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

donderdag 25 oktober 2018

Journal of Human Genetics - Table of Contents alert Volume 63 Issue 11

Journal of Human Genetics


Volume 63, Issue 11

In this issue
Brief Communication
Also new


Novel missense and 3′-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairment

Khurram Liaqat, Ilene Chiu, Kwanghyuk Lee, Imen Chakchouk, Paula B. Andrade-Elizondo et al.

Journal of Human Genetics 2018 63 :1099 - 1107; September 03, 2018; 10.1038/s10038-018-0502-3

Abstract | Full Text

Admixture mapping and fine-mapping of type 2 diabetes susceptibility loci in African American women

José M. Uribe-Salazar, Julie R. Palmer, Stephen A. Haddad, Lynn Rosenberg & Edward A. Ruiz-Narváez

Journal of Human Genetics 2018 63 :1109 - 1117; August 22, 2018; 10.1038/s10038-018-0503-2

Abstract | Full Text

Whole-exome sequencing reveals known and novel variants in a cohort of intracranial vertebral–basilar artery dissection (IVAD)

Kun Wang, Sen Zhao, Qianqian Zhang, Jian Yuan, Jiaqi Liu et al.

Journal of Human Genetics 2018 63 :1119 - 1128; August 16, 2018; 10.1038/s10038-018-0496-x

Abstract | Full Text

Identification of a de novo fetal variant in osteogenesis imperfecta by targeted sequencing-based noninvasive prenatal testing

Xiuju Yin, Yang Du, Han Zhang, Zhandong Wang, Juan Wang et al.

Journal of Human Genetics 2018 63 :1129 - 1137; August 21, 2018; 10.1038/s10038-018-0489-9

Abstract | Full Text

A comparison of genome cohort participants' genetic knowledge and preferences to receive genetic results before and after a genetics workshop

Kayono Yamamoto, Atsushi Shimizu, Fumie Aizawa, Hiroshi Kawame, Tomoharu Tokutomi et al.

Journal of Human Genetics 2018 63 :1139 - 1147; September 05, 2018; 10.1038/s10038-018-0494-z

Abstract | Full Text

Contribution of RAD51D germline mutations in breast and ovarian cancer in Greece

Irene Konstanta, Florentia Fostira, Paraskevi Apostolou, Efstratios Stratikos, Despoina Kalfakakou et al.

Journal of Human Genetics 2018 63 :1149 - 1158; August 15, 2018; 10.1038/s10038-018-0498-8

Abstract | Full Text

Gastric cancer may share genetic predisposition with esophageal squamous cell carcinoma in Chinese populations

Linhua Yao, Fei Yu, Yingying Mao, Tianpei Wang, Qi Qi et al.

Journal of Human Genetics 2018 63 :1159 - 1168; September 10, 2018; 10.1038/s10038-018-0501-4

Abstract | Full Text

Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing

Diana Matías-Pérez, Leopoldo A. García-Montaño, Marisa Cruz-Aguilar, Iván A. García-Montalvo, Jessica Nava-Valdéz et al.

Journal of Human Genetics 2018 63 :1169 - 1180; September 04, 2018; 10.1038/s10038-018-0504-1

Abstract | Full Text

Brief Communication

Increased risk of skin cancer in Japanese heterozygotes of xeroderma pigmentosum group A

Yuko Hirai, Asao Noda, Yoshiaki Kodama, Kismet A. Cordova, Harry M. Cullings et al.

Journal of Human Genetics 2018 63 :1181 - 1184; August 08, 2018; 10.1038/s10038-018-0495-y

Abstract | Full Text

Familial total anomalous pulmonary venous return with 15q11.2 (BP1-BP2) microdeletion

Yukiko Kuroda, Ikuko Ohashi, Takuya Naruto, Kazumi Ida, Yumi Enomoto et al.

Journal of Human Genetics 2018 63 :1185 - 1188; August 14, 2018; 10.1038/s10038-018-0499-7

Abstract | Full Text

Co-occurrence of mutations in FOXP1 and PTCH1 in a girl with extreme megalencephaly, callosal dysgenesis and profound intellectual disability

Melinda Zombor, Tibor Kalmár, Zoltán Maróti, Alíz Zimmermann, Adrienn Máté et al.

Journal of Human Genetics 2018 63 :1189 - 1193; September 04, 2018; 10.1038/s10038-018-0508-x

Abstract | Full Text


Correction: Nationwide survey for current clinical status of amniocentesis and maternal serum marker test in Japan

Hidehiko Miyake, Shigehito Yamada, Yosuke Fujii, Hideaki Sawai, Naoko Arimori et al.

Journal of Human Genetics 2018 63 :1195 - 1195; August 23, 2018; 10.1038/s10038-018-0500-5

Abstract | Full Text

Nature Briefing is an essential round-up of science news, opinion and analysis, free in your inbox every weekday. With Nature Briefing, we'll keep you updated on the latest research, so you can focus on yours.

Click here to sign up.
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.

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.

This email has been sent to dezorgsector.uk@gmail.com.

If you no longer wish to receive the email alerts from Journal of Human Genetics click here to unsubscribe .
If you wish to discontinue all email services from Nature Research please click here to unsubscribe .

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.

Macmillan Publishers Limited is a company incorporated in England & Wales under company number 785998 & whose registered office is located at The Campus, 4 Crinan Street, London, N1 9XW. Nature Research | One New York Plaza, Suite 4500 | New York | NY 10004-1562 | USA

Nature is part of Springer Nature. © 2018 Springer Nature Limited. All rights reserved.

Springer Nature