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Volume 8 (2007) - July 2007

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Research article   Open Access

Lack of increases in methylation at three CpG-rich genomic loci in non-mitotic adult tissues during aging

Michelle W Chu, Kimberly D Siegmund, Carrie L Eckstam, Jung Kim, Allen S Yang, Gary C Kanel, Simon Tavaré, Darryl Shibata BMC Medical Genetics 2007, 8:50 (31 July 2007)

Abstract | Full text | PDF | PubMed

Research article   Open Access

Subarachnoid hemorrhage: tests of association with apolipoprotein E and elastin genes

Ritesh Kaushal, Daniel Woo, Prodipto Pal, Mary Haverbusch, Huifeng Xi, Charles Moomaw, Padmini Sekar, Brett Kissela, Dawn Kleindorfer, Matthew Flaherty, Laura Sauerbeck, Ranajit Chakraborty, Joseph Broderick, Ranjan Deka BMC Medical Genetics 2007, 8:49 (31 July 2007)

Abstract | Full text | PDF | PubMed

Research article   Open Access

Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes

Ravinesh A Kumar, David B Everman, Chad T Morgan, Anne Slavotinek, Charles E Schwartz, Elizabeth M Simpson BMC Medical Genetics 2007, 8:48 (26 July 2007)

Abstract | Full text | PDF | PubMed

Research article   Open Access

Resequencing PNMT in European hypertensive and normotensive individuals: no common susceptibilily variants for hypertension and purifying selection on intron 1

Katrin Kepp, Peeter Juhanson, Viktor Kozich, Mai Ots, Margus Viigimaa, Maris Laan BMC Medical Genetics 2007, 8:47 (23 July 2007)

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

Research article   Open Access

Mechanistic role of a disease-associated genetic variant within the ADAM33 asthma susceptibility gene

Richard G Del Mastro, Laura Turenne, Heidi Giese, Tim P Keith, Paul Van Eerdewegh, Klaus JW May, Randall D Little BMC Medical Genetics 2007, 8:46 (17 July 2007)

Abstract | Full text | PDF | PubMed

Research article   Open Access

Effect of the 3'APOB-VNTR polymorphism on the lipid profiles in the Guangxi Hei Yi Zhuang and Han populations

Yin Ruixing, Chen Guangqin, Wang Yong, Lin Weixiong, Yang Dezhai, Pan Shangling BMC Medical Genetics 2007, 8:45 (17 July 2007)

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

Research article   Open Access Highly Accessed

Secretory granule neuroendocrine protein 1 (SGNE1) genetic variation and glucose intolerance in severe childhood and adult obesity

Nabila Bouatia-Naji, Vincent Vatin, Cécile Lecoeur, Barbara Heude, Christine Proença, Jacques Veslot, Béatrice Jouret, Jean Tichet, Guillaume Charpentier, Michel Marre, Beverley Balkau, Philippe Froguel, David Meyre BMC Medical Genetics 2007, 8:44 (7 July 2007)

Abstract | Full text | PDF | PubMed |  Editor’s summary

A single nucleotide polymorphism in the SGNE1 gene is associated with glucose intolerance and insulin resistance in children with obesity, but does not contribute directly to obesity and type 2 diabetes.

Research article   Open Access Highly Accessed

Antisense-induced exon skipping for duplications in Duchenne muscular dystrophy

Annemieke Aartsma-Rus, Anneke AM Janson, Gert-Jan B van Ommen, Judith CT van Deutekom BMC Medical Genetics 2007, 8:43 (5 July 2007)

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

Antisense exon skipping is a promising gene therapy for duplication-associated Duchenne Muscular Dystrophy, although it requires tailoring to the specific duplication and is less efficient where multiple exons are duplicated.

Research article   Open Access

Cost-utility analysis of genetic screening in families of patients with germline MUTYH mutations

Maartje Nielsen, Frederik J Hes, Hans FA Vasen, Wilbert B van den Hout BMC Medical Genetics 2007, 8:42 (2 July 2007)

Abstract | Full text | PDF | PubMed

Research article   Open Access Highly Accessed

Dominant inhibition of Fas ligand-mediated apoptosis due to a heterozygous mutation associated with autoimmune lymphoproliferative syndrome (ALPS) Type Ib

Lilia L Bi, George Pan, T Prescott Atkinson, Lixin Zheng, Janet K Dale, Christopher Makris, Vishnu Reddy, Jay M McDonald, Richard M Siegel, Jennifer M Puck, Michael J Lenardo, Stephen E Straus BMC Medical Genetics 2007, 8:41 (2 July 2007)

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


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