Search Results - "Medical genetics"

Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome by Slater Howard R, Rowell Margaret, Francis David I, Northrop Emma, Albalwi Mohammed, Schüle Birgitt, Gardner RJ McKinlay, Francke Uta

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Nuclear Factor (NF) κB polymorphism is associated with heart function in patients with heart failure by Krieger José E, Mansur Alfredo J, Mill José G, Resende Marina F, Santos Diogo GB, Pereira Alexandre C

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Genes encoding critical transcriptional activators for murine neural tube development and human spina bifida: a case-control study by Pisano M Michele, Greene Robert M, Shaw Gary M, Chapa Claudia J, Yang Wei, Guzman Adrian R, Lu Wei, Lammer Edward J, Finnell Richard H, Zhu Huiping

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Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants by Xiang Chen, Kai Yan, Yanyan Gao, Huijun Wang, Guoqiang Chen, Bingbing Wu, Qian Qin, Lin Yang, Wenhao Zhou

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A new <it>CYP21A1P/CYP21A2 </it>chimeric gene identified in an Italian woman suffering from classical congenital adrenal hyperplasia form by Toscano Vincenzo, Zuppi Cecilia, Giardina Emiliano, Minucci Angelo, Mello Enrica, Concolino Paola, Capoluongo Ettore

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Dyskeratosis congenita with a novel genetic variant in the DKC1 gene: a case report by Vithiya Ratnasamy, Suganthan Navaneethakrishnan, Nirmala Dushyanthi Sirisena, Nana-Maria Grüning, Oliver Brandau, Kumanan Thirunavukarasu, Casey L. Dagnall, Lisa J. McReynolds, Sharon A. Savage, Vajira H. W. Dissanayake

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Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle by Kaestner Klaus H, Allen Robert, Stabler Sally, Tsai Matthew, Fu Hong, Sloan Jennifer, Chandler Randy J, Kazazian Haig H, Venditti Charles P

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Association of <it>PGC-1alpha </it>polymorphisms with age of onset and risk of Parkinson's disease by Betensky Rebecca A, Zheng Kangni, Reddy Sonika, Clark Joanne, Simon David K

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Genotype-phenotype correlations among <it>BRCA1 </it>4153delA and 5382insC mutation carriers from Latvia by Plakhins Grigorijs, Irmejs Arvids, Gardovskis Andris, Subatniece Signe, Rozite Santa, Bitina Marianna, Keire Guntars, Purkalne Gunta, Teibe Uldis, Trofimovics Genadijs, Miklasevics Edvins, Gardovskis Janis

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Paraoxonase gene polymorphisms and haplotype analysis in a stroke population by Whalley Lawrence, Cheung John, Cumming Alastair, Ross-Adams Helen, Pasdar Alireza, St Clair David, MacLeod Mary-Joan

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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

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A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review by Fernández Luis, Nevado Julián, Santos Fernando, Heine-Suñer Damià, Martinez-Glez Victor, García-Miñaur Sixto, Palomo Rebeca, Delicado Alicia, Pajares Isidora, Palomares María, García-Guereta Luis, Valverde Eva, Hawkins Federico, Lapunzina Pablo

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Polymorphisms of selected Xenobiotic Genes contribute to the development of Papillary Thyroid Cancer susceptibility in Middle Eastern population by Al-Nuaim Abdulrahman, Al-Sanea Osama, Al-Dayel Fouad, Siddiqui Shakaib U, Bu Rong, Abubaker Jehad, Al-Rasheed Maha, Ibrahim Muna, Siraj Abdul K, Uddin Shahab, Al-Kuraya Khawla

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Phenotype prediction of Mohr-Tranebjaerg syndrome (MTS) by genetic analysis and initial auditory neuropathy by Hongyang Wang, Li Wang, Ju Yang, Linwei Yin, Lan Lan, Jin Li, Qiujing Zhang, Dayong Wang, Jing Guan, Qiuju Wang

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Secretory granule neuroendocrine protein 1 (<it>SGNE1</it>) genetic variation and glucose intolerance in severe childhood and adult obesity by Charpentier Guillaume, Tichet Jean, Jouret Béatrice, Veslot Jacques, Proença Christine, Heude Barbara, Lecoeur Cécile, Vatin Vincent, Bouatia-Naji Nabila, Marre Michel, Balkau Beverley, Froguel Philippe, Meyre David

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Association of the eNOS E298D polymorphism and the risk of myocardial infarction in the Greek population by Reczko Martin, Panidis Dimitris, Landt Olfert, Drakoulis Nikolaos, Dafni Chaido, Cokkinos Dennis V

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Association between <it>ACE </it>gene I/D polymorphisms and hyperandrogenism in women with Polycystic Ovary Syndrome (PCOS) and controls by Liang Fengjing, Sun Hai-xiang, Wu Xiaoke, Cao Yunxia, Che Yena, fan Haijian, sun Jing, Yi Long, Wang Yong

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Multi-locus stepwise regression: a haplotype-based algorithm for finding genetic associations applied to atopic dermatitis by Knüppel Sven, Esparza-Gordillo Jorge, Marenholz Ingo, Holzhütter Hermann-Georg, Bauerfeind Anja, Ruether Andreas, Weidinger Stephan, Lee Young-Ae, Rohde Klaus

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Association of Maternal Serum Uric Acid and Cystatin C Levels in Late Pregnancy with Adverse Birth Outcomes: An Observational Cohort Study in China by Yuan X, Han X, Jia C, Wang H, Yu B

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Association of vitamin D receptor polymorphisms with the risk of prostate cancer in the Han population of Southern China by Weng Zhiliang, Wei Jia, Lu Hong, Ji Jingzhang, Yu Bin, Ge Jianrong, Yu Yaping, Bai Yongheng, Tao Zhihua, Lu Jianxin

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