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Showing results for ISSN matching 1434-5161

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

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

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

TECTA mutations in Japanese with mid-frequency hearing loss affected by zona pellucida domain protein secretion

JOURNAL ARTICLE published September 2012 in Journal of Human Genetics

Authors: Hideaki Moteki | Shin-ya Nishio | Shigenari Hashimoto | Yutaka Takumi | Satoshi Iwasaki | Norihito Takeichi | Satoshi Fukuda | Shin-ichi Usami

https://doi.org/10.1038/jhg.2012.73 Actions

Imputation approach for deducing a complete mitogenome sequence from low-depth-coverage next-generation sequencing data: application to ancient remains from the Moon Pyramid, Mexico

JOURNAL ARTICLE published June 2017 in Journal of Human Genetics

Authors: Fuzuki Mizuno | Masahiko Kumagai | Kunihiko Kurosaki | Michiko Hayashi | Saburo Sugiyama | Shintaroh Ueda | Li Wang

https://doi.org/10.1038/jhg.2017.14 Actions

A novel 111/121 diplotype in the Calpain-10 gene is associated with type 2 diabetes

JOURNAL ARTICLE published July 2006 in Journal of Human Genetics

Authors: Eun Seok Kang | Hye Joo Kim | Moonsuk Nam | Chung Mo Nam | Chul Woo Ahn | Bong Soo Cha | Hyun Chul Lee

https://doi.org/10.1007/s10038-006-0410-9 Actions

Effects of a polymorphism in the GFAP promoter on the age of onset and ambulatory disability in late-onset Alexander disease

JOURNAL ARTICLE published September 2013 in Journal of Human Genetics

Authors: Tomokatsu Yoshida | Ikuko Mizuta | Kozo Saito | Ryo Ohara | Hiroshi Kurisaki | Keiko Ohnari | Yuichi Riku | Yuichi Hayashi | Hidekazu Suzuki | Hiroaki Shii | Yasuhiro Fujiwara | Tadahiro Yonezu | Akiko Nagaishi | Masanori Nakagawa

https://doi.org/10.1038/jhg.2013.83 Actions

Detecting disease association with rare variants in case-parents studies

JOURNAL ARTICLE published May 2017 in Journal of Human Genetics

Authors: Yu-Mei Li | Yang Xiang

https://doi.org/10.1038/jhg.2017.1 Actions

A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxa

JOURNAL ARTICLE published February 2017 in Journal of Human Genetics

Authors: Mohammed Al-Bughaili | Teresa M Neuhann | Ricarda Flöttmann | Stefan Mundlos | Malte Spielmann | Uwe Kornak | Björn Fischer-Zirnsak

https://doi.org/10.1038/jhg.2016.111 Actions

The apolipoprotein CIII T2854G variants are associated with postprandial triacylglycerol concentrations in normolipidemic Korean men

JOURNAL ARTICLE published November 2003 in Journal of Human Genetics

Authors: Sang-Koo Woo | Hyun-Sik Kang

https://doi.org/10.1007/s10038-003-0074-7 Actions

Survey of motivation to participate in a birth cohort

JOURNAL ARTICLE published September 2016 in Journal of Human Genetics

Authors: Midori Yamamoto | Misuzu Fujita | Chisato Mori | Akira Hata

https://doi.org/10.1038/jhg.2016.60 Actions

Precise mapping of 17 deletion breakpoints within the central hotspot deletion region (introns 50 and 51) of the DMD gene

JOURNAL ARTICLE published December 2017 in Journal of Human Genetics

Authors: Gabriella Esposito | Maria Roberta Tremolaterra | Evelina Marsocci | Igor CM Tandurella | Tiziana Fioretti | Maria Savarese | Antonella Carsana

https://doi.org/10.1038/jhg.2017.84 Actions

Transduction of fibroblasts and CD34+ progenitors using a selectable retroviral vector containing cDNAs encoding arylsulfatase A and CD24

JOURNAL ARTICLE published January 2000 in Journal of Human Genetics

Authors: Arisa Tsutsuda-Asano | Makoto Migita | Kumi Takahashi | Takashi Shimada

https://doi.org/10.1007/s100380050004 Actions

A rapid and simple method for sex identification by heteroduplex analysis, using denaturing high-performance liquid chromatography (DHPLC)

JOURNAL ARTICLE published April 2001 in Journal of Human Genetics

Authors: T. Shinka | T. Naroda | T. Tamura | K. Sasahara | Y. Nakahori

https://doi.org/10.1007/s100380170076 Actions

X-chromosome inactivation in the human trophoblast of early pregnancy

JOURNAL ARTICLE published May 2000 in Journal of Human Genetics

Authors: S. Uehara | M. Tamura | M. Nata | G. Ji | N. Yaegashi | K. Okamura | A. Yajima

https://doi.org/10.1007/s100380050197 Actions

Association of an intronic haplotype of the LIPC gene with hyperalphalipoproteinemia in two independent populations

JOURNAL ARTICLE published March 2008 in Journal of Human Genetics

Authors: Hiroshi Iijima | Mitsuru Emi | Manabu Wada | Makoto Daimon | Sayumi Toriyama | Satoru Koyano | Hidenori Sato | Paul N. Hopkins | Steven C. Hunt | Isao Kubota | Sumio Kawata | Takeo Kato

https://doi.org/10.1007/s10038-007-0236-0 Actions

A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin

JOURNAL ARTICLE published June 2009 in Journal of Human Genetics

Authors: Steven F Dobrowolski | K Borski | C C Ellingson | R Koch | H L Levy | E W Naylor

https://doi.org/10.1038/jhg.2009.37 Actions

Genome-wide association study suggested copy number variation may be associated with body mass index in the Chinese population

JOURNAL ARTICLE published April 2009 in Journal of Human Genetics

Authors: Bao-Yong Sha | Tie-Lin Yang | Lan-Juan Zhao | Xiang-Ding Chen | Yan Guo | Yuan Chen | Feng Pan | Zhi-Xin Zhang | Shan-Shan Dong | Xiang-Hong Xu | Hong-Wen Deng

https://doi.org/10.1038/jhg.2009.10 Actions

Fetiform teratoma was a parthenogenetic tumor arising from a mature ovum

JOURNAL ARTICLE published September 2017 in Journal of Human Genetics

Authors: Kiyonori Miura | Takumi Kurabayashi | Chisei Satoh | Kensaku Sasaki | Tatsuya Ishiguro | Koh-ichiro Yoshiura | Hideaki Masuzaki

https://doi.org/10.1038/jhg.2017.45 Actions
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