Monday, February 27, 2017

Journal of Human Genetics - Table of Contents alert Volume 62 Issue 3

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Journal of Human Genetics


Volume 62, Issue 3 (March 2017)

In this issue
Original Articles
Short Communications

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Original Articles


Mitochondrial DNA diversity of present-day Aboriginal Australians and implications for human evolution in Oceania

Nano Nagle, Kaye N Ballantyne, Mannis van Oven, Chris Tyler-Smith, Yali Xue, Stephen Wilcox, Leah Wilcox, Rust Turkalov, Roland A H van Oorschot, Sheila van Holst Pellekaan, Theodore G Schurr, Peter McAllister, Lesley Williams, Manfred Kayser, R John Mitchell and The Genographic Consortium

J Hum Genet 2017 62: 343-353; advance online publication, December 1, 2016; 10.1038/jhg.2016.147

Abstract | Full Text

Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia

María L Couce, Luís Aldamiz-Echevarría, María A Bueno, Patricia Barros, Amaya Belanger-Quintana, Javier Blasco, María-Teresa García-Silva, Ana M Márquez-Armenteros, Isidro Vitoria, Inmaculada Vives, Rosa Navarrete, Ana Fernández-Marmiesse, Belén Pérez and Celia Pérez-Cerdá

J Hum Genet 2017 62: 355-360; advance online publication, December 1, 2016; 10.1038/jhg.2016.144

Abstract | Full Text

Phylogenetic and population-based approaches to mitogenome variation do not support association with male infertility

Alberto Gómez-Carballa, Jacobo Pardo-Seco, Federico Martinón-Torres and Antonio Salas

J Hum Genet 2017 62: 361-371; advance online publication, December 1, 2016; 10.1038/jhg.2016.130

Abstract | Full Text

Gender-dependent and age-of-onset-specific association of the rs11675434 single-nucleotide polymorphism near TPO with susceptibility to Graves’ ophthalmopathy

Aleksander Kuś, Konrad Szymański, Beata Jurecka-Lubieniecka, Edyta Pawlak-Adamska, Dorota Kula, Piotr Miśkiewicz, Marek Bolanowski, Rafał Płoski, Artur Bossowski, Jacek Daroszewski, Barbara Jarząb and Tomasz Bednarczuk

J Hum Genet 2017 62: 373-377; advance online publication, November 10, 2016; 10.1038/jhg.2016.135

Abstract | Full Text

Comparison between CaGene 5.1 and 6.0 for BRCA1/2 mutation prediction: a retrospective study of 150 BRCA1/2 genetic tests in 517 families with breast/ovarian cancer

Ivana Antonucci, Martina Provenzano, Luca Sorino, Michela Balsamo, Gitana Maria Aceto, Pasquale Battista, David Euhus, Ettore Cianchetti, Patrizia Ballerini, Clara Natoli, Giandomenico Palka and Liborio Stuppia

J Hum Genet 2017 62: 379-387; advance online publication, December 8, 2016; 10.1038/jhg.2016.138

Abstract | Full Text

Association of IL12B risk haplotype and lack of interaction with HLA-Cw6 among the psoriasis patients in India

Aditi Chandra, Swapan Senapati, Saurabh Ghosh, Gobinda Chatterjee and Raghunath Chatterjee

J Hum Genet 2017 62: 389-395; advance online publication, November 10, 2016; 10.1038/jhg.2016.139

Abstract | Full Text

Comparison of exome-based HLA class I genotyping tools: identification of platform-specific genotyping errors OPEN

Kazuma Kiyotani, Tu H Mai and Yusuke Nakamura

J Hum Genet 2017 62: 397-405; advance online publication, November 24, 2016; 10.1038/jhg.2016.141

Abstract | Full Text

Genetic trail for the early migrations of Aisin Gioro, the imperial house of the Qing dynasty

Lan-Hai Wei, Shi Yan, Ge Yu, Yun-Zhi Huang, Da-Li Yao, Shi-Lin Li, Li Jin and Hui Li

J Hum Genet 2017 62: 407-411; advance online publication, November 17, 2016; 10.1038/jhg.2016.142

Abstract | Full Text

A combined linkage and association strategy identifies a variant near the GSTP1 gene associated with BMI in the Mexican population

Hugo Villamil-Ramírez, Paola León-Mimila, Luis R Macias-Kauffer, Adrián Canizalez-Román, Marisela Villalobos-Comparán, Nidia León-Sicairos, Joel Vega-Badillo, Fausto Sánchez-Muñoz, Blanca López-Contreras, Sofía Morán-Ramos, Teresa Villarreal-Molina, Luis C Zurita, Francisco Campos-Pérez, Adriana Huertas-Vazquez, Rafael Bojalil, Sandra Romero-Hidalgo, Carlos A Aguilar-Salinas and Samuel Canizales-Quinteros

J Hum Genet 2017 62: 413-418; advance online publication, November 24, 2016; 10.1038/jhg.2016.145

Abstract | Full Text

The investigation of the origin of Southern Tunisians using HLA genes

Abdelhafidh Hajjej, Wassim Y Almawi, Lasmar Hattab, Amel El-Gaaied and Slama Hmida

J Hum Genet 2017 62: 419-429; advance online publication, November 24, 2016; 10.1038/jhg.2016.146

Abstract | Full Text

HMSN Lom in 12 Czech patients, with one unusual case due to uniparental isodisomy of chromosome 8

Dana Šafka Brožková, Jaroslava Paulasová Schwabová, Jana Neupauerová, Jana Sabová, Marcela Krůtová, Vladimír Peřina, Marie Trková, Petra Laššuthová and Pavel Seeman

J Hum Genet 2017 62: 431-435; advance online publication, December 22, 2016; 10.1038/jhg.2016.148

Abstract | Full Text

Short Communications


Identification of a novel LRRK1 mutation in a family with osteosclerotic metaphyseal dysplasia

Long Guo, Katta M Girisha, Aritoshi Iida, Malavika Hebbar, Anju Shukla, Hitesh Shah, Gen Nishimura, Naomichi Matsumoto, Shifa Nismath, Noriko Miyake and Shiro Ikegawa

J Hum Genet 2017 62: 437-441; advance online publication, November 10, 2016; 10.1038/jhg.2016.136

Abstract | Full Text

Late-onset episodic ataxia associated with SLC1A3 mutation

Kwang-Dong Choi, Joanna C Jen, Seo Young Choi, Jin-Hong Shin, Hyang-Sook Kim, Hyo-Jung Kim, Ji-Soo Kim and Jae-Hwan Choi

J Hum Genet 2017 62: 443-446; advance online publication, November 10, 2016; 10.1038/jhg.2016.137

Abstract | Full Text

Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2

Long Guo, Nursel H Elcioglu, Aritoshi Iida, Yasemin K Demirkol, Seda Aras, Naomichi Matsumoto, Gen Nishimura, Noriko Miyake and Shiro Ikegawa

J Hum Genet 2017 62: 447-451; advance online publication, November 24, 2016; 10.1038/jhg.2016.143

Abstract | Full Text

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