Search Results - "Medical Genetics"

<it>PTPRF </it>is disrupted in a patient with syndromic amastia by Markello Thomas C, Snabboon Thiti, Rojvachiranonda Nond, Mahatumarat Charan, Praphanphoj Verayuth, Tongkobpetch Siraprapa, Ausavarat Surasawadee, Gahl William A, Suphapeetiporn Kanya, Shotelersuk Vorasuk

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Three novel mutations in the ATP7B gene of unrelated Vietnamese patients with Wilson disease by Nguyen Thi Mai Huong, Nguyen Thi Kim Lien, Ngo Diem Ngoc, Nguyen Thi Phuong Mai, Nguyen Pham Anh Hoa, Le Thanh Hai, Phan Van Chi, Ta Thanh Van, Tran Van Khanh, Nguyen Huy Hoang

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A case-only study of gene-environment interaction between genetic susceptibility variants in <it>NOD2 </it>and cigarette smoking in Crohn's disease aetiology by Helbig Katherine L, Nothnagel Michael, Hampe Jochen, Balschun Tobias, Nikolaus Susanna, Schreiber Stefan, Franke Andre, Nöthlings Ute

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Mitochondrial DNA haplogroup T is associated with coronary artery disease and diabetic retinopathy: a case control study by Kofler Barbara, Mueller Edith E, Eder Waltraud, Stanger Olaf, Maier Richard, Weger Martin, Haas Anton, Winker Robert, Schmut Otto, Paulweber Bernhard, Iglseder Bernhard, Renner Wilfried, Wiesbauer Martina, Aigner Irene, Santic Danijela, Zimmermann Franz A, Mayr Johannes A, Sperl Wolfgang

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An intronic single-nucleotide polymorphism (rs13217795) in FOXO3 is associated with asthma and allergic rhinitis: a case-case-control study by Justin Z. Amarin, Randa G. Naffa, Haya H. Suradi, Yousof M. Alsaket, Nathir M. Obeidat, Tareq M. Mahafza, Malek A. Zihlif

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Lack of correlation between in silico projection of function and quantitative real-time PCR-determined gene expression levels in colon tissue by Penney RB, Lundgreen A, Yao-Borengasser A, Koroth-Edavana V, Williams S, Wolff R, Slattery ML, Kadlubar S

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Testing the thrifty gene hypothesis: the Gly482Ser variant in <it>PPARGC1A </it>is associated with BMI in Tongans by Macartney-Coxson Donia P, Engelken Johannes, Hardouin Emilie, Weiss Joerg G, Chambers Geoff K, Ohashi Jun, Lea Rod A, Myles Sean, Eccles David A, Naka Izumi, Kimura Ryosuke, Inaoka Tsukasa, Matsumura Yasuhiro, Stoneking Mark

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UGT1A1 sequence variants and bilirubin levels in early postnatal life: a quantitative approach by Matern Dietrich, Karon Brad S, Weaver Amy, Skierka Jennifer, Hanchard Neil A, Cook Walter, O'Kane Dennis J

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Phosphodiesterase 8B gene polymorphism in women with recurrent miscarriage: A retrospective case control study by Granfors Michaela, Karypidis Helena, Hosseini Frida, Skjöldebrand-Sparre Lottie, Stavreus-Evers Anneli, Bremme Katarina, Landgren Britth-Marie, Sundström-Poromaa Inger, Wikström Anna-Karin, Åkerud Helena

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Increased cardiovascular mortality in females with the a/a genotype of the SNPs rs1478604 and rs2228262 of thrombospondin-1 by Urban Alehagen, Levar Shamoun, Dick Wågsäter

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Validation of genotype imputation in Southeast Asian populations and the effect of single nucleotide polymorphism annotation on imputation outcome by Worachart Lert-itthiporn, Bhoom Suktitipat, Harald Grove, Anavaj Sakuntabhai, Prida Malasit, Nattaya Tangthawornchaikul, Fumihiko Matsuda, Prapat Suriyaphol

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The identification and characterization of the p.G91 deletion in CRYBA1 in a Chinese family with congenital cataracts by Dan Li, Qinghe Jing, Yongxiang Jiang

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Homozygosity and risk of childhood death due to invasive bacterial disease by Williams Thomas N, Shafi Mohammed, Mwangi Isaiah, Berkley James A, Amos William, Lyons Emily J, Newton Charles R, Peshu Norbert, Marsh Kevin, Scott J Anthony G, Hill Adrian VS

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Design considerations in a sib-pair study of linkage for susceptibility loci in cancer by Finkelstein Dianne M, Yeap Beow Y, Amos Christopher I, Kerber Richard A, Thomas Duncan C

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Case reports: three novel variants in PCCA and PCCB genes in Chinese patients with propionic acidemia by Qi Yang, Hong Xu, Jingsi Luo, Mengting Li, Sheng Yi, Qinle Zhang, Guoxing Geng, Shihan Feng, Xin Fan

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Genetic and other factors determining mannose-binding lectin levels in American Indians: the Strong Heart Study by Zhang Ying, MacCluer Jean W, North Kari E, DeCroo Susan, Ferrell Robert E, Best Lyle G, Lee Elisa T, Howard Barbara V, Umans Jason, Palmieri Vittorio, Garred Peter

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Sequence variants identification at the KCNQ1OT1:TSS differentially Methylated region in isolated omphalocele cases by Maria Francesca Bedeschi, Mariarosaria Calvello, Leda Paganini, Lidia Pezzani, Marco Baccarin, Laura Fontana, Silvia M. Sirchia, Silvana Guerneri, Lorena Canazza, Ernesto Leva, Lorenzo Colombo, Faustina Lalatta, Fabio Mosca, Silvia Tabano, Monica Miozzo

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Comprehensive genomic analysis identifies pathogenic variants in maturity-onset diabetes of the young (MODY) patients in South India by Viswanathan Mohan, Venkatesan Radha, Thong T. Nguyen, Eric W. Stawiski, Kanika Bajaj Pahuja, Leonard D. Goldstein, Jennifer Tom, Ranjit Mohan Anjana, Monica Kong-Beltran, Tushar Bhangale, Suresh Jahnavi, Radhakrishnan Chandni, Vijay Gayathri, Paul George, Na Zhang, Sakthivel Murugan, Sameer Phalke, Subhra Chaudhuri, Ravi Gupta, Jingli Zhang, Sam Santhosh, Jeremy Stinson, Zora Modrusan, V. L. Ramprasad, Somasekar Seshagiri, Andrew S. Peterson

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Genetic effect of CysLTR2 polymorphisms on its mRNA synthesis and stabilization by Chung Il, Choi Inseon S, Kim Mi-Kyeong, Il Lim Gune, Rhim Taiyoun, Uh Soo-Taek, Park Jong, Park Sung, Jang An-Soo, Park Se-Min, Chang Hun, Shin Jeong-Ah, Park Byung, Shin Hyoung, Park Choon-Sik

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Analysis of the number of registered patients whis rare diseases in some regions of Ukraine by M. V. Podgaina, N. A. Sliptsova, V. V. Tutuk

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