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Showing results for ISSN matching 1434-5161

Genetic analysis of the cardiac sodium channel gene SCN5A in Koreans with Brugada syndrome

JOURNAL ARTICLE published October 2004 in Journal of Human Genetics

Authors: Dong-Jik Shin | Yangsoo Jang | Hyun-Young Park | Jong Eun Lee | Keumjin Yang | Eunmin Kim | Yoonjung Bae | Jongmin Kim | Jeongki Kim | Sung Soon Kim | Moon Hyoung Lee | Mohamed Chahine | Sungjoo Kim Yoon

https://doi.org/10.1007/s10038-004-0182-z 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

LETTER TO THE EDITOR

JOURNAL ARTICLE published December 2001 in Journal of Human Genetics

Authors: Per Ladenvall | Ulrika Wall | Sverker Jern | Christina Jern

https://doi.org/10.1007/pl00010919 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

Association between the GLUT1 gene polymorphism and the risk of diabetic nephropathy: a meta-analysis

JOURNAL ARTICLE published February 2005 in Journal of Human Genetics

Authors: Elias Zintzaras | Ioannis Stefanidis

https://doi.org/10.1007/s10038-004-0224-6 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

Association analysis of SLC22A4, SLC22A5 and DLG5 in Japanese patients with Crohn disease

JOURNAL ARTICLE published December 2004 in Journal of Human Genetics

Authors: Keiko Yamazaki | Masakazu Takazoe | Torao Tanaka | Toshiki Ichimori | Susumu Saito | Aritoshi Iida | Yoshihiro Onouchi | Akira Hata | Yusuke Nakamura

https://doi.org/10.1007/s10038-004-0204-x Actions

Paleolithic genetic link between Southern China and Mainland Southeast Asia revealed by ancient mitochondrial genomes

JOURNAL ARTICLE published December 2020 in Journal of Human Genetics

Research funded by National Natural Science Foundation of China (91731303,41925009,41630102) | Chinese Academy of Sciences (XDB26000000)

Authors: Fan Bai | Xinglong Zhang | Xueping Ji | Peng Cao | Xiaotian Feng | Ruowei Yang | Minsheng Peng | Shuwen Pei | Qiaomei Fu

https://doi.org/10.1038/s10038-020-0796-9 Actions

Genetic variants of FOXA2: risk of type 2 diabetes and effect on metabolic traits in North Indians

JOURNAL ARTICLE published December 2008 in Journal of Human Genetics

Authors: Rubina Tabassum | Sreenivas Chavali | Om Prakash Dwivedi | Nikhil Tandon | Dwaipayan Bharadwaj

https://doi.org/10.1007/s10038-008-0335-6 Actions

Association between polymorphism of the dopamine transporter gene and early smoking onset: an interaction risk on nicotine dependence

JOURNAL ARTICLE published January 2004 in Journal of Human Genetics

Authors: Daijun Ling | Tianhua Niu | Yan Feng | Houxun Xing | Xiping Xu

https://doi.org/10.1007/s10038-003-0104-5 Actions

Erratum: PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder

JOURNAL ARTICLE published May 2017 in Journal of Human Genetics

Authors: Takeshi Mizuguchi | Mitsuko Nakashima | Mitsuhiro Kato | Keitaro Yamada | Tohru Okanishi | Nina Ekhilevitch | Hanna Mandel | Ayelet Eran | Miyuki Toyono | Yukio Sawaishi | Hirotaka Motoi | Masaaki Shiina | Kazuhiro Ogata | Satoko Miyatake | Noriko Miyake | Hirotomo Saitsu | Naomichi Matsumoto

https://doi.org/10.1038/jhg.2017.13 Actions

Introduction of a CD40L genomic fragment via a human artificial chromosome vector permits cell-type-specific gene expression and induces immunoglobulin secretion

JOURNAL ARTICLE published May 2008 in Journal of Human Genetics

Authors: Hidetoshi Yamada | Yanze C. Li | Mitsuo Nishikawa | Mitsuo Oshimura | Toshiaki Inoue

https://doi.org/10.1007/s10038-008-0268-0 Actions
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