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Mutation databases

Comprehensive Genomic Characterization of Cutaneous Malignant Melanoma Cell Lines Derived from Metastatic Lesions by Whole-Exome Sequencing and SNP Array Profiling

Ingrid Cifola, Alessandro Pietrelli, Clarissa Consolandi, Marco Severgnini, Eleonora Mangano, Vincenzo Russo, Gianluca De Bellis, Cristina Battaglia

published 21 May 2013

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Novel Compound Heterozygous TMC1 Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family

Xue Gao, Yu Su, Li-Ping Guan, Yong-Yi Yuan, Sha-Sha Huang, Yu Lu, Guo-Jian Wang, Ming-Yu Han, Fei Yu, Yue-Shuai Song, Qing-Yan Zhu, Jing Wu, Pu Dai

published 14 May 2013

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Equivalent Indels – Ambiguous Functional Classes and Redundancy in Databases

Jens Assmus, Jürgen Kleffe, Armin O. Schmitt, Gudrun A. Brockmann

published 02 May 2013

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Minor Hypospadias: The “Tip of the Iceberg” of the Partial Androgen Insensitivity Syndrome

Nicolas Kalfa, Pascal Philibert, Ralf Werner, Françoise Audran, Anu Bashamboo, Hélène Lehors, Myriam Haddad, Jean Michel Guys, Rachel Reynaud, Pierre Alessandrini, Kathy Wagner, Jean Yves Kurzenne, Florence Bastiani, Jean Bréaud, Jean Stéphane Valla, Gérard Morisson Lacombe, Mattea Orsini, Jean-Pierre Daures, Olaf Hiort, Françoise Paris, Kenneth McElreavey, Charles Sultan

published 30 Apr 2013

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Identification of Functional Mutations in GATA4 in Patients with Congenital Heart Disease

Erli Wang, Shuna Sun, Bin Qiao, Wenyuan Duan, Guoying Huang, Yu An, Shuhua Xu, Yufang Zheng, Zhixi Su, Xun Gu, Li Jin, Hongyan Wang

published 23 Apr 2013

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A Patient with Posterior Cortical Atrophy Possesses a Novel Mutation in the Presenilin 1 Gene

Emilia J. Sitek, Ewa Narożańska, Beata Pepłońska, Sławomir Filipek, Anna Barczak, Maria Styczyńska, Krzysztof Mlynarczyk, Bogna Brockhuis, Erik Portelius, Dorota Religa, Maria Barcikowska, Jarosław Sławek, Cezary Żekanowski

published 12 Apr 2013

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MitoLSDB: A Comprehensive Resource to Study Genotype to Phenotype Correlations in Human Mitochondrial DNA Variations

Shamnamole K, Saakshi Jalali, Vinod Scaria, Anshu Bhardwaj

published 09 Apr 2013

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Few Single Nucleotide Variations in Exomes of Human Cord Blood Induced Pluripotent Stem Cells

Rui-Jun Su, Yadong Yang, Amanda Neises, Kimberly J. Payne, Jasmin Wang, Kasthuribai Viswanathan, Edward K. Wakeland, Xiangdong Fang, Xiao-Bing Zhang

published 01 Apr 2013

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Automated Universal BRAF State Detection within the Activation Segment in Skin Metastases by Pyrosequencing-Based Assay U-BRAF^V600

Alexander Skorokhod, Peter Helmbold, Benedikt Brors, Peter Schirmacher, Alexander Enk, Roland Penzel

published 26 Mar 2013

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Trends in Antiretroviral Therapy and Prevalence of HIV Drug Resistance Mutations in Sweden 1997–2011

Irene Bontell, Amanda Häggblom, Göran Bratt, Jan Albert, Anders Sönnerborg

published 22 Mar 2013

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Scoring Methods for Building Genotypic Scores: An Application to Didanosine Resistance in a Large Derivation Set

Allal Houssaini, Lambert Assoumou, Veronica Miller, Vincent Calvez, Anne-Geneviève Marcelin, Philippe Flandre

published 21 Mar 2013

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Comprehensive Analysis of BRCA1, BRCA2 and TP53 Germline Mutation and Tumor Characterization: A Portrait of Early-Onset Breast Cancer in Brazil

Dirce Maria Carraro, Maria Aparecida Azevedo Koike Folgueira, Bianca Cristina Garcia Lisboa, Eloisa Helena Ribeiro Olivieri, Ana Cristina Vitorino Krepischi, Alex Fiorini de Carvalho, Louise Danielle de Carvalho Mota, Renato David Puga, Maria do Socorro Maciel, Rodrigo Augusto Depieri Michelli, Eduardo Carneiro de Lyra, Stana Helena Giorgi Grosso, Fernando Augusto Soares, Maria Isabel Alves de Souza Waddington Achatz, Helena Brentani, Carlos Alberto Moreira-Filho, Maria Mitzi Brentani

published 01 Mar 2013

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Mutational Spectrum of Semaphorin 3A and Semaphorin 3D Genes in Spanish Hirschsprung patients

Berta Luzón-Toro, Raquel M. Fernández, Ana Torroglosa, Juan Carlos de Agustín, Cristina Méndez-Vidal, Dolores Isabel Segura, Guillermo Antiñolo, Salud Borrego

published 23 Jan 2013

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