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

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

Testing the association of novel meta-analysis-derived diabetes risk genes with type II diabetes and related metabolic traits in Asian Indian Sikhs

JOURNAL ARTICLE published March 2009 in Journal of Human Genetics

Authors: Dharambir K Sanghera | Latonya Been | Lyda Ortega | Gurpreet S Wander | Narinder K Mehra | Christopher E Aston | John J Mulvihill | Sarju Ralhan

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

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

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

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

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

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

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

Quantitative analysis of methylation status at 11p15 and 7q21 for the genetic diagnosis of Beckwith–Wiedemann syndrome and Silver–Russell syndrome

JOURNAL ARTICLE published September 2013 in Journal of Human Genetics

Authors: Beom Hee Lee | Gu-Hwan Kim | Tae Jeong Oh | Joo Hyun Kim | Jin-Joo Lee | Seung Hoon Choi | Joo Yeon Lee | Jae-Min Kim | In Hee Choi | Yoo-Mi Kim | Jin-Ho Choi | Han-Wook Yoo

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

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

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

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

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

Proposal of pharmacogenetics-based warfarin dosing algorithm in Korean patients

JOURNAL ARTICLE published April 2011 in Journal of Human Genetics

Authors: Jung Ran Choi | Jeong-Oh Kim | Dae Ryong Kang | Seong-Ae Yoon | Jung-Young Shin | XiangHua Zhang | Mee Ork Roh | Hyung Joo Hong | Young-Pil Wang | Keon-Hyon Jo | Kwang-Soo Lee | Ho-Jung Yun | Yong-Seog Oh | Ki-Dong Yoo | Hee-Gyeong Jeon | Yoon Sook Lee | Tae Sun Kang | Hyun-Joo Park | Myeon Woo Chung | Jin-Hyoung Kang

Wnt signaling pathway involvement in genotypic and phenotypic variations in Waardenburg syndrome type 2 with MITF mutations

JOURNAL ARTICLE published May 2018 in Journal of Human Genetics

Authors: Xue-Ping Wang | Ya-Lan Liu | Ling-Yun Mei | Chu-Feng He | Zhi-Jie Niu | Jie Sun | Yu-lin Zhao | Yong Feng | Hua Zhang

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

Polymorphisms of transforming growth factor-β signaling pathway and Kawasaki disease in the Taiwanese population

JOURNAL ARTICLE published December 2011 in Journal of Human Genetics

Authors: Ho-Chang Kuo | Yoshihiro Onouchi | Yu-Wen Hsu | Wei-Chiao Chen | Jin-Ding Huang | Ying-Hsien Huang | Ya-Ling Yang | Mei-Chyn Chao | Hong-Ren Yu | Yung-Shun Juan | Chiu-Ming Kuo | Kuender D Yang | Jung-San Huang | Wei-Chiao Chang