Friday, April 25, 2014

Journal of Human Genetics - Table of Contents alert Volume 59 Issue 4

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Journal of Human Genetics
TABLE OF CONTENTS

Volume 59, Issue 4 (April 2014)

In this issue
Commentaries
Original Articles
Short Communication
Corrigendum

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Commentaries

Top

A commentary on molecular basis of transfusion dependent beta-thalassemia major patients in Sabah

Iswari Setianingsih

J Hum Genet 2014 59: 173; advance online publication, February 6, 2014; 10.1038/jhg.2013.142

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A commentary on types of DNA methylation status of the interspersed repetitive sequences for LINE-1, Alu, HERV-E and HERV-K in the neutrophils from systemic lupus erythematosus patients and healthy controls

Wesley Brooks

J Hum Genet 2014 59: 174-175; advance online publication, February 6, 2014; 10.1038/jhg.2014.8

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A commentary on concurrent MCL1 and JUN amplification in pseudomyxoma peritonei: a comprehensive genetic profiling and survival analysis

Terence C Chua and David L Morris

J Hum Genet 2014 59: 176-177; advance online publication, February 20, 2014; 10.1038/jhg.2014.11

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Original Articles

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Types of DNA methylation status of the interspersed repetitive sequences for LINE-1, Alu, HERV-E and HERV-K in the neutrophils from systemic lupus erythematosus patients and healthy controls

Patadon Sukapan, Paramate Promnarate, Yingyos Avihingsanon, Apiwat Mutirangura and Nattiya Hirankarn

J Hum Genet 2014 59: 178-188; advance online publication, January 16, 2014; 10.1038/jhg.2013.140

Abstract | Full Text

KIAA0319 and ROBO1: evidence on association with reading and pleiotropic effects on language and mathematics abilities in developmental dyslexia

Sara Mascheretti, Valentina Riva, Roberto Giorda, Silvana Beri, Lara Francesca Emilia Lanzoni, Maria Rosaria Cellino and Cecilia Marino

J Hum Genet 2014 59: 189-197; advance online publication, January 16, 2014; 10.1038/jhg.2013.141

Abstract | Full Text

A stepwise likelihood ratio test procedure for rare variant selection in case–control studies

Anthony YC Kuk, David J Nott and Yaning Yang

J Hum Genet 2014 59: 198-205; advance online publication, January 23, 2014; 10.1038/jhg.2014.1

Abstract | Full Text

p.Arg75Gln, a CFTR variant involved in the risk of CFTR-related disorders?

Brigitte Martinez, Marion Heller, Natacha Gaitch, Dominique Hubert, Pierre-Regis Burgel, Philippe Levy, Emmanuelle Girodon and Thierry Bienvenu

J Hum Genet 2014 59: 206-210; advance online publication, January 23, 2014; 10.1038/jhg.2014.2

Abstract | Full Text

Regulatory genomic regions active in immune cell types explain a large proportion of the genetic risk of multiple sclerosis

Ramyiadarsini I Elangovan, Giulio Disanto, Antonio J Berlanga-Taylor, Sreeram V Ramagopalan and Lahiru Handunnetthi

J Hum Genet 2014 59: 211-215; advance online publication, February 13, 2014; 10.1038/jhg.2014.3

Abstract | Full Text

Founder effect confirmation of c.241A>G mutation in the L2HGDH gene and characterization of oxidative stress parameters in six Tunisian families with L-2-hydroxyglutaric aciduria

Nadege Kammoun Jellouli, Ikhlass Hadj Salem, Emna Ellouz, Zeineb Kamoun, Fatma kamoun, Abdelaziz tlili, Naziha Kaabachi, Chanez Triki, Faiza Fakhfakh and Tunisian Network on Mental Retardation study

J Hum Genet 2014 59: 216-222; advance online publication, February 27, 2014; 10.1038/jhg.2014.4

Abstract | Full Text

Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease

Chitra Ankleshwaria, Mehul Mistri, Ashish Bavdekar, Mamta Muranjan, Usha Dave, Parag Tamhankar, Varun Khanna, Eresha Jasinge, Sheela Nampoothiri, Suresh Edayankara Kadangot, Frenny Sheth, Sarita Gupta and Jayesh Sheth

J Hum Genet 2014 59: 223-228; advance online publication, February 13, 2014; 10.1038/jhg.2014.5

Abstract | Full Text

Short Communication

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A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2

Junya Nakajima, Tuba F Eminoglu, Goksel Vatansever, Mitsuko Nakashima, Yoshinori Tsurusaki, Hirotomo Saitsu, Hisashi Kawashima, Naomichi Matsumoto and Noriko Miyake

J Hum Genet 2014 59: 229-232; advance online publication, January 16, 2014; 10.1038/jhg.2013.143

Abstract | Full Text

Corrigendum

Top

A commentary on molecular basis of transfusion dependent beta-thalassemia major patients in Sabah

Iswari Setianingsih

J Hum Genet 2014 59: 233; 10.1038/jhg.2014.22

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