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Showing results for ISSN matching 1434-5161

Dysosteosclerosis is also caused by TNFRSF11A mutation

JOURNAL ARTICLE published June 2018 in Journal of Human Genetics

Authors: Long Guo | Nursel H. Elcioglu | Ozge K. Karalar | Mert O. Topkar | Zheng Wang | Yuma Sakamoto | Naomichi Matsumoto | Noriko Miyake | Gen Nishimura | Shiro Ikegawa

https://doi.org/10.1038/s10038-018-0447-6 Actions

Current status of hepatic glycogen storage disease in Japan: clinical manifestations, treatments and long-term outcomes

JOURNAL ARTICLE published May 2013 in Journal of Human Genetics

Authors: Jun Kido | Kimitoshi Nakamura | Shirou Matsumoto | Hiroshi Mitsubuchi | Toshihiro Ohura | Yosuke Shigematsu | Tohru Yorifuji | Mureo Kasahara | Reiko Horikawa | Fumio Endo

https://doi.org/10.1038/jhg.2013.17 Actions

Could inherited predisposition drive non-obese fatty liver disease? Results from German tertiary referral centers

JOURNAL ARTICLE published May 2018 in Journal of Human Genetics

Authors: Marcin Krawczyk | NAFLD Clinical Study Group (NAFLD CSG) | Heike Bantel | Monika Rau | Jörn M. Schattenberg | Frank Grünhage | Anita Pathil | Münevver Demir | Johannes Kluwe | Tobias Boettler | Susanne N. Weber | Andreas Geier | Frank Lammert

https://doi.org/10.1038/s10038-018-0420-4 Actions

Genotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions

JOURNAL ARTICLE published July 2008 in Journal of Human Genetics

Authors: Shintaro Yamashita | Ichizo Nishino | Ikuya Nonaka | Yu-ichi Goto

https://doi.org/10.1007/s10038-008-0289-8 Actions

Erratum: The diagnostic utility of exome sequencing in Joubert syndrome and related disorders

JOURNAL ARTICLE published October 2015 in Journal of Human Genetics

Authors: Yoshinori Tsurusaki | Yasuko Kobayashi | Masataka Hisano | Shuichi Ito | Hiroshi Doi | Mitsuko Nakashima | Hirotomo Saitsu | Naomichi Matsumoto | Noriko Miyake

https://doi.org/10.1038/jhg.2015.86 Actions

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

Updated summary of genome editing technology in human cultured cells linked to human genetics studies

JOURNAL ARTICLE published February 2018 in Journal of Human Genetics

Authors: Tatsuo Miyamoto | Silvia Natsuko Akutsu | Shinya Matsuura

https://doi.org/10.1038/s10038-017-0349-z Actions

Genetic and epigenetic profiling of BRCA1/2 in ovarian tumors reveals additive diagnostic yield and evidence of a genomic BRCA1/2 DNA methylation signature

JOURNAL ARTICLE published October 2020 in Journal of Human Genetics

Authors: Erfan Aref-Eshghi | Jacob D. McGee | Victor P. Pedro | Jennifer Kerkhof | Alan Stuart | Peter J. Ainsworth | Hanxin Lin | Michael Volodarsky | Catherine Meg McLachlin | Bekim Sadikovic

https://doi.org/10.1038/s10038-020-0780-4 Actions

Clinical and technical assessment of MedExome vs. NGS panels in patients with suspected genetic disorders in Southwestern Ontario

JOURNAL ARTICLE published May 2021 in Journal of Human Genetics

Authors: Erfan Aref-Eshghi | Jennifer Kerkhof | Deana Alexis Carere | Michael Volodarsky | Pratibha Bhai | Samantha Colaiacovo | Maha Saleh | Michelle Caudle | Natalya Karp | Chitra Prasad | Tugce Balci | Hanxin Lin | Craig Campbell | Victoria Mok Siu | Bekim Sadikovic

https://doi.org/10.1038/s10038-020-00860-3 Actions

Identification of small-sized intrachromosomal segments at the ends of INV–DUP–DEL patterns

JOURNAL ARTICLE published November 2023 in Journal of Human Genetics

Authors: Keiko Shimojima Yamamoto | Takeaki Tamura | Nobuhiko Okamoto | Eriko Nishi | Atsuko Noguchi | Ikuko Takahashi | Yukio Sawaishi | Masaki Shimizu | Hitoshi Kanno | Yohei Minakuchi | Atsushi Toyoda | Toshiyuki Yamamoto

https://doi.org/10.1038/s10038-023-01181-x Actions

Identification of a missense variant of MND1 in meiotic arrest and non-obstructive azoospermia

JOURNAL ARTICLE published November 2023 in Journal of Human Genetics

Authors: Jingpeng Zhao | Zhiyong Ji | Guiquan Meng | Jiaqiang Luo | Yuxiang Zhang | Ningjing Ou | Haowei Bai | Ruhui Tian | Erlei Zhi | Yuhua Huang | Nachuan Liu | Wenbin He | Yueqiu Tan | Zheng Li | Chencheng Yao | Peng Li

https://doi.org/10.1038/s10038-023-01172-y 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

Making a haplotype catalog with estimated frequencies based on SNP homozygotes

JOURNAL ARTICLE published August 2010 in Journal of Human Genetics

Authors: Yumi Yamaguchi-Kabata | Tatsuhiko Tsunoda | Atsushi Takahashi | Naoya Hosono | Michiaki Kubo | Yusuke Nakamura | Naoyuki Kamatani

https://doi.org/10.1038/jhg.2010.56 Actions

Three novel mutations in the carnitine–acylcarnitine translocase (CACT) gene in patients with CACT deficiency and in healthy individuals

JOURNAL ARTICLE published December 2013 in Journal of Human Genetics

Authors: Takao Fukushima | Hidetoshi Kaneoka | Tetsuhiko Yasuno | Yukari Sasaguri | Tomoko Tokuyasu | Kuniko Tokoro | Toshiyuki Fukao | Takao Saito

https://doi.org/10.1038/jhg.2013.103 Actions

A single-nucleotide polymorphism in the human bone morphogenetic protein-4 (BMP 4) gene

JOURNAL ARTICLE published January 1999 in Journal of Human Genetics

Authors: Massimo Mangino | Isabella Torrente | Alessandro De Luca | Otto Sanchez | Bruno Dallapiccola | Giuseppe Novelli

https://doi.org/10.1007/s100380050113 Actions

Cloning, expression analysis, and chromosomal localization of a novel butyrophilin-like receptor

JOURNAL ARTICLE published July 1999 in Journal of Human Genetics

Authors: Akiko Shibui | Takeshi Tsunoda | Naohiko Seki | Yutaka Suzuki | S. Sugano | Kazuo Sugane

https://doi.org/10.1007/s100380050153 Actions

Four single-nucleotide polymorphisms in the human BUB1 gene

JOURNAL ARTICLE published 19 March 2001 in Journal of Human Genetics

Authors: T. Kanbe | T. Nobukuni | H. Kawasaki | T. Sekiya | Y. Murakami

https://doi.org/10.1007/s100380170103 Actions

LRRTM4-C538Y novel gene mutation is associated with hereditary macular degeneration with novel dysfunction of ON-type bipolar cells

JOURNAL ARTICLE published August 2018 in Journal of Human Genetics

Authors: Yuichi Kawamura | Akiko Suga | Takuro Fujimaki | Kazutoshi Yoshitake | Kazushige Tsunoda | Akira Murakami | Takeshi Iwata

https://doi.org/10.1038/s10038-018-0465-4 Actions

Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic

JOURNAL ARTICLE published December 2018 in Journal of Human Genetics

Authors: Kohei Hamanaka | Satoko Miyatake | Ayelet Zerem | Dorit Lev | Luba Blumkin | Kenji Yokochi | Atsushi Fujita | Eri Imagawa | Kazuhiro Iwama | Mitsuko Nakashima | Satomi Mitsuhashi | Takeshi Mizuguchi | Atsushi Takata | Noriko Miyake | Hirotomo Saitsu | Marjo S. van der Knaap | Tally Lerman-Sagie | Naomichi Matsumoto

https://doi.org/10.1038/s10038-018-0516-x Actions

A novel PAK1 variant causative of neurodevelopmental disorder with postnatal macrocephaly

JOURNAL ARTICLE published May 2020 in Journal of Human Genetics

Authors: Sachiko Ohori | Satomi Mitsuhashi | Revital Ben-Haim | Eli Heyman | Toru Sengoku | Kazuhiro Ogata | Naomichi Matsumoto

https://doi.org/10.1038/s10038-020-0728-8 Actions
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