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Volume 8 (2007) - December 2007

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Research article   Open Access

A novel RUNX2 missense mutation predicted to disrupt DNA binding causes cleidocranial dysplasia in a large Chinese family with hyperplastic nails

Shaohua Tang, Qiyu Xu, Xueqin Xu, Jicheng Du, Xuemei Yang, Yusheng Jiang, Xiaoqin Wang, Nancy Speck, Taosheng Huang BMC Medical Genetics 2007, 8:82 (31 December 2007)

Abstract | Full text | PDF | PubMed

Research article   Open Access

MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene

Ester Ballana, Josep Mercader, Nathan Fischel-Ghodsian, Xavier Estivill BMC Medical Genetics 2007, 8:81 (21 December 2007)

Abstract | Full text | PDF | PubMed

Research article   Open Access

Association between the -455T>C promoter polymorphism of the APOC3 gene and the metabolic syndrome in a multi-ethnic sample

Rebecca L Pollex, Matthew R Ban, T Kue Young, Peter Bjerregaard, Sonia S Anand, Salim Yusuf, Bernard Zinman, Stewart B Harris, Anthony JG Hanley, Philip W Connelly, Murray W Huff, Robert A Hegele BMC Medical Genetics 2007, 8:80 (20 December 2007)

Abstract | Full text | PDF | PubMed | Cited on BioMed Central

Research article   Open Access

Sphingomyelin phosphodiesterase-1 (SMPD1) coding variants do not contribute to low levels of high-density lipoprotein cholesterol

Zari Dastani, Isabelle L Ruel, James C Engert, Jacques Genest, Michel Marcil BMC Medical Genetics 2007, 8:79 (18 December 2007)

Abstract | Full text | PDF | PubMed

Research article   Open Access

Synpolydactyly and HOXD13 polyalanine repeat: addition of 2 alanine residues is without clinical consequences

Sajid Malik, KM Girisha, Muhammad Wajid, Akhilesh K Roy, Shubha R Phadke, Sayedul Haque, Wasim Ahmad, Manuela C Koch, Karl-Heinz Grzeschik BMC Medical Genetics 2007, 8:78 (11 December 2007)

Abstract | Full text | PDF | PubMed

Research article   Open Access

No evidence for association between tau gene haplotypic variants and susceptibility to Creutzfeldt-Jakob disease

Pascual Sánchez-Juan, Matthew T Bishop, Alison Green, Claudia Giannattasio, Alejandro Arias-Vasquez, Anna Poleggi, Richard SG Knight, Cornelia M van Duijn BMC Medical Genetics 2007, 8:77 (11 December 2007)

Abstract | Full text | PDF | PubMed | Cited on BioMed Central

Research article   Open Access

The intron 4c allele of the NOS3 gene is associated with ischemic stroke in African Americans

RP Grewal, AVC Dutra, Yi C Liao, Ss H Juo, NIH Papamitsakis BMC Medical Genetics 2007, 8:76 (10 December 2007)

Abstract | Full text | PDF | PubMed

Research article   Open Access

CD209 in inflammatory bowel disease: a case-control study in the Spanish population

Concepción Núñez, Javier Oliver, Juan Mendoza, María Gómez-García, Carlos Taxonera, Luis M Gómez, Miguel A López-Nevot, Emilio G de la Concha, Elena Urcelay, Alfonso Martínez, Javier Martín BMC Medical Genetics 2007, 8:75 (10 December 2007)

Abstract | Full text | PDF | PubMed

Research article   Open Access

Association of autism with polymorphisms in the paired-like homeodomain transcription factor 1 (PITX1) on chromosome 5q31: a candidate gene analysis

Anne Philippi, Frédéric Tores, Jérome Carayol, Francis Rousseau, Mélanie Letexier, Elke Roschmann, Pierre Lindenbaum, Abdel Benajjou, Karine Fontaine, Céline Vazart, Philippe Gesnouin, Peter Brooks, Jörg Hager BMC Medical Genetics 2007, 8:74 (6 December 2007)

Abstract | Full text | PDF | PubMed | Cited on BioMed Central

Research article   Open Access

Impact of estrogen receptor gene polymorphisms and mRNA levels on obesity and lipolysis – a cohort study

Maria Nilsson, Ingrid Dahlman, Hong Jiao, Jan-Åke Gustafsson, Peter Arner, Karin Dahlman-Wright BMC Medical Genetics 2007, 8:73 (4 December 2007)

Abstract | Full text | PDF | PubMed | Cited on BioMed Central

Research article   Open Access Highly Accessed

A comprehensive analysis of common genetic variation in prolactin (PRL) and PRL receptor (PRLR) genes in relation to plasma prolactin levels and breast cancer risk: the Multiethnic Cohort

Sulggi A Lee, Christopher A Haiman, Noel P Burtt, Loreall C Pooler, Iona Cheng, Laurence N Kolonel, Malcolm C Pike, David Altshuler, Joel N Hirschhorn, Brian E Henderson, Daniel O Stram BMC Medical Genetics 2007, 8:72 (1 December 2007)

Abstract | Full text | PDF | PubMed | Cited on BioMed Central |  Editor’s summary

Despite previous reports of a link between breast cancer and circulating prolactin levels, no association is found between prolactin (PRL) and prolactin receptor (PRLR) gene polymorphisms in relation to breast cancer risk.


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