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Showing results for ISSN matching 1434-5161

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

Recontact: a survey of current practices and BRCA1/2 testing in Japan

JOURNAL ARTICLE published August 2023 in Journal of Human Genetics

Authors: Tomohiro Sakaguchi | Tomoharu Tokutomi | Akiko Yoshida | Kayono Yamamoto | Keiko Obata | Daniele Carrieri | Susan E. Kelly | Akimune Fukushima

https://doi.org/10.1038/s10038-023-01149-x Actions

Verification and rectification of cell type-specific splicing of a Seckel syndrome-associated ATR mutation using iPS cell model

JOURNAL ARTICLE published May 2019 in Journal of Human Genetics

Research funded by MEXT | Japan Society for the Promotion of Science (16673093,17J08574) | Japan Agency for Medical Research and Development (17935244)

Authors: Jose Ichisima | Naoya M. Suzuki | Bumpei Samata | Tomonari Awaya | Jun Takahashi | Masatoshi Hagiwara | Tatsutoshi Nakahata | Megumu K. Saito

https://doi.org/10.1038/s10038-019-0574-8 Actions

Genetics of congenital heart disease: the contribution of the noncoding regulatory genome

JOURNAL ARTICLE published January 2016 in Journal of Human Genetics

Authors: Alex V Postma | Connie R Bezzina | Vincent M Christoffels

https://doi.org/10.1038/jhg.2015.98 Actions

Molecular cloning and functional analysis of a factor that binds to the proximal promoter of human angiotensinogen

JOURNAL ARTICLE published January 2002 in Journal of Human Genetics

Authors: T. Nakajima | I. Inoue | T. Cheng | J.-M. Lalouel

https://doi.org/10.1007/s10038-002-8649-2 Actions

Deletions, not duplications or small mutations, are the predominante new mutations in the dystrophin gene

JOURNAL ARTICLE published October 2017 in Journal of Human Genetics

Authors: Janusz G Zimowski | Magdalena Pawelec | Joanna K Purzycka | Walentyna Szirkowiec | Jacek Zaremba

https://doi.org/10.1038/jhg.2017.70 Actions

Incidence and clinical importance of BCR-ABL1 mutations in Iranian patients with chronic myeloid leukemia on imatinib

JOURNAL ARTICLE published May 2015 in Journal of Human Genetics

Authors: Golale Rostami | Mohammad Hamid | Majid Yaran | Mohsen Khani | Morteza Karimipoor

https://doi.org/10.1038/jhg.2015.11 Actions

Siblings with optic neuropathy and RTN4IP1 mutation

JOURNAL ARTICLE published October 2017 in Journal of Human Genetics

Authors: Nobuhiko Okamoto | Fuyuki Miya | Yoshikazu Hatsukawa | Yasuhiro Suzuki | Kazumi Kawato | Yuto Yamamoto | Tatsuhiko Tsunoda | Mitsuhiro Kato | Shinji Saitoh | Mami Yamasaki | Yonehiro Kanemura | Kenjiro Kosaki

https://doi.org/10.1038/jhg.2017.68 Actions

A genome-wide CNV association study on panic disorder in a Japanese population

JOURNAL ARTICLE published December 2011 in Journal of Human Genetics

Authors: Yoshiya Kawamura | Takeshi Otowa | Asako Koike | Nagisa Sugaya | Eiji Yoshida | Shin Yasuda | Ken Inoue | Kunio Takei | Yoshiaki Konishi | Hisashi Tanii | Takafumi Shimada | Mamoru Tochigi | Chihiro Kakiuchi | Tadashi Umekage | Xiaoxi Liu | Nao Nishida | Katsushi Tokunaga | Ryozo Kuwano | Yuji Okazaki | Hisanobu Kaiya | Tsukasa Sasaki

https://doi.org/10.1038/jhg.2011.117 Actions

Five novel single-nucleotide polymorphisms of human interferon gamma identified by sequencing the entire gene

JOURNAL ARTICLE published January 2001 in Journal of Human Genetics

Authors: H. Iwasaki | N. Ota | T. Nakajima | Y. Shinohara | M. Kodaira | M. Kajita | M. Emi

https://doi.org/10.1007/s100380170121 Actions

Phenotype variations in Lafora progressive myoclonus epilepsy: possible involvement of genetic modifiers?

JOURNAL ARTICLE published May 2012 in Journal of Human Genetics

Authors: Shweta Singh | Subramaniam Ganesh

https://doi.org/10.1038/jhg.2012.29 Actions

Frequent loss of heterozygosity at 3p25-p26 is associated with invasive oral squamous cell carcinoma

JOURNAL ARTICLE published May 2001 in Journal of Human Genetics

Authors: H. Kayahara | H. Yamagata | H. Tanioka | T. Miki | H. Hamakawa

https://doi.org/10.1007/s100380170069 Actions

Subtelomeric deletions of 1q43q44 and severe brain impairment associated with delayed myelination

JOURNAL ARTICLE published September 2012 in Journal of Human Genetics

Authors: Keiko Shimojima | Nobuhiko Okamoto | Yume Suzuki | Mari Saito | Masato Mori | Tatanori Yamagata | Mariko Y Momoi | Hideji Hattori | Yoshiyuki Okano | Ken Hisata | Akihisa Okumura | Toshiyuki Yamamoto

https://doi.org/10.1038/jhg.2012.77 Actions

Novel biallelic mutations in PADI6 in patients with early embryonic arrest

JOURNAL ARTICLE published May 2022 in Journal of Human Genetics

Research funded by National Natural Science Foundation of China (82171643,81971450,81822019)

Authors: Jie Dong | Jing Fu | Zheng Yan | Lin Li | Ying Qiu | Yang Zeng | Ruyi Liu | Biaobang Chen | Rong Shi | Feiyang Diao | Lei Wang | Qiuwen Shi | Qing Sang

https://doi.org/10.1038/s10038-021-00998-8 Actions

Early-progressive dilated cardiomyopathy in a family with Becker muscular dystrophy related to a novel frameshift mutation in the dystrophin gene exon 27

JOURNAL ARTICLE published March 2015 in Journal of Human Genetics

Authors: Takeshi Tsuda | Kristi Fitzgerald | Mena Scavena | Samuel Gidding | Mary O Cox | Harold Marks | Kevin M Flanigan | Steven A Moore

https://doi.org/10.1038/jhg.2014.112 Actions

Exogenous gene expression and growth regulation of hematopoietic cells via a novel human artificial chromosome

JOURNAL ARTICLE published February 2006 in Journal of Human Genetics

Authors: Hidetoshi Yamada | Atsushi Kunisato | Masahiro Kawahara | Candice G. T. Tahimic | Xianying Ren | Hiroshi Ueda | Teruyuki Nagamune | Motonobu Katoh | Toshiaki Inoue | Mitsuo Nishikawa | Mitsuo Oshimura

https://doi.org/10.1007/s10038-005-0334-9 Actions

Noncoding RNAs: a new fine-tuner is a key player of human pathogenesis

JOURNAL ARTICLE published January 2017 in Journal of Human Genetics

Authors: Naohiko Seki | Akira Hata

https://doi.org/10.1038/jhg.2016.140 Actions

DNA-based diagnosis of malignant osteopetrosis by whole-genome scan using a single-nucleotide polymorphism microarray: standardization of molecular investigations of genetic diseases due to consanguinity

JOURNAL ARTICLE published January 2007 in Journal of Human Genetics

Authors: Ching-Wan Lam | Sui-Fan Tong | Keong Wong | Y. F. Luo | Hoi-Yin Tang | Shau-Yin Ha | Michael Ho-Ming Chan

https://doi.org/10.1007/s10038-006-0075-4 Actions

22q11.2 rearrangements found in women with low ovarian reserve and premature ovarian insufficiency

JOURNAL ARTICLE published May 2018 in Journal of Human Genetics

Authors: Sylvie Jaillard | Elena J Tucker | Linda Akloul | Marion Beaumont | Mathilde Domin | Laurent Pasquier | Guilhem Jouve | Sylvie Odent | Marc-Antoine Belaud-Rotureau | Célia Ravel

https://doi.org/10.1038/s10038-018-0433-z Actions
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