We bring you the latest news from the healthcare about the health care in the United Kingdom.

maandag 26 maart 2018

Journal of Human Genetics - Table of Contents alert Volume 63 Issue 4

If you are unable to see the message below, click here to view.
Journal of Human Genetics
 
TABLE OF CONTENTS

Volume 63, Issue 4

In this issue
Editorial
Article
Brief Communication
Correspondence
Correction
Also new
AOP
 

Editorial

A message for 2018

Naomichi Matsumoto

Journal of Human Genetics 2018 63 :393 - 396; March 26, 2018; 10.1038/s10038-018-0417-z

 

Abstract | Full Text

Article

Association of CDKAL1 nucleotide variants with the risk of non-syndromic cleft lip with or without cleft palate

Agnieszka Gaczkowska, Kacper Zukowski, Barbara Biedziak, Kamil K. Hozyasz, Piotr Wójcicki et al.

Journal of Human Genetics 2018 63 :397 - 406; February 05, 2018; 10.1038/s10038-017-0397-4

 

Abstract | Full Text

Systematic assessment of the performance of whole-genome amplification for SNP/CNV detection and ß-thalassemia genotyping

Fei He, Wanjun Zhou, Ren Cai, Tizhen Yan & Xiangmin Xu

Journal of Human Genetics 2018 63 :407 - 416; February 13, 2018; 10.1038/s10038-018-0411-5

 

Abstract | Full Text

Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutations

Hiroshi Doi, Shigeru Koyano, Satoko Miyatake, Shinji Nakajima, Yuka Nakazawa et al.

Journal of Human Genetics 2018 63 :417 - 423; February 05, 2018; 10.1038/s10038-017-0408-5

 

Abstract | Full Text

A homozygous NOP14 variant is likely to cause recurrent pregnancy loss

Toshifumi Suzuki, Mahdiyeh Behnam, Firooze Ronasian, Mansoor Salehi, Masaaki Shiina et al.

Journal of Human Genetics 2018 63 :425 - 430; February 13, 2018; 10.1038/s10038-018-0410-6

 

Abstract | Full Text

A systematic analysis highlights multiple long non-coding RNAs associated with cardiometabolic disorders

Mohsen Ghanbari, Marjolein J. Peters, Paul S. de Vries, Cindy G. Boer, Jeroen G. J. van Rooij et al.

Journal of Human Genetics 2018 63 :431 - 446; January 30, 2018; 10.1038/s10038-017-0403-x

 

Abstract | Full Text

Genetic and clinical characteristics in Japanese hereditary breast and ovarian cancer: first report after establishment of HBOC registration system in Japan

Masami Arai, Shiro Yokoyama, Chie Watanabe, Reiko Yoshida, Mizuho Kita et al.

Journal of Human Genetics 2017 63 :447 - 457; November 08, 2017; 10.1038/s10038-017-0355-1

 

Abstract | Full Text

DNA methylation of TOMM40-APOE-APOC2 in Alzheimer’s disease

Yvonne Shao, McKenzie Shaw, Kaitlin Todd, Maria Khrestian, Giana D’Aleo et al.

Journal of Human Genetics 2018 63 :459 - 471; January 25, 2018; 10.1038/s10038-017-0393-8

 

Abstract | Full Text

Clinical and molecular characteristics of newly reported mitochondrial disease entity caused by biallelic PARS2 mutations

Elzbieta Ciara, Dariusz Rokicki, Michal Lazniewski, Hanna Mierzewska, Elzbieta Jurkiewicz et al.

Journal of Human Genetics 2018 63 :473 - 485; February 06, 2018; 10.1038/s10038-017-0401-z

 

Abstract | Full Text

A novel homozygous DPH1 mutation causes intellectual disability and unique craniofacial features

Futoshi Sekiguchi, Jafar Nasiri, Maryam Sedghi, Mansoor Salehi, Majid Hosseinzadeh et al.

Journal of Human Genetics 2018 63 :487 - 491; February 06, 2018; 10.1038/s10038-017-0404-9

 

Abstract | Full Text

Genetic variation in populations from central Argentina based on mitochondrial and Y chromosome DNA evidence

Angelina García, Maia Pauro, Graciela Bailliet, Claudio M. Bravi & Darío A. Demarchi

Journal of Human Genetics 2018 63 :493 - 507; January 29, 2018; 10.1038/s10038-017-0406-7

 

Abstract | Full Text

Genetic cluster of fragile X syndrome in a Colombian district

Wilmar Saldarriaga, Jose Vicente Forero-Forero, Laura Yuriko González-Teshima, Andrés Fandiño-Losada, Carolina Isaza et al.

Journal of Human Genetics 2018 63 :509 - 516; January 29, 2018; 10.1038/s10038-017-0407-6

 

Abstract | Full Text

Brief Communication

Novel de novo mutation affecting two adjacent aminoacids in the EED gene in a patient with Weaver syndrome

Robert Smigiel, Anna Biernacka, Mateusz Biela, Victor Murcia-Pienkowski, Elzbieta Szmida et al.

Journal of Human Genetics 2018 63 :517 - 520; February 06, 2018; 10.1038/s10038-017-0391-x

 

Abstract | Full Text

Identification of IFRD1 variant in a Han Chinese family with autosomal dominant hereditary spastic paraplegia associated with peripheral neuropathy and ataxia

Pengfei Lin, Dong Zhang, Guangrun Xu & Chuanzhu Yan

Journal of Human Genetics 2018 63 :521 - 524; January 23, 2018; 10.1038/s10038-017-0394-7

 

Abstract | Full Text

Mitochondrial involvement in a Bosch-Boonstra-Schaaf optic atrophy syndrome patient with a novel de novo NR2F1 gene mutation

Elena Martín-Hernández, María Elena Rodríguez-García, Chun-An Chen, Francisco Javier Cotrina-Vinagre, Patricia Carnicero-Rodríguez et al.

Journal of Human Genetics 2018 63 :525 - 528; February 06, 2018; 10.1038/s10038-017-0398-3

 

Abstract | Full Text

Novel compound heterozygous DPH1 mutations in a patient with the unique clinical features of airway obstruction and external genital abnormalities

Junya Nakajima, Shingo Oana, Tomohiro Sakaguchi, Mitsuko Nakashima, Hironao Numabe et al.

Journal of Human Genetics 2018 63 :529 - 532; January 23, 2018; 10.1038/s10038-017-0399-2

 

Abstract | Full Text

Correspondence

A 1000 Arab genome project to study the Emirati population

Mariam Al-Ali, Wael Osman, Guan K. Tay & Habiba S. AlSafar

Journal of Human Genetics 2018 63 :533 - 536; February 06, 2018; 10.1038/s10038-017-0402-y

 

Abstract | Full Text

The inclusion of genomic data in the 2015 revision of Japan’s Protection of Personal Information Act: protection of wider range of genomic data as our next challenge

Natsuko Yamamoto, Takanori Fujita, Minae Kawashima, Joshua Wittig, Masatomo Suzuki et al.

Journal of Human Genetics 2018 63 :537 - 538; January 29, 2018; 10.1038/s10038-017-0409-4

 

Abstract | Full Text

Correction

Correction: Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features

Iris H. I. M. Hollink, Majid Alfadhel, Anwar S. Al-Wakeel, Farough Ababneh, Rolph Pfundt et al.

Journal of Human Genetics 2018 63 :539 - 539; March 08, 2018; 10.1038/s10038-017-0373-z

 

Abstract | Full Text

Correction: Genetic and clinical characteristics in Japanese hereditary breast and ovarian cancer: first report after establishment of HBOC registration system in Japan

Masami Arai, Shiro Yokoyama, Chie Watanabe, Reiko Yoshida, Mizuho Kita et al.

Journal of Human Genetics 2018 63 :541 - 542; January 31, 2018; 10.1038/s10038-017-0395-6

 

Abstract | Full Text

nature events
Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. The contents of the Natureevents Directory are now live. The digital version is available here.

Find the latest scientific conferences, courses, meetings and symposia on natureevents.com. For event advertising opportunities across the Nature Publishing Group portfolio please contact natureevents@nature.com
More Nature Events

Please note that you need to be a subscriber or site-licence holder to enjoy full-text access to Journal of Human Genetics. In order to do so, please purchase a subscription.

You have been sent this Table of Contents Alert because you have opted in to receive it. You can change or discontinue your e-mail alerts at any time, by modifying your preferences on your nature.com account at: www.nature.com/nams/svc/myaccount (You will need to log in to be recognised as a nature.com registrant).

For further technical assistance, please contact our registration department.

For print subscription enquiries, please contact our subscription department.

For other enquiries, please contact our customer feedback department.

Springer Nature |One New York Plaza, Suite 4500 | New York | NY 10004-1562 | USA

Springer Nature's worldwide offices:
London - Paris - Munich - New Delhi - Tokyo - Melbourne
San Diego - San Francisco - Washington - New York - Boston

Macmillan Publishers Limited is a company incorporated in England and Wales under company number 785998 and whose registered office is located at The Campus, 4 Crinan Street, London, N1 9XW.

© 2018 Macmillan Publishers Limited, part of Springer Nature. All Rights Reserved.

Springer Nature