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Integrating EMR-Linked and In Vivo Functional Genetic Data to Identify New Genotype-Phenotype Associations
Mosley, Jonathan D., Van Driest, Sara L., Weeke, Peter E., Delaney, Jessica T., Wells, Quinn S., Bastarache, Lisa, Roden, Dan M., Denny, Josh C.
Published in PloS one (20.06.2014)
Published in PloS one (20.06.2014)
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Beckwith-Wiedemann syndrome and long QT syndrome due to familial-balanced translocation t(11;17)(p15.5;q21.3) involving the KCNQ1 gene
Kaltenbach, S, Capri, Y, Rossignol, S, Denjoy, I, Soudée, S, Aboura, A, Baumann, C, Verloes, A
Published in Clinical genetics (01.07.2013)
Published in Clinical genetics (01.07.2013)
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Segregation of a Latent High Adiposity Phenotype in Families with a History of Type 2 Diabetes Mellitus Implicates Rare Obesity-Susceptibility Genetic Variants with Large Effects in Diabetes-Related Obesity
Jenkins, Arthur B., Batterham, Marijka, Samocha-Bonet, Dorit, Tonks, Katherine, Greenfield, Jerry R., Campbell, Lesley V.
Published in PloS one (07.08.2013)
Published in PloS one (07.08.2013)
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Cosegregation of the G7444A mutation in the mitochondrial COI/tRNA(Ser(UCN)) genes with the 12S rRNA A1555G mutation in a Chinese family with aminoglycoside-induced and nonsyndromic hearing loss
Yuan, Huijun, Qian, Yaping, Xu, Yanjun, Cao, Juyang, Bai, Linna, Shen, Weidong, Ji, Fei, Zhang, Xin, Kang, Dongyang, Mo, Jun Qin, Greinwald, John H, Han, Dongyi, Zhai, Suoqiang, Young, Wie-Yen, Guan, Min-Xin
Published in American journal of medical genetics. Part A (01.10.2005)
Published in American journal of medical genetics. Part A (01.10.2005)
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Co-inheritance of HBB:c.−106G > C, a rare single nucleotide variation at position −56 relative to transcription initiation site, with other known mutations in the globin clusters
Vinciguerra, Margherita, Passarello, Cristina, Cassarà, Filippo, Leto, Filippo, Cannata, Monica, Ferro, Elisa, Anzà, Davide, Calvaruso, Giuseppina, Maggio, Aurelio, Giambona, Antonino
Published in Hematology (Luxembourg) (03.07.2018)
Published in Hematology (Luxembourg) (03.07.2018)
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The Use of Genome-Wide eQTL Associations in Lymphoblastoid Cell Lines to Identify Novel Genetic Pathways Involved in Complex Traits
Min, Josine L., Taylor, Jennifer M., Richards, J. Brent, Watts, Tim, Pettersson, Fredrik H., Broxholme, John, Ahmadi, Kourosh R., Surdulescu, Gabriela L., Lowy, Ernesto, Gieger, Christian, Newton-Cheh, Chris, Perola, Markus, Soranzo, Nicole, Surakka, Ida, Lindgren, Cecilia M., Ragoussis, Jiannis, Morris, Andrew P., Cardon, Lon R., Spector, Tim D., Zondervan, Krina T.
Published in PloS one (15.07.2011)
Published in PloS one (15.07.2011)
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Developmental trajectories in cognitive-behavioral phenotypes: Introduction
Fisch, Gene S.
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.06.2015)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.06.2015)
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No evidence for mutations in NLRP7 and KHDC3L in women with androgenetic hydatidiform moles
Mahadevan, Sangeetha, Wen, Shu, Balasa, Alfred, Fruhman, Gary, Mateus, Julio, Wagner, Andrew, Al-Hussaini, Tarek, Van den Veyver, Ignatia B.
Published in Prenatal diagnosis (01.12.2013)
Published in Prenatal diagnosis (01.12.2013)
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Polymorphisms in the MTHFR and MTR genes and the risk of varicose veins in ethnical Russians
Shadrina, Alexandra Sergeevna, Sevost'ianova, Kseniya Sergeevna, Shevela, Andrey Ivanovich, Soldatsky, Evgenii Yurievich, Seliverstov, Evgenii Igorevich, Demekhova, Marina Yurievna, Shonov, Oleg Aleksandrovich, Ilyukhin, Evgenii Arkadievich, Smetanina, Mariya Aleksandrovna, Voronina, Elena Nikolaevna, Pikalov, Ilya Victorovich, Zolotukhin, Igor Anatolyevich, Filipenko, Maxim Leonidovich
Published in Biomarkers (02.10.2016)
Published in Biomarkers (02.10.2016)
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The serotonin 5-HT1D receptor gene and attention-deficit hyperactivity disorder in Chinese Han subjects
Li, Jun, Zhang, Xia, Wang, Yufeng, Zhou, Rulun, Zhang, Haobo, Yang, Li, Wang, Bing, Faraone, Stephen V.
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (05.12.2006)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (05.12.2006)
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Insulin Sensitivity and β-Cell Function in the Offspring of Type 2 Diabetic Patients: Impact of Line of Inheritance
Natali, Andrea, Muscelli, Elza, Mari, Andrea, Balkau, Beverley, Walker, Mark, Tura, Andrea, Anderwald, Christian, Golay, Alain, Ferrannini, Ele
Published in The journal of clinical endocrinology and metabolism (01.10.2010)
Published in The journal of clinical endocrinology and metabolism (01.10.2010)
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Detection of unrecognized low-level mtDNA heteroplasmy may explain the variable phenotypic expressivity of apparently homoplasmic mtDNA mutations
Ballana, Ester, Govea, Nancy, de Cid, Rafael, Garcia, Cecilia, Arribas, Carles, Rosell, Jordi, Estivill, Xavier
Published in Human mutation (01.02.2008)
Published in Human mutation (01.02.2008)
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Genetical background of intelligence
Junkiert-Czarnecka, Anna, Haus, Olga
Published in Postȩpy higieny i medycyny doświadczalnej (13.06.2016)
Published in Postȩpy higieny i medycyny doświadczalnej (13.06.2016)
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Molecular and clinical characterisation of three Spanish families with maternally inherited non-syndromic hearing loss caused by the 1494C→T mutation in the mitochondrial 12S rRNA gene
Rodríguez-Ballesteros, M, Olarte, M, Aguirre, L A, Galán, F, Galán, R, Vallejo, L A, Navas, C, Villamar, M, Moreno-Pelayo, M A, Moreno, F, del Castillo, I
Published in Journal of medical genetics (01.11.2006)
Published in Journal of medical genetics (01.11.2006)
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impact of inherited thrombophilia on surgery: A factor to consider before transplantation?
Kfoury, Elias, Taher, Ali, Saghieh, Said, Otrock, Zaher K, Mahfouz, Rami
Published in Molecular biology reports (01.05.2009)
Published in Molecular biology reports (01.05.2009)
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A STUDY OF SOME MORPHOGENETIC TRAITS AMONG THE ESAN ETHNIC GROUP OF NIGERIA
Ebeye, O A, Chris-Ozoko, L E, Ogeneovo, P, Onoriode, A
Published in East African medical journal (01.11.2014)
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Published in East African medical journal (01.11.2014)
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