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Showing results for ISSN matching 1434-5161

Study of structural chromosome abnormalities to increase the understanding of human genetic diversity: a commentary on signature of backward replication slippage at the copy number variation junction

JOURNAL ARTICLE published November 2014 in Journal of Human Genetics

Authors: Keiko Wakui

https://doi.org/10.1038/jhg.2014.83 Actions

Erratum: New native South American Y chromosome lineages

JOURNAL ARTICLE published July 2016 in Journal of Human Genetics

Authors: Marilza S Jota | The Genographic Consortium | Daniela R Lacerda | José R Sandoval | Pedro Paulo R Vieira | Dominique Ohasi | José E Santos-Júnior | Oscar Acosta | Cinthia Cuellar | Susana Revollo | Cesar Paz-y-Miño | Ricardo Fujita | Gustavo A Vallejo | Theodore G Schurr | Eduardo M Tarazona-Santos | Sergio DJ Pena | Qasim Ayub | Chris Tyler-Smith | Fabrício R Santos

https://doi.org/10.1038/jhg.2016.43 Actions

A survey of the population genetic variation in the human kinome

JOURNAL ARTICLE published August 2009 in Journal of Human Genetics

Authors: Wei Zhang | Daniel V T Catenacci | Shiwei Duan | Mark J Ratain

https://doi.org/10.1038/jhg.2009.72 Actions

A commentary on Implication of gene copy number variation in health and diseases

JOURNAL ARTICLE published February 2012 in Journal of Human Genetics

Authors: Tadashi Kaname

https://doi.org/10.1038/jhg.2011.140 Actions

Novel autosomal recessive non-syndromic hearing impairment locus (DFNB71) maps to chromosome 8p22–21.3

JOURNAL ARTICLE published March 2009 in Journal of Human Genetics

Authors: Muhammad Salman Chishti | Kwanghyuk Lee | Merry-Lynn McDonald | Muhammad Jawad Hassan | Muhammad Ansar | Wasim Ahmad | Suzanne M Leal

https://doi.org/10.1038/jhg.2009.2 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

Novel and recurrent EMD mutations in patients with Emery–Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot

JOURNAL ARTICLE published August 2011 in Journal of Human Genetics

Authors: Charlotte A Brown | Juergen Scharner | Kevin Felice | Matthew N Meriggioli | Mark Tarnopolsky | Matthew Bower | Peter S Zammit | Jerry R Mendell | Juliet A Ellis

https://doi.org/10.1038/jhg.2011.65 Actions

A novel nonsense PKD1L1 variant cause heterotaxy syndrome with congenital asplenia in a Han Chinese patient

JOURNAL ARTICLE published October 2022 in Journal of Human Genetics

Authors: Heng Gu | Zhuang-Zhuang Yuan | Xiao-Hui Xie | Yi-Feng Yang | Zhi-Ping Tan

https://doi.org/10.1038/s10038-022-01053-w Actions

Single-nucleotide polymorphisms in the promoter of the CDK5 gene and lung cancer risk in a Korean population

JOURNAL ARTICLE published May 2009 in Journal of Human Genetics

Authors: Hyo Seon Choi | Youngin Lee | Kyong Hwa Park | Jae Sook Sung | Jong-Eun Lee | Eun-Soon Shin | Jeong-Seon Ryu | Yeul Hong Kim

https://doi.org/10.1038/jhg.2009.29 Actions

Comprehensive DNA methylation analysis of peripheral blood cells derived from patients with first-episode schizophrenia

JOURNAL ARTICLE published February 2013 in Journal of Human Genetics

Authors: Masaki Nishioka | Miki Bundo | Shinsuke Koike | Ryu Takizawa | Chihiro Kakiuchi | Tsuyoshi Araki | Kiyoto Kasai | Kazuya Iwamoto

https://doi.org/10.1038/jhg.2012.140 Actions

The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States

JOURNAL ARTICLE published February 2017 in Journal of Human Genetics

Authors: Hemakumar M Reddy | Kyung-Ah Cho | Monkol Lek | Elicia Estrella | Elise Valkanas | Michael D Jones | Satomi Mitsuhashi | Basil T Darras | Anthony A Amato | Hart GW Lidov | Catherine A Brownstein | David M Margulies | Timothy W Yu | Mustafa A Salih | Louis M Kunkel | Daniel G MacArthur | Peter B Kang

https://doi.org/10.1038/jhg.2016.116 Actions

Impaired interactions between mouse Eya1 harboring mutations found in patients with branchio-oto-renal syndrome and Six, Dach, and G proteins

JOURNAL ARTICLE published March 2002 in Journal of Human Genetics

Authors: H. Ozaki | Y. Watanabe | K. Ikeda | K. Kawakami

https://doi.org/10.1007/s100380200011 Actions

Erratum: PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder

JOURNAL ARTICLE published May 2017 in Journal of Human Genetics

Authors: Takeshi Mizuguchi | Mitsuko Nakashima | Mitsuhiro Kato | Keitaro Yamada | Tohru Okanishi | Nina Ekhilevitch | Hanna Mandel | Ayelet Eran | Miyuki Toyono | Yukio Sawaishi | Hirotaka Motoi | Masaaki Shiina | Kazuhiro Ogata | Satoko Miyatake | Noriko Miyake | Hirotomo Saitsu | Naomichi Matsumoto

https://doi.org/10.1038/jhg.2017.13 Actions

A novel activating mutation (C129S) in the calcium-sensing receptor gene in a Japanese family with autosomal dominant hypocalcemia

JOURNAL ARTICLE published January 2001 in Journal of Human Genetics

Authors: H. Hirai | S. Nakajima | A. Miyauchi | K. Nishimura | N. Shimizu | M. Shima | T. Michigami | K. Ozono | S. Okada

https://doi.org/10.1007/s100380170124 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

Characterization of contiguous gene deletions in COL4A6 and COL4A5 in Alport syndrome-diffuse leiomyomatosis

JOURNAL ARTICLE published July 2017 in Journal of Human Genetics

Authors: Kandai Nozu | Shogo Minamikawa | Shiro Yamada | Masafumi Oka | Motoko Yanagita | Naoya Morisada | Shuichiro Fujinaga | China Nagano | Yoshimitsu Gotoh | Eihiko Takahashi | Takahiro Morishita | Tomohiko Yamamura | Takeshi Ninchoji | Hiroshi Kaito | Ichiro Morioka | Koichi Nakanishi | Igor Vorechovsky | Kazumoto Iijima

https://doi.org/10.1038/jhg.2017.28 Actions

Compound heterozygous GFM2 mutations with Leigh syndrome complicated by arthrogryposis multiplex congenita

JOURNAL ARTICLE published September 2015 in Journal of Human Genetics

Authors: Shinobu Fukumura | Chihiro Ohba | Toshihide Watanabe | Kimio Minagawa | Masaru Shimura | Kei Murayama | Akira Ohtake | Hirotomo Saitsu | Naomichi Matsumoto | Hiroyuki Tsutsumi

https://doi.org/10.1038/jhg.2015.57 Actions

Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome

JOURNAL ARTICLE published July 2017 in Journal of Human Genetics

Authors: Anju Shukla | Malavika Hebbar | Anshika Srivastava | Rajagopal Kadavigere | Priyanka Upadhyai | Anil Kanthi | Oliver Brandau | Stephanie Bielas | Katta M Girisha

https://doi.org/10.1038/jhg.2017.35 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

RET polymorphisms and the risk of Hirschsprung’s disease in a Chinese population

JOURNAL ARTICLE published September 2008 in Journal of Human Genetics

Authors: Cuiping Liu | Lei Jin | Hui Li | Jintu Lou | Chunfen Luo | Xuewu Zhou | Ji-Cheng Li

https://doi.org/10.1007/s10038-008-0315-x Actions
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