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Showing results for ISSN matching 1434-5161

Methylenetetrahydrofolate reductase gene polymorphisms and lung cancer: a meta-analysis

JOURNAL ARTICLE published April 2008 in Journal of Human Genetics

Authors: Renfang Mao | Yihui Fan | Yan Jin | Jing Bai | Songbin Fu

https://doi.org/10.1007/s10038-008-0262-6 Actions

Extracellular matrix remodeling genes polymorphisms and risk of chronic bronchitis and recurrent pneumonia in children

JOURNAL ARTICLE published July 2013 in Journal of Human Genetics

Authors: Gulnaz Faritovna Korytina | Leysan Zinurovna Akhmadishina | Elena Vitalievna Viktorova | Olga Sergeevna Tselousova | Ksenia Vladimirovna Danilko | Olga Vladimirovna Kochetova | Tatyana Victorovna Viktorova

https://doi.org/10.1038/jhg.2013.24 Actions

Combined effect of longevity-associated mitochondrial DNA 5178 C/A polymorphism and coffee consumption on the risk of hyper-LDL cholesterolemia in middle-aged Japanese men

JOURNAL ARTICLE published September 2010 in Journal of Human Genetics

Authors: Akatsuki Kokaze | Mamoru Ishikawa | Naomi Matsunaga | Kanae Karita | Masao Yoshida | Naoki Shimada | Tadahiro Ohtsu | Takako Shirasawa | Hirotaka Ochiai | Teruyoshi Kawamoto | Taku Ito | Hiromi Hoshino | Yutaka Takashima

https://doi.org/10.1038/jhg.2010.71 Actions

A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general population

JOURNAL ARTICLE published February 2019 in Journal of Human Genetics

Authors: Víctor Faundes | Geraldine Malone | William G. Newman | Siddharth Banka

https://doi.org/10.1038/s10038-018-0536-6 Actions

MicroRNAs in non-small cell lung cancer and idiopathic pulmonary fibrosis

JOURNAL ARTICLE published January 2017 in Journal of Human Genetics

Authors: Keiko Mizuno | Hiroko Mataki | Naohiko Seki | Tomohiro Kumamoto | Kazuto Kamikawaji | Hiromasa Inoue

https://doi.org/10.1038/jhg.2016.98 Actions

Association of polymorphisms in the RAGE gene with serum CRP levels and coronary artery disease in the Chinese Han population

JOURNAL ARTICLE published October 2010 in Journal of Human Genetics

Authors: Jinxiong Gao | Yahui Shao | Wenyan Lai | Hao Ren | Dingli Xu

https://doi.org/10.1038/jhg.2010.85 Actions

New diagnosis of atypical ataxia-telangiectasia in a 17-year-old boy with T-cell acute lymphoblastic leukemia and a novel ATM mutation

JOURNAL ARTICLE published May 2017 in Journal of Human Genetics

Authors: Jasmin Roohi | Jennifer Crowe | Denis Loredan | Kwame Anyane-Yeboa | Mahesh M Mansukhani | Lenore Omesi | Jennifer Levine | Anya Revah Politi | Shan Zha

https://doi.org/10.1038/jhg.2017.6 Actions

The genetic and clinical characteristics of aromatic L-amino acid decarboxylase deficiency in mainland China

JOURNAL ARTICLE published September 2020 in Journal of Human Genetics

Research funded by Ministry of Health of China | Wu Jieping Medical Foundation (320.6750.17091)

Authors: Yongxin Wen | Jiaping Wang | Qingping Zhang | Yan Chen | Xinhua Bao

https://doi.org/10.1038/s10038-020-0770-6 Actions

Carnitine palmitoyltransferase II deficiency with a focus on newborn screening

JOURNAL ARTICLE published February 2019 in Journal of Human Genetics

Authors: Go Tajima | Keiichi Hara | Miori Yuasa

https://doi.org/10.1038/s10038-018-0530-z 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

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

Contribution of MSX1 variants to the risk of non-syndromic cleft lip and palate in a Malay population

JOURNAL ARTICLE published November 2011 in Journal of Human Genetics

Authors: Iman Salahshourifar | Ahmad Sukari Halim | Wan Azman Wan Sulaiman | Bin Alwi Zilfalil

https://doi.org/10.1038/jhg.2011.95 Actions

Molecular cloning and expression analysis of the human DA41 gene and its mapping to chromosome 9q21.2–q21.3

JOURNAL ARTICLE published May 2000 in Journal of Human Genetics

Authors: E. Hanaoka | T. Ozaki | M. Ohira | Y. Nakamura | M. Suzuki | E. Takahashi | H. Moriya | A. Nakagawara | S. Sakiyama

https://doi.org/10.1007/s100380050209 Actions

Factor V Leiden mutation in Arabs in Kuwait by real-time PCR: different values for different Arabs

JOURNAL ARTICLE published April 2010 in Journal of Human Genetics

Authors: Ali A Dashti | Mehrez M Jadaon | Hend L Lewis

https://doi.org/10.1038/jhg.2010.11 Actions

Molecular mechanisms determining severity in patients with Pierson syndrome

JOURNAL ARTICLE published April 2020 in Journal of Human Genetics

Authors: Shogo Minamikawa | Saori Miwa | Tetsuji Inagaki | Kei Nishiyama | Hiroshi Kaito | Takeshi Ninchoji | Tomohiko Yamamura | China Nagano | Nana Sakakibara | Shingo Ishimori | Shigeo Hara | Norishige Yoshikawa | Daishi Hirano | Ryoko Harada | Riku Hamada | Natsuki Matsunoshita | Michio Nagata | Yuko Shima | Koichi Nakanishi | Hiroaki Nagase | Hiroki Takeda | Naoya Morisada | Kazumoto Iijima | Kandai Nozu

https://doi.org/10.1038/s10038-019-0715-0 Actions

The association of Y chromosome haplogroups with spermatogenic failure in the Han Chinese

JOURNAL ARTICLE published August 2007 in Journal of Human Genetics

Authors: Chuncheng Lu | Feng Zhang | Yankai Xia | Bin Wu | Aihua Gu | Ningxia Lu | Shoulin Wang | Hongbing Shen | Li Jin | Xinru Wang

https://doi.org/10.1007/s10038-007-0160-3 Actions

A new association of PAX6 variation with Juvenile onset open angle glaucoma

JOURNAL ARTICLE published May 2023 in Journal of Human Genetics

Research funded by Indian Council of Medical Research (ISRM/12(58)/2019)

Authors: Viney Gupta | Bindu I. Somarajan | Shikha Gupta | Karthikeyan Mahalingam | Abhishek Singh | Arundhati Sharma

https://doi.org/10.1038/s10038-022-01115-z Actions

Germline mutations causing familial lung cancer

JOURNAL ARTICLE published October 2015 in Journal of Human Genetics

Authors: Koichi Tomoshige | Keitaro Matsumoto | Tomoshi Tsuchiya | Masahiro Oikawa | Takuro Miyazaki | Naoya Yamasaki | Hiroyuki Mishima | Akira Kinoshita | Toru Kubo | Kiyoyasu Fukushima | Koh-ichiro Yoshiura | Takeshi Nagayasu

https://doi.org/10.1038/jhg.2015.75 Actions

Genetic variation in populations from central Argentina based on mitochondrial and Y chromosome DNA evidence

JOURNAL ARTICLE published April 2018 in Journal of Human Genetics

Authors: Angelina García | Maia Pauro | Graciela Bailliet | Claudio M. Bravi | Darío A. Demarchi

https://doi.org/10.1038/s10038-017-0406-7 Actions

Autosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: extensive accumulation of the splice site mutation IVS1+1G>A in GJB2 gene as a result of founder effect

JOURNAL ARTICLE published September 2011 in Journal of Human Genetics

Authors: Nikolay A Barashkov | Lilya U Dzhemileva | Sardana A Fedorova | Fedor M Teryutin | Olga L Posukh | Elvira E Fedotova | Simeon L Lobov | Elza K Khusnutdinova

https://doi.org/10.1038/jhg.2011.72 Actions
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