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Showing results for ISSN matching 1434-5161

Study of structural chromosome abnormalities to increase the understanding of human genetic diversity: a commentary on signature of backward replication slippage at the copy number variation junction

JOURNAL ARTICLE published November 2014 in Journal of Human Genetics

Authors: Keiko Wakui

https://doi.org/10.1038/jhg.2014.83 Actions

Erratum: New native South American Y chromosome lineages

JOURNAL ARTICLE published July 2016 in Journal of Human Genetics

Authors: Marilza S Jota | The Genographic Consortium | Daniela R Lacerda | José R Sandoval | Pedro Paulo R Vieira | Dominique Ohasi | José E Santos-Júnior | Oscar Acosta | Cinthia Cuellar | Susana Revollo | Cesar Paz-y-Miño | Ricardo Fujita | Gustavo A Vallejo | Theodore G Schurr | Eduardo M Tarazona-Santos | Sergio DJ Pena | Qasim Ayub | Chris Tyler-Smith | Fabrício R Santos

https://doi.org/10.1038/jhg.2016.43 Actions

A survey of the population genetic variation in the human kinome

JOURNAL ARTICLE published August 2009 in Journal of Human Genetics

Authors: Wei Zhang | Daniel V T Catenacci | Shiwei Duan | Mark J Ratain

https://doi.org/10.1038/jhg.2009.72 Actions

A commentary on Implication of gene copy number variation in health and diseases

JOURNAL ARTICLE published February 2012 in Journal of Human Genetics

Authors: Tadashi Kaname

https://doi.org/10.1038/jhg.2011.140 Actions

Novel autosomal recessive non-syndromic hearing impairment locus (DFNB71) maps to chromosome 8p22–21.3

JOURNAL ARTICLE published March 2009 in Journal of Human Genetics

Authors: Muhammad Salman Chishti | Kwanghyuk Lee | Merry-Lynn McDonald | Muhammad Jawad Hassan | Muhammad Ansar | Wasim Ahmad | Suzanne M Leal

https://doi.org/10.1038/jhg.2009.2 Actions

Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome

JOURNAL ARTICLE published May 2019 in Journal of Human Genetics

Research funded by Japan Agency for Medical Research and Development (18gk0110012h0101)

Authors: Hitomi Shimizu | Satoshi Watanabe | Akira Kinoshita | Hiroyuki Mishima | Gen Nishimura | Hiroyuki Moriuchi | Koh-ichiro Yoshiura | Sumito Dateki

https://doi.org/10.1038/s10038-019-0581-9 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

IDDCA syndrome in a Chinese infant due to GNB5 biallelic mutations

JOURNAL ARTICLE published July 2020 in Journal of Human Genetics

Authors: Mingxing Tang | Yajian Wang | Yuanyuan Xu | Wenjia Tong | Danqun Jin | Xiu-An Yang

https://doi.org/10.1038/s10038-020-0742-x Actions

Correction: Importance of gastric cancer for the diagnosis and surveillance of Japanese Lynch syndrome patients

JOURNAL ARTICLE published July 2020 in Journal of Human Genetics

Authors: Tsuneo Ikenoue | The Japanese society for cancer of the colon and rectum (JSCCR) | Masami Arai | Chikashi Ishioka | Takeo Iwama | Satoshi Kaneko | Nagahide Matsubara | Yoshihiro Moriya | Tadashi Nomizu | Kokichi Sugano | Kazuo Tamura | Naohiro Tomita | Teruhiko Yoshida | Kenichi Sugihara | Hiromu Naruse | Kiyoshi Yamaguchi | Masanori Nojima | Yusuke Nakamura | Yoichi Furukawa

https://doi.org/10.1038/s10038-020-0747-5 Actions

Y chromosome analysis for common surnames in the Japanese male population

JOURNAL ARTICLE published July 2021 in Journal of Human Genetics

Authors: Eriko Ochiai | Motoki Osawa | Shiori Satoh | Tomonori Tamura | Masato Nakatome | Yu Kaneko | Yu Kakimoto | Kiyoshi Minaguchi

https://doi.org/10.1038/s10038-020-00884-9 Actions

Adrenoleukodystrophy siblings with a novel ABCD1 missense variant presenting with phenotypic differences: a case report and literature review

JOURNAL ARTICLE published May 2021 in Journal of Human Genetics

Authors: Yuka Shibata | Masaaki Matsushima | Takashi Matsukawa | Hiroyuki Ishiura | Shoji Tsuji | Ichiro Yabe

https://doi.org/10.1038/s10038-020-00866-x Actions

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

JOURNAL ARTICLE published November 2018 in Journal of Human Genetics

Authors: Yuko Hirai | Asao Noda | Yoshiaki Kodama | Kismet A. Cordova | Harry M. Cullings | Shuji Yonehara | Megumu Fujihara | Shin-ichi Moriwaki | Chikako Nishigori | Kiyohiko Mabuchi | Kenneth H. Kraemer | Nori Nakamura

https://doi.org/10.1038/s10038-018-0495-y Actions

Correction: Maternal age-specific risk for trisomy 21 based on the clinical performance of NIPT and empirically derived NIPT age-specific positive and negative predictive values in Japan

JOURNAL ARTICLE published October 2018 in Journal of Human Genetics

Authors: Takahiro Yamada | Japan NIPT consortium* | Akihiko Sekizawa | Yosuke Fujii | Tatsuko Hirose | Osamu Samura | Nobuhiro Suzumori | Kiyonori Miura | Hideaki Sawai | Fumiki Hirahara | Jun Murotsuki | Yoshimasa Kamei | Haruhiko Sago

https://doi.org/10.1038/s10038-018-0486-z Actions

Locus and allelic heterogeneity in five families with hereditary spastic paraplegia

JOURNAL ARTICLE published January 2019 in Journal of Human Genetics

Research funded by Foundation for the National Institutes of Health (1R21NS094047-01)

Authors: Malavika Hebbar | Anju Shukla | Sheela Nampoothiri | Stephanie Bielas | Katta M Girisha

https://doi.org/10.1038/s10038-018-0523-y Actions

Identification of novel genetic variants for type 2 diabetes, childhood obesity, and their pleiotropic loci

JOURNAL ARTICLE published May 2019 in Journal of Human Genetics

Research funded by U.S. Department of Health & Human Services | National Institutes of Health (R01AR050496,R01AR057049,R01AR059781)

Authors: Chun-Ping Zeng | Xu Lin | Cheng Peng | Lin Zhou | Hui-Min You | Jie Shen | Hong-Wen Deng

https://doi.org/10.1038/s10038-019-0577-5 Actions

Leucine-485 deletion variant of BRAF may exhibit the severe end of the clinical spectrum of CFC syndrome

JOURNAL ARTICLE published May 2019 in Journal of Human Genetics

Authors: Sato Suzuki-Muromoto | Takuya Miyabayashi | Koki Nagai | Saeko Yamamura-Suzuki | Mai Anzai | Yusuke Takezawa | Ryo Sato | Yukimune Okubo | Wakaba Endo | Takehiko Inui | Noriko Togashi | Atsuo Kikuchi | Tetsuya Niihori | Yoko Aoki | Shigeo Kure | Kazuhiro Haginoya

https://doi.org/10.1038/s10038-019-0579-3 Actions

Gene association detection via local linear regression method

JOURNAL ARTICLE published February 2020 in Journal of Human Genetics

Authors: Jinli He | Weijun Ma | Ying Zhou

https://doi.org/10.1038/s10038-019-0676-3 Actions

Correction to: Investigation of novel variations of ORAI1 gene and their association with Kawasaki disease

JOURNAL ARTICLE published October 2019 in Journal of Human Genetics

Authors: Kyaw Thiha | Japan Kawasaki Disease Genome Consortium | Yoichi Mashimo | Hiroyuki Suzuki | Hiromichi Hamada | Akira Hata | Toshiro Hara | Toshihiro Tanaka | Kaoru Ito | Yoshihiro Onouchi

https://doi.org/10.1038/s10038-019-0645-x Actions

Expression QTL analysis of glaucoma endophenotypes in the Norfolk Island isolate provides evidence that immune-related genes are associated with optic disc size

JOURNAL ARTICLE published January 2018 in Journal of Human Genetics

Authors: Pik Fang Kho | Rodney A. Lea | Miles C. Benton | David Eccles | Larisa M. Haupt | Alex W. Hewitt | Justin C. Sherwin | David A. Mackey | Lyn R. Griffiths

https://doi.org/10.1038/s10038-017-0374-y Actions

Exome sequencing revealed a novel nonsense variant in ALX3 gene underlying frontorhiny

JOURNAL ARTICLE published January 2018 in Journal of Human Genetics

Authors: Asmat Ullah | Muhammad Umair | Umm e-Kalsoom | Shaheen Shahzad | Sulman Basit | Wasim Ahmad

https://doi.org/10.1038/s10038-017-0358-y Actions
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