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Showing results for ISSN matching 1434-5161

Novel compound heterozygous mutation and phenotype in the tetratricopeptide repeat-like domain of the GEMIN5 gene in two Chinese families

JOURNAL ARTICLE published November 2023 in Journal of Human Genetics

Authors: Xin Zhang | Yanzhao Guo | Lu Xu | Yilong Wang | Guoxia Sheng | Feng Gao | Zhefeng Yuan

https://doi.org/10.1038/s10038-023-01184-8 Actions

The genomic landscape of human immune-mediated diseases

JOURNAL ARTICLE published November 2015 in Journal of Human Genetics

Authors: Xin Wu | Haiyan Chen | Huji Xu

https://doi.org/10.1038/jhg.2015.99 Actions

Dynamin 2 gene is a novel susceptibility gene for late-onset Alzheimer disease in non-APOE-ε4 carriers

JOURNAL ARTICLE published April 2008 in Journal of Human Genetics

Authors: Nuripa Jenishbekovna Aidaralieva | Kouzin Kamino | Ryo Kimura | Mitsuko Yamamoto | Takeshi Morihara | Hiroaki Kazui | Ryota Hashimoto | Toshihisa Tanaka | Takashi Kudo | Tomoyuki Kida | Jun-Ichiro Okuda | Takeshi Uema | Hidehisa Yamagata | Tetsuro Miki | Hiroyasu Akatsu | Kenji Kosaka | Masatoshi Takeda

https://doi.org/10.1007/s10038-008-0251-9 Actions

A novel nonsense PKD1L1 variant cause heterotaxy syndrome with congenital asplenia in a Han Chinese patient

JOURNAL ARTICLE published October 2022 in Journal of Human Genetics

Authors: Heng Gu | Zhuang-Zhuang Yuan | Xiao-Hui Xie | Yi-Feng Yang | Zhi-Ping Tan

https://doi.org/10.1038/s10038-022-01053-w Actions

Single-nucleotide polymorphisms in the promoter of the CDK5 gene and lung cancer risk in a Korean population

JOURNAL ARTICLE published May 2009 in Journal of Human Genetics

Authors: Hyo Seon Choi | Youngin Lee | Kyong Hwa Park | Jae Sook Sung | Jong-Eun Lee | Eun-Soon Shin | Jeong-Seon Ryu | Yeul Hong Kim

https://doi.org/10.1038/jhg.2009.29 Actions

Correction: A novel NDUFS3 mutation in a Chinese patient with severe Leigh syndrome

JOURNAL ARTICLE published December 2018 in Journal of Human Genetics

Authors: Xiaoting Lou | Hao Shi | Shumeng Wen | Yuanyuan Li | Xiujuan Wei | Jie Xie | Lin Ma | Yanling Yang | Hezhi Fang | Jianxin Lyu

https://doi.org/10.1038/s10038-018-0517-9 Actions

Complete genome sequencing and variant analysis of a Pakistani individual

JOURNAL ARTICLE published September 2013 in Journal of Human Genetics

Authors: Muhammad Kamran Azim | Chuanchun Yang | Zhixiang Yan | Muhammad Iqbal Choudhary | Asifullah Khan | Xiao Sun | Ran Li | Huma Asif | Sana Sharif | Yong Zhang

https://doi.org/10.1038/jhg.2013.72 Actions

Structural study on mutant α-l-iduronidases: insight into mucopolysaccharidosis type I

JOURNAL ARTICLE published May 2008 in Journal of Human Genetics

Authors: Kanako Sugawara | Seiji Saito | Kazuki Ohno | Torayuki Okuyama | Hitoshi Sakuraba

https://doi.org/10.1007/s10038-008-0272-4 Actions

Identification of seven novel cryptic exons embedded in the dystrophin gene and characterization of 14 cryptic dystrophin exons

JOURNAL ARTICLE published July 2007 in Journal of Human Genetics

Authors: Zhujun Zhang | Yasuaki Habara | Atsushi Nishiyama | Yoshinobu Oyazato | Mariko Yagi | Yasuhiro Takeshima | Masafumi Matsuo

https://doi.org/10.1007/s10038-007-0163-0 Actions

Identification of two novel RECQL4 exonic SNPs and genomic characterization of the IVS12 minisatellite

JOURNAL ARTICLE published February 2003 in Journal of Human Genetics

Authors: G. Roversi | A. Beghini | G. Zambruno | M. Paradisi | L. Larizza

https://doi.org/10.1007/s100380300016 Actions

Biochemical data in ornithine transcarbamylase deficiency (OTCD) carrier risk estimation: logistic discrimination and combination with genetic information

JOURNAL ARTICLE published March 2006 in Journal of Human Genetics

Authors: Konrad Oexle

https://doi.org/10.1007/s10038-005-0345-6 Actions

Cluster analysis and association study of structured multilocus genotype data

JOURNAL ARTICLE published February 2005 in Journal of Human Genetics

Authors: Takahiro Nakamura | Akira Shoji | Hironori Fujisawa | Naoyuki Kamatani

https://doi.org/10.1007/s10038-004-0220-x Actions

Genetic variants in the calpain-10 gene and the development of type 2 diabetes in the Japanese population

JOURNAL ARTICLE published February 2005 in Journal of Human Genetics

Authors: Naoko Iwasaki | Yukio Horikawa | Takafumi Tsuchiya | Yutaka Kitamura | Takahiro Nakamura | Yukio Tanizawa | Yoshitomo Oka | Kazuo Hara | Takashi Kadowaki | Takuya Awata | Masashi Honda | Katsuko Yamashita | Naohisa Oda | Li Yu | Norihiro Yamada | Makiko Ogata | Naoyuki Kamatani | Yasuhiko Iwamoto | Laura del Bosque-Plata | M. Geoffrey Hayes | Nancy J. Cox | Graeme I. Bell

https://doi.org/10.1007/s10038-004-0225-5 Actions

A new acro-osteolysis syndrome caused by duplications including PTHLH

JOURNAL ARTICLE published September 2014 in Journal of Human Genetics

Authors: Mary J Gray | Margriet van Kogelenberg | Rachel Beddow | Tim Morgan | Paul Wordsworth | Deborah J Shears | Stephen P Robertson | Jane A Hurst

https://doi.org/10.1038/jhg.2014.58 Actions

Analyses of 5′ regulatory region polymorphisms in human SLC22A6 (OAT1) and SLC22A8 (OAT3)

JOURNAL ARTICLE published June 2006 in Journal of Human Genetics

Authors: Vibha Bhatnagar | Gang Xu | Bruce A. Hamilton | David M. Truong | Satish A. Eraly | Wei Wu | Sanjay K. Nigam

https://doi.org/10.1007/s10038-006-0398-1 Actions

Atypical hemolytic uremic syndrome and genetic aberrations in the complement factor H-related 5 gene

JOURNAL ARTICLE published July 2012 in Journal of Human Genetics

Authors: Dineke Westra | Katherine A Vernon | Elena B Volokhina | Matthew C Pickering | Nicole C A J van de Kar | Lambert P van den Heuvel

https://doi.org/10.1038/jhg.2012.57 Actions

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

JOURNAL ARTICLE published April 2018 in Journal of Human Genetics

Authors: Robert Smigiel | Anna Biernacka | Mateusz Biela | Victor Murcia-Pienkowski | Elzbieta Szmida | Piotr Gasperowicz | Joanna Kosinska | Grazyna Kostrzewa | Agnieszka Anna Koppolu | Anna Walczak | Dominik Wawrzuta | Malgorzata Rydzanicz | Malgorzata Sasiadek | Rafal Ploski

https://doi.org/10.1038/s10038-017-0391-x Actions

Establishment of a standardized system to perform population structure analyses with limited sample size or with different sets of SNP genotypes

JOURNAL ARTICLE published August 2010 in Journal of Human Genetics

Authors: Natsuhiko Kumasaka | Yumi Yamaguchi-Kabata | Atsushi Takahashi | Michiaki Kubo | Yusuke Nakamura | Naoyuki Kamatani

https://doi.org/10.1038/jhg.2010.63 Actions

Whole-exome sequencing identifies a novel CCDC151 mutation, c.325G>T (p.E109X), in a patient with primary ciliary dyskinesia and situs inversus

JOURNAL ARTICLE published March 2019 in Journal of Human Genetics

Authors: Weizhi Zhang | Dongping Li | Shijie Wei | Ting Guo | Jian Wang | Hong Luo | Yifeng Yang | Zhiping Tan

https://doi.org/10.1038/s10038-018-0540-x Actions

CCND2 polymorphisms associated with clearance of HBV Infection

JOURNAL ARTICLE published July 2010 in Journal of Human Genetics

Authors: Tae Joon Park | Ji-Yong Chun | Joon Seol Bae | Byung Lae Park | Hyun Sub Cheong | Hyo Suk Lee | Yoon Jun Kim | Hyoung Doo Shin

https://doi.org/10.1038/jhg.2010.36 Actions
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