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Showing results for ISSN matching 1434-5161

TECTA mutations in Japanese with mid-frequency hearing loss affected by zona pellucida domain protein secretion

JOURNAL ARTICLE published September 2012 in Journal of Human Genetics

Authors: Hideaki Moteki | Shin-ya Nishio | Shigenari Hashimoto | Yutaka Takumi | Satoshi Iwasaki | Norihito Takeichi | Satoshi Fukuda | Shin-ichi Usami

https://doi.org/10.1038/jhg.2012.73 Actions

Imputation approach for deducing a complete mitogenome sequence from low-depth-coverage next-generation sequencing data: application to ancient remains from the Moon Pyramid, Mexico

JOURNAL ARTICLE published June 2017 in Journal of Human Genetics

Authors: Fuzuki Mizuno | Masahiko Kumagai | Kunihiko Kurosaki | Michiko Hayashi | Saburo Sugiyama | Shintaroh Ueda | Li Wang

https://doi.org/10.1038/jhg.2017.14 Actions

A novel 111/121 diplotype in the Calpain-10 gene is associated with type 2 diabetes

JOURNAL ARTICLE published July 2006 in Journal of Human Genetics

Authors: Eun Seok Kang | Hye Joo Kim | Moonsuk Nam | Chung Mo Nam | Chul Woo Ahn | Bong Soo Cha | Hyun Chul Lee

https://doi.org/10.1007/s10038-006-0410-9 Actions

Effects of a polymorphism in the GFAP promoter on the age of onset and ambulatory disability in late-onset Alexander disease

JOURNAL ARTICLE published September 2013 in Journal of Human Genetics

Authors: Tomokatsu Yoshida | Ikuko Mizuta | Kozo Saito | Ryo Ohara | Hiroshi Kurisaki | Keiko Ohnari | Yuichi Riku | Yuichi Hayashi | Hidekazu Suzuki | Hiroaki Shii | Yasuhiro Fujiwara | Tadahiro Yonezu | Akiko Nagaishi | Masanori Nakagawa

https://doi.org/10.1038/jhg.2013.83 Actions

Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns

JOURNAL ARTICLE published August 2010 in Journal of Human Genetics

Authors: Beom Hee Lee | Sun Hee Heo | Gu-Hwan Kim | Jung-Young Park | Woo-Shik Kim | Duk-Hee Kang | Kyung Hoon Choe | Won-Ho Kim | Song Hyun Yang | Han-Wook Yoo

https://doi.org/10.1038/jhg.2010.58 Actions

A common Ile796Val polymorphism of the human SREBP cleavage-activating protein (SCAP) gene

JOURNAL ARTICLE published October 1999 in Journal of Human Genetics

Authors: Kikumi Iwaki | Toshiaki Nakajima | Nobutaka Ota | Mitsuru Emi

https://doi.org/10.1007/s100380050193 Actions

Spinocerebellar ataxias in Venezuela: genetic epidemiology and their most likely ethnic descent

JOURNAL ARTICLE published March 2016 in Journal of Human Genetics

Authors: Irene Paradisi | Vassiliki Ikonomu | Sergio Arias

https://doi.org/10.1038/jhg.2015.131 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

Survey of motivation to participate in a birth cohort

JOURNAL ARTICLE published September 2016 in Journal of Human Genetics

Authors: Midori Yamamoto | Misuzu Fujita | Chisato Mori | Akira Hata

https://doi.org/10.1038/jhg.2016.60 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

Transduction of fibroblasts and CD34+ progenitors using a selectable retroviral vector containing cDNAs encoding arylsulfatase A and CD24

JOURNAL ARTICLE published January 2000 in Journal of Human Genetics

Authors: Arisa Tsutsuda-Asano | Makoto Migita | Kumi Takahashi | Takashi Shimada

https://doi.org/10.1007/s100380050004 Actions

A rapid and simple method for sex identification by heteroduplex analysis, using denaturing high-performance liquid chromatography (DHPLC)

JOURNAL ARTICLE published April 2001 in Journal of Human Genetics

Authors: T. Shinka | T. Naroda | T. Tamura | K. Sasahara | Y. Nakahori

https://doi.org/10.1007/s100380170076 Actions

Evolution and migration history of the Chinese population inferred from Chinese Y-chromosome evidence

JOURNAL ARTICLE published July 2004 in Journal of Human Genetics

Authors: Wei Deng | Baochen Shi | Xiaoli He | Zhihua Zhang | Jun Xu | Biao Li | Jian Yang | Lunjiang Ling | Chengping Dai | Boqin Qiang | Yan Shen | Runsheng Chen

https://doi.org/10.1007/s10038-004-0154-3 Actions

X-chromosome inactivation in the human trophoblast of early pregnancy

JOURNAL ARTICLE published May 2000 in Journal of Human Genetics

Authors: S. Uehara | M. Tamura | M. Nata | G. Ji | N. Yaegashi | K. Okamura | A. Yajima

https://doi.org/10.1007/s100380050197 Actions

An FBN1 pseudoexon mutation in a patient with Marfan syndrome: confirmation of cryptic mutations leading to disease

JOURNAL ARTICLE published December 2008 in Journal of Human Genetics

Authors: Dong-chuan Guo | Prateek Gupta | Van Tran-Fadulu | Tera V. Guidry | Magalie S. Leduc | Frederick V. Schaefer | Dianna M. Milewicz

https://doi.org/10.1007/s10038-008-0334-7 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

A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin

JOURNAL ARTICLE published June 2009 in Journal of Human Genetics

Authors: Steven F Dobrowolski | K Borski | C C Ellingson | R Koch | H L Levy | E W Naylor

https://doi.org/10.1038/jhg.2009.37 Actions
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