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Showing results for ISSN matching 1434-5161

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

Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations

JOURNAL ARTICLE published February 2012 in Journal of Human Genetics

Authors: Yen-Hui Chiu | Ying-Chen Chang | Yu-Hsin Chang | Dau-Ming Niu | Yan-Ling Yang | Jun Ye | Jianhui Jiang | Yoshiyuki Okano | Dong Hwan Lee | Suthipong Pangkanon | Chulaluck Kuptanon | Ngu Lock Hock | Mary Anne Chiong | Barbra V Cavan | Kwang-Jen Hsiao | Tze-Tze Liu

https://doi.org/10.1038/jhg.2011.146 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

Deletion at chromosome 10p11.23-p12.1 defines characteristic phenotypes with marked midface retrusion

JOURNAL ARTICLE published March 2012 in Journal of Human Genetics

Authors: Nana Okamoto | Shin Hayashi | Ayako Masui | Rika Kosaki | Izumi Oguri | Tomoko Hasegawa | Issei Imoto | Yoshio Makita | Akira Hata | Keiji Moriyama | Johji Inazawa

https://doi.org/10.1038/jhg.2011.154 Actions

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

Association of polymorphisms in the RAGE gene with serum CRP levels and coronary artery disease in the Chinese Han population

JOURNAL ARTICLE published October 2010 in Journal of Human Genetics

Authors: Jinxiong Gao | Yahui Shao | Wenyan Lai | Hao Ren | Dingli Xu

https://doi.org/10.1038/jhg.2010.85 Actions

A great diversity of Amerindian mitochondrial DNA ancestry is present in the Mexican mestizo population

JOURNAL ARTICLE published December 2009 in Journal of Human Genetics

Authors: Mariano Guardado-Estrada | Eligia Juarez-Torres | Ingrid Medina-Martinez | Ana Wegier | Antonio Macías | Guillermo Gomez | Fernando Cruz-Talonia | Edgar Roman-Bassaure | Daniel Piñero | Susana Kofman-Alfaro | Jaime Berumen

https://doi.org/10.1038/jhg.2009.98 Actions

Molecular characterization of Egyptian patients with glycogen storage disease type IIIa

JOURNAL ARTICLE published October 2005 in Journal of Human Genetics

Authors: Yoriko Endo | Ekram Fateen | Yoshiko Aoyama | Asako Horinishi | Tetsu Ebara | Toshio Murase | Yoon S. Shin | Minoru Okubo

https://doi.org/10.1007/s10038-005-0291-3 Actions

mtDNA G10398A variant in African-American women with breast cancer provides resistance to apoptosis and promotes metastasis in mice

JOURNAL ARTICLE published November 2009 in Journal of Human Genetics

Authors: Mariola Kulawiec | Kjerstin M Owens | Keshav K Singh

https://doi.org/10.1038/jhg.2009.89 Actions

Genome-wide association study reveals sex-specific selection signals against autosomal nucleotide variants

JOURNAL ARTICLE published May 2016 in Journal of Human Genetics

Authors: Dongchan Ryu | Jihye Ryu | Chaeyoung Lee

https://doi.org/10.1038/jhg.2015.169 Actions

The value of single-molecule real-time technology in the diagnosis of rare thalassemia variants and analysis of phenotype–genotype correlation

JOURNAL ARTICLE published April 2022 in Journal of Human Genetics

Authors: Shiqiang Luo | Xingyuan Chen | Dingyuan Zeng | Ning Tang | Dejian Yuan | Qingyan Zhong | Aiping Mao | Ruofan Xu | Tizhen Yan

https://doi.org/10.1038/s10038-021-00983-1 Actions

Retinoblastoma and mental retardation microdeletion syndrome: clinical characterization and molecular dissection using array CGH

JOURNAL ARTICLE published June 2007 in Journal of Human Genetics

Authors: R. Caselli | C. Speciale | C. Pescucci | V. Uliana | K. Sampieri | M. Bruttini | I. Longo | S. De Francesco | T. Pramparo | O. Zuffardi | R. Frezzotti | A. Acquaviva | T. Hadjistilianou | A. Renieri | F. Mari

https://doi.org/10.1007/s10038-007-0151-4 Actions

Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population

JOURNAL ARTICLE published May 2024 in Journal of Human Genetics

Research funded by Astellas Pharma (NA,NA,NA,NA)

Authors: Hisao Yaoita | Eiichiro Kawai | Jun Takayama | Shinya Iwasawa | Naoya Saijo | Masayuki Abiko | Kouta Suzuki | Masato Kimura | Akira Ozawa | Gen Tamiya | Shigeo Kure | Atsuo Kikuchi

https://doi.org/10.1038/s10038-024-01223-y Actions

A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome

JOURNAL ARTICLE published July 2023 in Journal of Human Genetics

Research funded by MEXT | Japan Society for the Promotion of Science (JP20H03641,20K21570) | Japan Agency for Medical Research and Development (JP21ek0109549)

Authors: Takuya Hiraide | Kenji Shimizu | Yoshinori Okumura | Sachiko Miyamoto | Mitsuko Nakashima | Tsutomu Ogata | Hirotomo Saitsu

https://doi.org/10.1038/s10038-023-01143-3 Actions

Characterization of contiguous gene deletions in COL4A6 and COL4A5 in Alport syndrome-diffuse leiomyomatosis

JOURNAL ARTICLE published July 2017 in Journal of Human Genetics

Authors: Kandai Nozu | Shogo Minamikawa | Shiro Yamada | Masafumi Oka | Motoko Yanagita | Naoya Morisada | Shuichiro Fujinaga | China Nagano | Yoshimitsu Gotoh | Eihiko Takahashi | Takahiro Morishita | Tomohiko Yamamura | Takeshi Ninchoji | Hiroshi Kaito | Ichiro Morioka | Koichi Nakanishi | Igor Vorechovsky | Kazumoto Iijima

https://doi.org/10.1038/jhg.2017.28 Actions

Six years’ accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures

JOURNAL ARTICLE published September 2022 in Journal of Human Genetics

Research funded by Japan Agency for Medical Research and Development (JP16ek0109151,JP18ek0109301,JP21ek0109549)

Authors: Yuji Takahashi | Hidetoshi Date | Hideki Oi | Takeya Adachi | Noriaki Imanishi | En Kimura | Hotake Takizawa | Shinji Kosugi | Naomichi Matsumoto | Kenjiro Kosaki | Yoichi Matsubara | Yukio Ando | Toshihisa Anzai | Tadashi Ariga | Yoshimitsu Fukushima | Yoshihiko Furusawa | Akira Ganaha | Yuichi Goto | Kenichiro Hata | Masataka Honda | Kazumoto Iijima | Tsunakuni Ikka | Issei Imoto | Tadashi Kaname | Masao Kobayashi | Seiji Kojima | Hiroki Kurahashi | Shigeo Kure | Kenji Kurosawa | Yoshihiro Maegaki | Yoshio Makita | Tomohiro Morio | Ichiei Narita | Fumio Nomura | Tsutomu Ogata | Keiichi Ozono | Akira Oka | Nobuhiko Okamoto | Shinji Saitoh | Akihiro Sakurai | Fumio Takada | Tsutomu Takahashi | Akira Tamaoka | Akihiro Umezawa | Akihiro Yachie | Kouichiro Yoshiura | Yasutsugu Chinen | Mariko Eguchi | Keishi Fujio | Kiminori Hosoda | Tomohiko Ichikawa | Toshitaka Kawarai | Tomoki Kosho | Mitsuo Masuno | Akie Nakamura | Takaya Nakane | Tomoo Ogi | Satoshi Okada | Yasushi Sakata | Toshiyuki Seto | Yoshiyuki Takahashi | Tadao Takano | Mitsuharu Ueda | Hideaki Yagasaki | Toshiyuki Yamamoto | Atsushi Watanabe | Yoshihiro Hotta | Akiharu Kubo | Hirofumi Maruyama | Keiji Moriyama | Eiji Nanba | Norio Sakai | Yoshiki Sekijima | Toru Shimosegawa | Tsutomu Takeuchi | Shinichi Usami | Kazuhiko Yamamoto | Hidehiro Mizusawa | IRUD Consortium

https://doi.org/10.1038/s10038-022-01025-0 Actions

Mutation analysis and genotype/phenotype relationships of Gaucher disease patients in Spain

JOURNAL ARTICLE published May 2007 in Journal of Human Genetics

Authors: Pilar Alfonso | on behalf of Spanish Gaucher’s Disease Registry | Sofía Aznarez | Manuel Giralt | Miguel Pocovi | Pilar Giraldo

https://doi.org/10.1007/s10038-007-0135-4 Actions

Molecular diagnosis and clinical onset of Charcot–Marie–Tooth disease in Japan

JOURNAL ARTICLE published May 2011 in Journal of Human Genetics

Authors: Akiko Abe | Chikahiko Numakura | Kazuki Kijima | Makiko Hayashi | Taeko Hashimoto | Kiyoshi Hayasaka

https://doi.org/10.1038/jhg.2011.20 Actions
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