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Showing results for ISSN matching 1434-5161

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

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

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

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

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

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

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

Novel polymorphisms in the βig-h3 gene

JOURNAL ARTICLE published September 1998 in Journal of Human Genetics

Authors: M. Tsujikawa | Yoshikazu Shimomura | Masaki Okada | Syuji Yamamoto | Yasuo Tano | Hiroki Kurahashi

https://doi.org/10.1007/s100380050075 Actions

Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus–Merzbacher disease patient with a partial PLP1 duplication

JOURNAL ARTICLE published September 2012 in Journal of Human Genetics

Authors: Keiko Shimojima | Takahito Inoue | Yuki Imai | Yasuhiro Arai | Yuta Komoike | Midori Sugawara | Takako Fujita | Hiroshi Ideguchi | Sawa Yasumoto | Hitoshi Kanno | Shinichi Hirose | Toshiyuki Yamamoto

https://doi.org/10.1038/jhg.2012.71 Actions

Designing a multistage, SNP-based, genome screen for common diseases

JOURNAL ARTICLE published December 2004 in Journal of Human Genetics

Authors: Yasunori Sato | Hideki Suganami | Chikuma Hamada | Isao Yoshimura | Teruhiko Yoshida | Kimio Yoshimura

https://doi.org/10.1007/s10038-004-0205-9 Actions

Recent progress in the genetics of incontinentia pigmenti (Bloch-Sulzberger syndrome)

JOURNAL ARTICLE published November 2000 in Journal of Human Genetics

Authors: Barkur S. Shastry

https://doi.org/10.1007/s100380070001 Actions

Retrotransposition disrupting EBP in a girl and her mother with X-linked dominant chondrodysplasia punctata

JOURNAL ARTICLE published May 2022 in Journal of Human Genetics

Research funded by Japan Agency for Medical Research and Development (JP21ek0109549,JP19ek0109297)

Authors: Takuya Hiraide | Yohei Masunaga | Akira Honda | Fumiko Kato | Tokiko Fukuda | Maki Fukami | Mitsuko Nakashima | Hirotomo Saitsu | Tsutomu Ogata

https://doi.org/10.1038/s10038-021-01000-1 Actions

A new autosomal recessive nonsyndromic hearing impairment locus DFNB96 on chromosome 1p36.31–p36.13

JOURNAL ARTICLE published December 2011 in Journal of Human Genetics

Authors: Muhammad Ansar | Kwanghyuk Lee | Syed Kamran-ul-Hassan Naqvi | Paula B Andrade | Sulman Basit | Regie Lyn P Santos-Cortez | Wasim Ahmad | Suzanne M Leal

https://doi.org/10.1038/jhg.2011.110 Actions

Whole exome sequencing reveal 83 novel Mendelian disorders carrier P/LP variants in Chinese adult patients

JOURNAL ARTICLE published November 2023 in Journal of Human Genetics

Authors: Li Zhang | Li Yu | Xianhong Shu | Jing Ding | Jingmin Zhou | Chunjiu Zhong | Baishen Pan | Wei Guo | Chunyan Zhang | Beili Wang

https://doi.org/10.1038/s10038-023-01179-5 Actions

Meta-analysis of genome-wide association scans for genetic susceptibility to endometriosis in Japanese population

JOURNAL ARTICLE published December 2010 in Journal of Human Genetics

Authors: Sosuke Adachi | Atsushi Tajima | Jinhua Quan | Kazufumi Haino | Kosuke Yoshihara | Hideaki Masuzaki | Hidetaka Katabuchi | Kenichiro Ikuma | Hiroshi Suginami | Nao Nishida | Ryozo Kuwano | Yuji Okazaki | Yoshiya Kawamura | Tsukasa Sasaki | Katsushi Tokunaga | Ituro Inoue | Kenichi Tanaka

https://doi.org/10.1038/jhg.2010.118 Actions

Mediation analysis of alcohol consumption, DNA methylation, and epithelial ovarian cancer

JOURNAL ARTICLE published March 2018 in Journal of Human Genetics

Authors: Dongyan Wu | Haitao Yang | Stacey J. Winham | Yanina Natanzon | Devin C. Koestler | Tiane Luo | Brooke L. Fridley | Ellen L. Goode | Yanbo Zhang | Yuehua Cui

https://doi.org/10.1038/s10038-017-0385-8 Actions
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