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Showing results for ISSN matching 1434-5161

Molecular assay for an intronic variant in NUP93 that causes steroid resistant nephrotic syndrome

JOURNAL ARTICLE published July 2019 in Journal of Human Genetics

Authors: Rini Rossanti | Akemi Shono | Kenichiro Miura | Motoshi Hattori | Tomohiko Yamamura | Keita Nakanishi | Shogo Minamikawa | Junya Fujimura | Tomoko Horinouchi | China Nagano | Nana Sakakibara | Hiroshi Kaito | Hiroaki Nagase | Naoya Morisada | Katsuhiko Asanuma | Masafumi Matsuo | Kandai Nozu | Kazumoto Iijima

https://doi.org/10.1038/s10038-019-0606-4 Actions

Comparison of the effects of agalsidase alfa and agalsidase beta on cultured human Fabry fibroblasts and Fabry mice

JOURNAL ARTICLE published March 2006 in Journal of Human Genetics

Authors: Hitoshi Sakuraba | Mai Murata-Ohsawa | Ikuo Kawashima | Youichi Tajima | Masaharu Kotani | Toshio Ohshima | Yasunori Chiba | Minako Takashiba | Yoshifumi Jigami | Tomoko Fukushige | Tamotsu Kanzaki | Kohji Itoh

https://doi.org/10.1007/s10038-005-0342-9 Actions

Follow-up nationwide survey on predictive genetic testing for late-onset hereditary neurological diseases in Japan

JOURNAL ARTICLE published August 2013 in Journal of Human Genetics

Authors: Keiko Tanaka | Yoshiki Sekijima | Kunihiro Yoshida | Mariko Tamai | Tomoki Kosho | Akihiro Sakurai | Keiko Wakui | Shu-ichi Ikeda | Yoshimitsu Fukushima

https://doi.org/10.1038/jhg.2013.34 Actions

Genetic studies of 20 Japanese families of dystrophic epidermolysis bullosa

JOURNAL ARTICLE published October 2005 in Journal of Human Genetics

Authors: Daisuke Sawamura | Maki Goto | Kana Yasukawa | Kazuko Sato-Matsumura | Hideki Nakamura | Kei Ito | Hiroyuki Nakamura | Yuki Tomita | Hiroshi Shimizu

https://doi.org/10.1007/s10038-005-0290-4 Actions

Association study to evaluate the serotonin transporter and apolipoprotein E genes in frontotemporal lobar degeneration in Italy

JOURNAL ARTICLE published December 2008 in Journal of Human Genetics

Authors: Diego Albani | Francesca Prato | Chiara Fenoglio | Sara Batelli | Sabrina Dusi | Stefania De Mauro | Letizia Polito | Carlo Lovati | Daniela Galimberti | Claudio Mariani | Elio Scarpini | Gianluigi Forloni

https://doi.org/10.1007/s10038-008-0344-5 Actions

Concomitant microduplications of MECP2 and ATRX in male patients with severe mental retardation

JOURNAL ARTICLE published January 2012 in Journal of Human Genetics

Authors: Shozo Honda | and the Japanese Mental Retardation Consortium | Shigeko Satomura | Shin Hayashi | Issei Imoto | Eiji Nakagawa | Yu-ichi Goto | Johji Inazawa

https://doi.org/10.1038/jhg.2011.131 Actions

Correction: Identification of cytotoxic T cells and their T cell receptor sequences targeting COVID-19 using MHC class I-binding peptides

JOURNAL ARTICLE published July 2022 in Journal of Human Genetics

Authors: Tetsuro Hikichi | Michiko Sakamoto | Makiko Harada | Maki Saito | Yuka Yamane | Kimihisa Tokumura | Yusuke Nakamura

https://doi.org/10.1038/s10038-022-01024-1 Actions

Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations

JOURNAL ARTICLE published February 2017 in Journal of Human Genetics

Authors: Montesclaros Hortigüela | Ana Fernández-Marmiesse | Verónica Cantarín | Sofía Gouveia | Juan J García-Peñas | Carmen Fons | Judith Armstrong | Desirée Barrios | Felícitas Díaz-Flores | Pilar Tirado | María L Couce | Luis G Gutiérrez-Solana

https://doi.org/10.1038/jhg.2016.104 Actions

Band-like calcification with simplified gyration and polymicrogyria: report of 10 new families and identification of five novel OCLN mutations

JOURNAL ARTICLE published May 2017 in Journal of Human Genetics

Authors: Mohamed S Abdel-Hamid | Ghada M H Abdel-Salam | Mahmoud Y Issa | Bayoumi A Emam | Maha S Zaki

https://doi.org/10.1038/jhg.2017.4 Actions

Japanese insurers’ attitudes toward adverse selection and genetic discrimination: a questionnaire survey and interviews with employees about using genetic test results

JOURNAL ARTICLE published May 2021 in Journal of Human Genetics

Authors: Hiroshi Iida | Kaori Muto

https://doi.org/10.1038/s10038-020-00873-y Actions

Four parameters increase the sensitivity and specificity of the exon array analysis and disclose 25 novel aberrantly spliced exons in myotonic dystrophy

JOURNAL ARTICLE published June 2012 in Journal of Human Genetics

Authors: Yoshihiro Yamashita | Tohru Matsuura | Jun Shinmi | Yoshinobu Amakusa | Akio Masuda | Mikako Ito | Masanobu Kinoshita | Hirokazu Furuya | Koji Abe | Tohru Ibi | Koo Sahashi | Kinji Ohno

https://doi.org/10.1038/jhg.2012.37 Actions

Detection of inappropriate samples in association studies by an IBS-based method considering linkage disequilibrium between genetic markers

JOURNAL ARTICLE published July 2010 in Journal of Human Genetics

Authors: Masataka Andoh | Yasunori Sato | Hiromi Sakamoto | Teruhiko Yoshida | Megu Ohtaki

https://doi.org/10.1038/jhg.2010.43 Actions

Further evidence for a major ancient mutation underlying myotonic dystrophy from linkage disequilibrium studies in the Japanese population

JOURNAL ARTICLE published December 1998 in Journal of Human Genetics

Authors: H. Yamagata | Masanori Nakagawa | Keith Johnson | Tetsuro Miki

https://doi.org/10.1007/s100380050082 Actions

Isolation and characterization of a human cDNA encoding a protein homologous to the 7.2-kDa protein (subunit X) of bovine ubiquinol-cytochrome C reductase

JOURNAL ARTICLE published January 2000 in Journal of Human Genetics

Authors: H. Akashi | H-J. Han | M. Iizaka | Y. Nakajima | Y. Furukawa | S. Sugano | K. Imai | Y. Nakamura

https://doi.org/10.1007/s100380050008 Actions

Identification of a novel single nucleotide polymorphism (SNP) in the human organic cation transporter-like 2-antisense (ORCTL2S) gene

JOURNAL ARTICLE published January 2000 in Journal of Human Genetics

Authors: K. Higashimoto | H. Soejima | T. Katsuki | T. Mukai

https://doi.org/10.1007/s100380050012 Actions

Isolation and mapping of a polymorphic CA repeat sequence at the human VRK1 locus

JOURNAL ARTICLE published March 1999 in Journal of Human Genetics

Authors: Jun Sugimoto | Toshihiro Yamauchi | Toyomasa Hatakeyama | Masaharu Isobe | J. Sugimoto | T. Yamauchi | T. Hatakeyama | M. Isobe

https://doi.org/10.1007/s100380050127 Actions

“Distribution of paternal lineages in Mestizo populations throughout Mexico: an in silico study based on Y-STR haplotypes”

JOURNAL ARTICLE published March 2021 in Journal of Human Genetics

Authors: J. A. Aguilar-Velázquez | H. Rangel-Villalobos

https://doi.org/10.1038/s10038-020-00824-7 Actions

OCA2*481Thr, a hypofunctional allele in pigmentation, is characteristic of northeastern Asian populations

JOURNAL ARTICLE published August 2007 in Journal of Human Genetics

Authors: Isao Yuasa | Kazuo Umetsu | Shinji Harihara | Aya Miyoshi | Naruya Saitou | Kyung Sook Park | Bumbein Dashnyam | Feng Jin | Gérard Lucotte | Prasanta K. Chattopadhyay | Lotte Henke | Jürgen Henke

https://doi.org/10.1007/s10038-007-0167-9 Actions

Molecular cytogenetics analysis with whole chromosome paint probes of sperm nuclei from a (13;15) Robertsonian translocation carrier

JOURNAL ARTICLE published July 2005 in Journal of Human Genetics

Authors: Nathalie Rives | Célia Ravel | Véronique Duchesne | Jean-Pierre Siffroi | Nathalie Mousset-Siméon | Bertrand Macé

https://doi.org/10.1007/s10038-005-0259-3 Actions

Transmission of Y chromosomal microdeletions from father to son through intracytoplasmic sperm injection

JOURNAL ARTICLE published September 2002 in Journal of Human Genetics

Authors: S. Komori | H. Kato | S. Kobayashi | K. Koyama | S. Isojima

https://doi.org/10.1007/s100380200066 Actions
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