Genome-wide association study identifies PERLD1 as asthma candidate gene

by Anantharaman Ramani, Andiappan Anand, Nilkanth Pallavi, Suri Bani, Wang De Yun, Chew Fook Tim
Published 2011-12-01

Quality of life scores differs between genotypic groups of patients with suspected hereditary hemochromatosis

by Paula Fernanda Silva Fonseca, Rodolfo Delfini Cançado, Flavio Augusto Naoum, Carla Luana Dinardo, Guilherme Henrique Hencklain Fonseca, Sandra Fatima Menosi Gualandro, José Eduardo Krieger, Alexandre Costa Pereira, Pierre Brissot, Paulo Caleb Junior Lima Santos
Published 2018-01-01

Cardiac manifestations of PRKAG2 mutation

by Pooya Banankhah, Gregory A. Fishbein, Anthony Dota, Reza Ardehali
Published 2018-01-01

Performance of risk prediction for inflammatory bowel disease based on genotyping platform and genomic risk score method

by Guo-Bo Chen, Sang Hong Lee, Grant W. Montgomery, Naomi R. Wray, Peter M. Visscher, Richard B. Gearry, Ian C. Lawrance, Jane M. Andrews, Peter Bampton, Gillian Mahy, Sally Bell, Alissa Walsh, Susan Connor, Miles Sparrow, Lisa M. Bowdler, Lisa A. Simms, Krupa Krishnaprasad, the International IBD Genetics Consortium, Graham L. Radford-Smith, Gerhard Moser
Published 2017-08-01

A novel insertion mutation in the cartilage-derived morphogenetic protein-1 (<it>CDMP1</it>) gene underlies Grebe-type chondrodysplasia in a consanguineous Pakistani family

by Ansar Muhammad, Ali Ghazanfar, Wasif Naveed, Naqvi Syed, Basit Sulman, Ahmad Wasim
Published 2008-11-01

Association of the MAOA promoter uVNTR polymorphism with suicide attempts in patients with major depressive disorder

by Tzeng Dong-Sheng, Lung For-Wey, Huang Mei-Feng, Lee Ming-Been
Published 2011-05-01

Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand

by Pongsathorn Chaiyasap, Chupong Ittiwut, Chalurmpon Srichomthong, Apiruk Sangsin, Kanya Suphapeetiporn, Vorasuk Shotelersuk
Published 2017-09-01

<it>BCL-2 </it>(-938C > A) polymorphism is associated with breast cancer susceptibility

by Liang Faming, Moran Meena S, Yuan Cunzhong, Yan Shi, Ma Tingting, Jiang Liyu, Tao Kai, Li Xiaoyan, Zhang Ning, Haffty Bruce G, Yang Qifeng
Published 2011-04-01

A novel germline <it>PALB2 </it>deletion in Polish breast and ovarian cancer patients

by Cendrowski Krzysztof, Derlatka Pawel, Niwinska Anna, Nowakowska Dorota, Dabrowska Michalina, Moes Joanna, Kluska Anna, Dansonka-Mieszkowska Agnieszka, Kupryjanczyk Jolanta
Published 2010-02-01

Patient accounts of diagnostic testing for familial hypercholesterolaemia: comparing responses to genetic and non-genetic testing methods

by Hollands Gareth J, Armstrong David, Macfarlane Angela, Crook Martin A, Marteau Theresa M
Published 2012-09-01

Lack of MEF2A Δ7aa mutation in Irish families with early onset ischaemic heart disease, a family based study

by Belton Christine, McGlinchey Paul G, Spence Mark, Patterson Chris C, Hughes Anne E, Allen Adrian R, Horan Paul G, Jardine Tracy CL, McKeown Pascal P
Published 2006-07-01

Functional analysis of splicing mutations in exon 7 of <it>NF1 </it>gene

by Calvieri Stefano, Torrente Isabella, Guida Valentina, Schirinzi Annalisa, De Luca Alessandro, Bottillo Irene, Gervasini Cristina, Larizza Lidia, Pizzuti Antonio, Dallapiccola Bruno
Published 2007-02-01

Identification of a region required for TSC1 stability by functional analysis of <it>TSC1 </it>missense mutations found in individuals with tuberous sclerosis complex

by den Dunnen Johan T, Povey Sue, Ekong Rosemary, Sampson Julian, Kwiatkowski David, Hoogeveen-Westerveld Marianne, Mozaffari Melika, van den Ouweland Ans, Halley Dicky, Nellist Mark
Published 2009-09-01

Mechanistic role of a disease-associated genetic variant within the ADAM33 asthma susceptibility gene

by Keith Tim P, Giese Heidi, Turenne Laura, Del Mastro Richard G, Van Eerdewegh Paul, May Klaus JW, Little Randall D
Published 2007-07-01

Immunological profile in a family with nephrogenic diabetes insipidus with a novel 11 kb deletion in AVPR2 and ARHGAP4 genes

by Arinami Tadao, Sasaki Sei, Kitazawa Katsuhiko, Morinishi Yoichi, Kashiwagi Reiichi, Hirata Kenji, Imai Kohsuke, Fujimoto Masaya, Nonoyama Shigeaki, Noguchi Emiko
Published 2008-05-01

Comment on “report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidos...

by Edina Poletto, Ursula Matte, Guilherme Baldo
Published 2018-10-01

Dinucleotide repeat polymorphism in Fms-like tyrosine kinase-1 (Flt-1) gene is not associated with preeclampsia

by Park So-Yeon, Choi Jun-Seek, Ahn Hyun-Kyong, Han Jung-Yeol, Kim Moon-Young, Yang Jae-Hyug, Lim Ji-Hyae, Kim Shin-Young, Kim Mi-Jin, Ryu Hyun-Mee
Published 2008-07-01

The Familial Intracranial Aneurysm (FIA) study protocol

by Meissner Irene, Pankratz Nathan, Huston John, Foroud Tatiana, Sauerbeck Laura R, Broderick Joseph P, Brown Robert D
Published 2005-04-01

High-throughput mutational analysis of <it>TOR1A </it>in primary dystonia

by Truong Daniel D, Tarsy Daniel, Simon David K, Hedera Peter, Uitti Ryan J, Wszolek Zbigniew K, Batish Sat, Blitzer Andrew, Paniello Randal C, Karimi Morvarid, Tabbal Samer D, Racette Brad A, Perlmutter Joel S, Bastian Robert W, Xiao Jianfeng, Frei Karen P, Pfeiffer Ronald F, Gong Suzhen, Zhao Yu, LeDoux Mark S
Published 2009-03-01

Triglyceride associated polymorphisms of the <it>APOA5 </it>gene have very different allele frequencies in Pune, India compared to Europeans

by Chandak Giriraj R, Ward Kirsten J, Yajnik Chittaranjan S, Pandit Anand N, Bavdekar Ashish, Joglekar Charu V, Fall Caroline HD, Mohankrishna P, Wilkin Terence J, Metcalf Bradley S, Weedon Michael N, Frayling Timothy M, Hattersley Andrew T
Published 2006-10-01