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Nonsense mutation

A Novel Nonsense Mutation of the GPR143 Gene Identified in a Chinese Pedigree with Ocular Albinism

Naihong Yan, Xuan Liao, Su-ping Cai, Changjun Lan, Yun Wang, Xiaomin Zhou, Yan Yin, Wenhan Yu, Xuyang Liu

published 20 Aug 2012

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Functional and Structural Comparison of Pyrrolnitrin- and Iprodione-Induced Modifications in the Class III Histidine-Kinase Bos1 of Botrytis cinerea

Sabine Fillinger, Sakhr Ajouz, Philippe C. Nicot, Pierre Leroux, Marc Bardin

published 13 Aug 2012

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Prevalence and Clinical Features of Hearing Loss Patients with CDH23 Mutations: A Large Cohort Study

Maiko Miyagawa, Shin-ya Nishio, Shin-ichi Usami

published 10 Aug 2012

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Mutation Patterns of 16 Genes in Primary and Secondary Acute Myeloid Leukemia (AML) with Normal Cytogenetics

Marta Fernandez-Mercado, Bon Ham Yip, Andrea Pellagatti, Carwyn Davies, María José Larrayoz, Toshinori Kondo, Cristina Pérez, Sally Killick, Emma-Jane McDonald, María Dolores Odero, Xabier Agirre, Felipe Prósper, María José Calasanz, James S. Wainscoat, Jacqueline Boultwood

published 09 Aug 2012

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PRRT2 Mutations in Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions in a Taiwanese Cohort

Yi-Chung Lee, Ming-Jen Lee, Hsiang-Yu Yu, Chien Chen, Chang-Hung Hsu, Kon-Ping Lin, Kwong-Kum Liao, Ming-Hong Chang, Yi-Chu Liao, Bing-Wen Soong

published 01 Aug 2012

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Sequence and Copy Number Analyses of HEXB Gene in Patients Affected by Sandhoff Disease: Functional Characterization of 9 Novel Sequence Variants

Stefania Zampieri, Silvia Cattarossi, Ana Maria Oller Ramirez, Camillo Rosano, Charles Marques Lourenco, Nadia Passon, Isabella Moroni, Graziella Uziel, Antonella Pettinari, Franco Stanzial, Raquel Dodelson de Kremer, Nydia Beatriz Azar, Filiz Hazan, Mirella Filocamo, Bruno Bembi, Andrea Dardis

published 27 Jul 2012

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Assessment of TP53 Mutations in Benign and Malignant Salivary Gland Neoplasms

Carolina Cavaliéri Gomes, Marina Gonçalves Diniz, Lissur Azevedo Orsine, Alessandra Pires Duarte, Thiago Fonseca-Silva, Brendan I. Conn, Luiz De Marco, Cláudia Maria Pereira, Ricardo Santiago Gomez

published 19 Jul 2012

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Longitudinal Evaluation of the Hypothalamic-Pituitary-Testicular Function in 8 Boys with Adrenal Hypoplasia Congenita (AHC) Due to NR0B1 Mutations

Caroline Galeotti, Zineb Lahlou, Domitille Goullon, Hélène Sarda-Thibault, Juliette Cahen-Varsaux, Joëlle Bignon-Topalovic, Anu Bashamboo, Ken McElreavey, Raja Brauner

published 27 Jun 2012

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Reversible Congenital Hypogonadotropic Hypogonadism in Patients with CHD7, FGFR1 or GNRHR Mutations

Eeva-Maria Laitinen, Johanna Tommiska, Timo Sane, Kirsi Vaaralahti, Jorma Toppari, Taneli Raivio

published 19 Jun 2012

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Molecular Trajectories Leading to the Alternative Fates of Duplicate Genes

Michael Marotta, Helen Piontkivska, Hisashi Tanaka

published 14 Jun 2012

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A COL7A1 Mutation Causes Dystrophic Epidermolysis Bullosa in Rotes Höhenvieh Cattle

Annie Menoud, Monika Welle, Jens Tetens, Peter Lichtner, Cord Drögemüller

published 08 Jun 2012

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Novel and Recurrent Mutations of WISP3 in Two Chinese Families with Progressive Pseudorheumatoid Dysplasia

Jing Sun, Weibo Xia, Shuli He, Zhen Zhao, Min Nie, Mei Li, Yan Jiang, Xiaoping Xing, Ou Wang, Xunwu Meng, Xueying Zhou

published 07 Jun 2012

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Unspliced Precursors of NMD-Sensitive β-Globin Transcripts Exhibit Decreased Steady-State Levels in Erythroid Cells

Ana Morgado, Fátima Almeida, Alexandre Teixeira, Ana Luísa Silva, Luísa Romão

published 04 Jun 2012

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