Search Results - "Medical Genetics"

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  1. 2061
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    Analysis of the contribution of <it>FTO</it>, <it>NPC1, ENPP1, NEGR1, GNPDA2</it> and <it>MC4R</it> genes to obesity in Mexican children by Mejía-Benítez Aurora, Klünder-Klünder Miguel, Yengo Loic, Meyre David, Aradillas Celia, Cruz Esperanza, Pérez-Luque Elva, Malacara Juan Manuel, Garay Maria Eugenia, Peralta-Romero Jesús, Flores-Huerta Samuel, García-Mena Jaime, Froguel Philippe, Cruz Miguel, Bonnefond Amélie

    Published 2013
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  2. 2062
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    A novel multiplex PCR-RFLP method for simultaneous detection of the <it>MTHFR 677 C > T</it>, <it>eNOS +894 G > T</it> and <it>- eNOS -786 T > C</it> variants among Malaysian Malay... by Loo Keat, Griffiths Lyn, Gan Siew

    Published 2012
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  3. 2063
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    CT60 genotype does not affect CTLA-4 isoform expression despite association to T1D and AITD in northern Sweden by Eliasson Mats, Ruikka Karin, Lindgren Petter, Nyholm Caroline, Lackovic Kurt, Mayans Sofia, Cilio Corrado M, Holmberg Dan

    Published 2007
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  4. 2064
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    Sex-differential genetic effect of phosphodiesterase 4D (PDE4D) on carotid atherosclerosis by Guo Yuh-Cherng, Lin Hsiu-Fen, Liao Yi-Chu, Yu Ming-Lung, Liu Ching-Kuan, Juo Suh-Hang

    Published 2010
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  5. 2065
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    Genetic and functional evaluation of the role of CXCR1 and CXCR2 in susceptibility to visceral leishmaniasis in north-east India by Mehrotra Sanjana, Fakiola Michaela, Oommen Joyce, Jamieson Sarra E, Mishra Anshuman, Sudarshan Medhavi, Tiwary Puja, Rani Deepa, Thangaraj Kumarasamy, Rai Madhukar, Sundar Shyam, Blackwell Jenefer M

    Published 2011
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  6. 2066
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    Shine & Lal index as a predictor for early detection of β-thalassemia carriers in a limited resource area in Bandung, Indonesia by Ani Melani Maskoen, Lelani Reniarti, Edhyana Sahiratmadja, Joice Sisca, Sjarif Hidajat Effendi

    Published 2019
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  7. 2067
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    Post-mortem histology in transient receptor potential cation channel subfamily V member 6 (TRPV6) under-mineralising skeletal dysplasia suggests postnatal skeletal recovery: a case... by Anna E. Mason, David Grier, Sarah F. Smithson, Christine P. Burren, Elise Gradhand

    Published 2020
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  8. 2068
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    Factor XIII polymorphism and risk of aneurysmal subarachnoid haemorrhage in a south Indian population by Arati Suvatha, M. K. Sibin, Dhananjaya I. Bhat, K. V. L. Narasingarao, Vikas Vazhayil, G. K. Chetan

    Published 2018
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  9. 2069
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    Low Fetal Fraction of Cell Free DNA at Non-Invasive Prenatal Screening Increases the Subsequent Risk of Preterm Birth in Uncomplicated Singleton Pregnancy by Yuan X, Han X, Jia C, Zhou W, Yu B

    Published 2022
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  10. 2070
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    A comprehensive analysis of NPHS1 gene mutations in patients with sporadic focal segmental glomerulosclerosis by Ling Zhuo, Lulin Huang, Zhenglin Yang, Guisen Li, Li Wang

    Published 2019
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  11. 2071
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    The dopamine β-hydroxylase -1021C/T polymorphism is associated with the risk of Alzheimer's disease in the Epistasis Project by Arias-Vásquez Alejandro, Oulhaj Abderrahim, Mateo Ignacio, Kölsch Heike, Heun Reinhard, Gwilliam Rhian, Deloukas Panos, Alvarez Victoria, Coto Eliecer, Barber Rachel, Kehoe Patrick G, Brown Kristelle, Wilcock Gordon K, Lehmann Michael G, Belbin Olivia, Cortina-Borja Mario, Hammond Naomi, Warden Donald R, Combarros Onofre, Schuur Maaike, Aulchenko Yurii S, Ikram M Arfan, Breteler Monique M, van Duijn Cornelia M, Morgan Kevin, Smith A David, Lehmann Donald J

    Published 2010
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  12. 2072
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    Clinical diagnosis of Larsen syndrome, Stickler syndrome and Loeys-Dietz syndrome in a 19-year old male: a case report by N. Riise, B. R. Lindberg, M. A. Kulseth, S. O. Fredwall, R. Lundby, M.-E. Estensen, L. Drolsum, E. Merckoll, K. Krohg-Sørensen, B. Paus

    Published 2018
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  13. 2073
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    Association study between common variations in some candidate genes and prostate adenocarcinoma predisposition through multi-stage approach in Iranian population by Behnaz Beikzadeh, Seyed Abdolhamid Angaji, Maryam Abolhasani

    Published 2020
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  14. 2074
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    Single nucleotide polymorphisms in obesity-related genes and all-cause and cause-specific mortality: a prospective cohort study by Ruczinski Ingo, Strickland Paul, Huang Han, Thuita Lucy, Christo Dana K, Chang Howard H, Gallicchio Lisa, Clipp Sandra, Helzlsouer Kathy J

    Published 2009
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  15. 2075
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    Modeling complex genetic and environmental influences on comorbid bipolar disorder with tobacco use disorder by Ade Alex S, Kare Rajesh K, Kar Tiara, Kleyman-Smith Yelena D, Saccone Scott F, Saccone Nancy L, McEachin Richard C, Sartor Maureen A, Cavalcoli James D, McInnis Melvin G

    Published 2010
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  16. 2076
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    Functional and genetic analysis in type 2 diabetes of Liver X receptor alleles - a cohort study by Gustafsson Jan-Åke, Brismar Kerstin, Östenson Claes G, Efendic Suad, Lecoeur Cecile, Gu Harvest F, Nilsson Maria, Dahlman Ingrid, Froguel Philippe, Vaxillaire Martine, Dahlman-Wright Karin, Steffensen Knut R

    Published 2009
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  17. 2077
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    The CIMP-high phenotype is associated with energy metabolism alterations in colon adenocarcinoma by Maria S. Fedorova, George S. Krasnov, Elena N. Lukyanova, Andrew R. Zaretsky, Alexey A. Dmitriev, Nataliya V. Melnikova, Alexey A. Moskalev, Sergey L. Kharitonov, Elena A. Pudova, Zulfiya G. Guvatova, Anastasiya A. Kobelyatskaya, Irina A. Ishina, Elena N. Slavnova, Anastasia V. Lipatova, Maria A. Chernichenko, Dmitry V. Sidorov, Anatoly Y. Popov, Marina V. Kiseleva, Andrey D. Kaprin, Anastasiya V. Snezhkina, Anna V. Kudryavtseva

    Published 2019
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  18. 2078
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    Characterization of APOBEC3 variation in a population of HIV-1 infected individuals in northern South Africa by Nontokozo D. Matume, Denis M. Tebit, Laurie R. Gray, Stephen D. Turner, David Rekosh, Pascal O. Bessong, Marie-Louise Hammarskjöld

    Published 2019
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  19. 2079
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    A nonsense variant in FBN1 caused autosomal dominant Marfan syndrome in a Chinese family: a case report by Yuping Niu, Sexin Huang, Zeyu Wang, Peiwen Xu, Lijuan Wang, Jie Li, Ming Gao, Xuan Gao, Yuan Gao

    Published 2020
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  20. 2080
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    Identification and in silico characterization of a novel p.P208PfsX1 mutation in V-ATPase a3 subunit associated with autosomal recessive osteopetrosis in a Pakistani family by Muhammad Ajmal, Asif Mir, Sughra Wahid, Chiea Chuen Khor, Jia Nee Foo, Saima Siddiqi, Mehran Kauser, Salman Akbar Malik, Muhammad Nasir

    Published 2017
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