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Showing results for ISSN matching 1434-5161

Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features

JOURNAL ARTICLE published March 2016 in Journal of Human Genetics

Authors: Iris HIM Hollink | Majid Alfadhel | Anwar S Al-Wakeel | Farough Ababneh | Rolph Pfundt | Stella A de Man | Rami Abou Jamra | Arndt Rolfs | Aida M Bertoli-Avella | Ingrid MBH van de Laar

https://doi.org/10.1038/jhg.2015.134 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

Noncoding RNAs: a new fine-tuner is a key player of human pathogenesis

JOURNAL ARTICLE published January 2017 in Journal of Human Genetics

Authors: Naohiko Seki | Akira Hata

https://doi.org/10.1038/jhg.2016.140 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

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

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

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

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

Genetic structures of the Tibetans and the Deng people in the Himalayas viewed from autosomal STRs

JOURNAL ARTICLE published May 2010 in Journal of Human Genetics

Authors: Longli Kang | Shilin Li | Sameer Gupta | Yingang Zhang | Kai Liu | Jianmin Zhao | Li Jin | Hui Li

https://doi.org/10.1038/jhg.2010.21 Actions

Verification and rectification of cell type-specific splicing of a Seckel syndrome-associated ATR mutation using iPS cell model

JOURNAL ARTICLE published May 2019 in Journal of Human Genetics

Research funded by MEXT | Japan Society for the Promotion of Science (16673093,17J08574) | Japan Agency for Medical Research and Development (17935244)

Authors: Jose Ichisima | Naoya M. Suzuki | Bumpei Samata | Tomonari Awaya | Jun Takahashi | Masatoshi Hagiwara | Tatsutoshi Nakahata | Megumu K. Saito

https://doi.org/10.1038/s10038-019-0574-8 Actions

ATP6V0C gene variants were identified in individuals with epilepsy, with or without developmental delay

JOURNAL ARTICLE published September 2023 in Journal of Human Genetics

Authors: Siyu Zhao | Xiaoling Zhang | Le Yang | Yan Wang | ShanShan Jia | Xia Li | Zhijing Wang | Fan Yang | Mengmeng Liang | Xiuxia Wang | Dong Wang

https://doi.org/10.1038/s10038-023-01145-1 Actions

The utility of post-test newborn blood spot screening cards for epigenetic association analyses: association between HIF3A methylation and birth weight-for-gestational age

JOURNAL ARTICLE published August 2019 in Journal of Human Genetics

Research funded by MEXT | Japan Society for the Promotion of Science (JP17K10174)

Authors: Tay Zar Kyaw | Seiji Yamaguchi | Chihiro Imai | Marina Uematsu | Noriko Sato

https://doi.org/10.1038/s10038-019-0621-5 Actions

Gastrointestinal cancer occurs as extramuscular manifestation in FSHD1 patients

JOURNAL ARTICLE published February 2023 in Journal of Human Genetics

Authors: Takashi Kurashige | Hiroyuki Morino | Hiroki Ueno | Tomomi Murao | Tomoaki Watanabe | Takao Hinoi | Ichizo Nishino | Tsuyoshi Torii | Hirofumi Maruyama

https://doi.org/10.1038/s10038-022-01095-0 Actions

Angelman syndrome with mosaic paternal uniparental disomy suggestive of mitotic nondisjunction

JOURNAL ARTICLE published February 2023 in Journal of Human Genetics

Authors: Masanori Fujimoto | Yuji Nakamura | Toshihiko Iwaki | Emi Sato | Daisuke Ieda | Ayako Hattori | Anna Shiraki | Seiji Mizuno | Shinji Saitoh

https://doi.org/10.1038/s10038-022-01088-z Actions

X-linked adrenoleukodystrophy: Diagnostic and follow-up system in Japan

JOURNAL ARTICLE published February 2011 in Journal of Human Genetics

Authors: Nobuyuki Shimozawa | Ayako Honda | Naomi Kajiwara | Sachi Kozawa | Tomoko Nagase | Yasuhiko Takemoto | Yasuyuki Suzuki

https://doi.org/10.1038/jhg.2010.139 Actions

Subtelomeric deletions of 1q43q44 and severe brain impairment associated with delayed myelination

JOURNAL ARTICLE published September 2012 in Journal of Human Genetics

Authors: Keiko Shimojima | Nobuhiko Okamoto | Yume Suzuki | Mari Saito | Masato Mori | Tatanori Yamagata | Mariko Y Momoi | Hideji Hattori | Yoshiyuki Okano | Ken Hisata | Akihisa Okumura | Toshiyuki Yamamoto

https://doi.org/10.1038/jhg.2012.77 Actions

A TP53-truncating germline mutation (E287X) in a family with characteristics of both hereditary diffuse gastric cancer and Li-Fraumeni syndrome

JOURNAL ARTICLE published November 2004 in Journal of Human Genetics

Authors: Il-Jin Kim | Hio Chung Kang | Yong Shin | Hye-Won Park | Sang-Geun Jang | Song-Yee Han | Sun-Kyung Lim | Min Ro Lee | Hee Jin Chang | Ja-Lok Ku | Han-Kwang Yang | Jae-Gahb Park

https://doi.org/10.1007/s10038-004-0193-9 Actions
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