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Showing results for ISSN matching 1434-5161

Combined effect of longevity-associated mitochondrial DNA 5178 C/A polymorphism and coffee consumption on the risk of hyper-LDL cholesterolemia in middle-aged Japanese men

JOURNAL ARTICLE published September 2010 in Journal of Human Genetics

Authors: Akatsuki Kokaze | Mamoru Ishikawa | Naomi Matsunaga | Kanae Karita | Masao Yoshida | Naoki Shimada | Tadahiro Ohtsu | Takako Shirasawa | Hirotaka Ochiai | Teruyoshi Kawamoto | Taku Ito | Hiromi Hoshino | Yutaka Takashima

https://doi.org/10.1038/jhg.2010.71 Actions

Detection of inappropriate samples in association studies by an IBS-based method considering linkage disequilibrium between genetic markers

JOURNAL ARTICLE published July 2010 in Journal of Human Genetics

Authors: Masataka Andoh | Yasunori Sato | Hiromi Sakamoto | Teruhiko Yoshida | Megu Ohtaki

https://doi.org/10.1038/jhg.2010.43 Actions

A patient with a novel homozygous missense mutation in FTO and concomitant nonsense mutation in CETP

JOURNAL ARTICLE published May 2016 in Journal of Human Genetics

Authors: Ahmet O Çağlayan | Beyhan Tüysüz | Süleyman Coşkun | Jennifer Quon | Akdes S Harmancı | Jacob F Baranoski | Burçin Baran | E Zeynep Erson-Omay | Octavian Henegariu | Shrikant M Mane | Kaya Bilgüvar | Katsuhito Yasuno | Murat Günel

https://doi.org/10.1038/jhg.2015.160 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

Isolation and localization of an IDDMK1,2-22-related human endogenous retroviral gene, and identification of a CA repeat marker at its locus

JOURNAL ARTICLE published August 1999 in Journal of Human Genetics

Authors: Shiga Hasuike | Kiyonori Miura | Osamu Miyoshi | Toshinobu Miyamoto | Norio Niikawa | Y. Jinno | Mutuo Ishikawa

https://doi.org/10.1007/s100380050173 Actions

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

JOURNAL ARTICLE published November 2018 in Journal of Human Genetics

Authors: Kun Wang | Sen Zhao | Qianqian Zhang | Jian Yuan | Jiaqi Liu | Xinghuan Ding | Xiaofei Song | Jiachen Lin | Renqian Du | Yangzhong Zhou | Michihiko Sugimoto | Weisheng Chen | Bo Yuan | Jian Liu | Zihui Yan | Bowen Liu | Yisen Zhang | Xiaoxin Li | Yuchen Niu | Bo Long | Yiping Shen | Shuyang Zhang | Kuniya Abe | Jianzhong Su | Zhihong Wu | Nan Wu | Pengfei Liu | Xinjian Yang | Deciphering Disorders Involving Scoliosis & Comorbidities (DISCO) study

https://doi.org/10.1038/s10038-018-0496-x Actions

A novel splicing silencer generated by DMD exon 45 deletion junction could explain upstream exon 44 skipping that modifies dystrophinopathy

JOURNAL ARTICLE published August 2014 in Journal of Human Genetics

Authors: Ery Kus Dwianingsih | Rusdy Ghazali Malueka | Atsushi Nishida | Kyoko Itoh | Tomoko Lee | Mariko Yagi | Kazumoto Iijima | Yasuhiro Takeshima | Masafumi Matsuo

https://doi.org/10.1038/jhg.2014.36 Actions

Hypermethylation of OPRM1 promoter region in European Americans with alcohol dependence

JOURNAL ARTICLE published October 2012 in Journal of Human Genetics

Authors: Huiping Zhang | Aryeh I Herman | Henry R Kranzler | Raymond F Anton | Arthur A Simen | Joel Gelernter

https://doi.org/10.1038/jhg.2012.98 Actions

Diagnosis of Alexander disease in a Japanese patient by molecular genetic analysis

JOURNAL ARTICLE published October 2001 in Journal of Human Genetics

Authors: N. Shiroma | N. Kanazawa | M. Izumi | K. Sugai | M. Fukumizu | M. Sasaki | S. Hanaoka | M. Kaga | S. Tsujino

https://doi.org/10.1007/s100380170024 Actions

A novel (TG) n (GA) m repeat polymorphism 254 bp downstream of the mast cell chymase (CMA1) gene is associated with atopic asthma and total serum IgE levels

JOURNAL ARTICLE published June 2005 in Journal of Human Genetics

Authors: Shilpy Sharma | U. Mabali Rajan | Amrendra Kumar | Abha Soni | Balaram Ghosh

https://doi.org/10.1007/s10038-005-0252-x Actions

Implications of germline copy-number variations in psychiatric disorders: review of large-scale genetic studies

JOURNAL ARTICLE published January 2021 in Journal of Human Genetics

Research funded by Japan Agency for Medical Research and Development (JP20km0405216,JP20dm0107160,JP20ek0109411,JP20dm0107087,JP20dm0207075,JP20ak0101113,JP20dk0307075,JP20dk0307081) | MEXT | Japan Society for the Promotion of Science (17H05090,15K19720,18H04040)

Authors: Masahiro Nakatochi | Itaru Kushima | Norio Ozaki

https://doi.org/10.1038/s10038-020-00838-1 Actions

UBAP1 mutations cause juvenile-onset hereditary spastic paraplegias (SPG80) and impair UBAP1 targeting to endosomes

JOURNAL ARTICLE published November 2019 in Journal of Human Genetics

Research funded by Japan Agency for Medical Research and Development (JP18kk0205001h003)

Authors: Haitian Nan | Yuta Ichinose | Masaki Tanaka | Kishin Koh | Hiroyuki Ishiura | Jun Mitsui | Heisuke Mizukami | Masafumi Morimoto | Shun Hamada | Toshihisa Ohtsuka | Shoji Tsuji | Yoshihisa Takiyama

https://doi.org/10.1038/s10038-019-0670-9 Actions

Modeling colorectal cancer evolution

JOURNAL ARTICLE published September 2021 in Journal of Human Genetics

Authors: Atsushi Niida | Koshi Mimori | Tatsuhiro Shibata | Satoru Miyano

https://doi.org/10.1038/s10038-021-00930-0 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

Genomic imprinting and its relevance to congenital disease, infertility, molar pregnancy and induced pluripotent stem cell

JOURNAL ARTICLE published February 2012 in Journal of Human Genetics

Authors: Shin-ichi Tomizawa | Hiroyuki Sasaki

https://doi.org/10.1038/jhg.2011.151 Actions

Five linkage regions each harbor multiple type 2 diabetes genes in the African American subset of the GENNID Study

JOURNAL ARTICLE published June 2013 in Journal of Human Genetics

Authors: Sandra J Hasstedt | the American Diabetes Association GENNID Study Group | Heather M Highland | Steven C Elbein | Craig L Hanis | Swapan K Das

https://doi.org/10.1038/jhg.2013.21 Actions

Influence of CYP3A5 and drug transporter polymorphisms on imatinib trough concentration and clinical response among patients with chronic phase chronic myeloid leukemia

JOURNAL ARTICLE published November 2010 in Journal of Human Genetics

Authors: Naoto Takahashi | Masatomo Miura | Stuart A Scott | Hideaki Kagaya | Yoshihiro Kameoka | Hiroyuki Tagawa | Hirobumi Saitoh | Naohito Fujishima | Tomoko Yoshioka | Makoto Hirokawa | Kenichi Sawada

https://doi.org/10.1038/jhg.2010.98 Actions

Genome-wide analysis reveals a novel autosomal-recessive hearing loss locus DFNB80 on chromosome 2p16.1-p21

JOURNAL ARTICLE published February 2013 in Journal of Human Genetics

Authors: Mohamed Ali Mosrati | Isabelle Schrauwen | Mariem Ben Saiid | Mounira Aifa-Hmani | Erik Fransen | Malek Mneja | Abdelmonem Ghorbel | Guy Van Camp | Saber Masmoudi

https://doi.org/10.1038/jhg.2012.141 Actions

Methylenetetrahydrofolate reductase gene polymorphisms and lung cancer: a meta-analysis

JOURNAL ARTICLE published April 2008 in Journal of Human Genetics

Authors: Renfang Mao | Yihui Fan | Yan Jin | Jing Bai | Songbin Fu

https://doi.org/10.1007/s10038-008-0262-6 Actions

Extracellular matrix remodeling genes polymorphisms and risk of chronic bronchitis and recurrent pneumonia in children

JOURNAL ARTICLE published July 2013 in Journal of Human Genetics

Authors: Gulnaz Faritovna Korytina | Leysan Zinurovna Akhmadishina | Elena Vitalievna Viktorova | Olga Sergeevna Tselousova | Ksenia Vladimirovna Danilko | Olga Vladimirovna Kochetova | Tatyana Victorovna Viktorova

https://doi.org/10.1038/jhg.2013.24 Actions
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