 52 Variants Circulating in Korea

Youn Jin Choi, Eun Young Ki, Chuqing Zhang, Wendy C. S. Ho, Sung-Jong Lee, Min Jin Jeong, Paul K. S. Chan, Jong Sup Park

published 15 Dec 2016

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The Effects of Ca²⁺ Concentration and E200K Mutation on the Aggregation Propensity of PrP^C: A Computational Study

Alessandro Marrone, Nazzareno Re, Loriano Storchi

published 13 Dec 2016

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Novel and De Novo Mutations Extend Association of POU3F4 with Distinct Clinical and Radiological Phenotype of Hearing Loss

Agnieszka Pollak, Urszula Lechowicz, Anna Kędra, Piotr Stawiński, Małgorzata Rydzanicz, Mariusz Furmanek, Małgorzata Brzozowska, Maciej Mrówka, Henryk Skarżyński, Piotr H. Skarżyński, Monika Ołdak, Rafał Płoski

published 12 Dec 2016

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Multimodal Imaging of Photoreceptor Structure in Choroideremia

Lynn W. Sun, Ryan D. Johnson, Vesper Williams, Phyllis Summerfelt, Alfredo Dubra, David V. Weinberg, Kimberly E. Stepien, Gerald A. Fishman, Joseph Carroll

published 09 Dec 2016

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Development of RNA-FISH Assay for Detection of Oncogenic FGFR3-TACC3 Fusion Genes in FFPE Samples

Masahiro Kurobe, Takahiro Kojima, Kouichi Nishimura, Shuya Kandori, Takashi Kawahara, Takayuki Yoshino, Satoshi Ueno, Yuichi Iizumi, Koji Mitsuzuka, Yoichi Arai, Hiroshi Tsuruta, Tomonori Habuchi, Takashi Kobayashi, Yoshiyuki Matsui, Osamu Ogawa, Mikio Sugimoto, Yoshiyuki Kakehi, Yoshiyuki Nagumo, Masakazu Tsutsumi, Takehiro Oikawa, Koji Kikuchi, Hiroyuki Nishiyama

published 08 Dec 2016

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Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients

Yoh-ichiro Iwasa, Shin-ya Nishio, Shin-ichi Usami

published 02 Dec 2016

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