biomedcentral.com/bmcmedgenet/article
Bottom,Top,Right1
  • Welcome Stanford University
  • Log on
  •   BioMed Central
  • Journals
  • Gateways
BMC Medical Genetics
official impact factor 2.33
Search for
Advanced search
  • Home
  • Articles
  • Authors
  • Reviewers
  • About this journal
  • My BMC Medical Genetics

Submit a manuscript Register Sign up for article alerts Contact us Follow us on Twitter

Explore BMC Medical Genetics

  •  Editorial Board
  •  Instructions for authors
  •  FAQ
Advertisement

Articles

  • All articles
  • Sections
  • Most viewed RSS
  • Archive
  • Supplements
Supplements
Please provide a volume number.

Page 1 of 42

1 2 3 4 5 6 7 8 9 10  Next

 Display/download options Articles per page: 25 | 50 | 100

Display options
Download optionsHelp icon

Research article   Open Access

MLPA-based genotype--phenotype analysis in 1053 Chinese patients with DMD/BMD

Juan Yang, Shao Y Li, Ya Q Li, Ji Q Cao, Shan W Feng, Yan Y Wang, Yi X Zhan, Chang S Yu, Fei Chen, Jing Li, Xiao F Sun, Cheng Zhang BMC Medical Genetics 2013, 14:29 (1 March 2013)

Abstract | Provisional PDF

Case report   Open Access

Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia

Pierluigi Marzuillo, Anna Grandone, Ruggero Coppola, Domenico Cozzolino, Adalgisa Festa, Federica Messa, Caterina Luongo, Emanuele Miraglia del Giudice, Laura Perrone BMC Medical Genetics 2013, 14:28 (23 February 2013)

Abstract | Provisional PDF | PubMed

Research article   Open Access

Allele-specific polymerase chain reaction for the detection of Alzheimer's disease-related single nucleotide polymorphisms

Mohd Nazif Darawi, Chin Ai-Vyrn, Kalavathy Ramasamy, Philip Poi Hua, Tan Maw Pin, Shahrul Bahyah Kamaruzzaman, Abu Bakar Majeed BMC Medical Genetics 2013, 14:27 (19 February 2013)

Abstract | Provisional PDF | PubMed

Research article   Open Access

Serum 25-hydroxyvitamin D3 levels and vitamin D receptor variants in melanoma patients from the Mediterranean area of Barcelona: 25-hydroxyvitamin D3 levels and VDR variants in melanoma patients from Barcelona

Zighereda Ogbah, Laura Visa, Celia Badenas, José Ríos, Joan Anton Puig-Butille, Nuria Bonifaci, Elisabet Guino, Josep Maria Augé, Isabel Kolm, Cristina Carrera, Miquel Ángel Pujana, Josep Malvehy, Susana Puig BMC Medical Genetics 2013, 14:26 (16 February 2013)

Abstract | Provisional PDF | PubMed

Study protocol   Open Access Highly Accessed

Study design of DIACORE (DIAbetes COhoRtE) – a cohort study of patients with diabetes mellitus type 2

Lena Dörhöfer, Alexander Lammert, Vera Krane, Mathias Gorski, Bernhard Banas, Christoph Wanner, Bernhard K Krämer, Iris M Heid, Carsten A Böger, for the DIACORE Study Group BMC Medical Genetics 2013, 14:25 (14 February 2013)

Abstract | Full text | PDF | PubMed

Technical advance   Open Access Highly Accessed

Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests

Li-Yun Wang, Nien-I Chen, Pin-Wen Chen, Shu-Chuan Chiang, Wuh-Liang Hwu, Ni-Chung Lee, Yin-Hsiu Chien BMC Medical Genetics 2013, 14:24 (10 February 2013)

Abstract | Full text | PDF | PubMed

Research article   Open Access Highly Accessed

Risk loci for coronary artery calcification replicated at 9p21 and 6q24 in the Heinz Nixdorf Recall Study

Sonali Pechlivanis, Thomas W Mühleisen, Stefan Möhlenkamp, Dirk Schadendorf, Raimund Erbel, Karl-Heinz Jöckel, Per Hoffmann, Markus M Nöthen, André Scherag, Susanne Moebus, for the Heinz Nixdorf Recall Study Investigative Group BMC Medical Genetics 2013, 14:23 (8 February 2013)

Abstract | Full text | PDF | PubMed

Research article   Open Access Highly Accessed

Analysis of the contribution of FTO, NPC1, ENPP1, NEGR1, GNPDA2 and MC4R genes to obesity in Mexican children

Aurora Mejía-Benítez, Miguel Klünder-Klünder, Loic Yengo, David Meyre, Celia Aradillas, Esperanza Cruz, Elva Pérez-Luque, Juan Manuel Malacara, Maria Eugenia Garay, Jesús Peralta-Romero, Samuel Flores-Huerta, Jaime García-Mena, Philippe Froguel, Miguel Cruz, Amélie Bonnefond BMC Medical Genetics 2013, 14:21 (1 February 2013)

Abstract | Full text | PDF | PubMed

Research article   Open Access

Introduction of the AmpliChip CYP450 Test to a South African cohort: a platform comparative prospective cohort study

Tyren M Dodgen, Warren E Hochfeld, Heidi Fickl, Sahle M Asfaha, Chrisna Durandt, Paul Rheeder, Britt I Drögemöller, Galen E Wright, Louise Warnich, Christiaan DJ Labuschagne, Antoinette van Schalkwyk, Andrea Gaedigk, Michael S Pepper BMC Medical Genetics 2013, 14:20 (29 January 2013)

Abstract | Provisional PDF | PubMed

Research article   Open Access Highly Accessed

Microsomal triglyceride transfer protein -164 T > C gene polymorphism and risk of cardiovascular disease: results from the EPIC-Potsdam case-cohort study

Romina di Giuseppe, Sonali Pechlivanis, Eva Fisher, Maria Arregui, Beate Weikert, Sven Knüppel, Brian Buijsse, Andreas Fritsche, Stefan N Willich, Hans-Georg Joost, Heiner Boeing, Susanne Moebus, Cornelia Weikert BMC Medical Genetics 2013, 14:19 (29 January 2013)

Abstract | Full text | PDF | PubMed

Research article   Open Access Highly Accessed

Genome-wide analysis validates aberrant methylation in fragile X syndrome is specific to the FMR1 locus

Reid S Alisch, Tao Wang, Pankaj Chopra, Jeannie Visootsak, Karen N Conneely, Stephen T Warren BMC Medical Genetics 2013, 14:18 (29 January 2013)

Abstract | Provisional PDF | PubMed

Research article   Open Access

Lack of association between a functional variant of the BRCA-1 related associated protein (BRAP) gene and ischemic stroke

Yi-Chu Liao, Hsiu-Fen Lin, Yuh-Cherng Guo, Chung-Hung Chen, Zhi-Zhang Huang, Suh-Hang Hank Juo, Ruey-Tay Lin BMC Medical Genetics 2013, 14:17 (28 January 2013)

Abstract | Full text | PDF | PubMed

Research article   Open Access

Association between paraoxonase gene and stroke in the Han Chinese population

Guojun Zhang, Wenjin Li, Zhiqiang Li, Hong Lv, Yonghong Ren, Ruimin Ma, Xiaohong Li, Xixiong Kang, Yongyong Shi, Yimin Sun BMC Medical Genetics 2013, 14:16 (28 January 2013)

Abstract | Full text | PDF | PubMed

Research article   Open Access Highly Accessed

A comprehensive investigation of variants in genes encoding adiponectin (ADIPOQ) and its receptors (ADIPOR1/R2), and their association with serum adiponectin, type 2 diabetes, insulin resistance and the metabolic syndrome

Kirsten E Peters, John Beilby, Gemma Cadby, Nicole M Warrington, David G Bruce, Wendy A Davis, Timothy ME Davis, Steven Wiltshire, Matthew Knuiman, Brendan M McQuillan, Lyle J Palmer, Peter L Thompson, Joseph Hung BMC Medical Genetics 2013, 14:15 (25 January 2013)

Abstract | Provisional PDF | PubMed

Research article   Open Access

The silence of MUC2 mRNA induced by promoter hypermethylation associated with HBV in Hepatocellular Carcinoma

Yang Ling, Jing Zhu, Lu Gao, Yongping Liu, Changtai Zhu, Rong Li, Lixin Wei, Changsong Zhang BMC Medical Genetics 2013, 14:14 (25 January 2013)

Abstract | Full text | PDF | PubMed

Case report   Open Access

Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3

Aleksander Jamsheer, Anna Sowińska, Dorota Simon, Małgorzata Jamsheer-Bratkowska, Tomasz Trzeciak, Anna Latos-Bieleńska BMC Medical Genetics 2013, 14:13 (24 January 2013)

Abstract | Full text | PDF | PubMed

Research article   Open Access

Potential contribution of SIM2 and ETS2 functional polymorphisms in Down syndrome associated malignancies

Arpita Chatterjee, Samikshan Dutta, Sanjit Mukherjee, Nupur Mukherjee, Avirup Dutta, Ashis Mukherjee, Swagata Sinha, Chinmay Kumar Panda, Keya Chaudhuri, Ananda L Roy, Kanchan Mukhopadhyay BMC Medical Genetics 2013, 14:12 (23 January 2013)

Abstract | Full text | PDF | PubMed

Research article   Open Access Highly Accessed

Assessment of the 9p21.3 locus in severity of coronary artery disease in the presence and absence of type 2 diabetes

Natalia V Rivera, Robert Carreras-Torres, Roberta Roncarati, Chiara Viviani-Anselmi, Francesca De Micco, Alessandra Mezzelani, Werner Koch, Petra Hoppmann, Adnan Kastrati, Alexandre FR Stewart, Li Chen, Robert Roberts, Lennart C Karssen, Najaf Amin, Valentina Trimarco, Raffaele Izzo, Guido Iaccarino, Gerolama Condorelli, Annibale A Puca, Paolo Pagnotta, Flavio Airoldi, Bruno Trimarco, Cornelia M van Duijn, Gianluigi Condorelli, Carlo Briguori BMC Medical Genetics 2013, 14:11 (23 January 2013)

Abstract | Full text | PDF | PubMed

Research article   Open Access

Reduced genetic influence on childhood obesity in small for gestational age children

Dug Yeo Han, Rinki Murphy, Angharad R Morgan, Wen Jiun Lam, John M D Thompson, Clare R Wall, Karen E Waldie, Edwin A Mitchell, Lynnette R Ferguson BMC Medical Genetics 2013, 14:10 (22 January 2013)

Abstract | Full text | PDF | PubMed

Case report   Open Access

A study of two Chinese patients with tetrasomy and pentasomy 15q11q13 including Prader-Willi/Angelman syndrome critical region present with developmental delays and mental impairment

Jing Yang, Yongchen Yang, Yi Huang, Yan Hu, Xi Chen, Hengjuan Sun, Zhibao Lv, Qian Cheng, Liming Bao BMC Medical Genetics 2013, 14:9 (15 January 2013)

Abstract | Provisional PDF | PubMed

Research article   Open Access Highly Accessed

Meta-analysis of associations between TCF7L2 polymorphisms and risk of type 2 diabetes mellitus in the Chinese population

Jinjin Wang, Fulan Hu, Tianping Feng, Jingzhi Zhao, Lei Yin, Linlin Li, Yan Wang, Qian Wang, Dongsheng Hu BMC Medical Genetics 2013, 14:8 (12 January 2013)

Abstract | Full text | PDF | PubMed

Research article   Open Access

Identification of novel mutation in cathepsin C gene causing Papillon-Lefèvre Syndrome in Mexican patients

José G Romero-Quintana, Luis O Frías-Castro, Eliakym Arámbula-Meraz, Maribel Aguilar-Medina, Jesús E Dueñas-Arias, Jesús D Melchor-Soto, José G Romero-Navarro, Rosalío Ramos-Payán BMC Medical Genetics 2013, 14:7 (11 January 2013)

Abstract | Full text | PDF | PubMed

Research article   Open Access Highly Accessed

Effects of smoking on the genetic risk of obesity: the population architecture using genomics and epidemiology study

Megan D Fesinmeyer, Kari E North, Unhee Lim, Petra Bůžková, Dana C Crawford, Jeffrey Haessler, Myron D Gross, Jay H Fowke, Robert Goodloe, Shelley-Ann Love, Misa Graff, Christopher S Carlson, Lewis H Kuller, Tara C Matise, Ching-Ping Hong, Brian E Henderson, Melissa Allen, Rebecca R Rohde, Ping Mayo, Nathalie Schnetz-Boutaud, Kristine R Monroe, Marylyn D Ritchie, Ross L Prentice, Lawrence N Kolonel, JoAnn E Manson, James Pankow, Lucia A Hindorff, Nora Franceschini, Lynne R Wilkens, Christopher A Haiman, Loic Le Marchand, Ulrike Peters et al. BMC Medical Genetics 2013, 14:6 (11 January 2013)

Abstract | Full text | PDF | PubMed

Research article   Open Access

Contribution of the PALB2 c.2323C>T [p.Q775X] Founder mutation in well-defined breast and/or ovarian cancer families and unselected ovarian cancer cases of French Canadian descent

Marc Tischkowitz, Nelly Sabbaghian, Nancy Hamel, Carly Pouchet, William D Foulkes, Anne-Marie Mes-Masson, Diane M Provencher, Patricia N Tonin BMC Medical Genetics 2013, 14:5 (9 January 2013)

Abstract | Full text | PDF | PubMed

Research article   Open Access

Mitochondrial DNA haplogroups confer differences in risk for age-related macular degeneration: a case control study

M Cristina Kenney, Dieter Hertzog, Garrick Chak, Shari R Atilano, Nikan Khatibi, Kyaw Soe, Andrew Nobe, Elizabeth Yang, Marilyn Chwa, Feilin Zhu, Masood Memarzadeh, Jacqueline King, Jonathan Langberg, Kent Small, Anthony B Nesburn, David S Boyer, Nitin Udar BMC Medical Genetics 2013, 14:4 (9 January 2013)

Abstract | Full text | PDF | PubMed

Page 1 of 42

1 2 3 4 5 6 7 8 9 10  Next


  • Terms and Conditions
  • Privacy statement
  • Press
  • Information for advertisers
  • Jobs at BMC
  • Support
  • Contact us

© 2013 BioMed Central Ltd unless otherwise stated. Part of Springer Science+Business Media.