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Showing results for ISSN matching 1434-5161

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

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

Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome

JOURNAL ARTICLE published May 2019 in Journal of Human Genetics

Research funded by Japan Agency for Medical Research and Development (18gk0110012h0101)

Authors: Hitomi Shimizu | Satoshi Watanabe | Akira Kinoshita | Hiroyuki Mishima | Gen Nishimura | Hiroyuki Moriuchi | Koh-ichiro Yoshiura | Sumito Dateki

https://doi.org/10.1038/s10038-019-0581-9 Actions

Identification of two novel de novo TUBB variants in cases with brain malformations: case reports and literature review

JOURNAL ARTICLE published December 2021 in Journal of Human Genetics

Authors: Kazuki Watanabe | Mitsuko Nakashima | Satoko Kumada | Hideaki Mashimo | Mikako Enokizono | Keitaro Yamada | Mitsuhiro Kato | Hirotomo Saitsu

https://doi.org/10.1038/s10038-021-00956-4 Actions

Fanconi anemia in Tunisia: high prevalence of group A and identification of new FANCA mutations

JOURNAL ARTICLE published July 2003 in Journal of Human Genetics

Authors: Chiraz Bouchlaka | The Tunisian Fanconi Anemia Study Group | Sonia Abdelhak | Ahlem Amouri | Hela Ben Abid | Sondes Hadiji | Mounir Frikha | Tarek Ben Othman | Fethi Amri | Hammadi Ayadi | Mongia Hachicha | Ahmed Rebaï | Ali Saad | Koussay Dellagi

https://doi.org/10.1007/s10038-003-0037-z Actions

Evaluation of genetic loci influencing adult height in the Japanese population

JOURNAL ARTICLE published December 2009 in Journal of Human Genetics

Authors: Fumihiko Takeuchi | Toru Nabika | Masato Isono | Tomohiro Katsuya | Takao Sugiyama | Shuhei Yamaguchi | Shotai Kobayashi | Yukio Yamori | Toshio Ogihara | Norihiro Kato

https://doi.org/10.1038/jhg.2009.99 Actions

Molecular and clinical studies of X-linked deafness among Pakistani families

JOURNAL ARTICLE published July 2011 in Journal of Human Genetics

Authors: Ali M Waryah | Zubair M Ahmed | Munir A Binder | Daniel I Choo | Robert A Sisk | Mohsin Shahzad | Shaheen N Khan | Thomas B Friedman | Sheikh Riazuddin | Saima Riazuddin

https://doi.org/10.1038/jhg.2011.55 Actions

Meta-analysis of genome-wide association scans for genetic susceptibility to endometriosis in Japanese population

JOURNAL ARTICLE published December 2010 in Journal of Human Genetics

Authors: Sosuke Adachi | Atsushi Tajima | Jinhua Quan | Kazufumi Haino | Kosuke Yoshihara | Hideaki Masuzaki | Hidetaka Katabuchi | Kenichiro Ikuma | Hiroshi Suginami | Nao Nishida | Ryozo Kuwano | Yuji Okazaki | Yoshiya Kawamura | Tsukasa Sasaki | Katsushi Tokunaga | Ituro Inoue | Kenichi Tanaka

https://doi.org/10.1038/jhg.2010.118 Actions

An atypical case of SPG56/CYP2U1-related spastic paraplegia presenting with delayed myelination

JOURNAL ARTICLE published November 2017 in Journal of Human Genetics

Authors: Gaku Minase | Satoko Miyatake | Shin Nabatame | Hiroshi Arai | Eriko Koshimizu | Takeshi Mizuguchi | Mitsuko Nakashima | Noriko Miyake | Hirotomo Saitsu | Toshinobu Miyamoto | Kazuo Sengoku | Naomichi Matsumoto

https://doi.org/10.1038/jhg.2017.77 Actions

Comparison between CaGene 5.1 and 6.0 for BRCA1/2 mutation prediction: a retrospective study of 150 BRCA1/2 genetic tests in 517 families with breast/ovarian cancer

JOURNAL ARTICLE published March 2017 in Journal of Human Genetics

Authors: Ivana Antonucci | Martina Provenzano | Luca Sorino | Michela Balsamo | Gitana Maria Aceto | Pasquale Battista | David Euhus | Ettore Cianchetti | Patrizia Ballerini | Clara Natoli | Giandomenico Palka | Liborio Stuppia

https://doi.org/10.1038/jhg.2016.138 Actions

Familial total anomalous pulmonary venous return with 15q11.2 (BP1-BP2) microdeletion

JOURNAL ARTICLE published November 2018 in Journal of Human Genetics

Authors: Yukiko Kuroda | Ikuko Ohashi | Takuya Naruto | Kazumi Ida | Yumi Enomoto | Toshiyuki Saito | Jun-ichi Nagai | Sadamitsu Yanagi | Hideaki Ueda | Kenji Kurosawa

https://doi.org/10.1038/s10038-018-0499-7 Actions

Molecular genealogy of Tusi Lu’s family reveals their paternal relationship with Jochi, Genghis Khan’s eldest son

JOURNAL ARTICLE published August 2019 in Journal of Human Genetics

Research funded by National Natural Science Foundation of China (91731303,31771325,91631105,81671874,31760309) | China Postdoctoral Science Foundation (191908)

Authors: Shao-Qing Wen | Hong-Bing Yao | Pan-Xin Du | Lan-Hai Wei | Xin-Zhu Tong | Ling-Xiang Wang | Chuan-Chao Wang | Bo-Yan Zhou | Mei-Sen Shi | Maxat Zhabagin | Jiucun Wang | Dan Xu | Li Jin | Hui Li

https://doi.org/10.1038/s10038-019-0618-0 Actions

Genome sequencing and RNA sequencing of urinary cells reveal an intronic FBN1 variant causing aberrant splicing

JOURNAL ARTICLE published July 2022 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 | Sachiko Miyamoto | Kazushi Aoto | Mitsuko Nakashima | Tomomi Yamaguchi | Tomoki Kosho | Tsutomu Ogata | Hirotomo Saitsu

https://doi.org/10.1038/s10038-022-01016-1 Actions

Mitogenomics of the Koryaks and Evens of the northern coast of the Sea of Okhotsk

JOURNAL ARTICLE published October 2023 in Journal of Human Genetics

Research funded by Russian Science Foundation (22-24-00264,22-24-00264)

Authors: Miroslava Derenko | Galina Denisova | Andrey Litvinov | Irina Dambueva | Boris Malyarchuk

https://doi.org/10.1038/s10038-023-01173-x Actions

Y-chromosome diversity in the Kalmyks at the ethnical and tribal levels

JOURNAL ARTICLE published December 2013 in Journal of Human Genetics

Authors: Boris Malyarchuk | Miroslava Derenko | Galina Denisova | Sanj Khoyt | Marcin Woźniak | Tomasz Grzybowski | Ilya Zakharov

https://doi.org/10.1038/jhg.2013.108 Actions

Genetic background of Japanese patients with pediatric hypertrophic and restrictive cardiomyopathy

JOURNAL ARTICLE published September 2018 in Journal of Human Genetics

Research funded by Japan Society for the Promotion of Science (26460407,17K08684,15K15095,16H05296)

Authors: Takeharu Hayashi | Kousuke Tanimoto | Kayoko Hirayama-Yamada | Etsuko Tsuda | Mamoru Ayusawa | Shinichi Nunoda | Akira Hosaki | Akinori Kimura

https://doi.org/10.1038/s10038-018-0479-y Actions

The Tol1 transposable element of the medaka fish moves in human and mouse cells

JOURNAL ARTICLE published July 2007 in Journal of Human Genetics

Authors: Akihiko Koga | Atsuko Shimada | Toshiya Kuroki | Hiroshi Hori | Junko Kusumi | Yoriko Kyono-Hamaguchi | Satoshi Hamaguchi

https://doi.org/10.1007/s10038-007-0161-2 Actions

Comparison of mitochondrial DNA variants detection using short- and long-read sequencing

JOURNAL ARTICLE published November 2019 in Journal of Human Genetics

Research funded by Japan Agency for Medical Research and Development (JP18ek0109280,JP18dm0107090,JP18ek0109301,JP18ek0109348,JP18kk020501)

Authors: Ahmed N. Alkanaq | Kohei Hamanaka | Futoshi Sekiguchi | Masataka Taguri | Atsushi Takata | Noriko Miyake | Satoko Miyatake | Takeshi Mizuguchi | Naomichi Matsumoto

https://doi.org/10.1038/s10038-019-0654-9 Actions

Eosinophil infiltration in three patients with generalized atrophic benign epidermolysis bullosa from a Japanese family: molecular genetic and immunohistochemical studies

JOURNAL ARTICLE published September 2005 in Journal of Human Genetics

Authors: Masayo Nomura | Yoh-ichiro Hamasaki | Ichiro Katayama | Kuniko Abe | Norio Niikawa | Koh-ichiro Yoshiura

https://doi.org/10.1007/s10038-005-0282-4 Actions

Case–control association study of 59 candidate genes reveals the DRD2 SNP rs6277 (C957T) as the only susceptibility factor for schizophrenia in the Bulgarian population

JOURNAL ARTICLE published February 2009 in Journal of Human Genetics

Authors: Elitza T Betcheva | Taisei Mushiroda | Atsushi Takahashi | Michiaki Kubo | Sena K Karachanak | Irina T Zaharieva | Radoslava V Vazharova | Ivanka I Dimova | Vihra K Milanova | Todor Tolev | George Kirov | Michael J Owen | Michael C O'Donovan | Naoyuki Kamatani | Yusuke Nakamura | Draga I Toncheva

https://doi.org/10.1038/jhg.2008.14 Actions
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