Search Results - "Medical Genetics"

Familial hypercholesterolemia in St.-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia by Konstantinov Vladimir O, Lipovetsky Boris M, Stenderup Anette, Nilsen Gitte G, Nissen Peter H, Golubkov Valery I, Mandelshtam Michail Y, Damgaard Dorte, Zakharova Faina M, Denisenko Alexander D, Vasilyev Vadim B, Faergeman Ole

Connect to this object online.

Association between lipoprotein(a) (Lp(a)) levels and Lp(a) genetic variants with coronary artery calcification by Sonali Pechlivanis, Amir A. Mahabadi, Per Hoffmann, Markus M. Nöthen, Martina Broecker-Preuss, Raimund Erbel, Susanne Moebus, Andreas Stang, Karl-Heinz Jöckel

Connect to this object online.

Cerebellar gene expression profiles of mouse models for Rett syndrome reveal novel MeCP2 targets by Kwan Helen C, Li Hong Hua, Jordan ChaRandle, Francke Uta

Connect to this object online.

Influence of MIF polymorphisms on CpG island hyper-methylation of CDKN2A in the patients with ulcerative colitis by Naoko Sakurai, Tomoyuki Shibata, Masakatsu Nakamura, Hikaru Takano, Tasuku Hayashi, Masafumi Ota, Tomoe Nomura-Horita, Ranji Hayashi, Takeo Shimasaki, Toshimi Ostuka, Tomomitsu Tahara, Tomiyasu Arisawa

Connect to this object online.

Evaluation of <it>DOK5 </it>as a susceptibility gene for type 2 diabetes and obesity in North Indian population by Tandon Nikhil, Ghosh Saurabh, Dwivedi Om, Chauhan Ganesh, Mahajan Anubha, Tabassum Rubina, Bharadwaj Dwaipayan

Connect to this object online.

The minor C-allele of rs2014355 in <it>ACADS </it>is associated with reduced insulin release following an oral glucose load by Pisinger Charlotta, Lauritzen Torsten, Sandbæk Annelli, Andersson Åsa, Sandholt Camilla H, Krarup Nikolaj T, Justesen Johanne M, Banasik Karina, Hornbak Malene, Witte Daniel R, Sørensen Thorkild IA, Pedersen Oluf, Hansen Torben

Connect to this object online.

Race-ethnic differences in the association of genetic loci with HbA_1c levels and mortality in U.S. adults: the third National Health and Nutrition Examination Survey (NH... by Grimsby Jonna L, Porneala Bianca C, Vassy Jason L, Yang Quanhe, Florez José C, Dupuis Josée, Liu Tiebin, Yesupriya Ajay, Chang Man-Huei, Ned Renee M, Dowling Nicole F, Khoury Muin J, Meigs James B

Connect to this object online.

A utilização da Internet na notificação dos defeitos congênitos na Declaração de Nascido Vivo em quatro maternidades públicas do Município de São Paulo, Brasil Use of the... by Pablo Domingos Rodrigues de Nicola, Mirlene Cecília Soares Pinho Cernach, Ana Beatriz Alvarez Perez, Decio Brunoni

Connect to this object online.

Effect of DNMT3A polymorphisms on CpG island hypermethylation in gastric mucosa by Hikaru Takano, Tomoyuki Shibata, Masakatsu Nakamura, Naoko Sakurai, Tasuku Hayashi, Masafumi Ota, Tomoe Nomura-Horita, Ranji Hayashi, Takeo Shimasaki, Toshimi Otsuka, Tomomitsu Tahara, Tomiyasu Arisawa

Connect to this object online.

Evidence for classification of c.1852_1853AA>GC in MLH1 as a neutral variant for Lynch syndrome by Llor Xavier, Carracedo Angel, Castells Antoni, Andreu Montserrat, Bujanda Luis, Ruiz-Ponte Clara, Lazaro Rafael, Ochoa Enrique, Segura Angel, Sanchez-Her, Perez-Carbonell Lucia, Castillejo Maria-Isabel, Egoavil Cecilia, Barbera Victor-Manuel, Martinez-Canto Ana, Guarinos Carla, Castillejo Adela, Clofent Juan, Alenda Cristina, Paya Artemio, Jover Rodrigo, Soto Jose-Luis

Connect to this object online.

Association of HLA class I with severe acute respiratory syndrome coronavirus infection by Lim Ken Hong, Su Ying-Wen, Chen Pei-Jan, Chu Chen-Chung, Loo Jun-Hun, Lee Hui-Lin, Trejaut Jean A, Tseng Hsiang-Kuang, Lin Marie, Tsai Zen-Uong, Lin Ruey-Yi, Lin Ruey-Shiung, Huang Chun-Hsiung

Connect to this object online.

Cheek swabs, SNP chips, and CNVs: Assessing the quality of copy number variant calls generated with subject-collected mail-in buccal brush DNA samples on a high-density genotyping... by Erickson Stephen W, MacLeod Stewart L, Hobbs Charlotte A

Connect to this object online.

Riscos e benefícios da triagem genética: o traço falciforme como modelo de estudo em uma população brasileira Risks and benefits of genetic screening: the sickle cell trait as... by Roberto Benedito de Paiva e Silva, Antonio Sérgio Ramalho

Connect to this object online.

A importância do Serviço de Informações sobre Agentes Teratogênicos, Bahia, Brasil, na prevenção de malformações congênitas: análise dos quatro primeiros anos de funcion... by Maria Betânia Toralles, Bruno Meira Castro Trindade, Luiza Cavalcanti Fadul, Clóvis F. Peixoto Junior, Marco Antonio Costa Campos de Santana, Crésio Alves

Connect to this object online.

Genome-wide association with bone mass and geometry in the Framingham Heart Study by Murabito Joanne M, Lunetta Kathryn L, Dupuis Josée, Demissie Serkalem, Kiel Douglas P, Karasik David

Connect to this object online.

Association of 4p14 and 6q27 variation with Graves disease: a case-control study and a meta-analysis of available evidence by Fa-Mei Li, Lin Liu, Li-Nan Pang, Min Shen, Hong-Wen Lu, Xiao-Hong Zhang, Xun Chu, Zhen-ju Song

Connect to this object online.

PPARα L162V underlies variation in serum triglycerides and subcutaneous fat volume in young males by Clarkson Priscilla M, Angelopoulos Theodore J, Price Thomas B, Thompson Paul D, Seip Richard L, Hansen Barbara C, Brandoli Cinzia, Reeves Erica K, Harmon Brennan, Devaney Joseph, Tesi-Rocha Carolina, Bradbury Meg, Gordish-Dressman Heather, Uthurralt Julieta, Moyna Niall M, Pescatello Linda S, Visich Paul S, Zoeller Robert F, Gordon Paul M, Hoffman Eric P

Connect to this object online.

Association analysis of ADPRT1, AKR1B1, RAGE, GFPT2 and PAI-1 gene polymorphisms with chronic renal insufficiency among Asian Indians with type-2 diabetes by Gupta Arvind, Ammini AC, Kumar KM Prasanna, Tiwari Arun K, Prasad Pushplata, Gupta Rajeev, Thelma BK

Connect to this object online.

Association of PIN3 16-bp duplication polymorphism of TP53 with breast cancer risk in Mali and a meta-analysis by Brehima Diakite, Yaya Kassogue, Guimogo Dolo, Oumar Kassogue, Mamadou Lassine Keita, Brian Joyce, Erin Neuschler, Jun Wang, Jonah Musa, Cheick Bougari Traore, Bakarou Kamate, Etienne Dembele, Sellama Nadifi, Mercy Isichei, Jane L. Holl, Robert Murphy, Seydou Doumbia, Lifang Hou, Mamoudou Maiga

Connect to this object online.

<it>PRNP </it>variation in UK sporadic and variant Creutzfeldt Jakob disease highlights genetic risk factors and a novel non-synonymous polymorphism by Will Robert G, Heath Craig A, Pennington Catherine, Bishop Matthew T, Knight Richard SG

Connect to this object online.