Breast cancer protection by genomic imprinting in close kin families

by Srdjan Denic, Mukesh M. Agarwal
Published 2017-11-01

Novel mutations of STXBP2 and LYST associated with adult haemophagocytic lymphohistiocytosis with Epstein-Barr virus infection: a case report

by Lingshuang Sheng, Wei Zhang, Jia Gu, Kefeng Shen, Hui Luo, Yang Yang
Published 2019-02-01

A novel pathogenic frameshift variant unmasked by a large de novo deletion at 13q21.33-q31.1 in a Chinese patient with neuronal ceroid lipofuscinosis type 5

by Wei Li, Xin Fan, Yue Zhang, Limei Huang, Tingting Jiang, Zailong Qin, Jiasun Su, Jingrong Luo, Shang Yi, Shujie Zhang, Yiping Shen
Published 2020-05-01

Congenital chloride diarrhea and Pendred syndrome: case report of siblings with two rare recessive disorders of SLC26 family genes

by Eva Lindberg, Claes Moller, Juha Kere, Satu Wedenoja, Agneta Anderzén-Carlsson
Published 2020-04-01

First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations

by Imen Rejeb, Houweyda Jilani, Yasmina Elaribi, Syrine Hizem, Lamia Hila, Julia Lauer Zillahrdt, Jamel Chelly, Lamia Benjemaa
Published 2017-11-01

Rapid detection of PAH gene mutations in Chinese people

by Xin Zhang, Huan-Xin Chen, Chuan Li, Gui Zhang, Sheng-Yun Liao, Zhuo-chun Peng, Xiao-Ping Lai, Ling-Li Wang
Published 2019-08-01

Genetics of rotator cuff tears: no association of col5a1 gene in a case-control study

by Umile Giuseppe Longo, Katia Margiotti, Stefano Petrillo, Giacomo Rizzello, Caterina Fusilli, Nicola Maffulli, Alessandro De Luca, Vincenzo Denaro
Published 2018-12-01

A novel SYNE1 gene mutation in a Chinese family of Emery-Dreifuss muscular dystrophy-like

by Zuzhi Chen, Zhixia Ren, Wenli Mei, Qiankun Ma, Yingying Shi, Yuanxing Zhang, Shujian Li, Li Xiang, Jiewen Zhang
Published 2017-06-01

Severe child form of primary hyperoxaluria type 2 - a case report revealing consequence of GRHPR deficiency on metabolism

by Jana Konkoľová, Ján Chandoga, Juraj Kováčik, Marcel Repiský, Veronika Kramarová, Ivana Paučinová, Daniel Böhmer
Published 2017-05-01

A luteinizing hormone receptor intronic variant is significantly associated with decreased risk of Alzheimer's disease in males carrying an apolipoprotein E ε4 allele

by Gleason Carey E, Meethal Sivan, Ahmadi M Reza, Haasl Ryan J, Johnson Sterling C, Asthana Sanjay, Bowen Richard L, Atwood Craig S
Published 2008-04-01

Effect of smoking on the association of HHEX (rs5015480) with diabetes among Korean women and heavy smoking men

by Jae Woong Sull, Tae Yong Lee, Sun Ha Jee
Published 2018-05-01

Variation in WNT7A is unlikely to be a cause of familial Congenital Talipes Equinovarus

by Hennekam Raoul, Sahota Sukhy, Shaw Duncan, Cardy Amanda, Inglis Julie, Liu Guoqing, Sharp Linda, Miedzybrodzka Zosia
Published 2008-06-01

Neural progenitor cells from an adult patient with fragile X syndrome

by Nethercott Hubert E, Greco Claudia M, Tassone Flora, Schwartz Philip H, Ziaeian Boback, Hagerman Randi J, Hagerman Paul J
Published 2005-01-01

Genomic <it>NGFB </it>variation and multiple sclerosis in a case control study

by Arning Larissa, Kruse Niels, Akkad Denis A, Gold Ralf, Epplen Jörg T
Published 2008-12-01

Whole-exome sequencing identifies a novel mutation in spermine synthase gene (SMS) associated with Snyder-Robinson Syndrome

by Talal J. Qazi, Qiao Wu, Ailikemu Aierken, Daru Lu, Ihtisham Bukhari, Hafiz M. J. Hussain, Jingmin Yang, Asif Mir, Hong Qing
Published 2020-08-01

A novel study of Copy Number Variations in Hirschsprung disease using the Multiple Ligation-dependent Probe Amplification (MLPA) technique

by Antiñolo Guillermo, López-Alonso Manuel, Fernández Raquel M, Núñez-Torres Rocío, Borrego Salud
Published 2009-11-01

IKZF1 genetic variants rs4132601 and rs11978267 and acute lymphoblastic leukemia risk in Tunisian children: a case-control study

by Sana Mahjoub, Vera Chayeb, Hedia Zitouni, Rabeb M. Ghali, Haifa Regaieg, Wassim Y. Almawi, Touhami Mahjoub
Published 2019-10-01

In depth analysis of the association of FTO SNP (rs9939609) with the expression of classical phenotype of PCOS: a Sri Lankan study

by Umayal Branavan, Sulochana Wijesundera, Vishvanath Chandrasekaran, Carukshi Arambepola, Chandrika Wijeyaratne
Published 2020-02-01

Novel PAK3 gene missense variant associated with two Chinese siblings with intellectual disability: a case report

by Yanyan Qian, Bingbing Wu, Yulan Lu, Wenhao Zhou, Sujuan Wang, Huijun Wang
Published 2020-02-01

Relationship between vascular endothelial growth factor -2578C > a gene polymorphism and lung cancer risk: a meta-analysis

by Hui-liu Zhao, Jia-hua Yu, Ling-sha Huang, Pei-zhang Li, Ming Lao, Bo Zhu, Chao Ou
Published 2020-01-01