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Showing results for ISSN matching 1434-5161

Genetic structures of the Tibetans and the Deng people in the Himalayas viewed from autosomal STRs

JOURNAL ARTICLE published May 2010 in Journal of Human Genetics

Authors: Longli Kang | Shilin Li | Sameer Gupta | Yingang Zhang | Kai Liu | Jianmin Zhao | Li Jin | Hui Li

https://doi.org/10.1038/jhg.2010.21 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

ATP6V0C gene variants were identified in individuals with epilepsy, with or without developmental delay

JOURNAL ARTICLE published September 2023 in Journal of Human Genetics

Authors: Siyu Zhao | Xiaoling Zhang | Le Yang | Yan Wang | ShanShan Jia | Xia Li | Zhijing Wang | Fan Yang | Mengmeng Liang | Xiuxia Wang | Dong Wang

https://doi.org/10.1038/s10038-023-01145-1 Actions

Functional insight into a neurodevelopmental disorder caused by missense variants in an RNA-binding protein, RBM10

JOURNAL ARTICLE published September 2023 in Journal of Human Genetics

Authors: Eri Imagawa | Latisha Moreta | Vinod K. Misra | Claire Newman | Tsuyoshi Konuma | Kimihiko Oishi

https://doi.org/10.1038/s10038-023-01162-0 Actions

The utility of post-test newborn blood spot screening cards for epigenetic association analyses: association between HIF3A methylation and birth weight-for-gestational age

JOURNAL ARTICLE published August 2019 in Journal of Human Genetics

Research funded by MEXT | Japan Society for the Promotion of Science (JP17K10174)

Authors: Tay Zar Kyaw | Seiji Yamaguchi | Chihiro Imai | Marina Uematsu | Noriko Sato

https://doi.org/10.1038/s10038-019-0621-5 Actions

Gastrointestinal cancer occurs as extramuscular manifestation in FSHD1 patients

JOURNAL ARTICLE published February 2023 in Journal of Human Genetics

Authors: Takashi Kurashige | Hiroyuki Morino | Hiroki Ueno | Tomomi Murao | Tomoaki Watanabe | Takao Hinoi | Ichizo Nishino | Tsuyoshi Torii | Hirofumi Maruyama

https://doi.org/10.1038/s10038-022-01095-0 Actions

Angelman syndrome with mosaic paternal uniparental disomy suggestive of mitotic nondisjunction

JOURNAL ARTICLE published February 2023 in Journal of Human Genetics

Authors: Masanori Fujimoto | Yuji Nakamura | Toshihiko Iwaki | Emi Sato | Daisuke Ieda | Ayako Hattori | Anna Shiraki | Seiji Mizuno | Shinji Saitoh

https://doi.org/10.1038/s10038-022-01088-z Actions

X-linked adrenoleukodystrophy: Diagnostic and follow-up system in Japan

JOURNAL ARTICLE published February 2011 in Journal of Human Genetics

Authors: Nobuyuki Shimozawa | Ayako Honda | Naomi Kajiwara | Sachi Kozawa | Tomoko Nagase | Yasuhiko Takemoto | Yasuyuki Suzuki

https://doi.org/10.1038/jhg.2010.139 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

A TP53-truncating germline mutation (E287X) in a family with characteristics of both hereditary diffuse gastric cancer and Li-Fraumeni syndrome

JOURNAL ARTICLE published November 2004 in Journal of Human Genetics

Authors: Il-Jin Kim | Hio Chung Kang | Yong Shin | Hye-Won Park | Sang-Geun Jang | Song-Yee Han | Sun-Kyung Lim | Min Ro Lee | Hee Jin Chang | Ja-Lok Ku | Han-Kwang Yang | Jae-Gahb Park

https://doi.org/10.1007/s10038-004-0193-9 Actions

Frequency of the LRRK2 G2019S mutation in Italian patients affected by Parkinson's disease

JOURNAL ARTICLE published March 2007 in Journal of Human Genetics

Authors: Tiziana Squillaro | Franca Cambi | Giuseppe Ciacci | Simone Rossi | Monica Ulivelli | Alessandro Malandrini | Maria Antonietta Mencarelli | Francesca Mari | Alessandra Renieri | Francesca Ariani

https://doi.org/10.1007/s10038-006-0105-2 Actions

Norrbottnian clinical variant of Gaucher disease in Southern Italy

JOURNAL ARTICLE published April 2017 in Journal of Human Genetics

Authors: Simona Sestito | Mirella Filocamo | Ferdinando Ceravolo | Francesca Falvo | Michele Grisolia | Maria Teresa Moricca | Renato Cantaffa | Serena Grossi | Pietro Strisciuglio | Daniela Concolino

https://doi.org/10.1038/jhg.2016.158 Actions

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

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

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

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

A novel de novo NIPA1 missense mutation associated to hereditary spastic paraplegia

JOURNAL ARTICLE published December 2021 in Journal of Human Genetics

Authors: Dora Fabbro | Catia Mio | Federico Fogolari | Giuseppe Damante

https://doi.org/10.1038/s10038-021-00941-x Actions
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