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Showing results for ISSN matching 1434-5161

Reproductive attitudes of couples having a child with cystic fibrosis in Brittany (France)

JOURNAL ARTICLE published June 2004 in Journal of Human Genetics

Authors: Marc De Braekeleer | Gilles Rault | Gil Bellis

https://doi.org/10.1007/s10038-004-0147-2 Actions

Author Correction: Testing the key assumption of heritability estimates based on genome-wide genetic relatedness

JOURNAL ARTICLE published June 2019 in Journal of Human Genetics

Authors: Dalton Conley | Mark L. Siegal | Benjamin W. Domingue | Kathleen Mullan Harris | Matthew B. McQueen | Jason D. Boardman

https://doi.org/10.1038/s10038-019-0593-5 Actions

Pseudogenization of testis-specific Lfg5 predates human/Neanderthal divergence

JOURNAL ARTICLE published May 2014 in Journal of Human Genetics

Authors: Marco Mariotti | Temple F Smith | Peter H Sudmant | Gabriel Goldberger

https://doi.org/10.1038/jhg.2014.6 Actions

IGF -I (CA) repeat polymorphisms and risk of cancer: a meta-analysis

JOURNAL ARTICLE published March 2008 in Journal of Human Genetics

Authors: Xin Chen | Jianming Guan | Yuting Song | Peilin Chen | Hongxia Zheng | Cheng Tang | Qihan Wu

https://doi.org/10.1007/s10038-007-0241-3 Actions

Angiogenesis related genes in Takayasu Arteritis (TAK): robust association with Tag SNPs of IL-18 and FGF-2 in a South Asian Cohort

JOURNAL ARTICLE published January 2024 in Journal of Human Genetics

Research funded by DST | Science and Engineering Research Board (SB/SO/HS/170/2013)

Authors: Debashish Danda | Ruchika Goel | Jayakanthan Kabeerdoss | Celi Sun | Sumita Danda | Anisea Lincy Franklin | George Joseph | Swapan K. Nath

https://doi.org/10.1038/s10038-023-01198-2 Actions

Preimplantation genetic testing using comprehensive genomic copy number analysis is beneficial for balanced translocation carriers

JOURNAL ARTICLE published January 2024 in Journal of Human Genetics

Authors: Aya Yamazaki | Tomoko Kuroda | Nami Kawasaki | Keiichi Kato | Keiko Shimojima Yamamoto | Takeshi Iwasa | Akira Kuwahara | Yuka Taniguchi | Toshiyuki Takeshita | Yosuke Kita | Mikio Mikami | Minoru Irahara | Toshiyuki Yamamoto

https://doi.org/10.1038/s10038-023-01202-9 Actions

p53 Arg72Pro and MDM2 309 SNPs in hereditary retinoblastoma

JOURNAL ARTICLE published September 2011 in Journal of Human Genetics

Authors: Maria Carmela Epistolato | Vittoria Disciglio | Gabriella Livide | Paola Berchialla | Maria Antonietta Mencarelli | Annabella Marozza | Mariangela Amenduni | Theodora Hadjistilianou | Sonia De Francesco | Antonio Acquaviva | Paolo Toti | Francesco Cetta | Francesca Ariani | Mario De Marchi | Alessandra Renieri | Daniela Giachino

https://doi.org/10.1038/jhg.2011.82 Actions

Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: Identification of 17 novel mutations and its genetic heterogeneity

JOURNAL ARTICLE published April 2008 in Journal of Human Genetics

Authors: Chloe Miu Mak | Ching-Wan Lam | Sidney Tam | Ching-Lung Lai | Lik-Yuen Chan | Sheung-Tat Fan | Yu-Lung Lau | Sik-To Lai | Patrick Yuen | Joannie Hui | Chun-Cheung Fu | Ka-Sing Wong | Wing-Lai Mak | Kong Tze | Sui-Fan Tong | Abby Lau | Nancy Leung | Aric Hui | Ka-Ming Cheung | Chun-Hung Ko | Yiu-Ki Chan | Oliver Ma | Tai-Nin Chau | Alexander Chiu | Yan-Wo Chan

https://doi.org/10.1007/s10038-007-0244-0 Actions

A one-base deletion (183delC) and a missense mutation (D276H) in the T-protein gene from a Japanese family with nonketotic hyperglycinemia

JOURNAL ARTICLE published June 1998 in Journal of Human Genetics

Authors: S. Kure | Toshikatsu Shinka | Yoshiyuki Sakata | Narasaki Osamu | Masaru Takayanagi | Keiya Tada | Yoichi Matsubara | Kuniaki Narisawa

https://doi.org/10.1007/s100380050055 Actions

Diagnosis of Japanese patients with HHH syndrome by molecular genetic analysis: a common mutation, R179X

JOURNAL ARTICLE published April 2001 in Journal of Human Genetics

Authors: T. Miyamoto | N. Kanazawa | S. Kato | M. Kawakami | Y. Inoue | T. Kuhara | T. Inoue | K. Takeshita | S. Tsujino

https://doi.org/10.1007/s100380170075 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

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

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

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
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