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Editor-in-Chief
Melissa Norton, MD Medical Editor
Jigisha Patel, MRCP PhD In-house Editor
Scott Edmunds
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| | BMC Medical Genetics, Volume 8 |
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Volume 8 Suppl 1
Research
more supplements 
Research article
 
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 (31December2007)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
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 Maria Mercader, Nathan Fischel-Ghodsian, Xavier Estivill
BMC Medical Genetics 2007, 8:81 (21December2007)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
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 (20December2007)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
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 Jr, Michel Marcil
BMC Medical Genetics 2007, 8:79 (18December2007)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
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 (11December2007)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
No evidence for association between tau gene haplotypic variants and susceptibility to Creutzfeldt-Jakob disease
Pascual S nchez-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 (11December2007)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
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 (10December2007)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
CD209 in inflammatory bowel disease: a case-control study in the Spanish population
Concepci n N  ez, Javier Oliver, Juan Luis Mendoza, Mar a Gmez-Garca, Carlos Taxonera, Luis M Gmez, Miguel A Lpez-Nevot, Emilio G de la Concha, Elena Urcelay, Alfonso Martnez, Javier Martn
BMC Medical Genetics 2007, 8:75 (10December2007)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
Association of autism with polymorphisms in the paired-like homeodomain transcription factor 1 (PITX1) on chromosome 5q31: a candidate gene analysis
Anne Philippi, Fr dric Tores, Jrome Carayol, Francis Rousseau, Mlanie Letexier, Elke Roschmann, Pierre Lindenbaum, Abdel Benajjou, Karine Fontaine, Cline Vazart, Philippe Gesnouin, Peter Brooks, J rg Hager
BMC Medical Genetics 2007, 8:74 (6December2007)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
Impact of estrogen receptor gene polymorphisms and mRNA levels on obesity and lipolysis  a cohort study
Maria Nilsson, Ingrid Dahlman, Hong Jiao, Jan- ke Gustafsson, Peter Arner, Karin Dahlman-Wright
BMC Medical Genetics 2007, 8:73 (4December2007)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
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 (1December2007)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
The candidate genes TAF5L, TCF7, PDCD1, IL6 and ICAM1 cannot be excluded from having effects in type 1 diabetes
Jason D Cooper, Deborah J Smyth, Rebecca Bailey, Felicity Payne, Kate Downes, Lisa M Godfrey, Jennifer Masters, Lauren R Zeitels, Adrian Vella, Neil M Walker, John A Todd
BMC Medical Genetics 2007, 8:71 (28November2007)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
Single nucleotide polymorphisms in bone turnover-related genes in Koreans: ethnic differences in linkage disequilibrium and haplotype
Kyung-Seon Kim, Ghi-Su Kim, Joo-Yeon Hwang, Hye-Ja Lee, Mi-Hyun Park, Kwang-joong Kim, Jongsun Jung, Hyo-Soung Cha, Hyoung Doo Shin, Jong-Ho Kang, Eui Kyun Park, Tae-Ho Kim, Jung-Min Hong, Jung-Min Koh, Bermseok Oh, Kuchan Kimm, Shin-Yoon Kim, Jong-Young Lee
BMC Medical Genetics 2007, 8:70 (26November2007)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
Prevalence of H63D, S65C and C282Y hereditary hemochromatosis gene mutations in Slovenian population by an improved high-throughput genotyping assay
Marko Cukjati, Toma Vaupoti , Ruth Rupreht, Vladka  urin- erbec
BMC Medical Genetics 2007, 8:69 (23November2007)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly
Joseph D Buxbaum, Guiqing Cai, Gudrun Nygren, Pauline Chaste, Richard Delorme, Juliet Goldsmith, Maria R stam, Jeremy M Silverman, Eric Hollander, Christopher Gillberg, Marion Leboyer, Catalina Betancur
BMC Medical Genetics 2007, 8:68 (14November2007)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
CADASIL in Arabs: clinical and genetic findings
Saeed Bohlega, Asmahan Al Shubili, Abdulrahman Edris, Abdulrahman Alreshaid, Thamer AlKhairallah, M Walid AlSous, Samir Farah, Khaled K Abu-Amero
BMC Medical Genetics 2007, 8:67 (9November2007)
[Abstract] [Full text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central]
Research article
Exploring the functional role of the CHRM2 gene in human cognition: results from a dense genotyping and brain expression study
Florencia M Gosso, Eco JC de Geus, Tinca JC Polderman, Dorret I Boomsma, Danielle Posthuma, Peter Heutink
BMC Medical Genetics 2007, 8:66 (8November2007)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
Missense mutations in Desmocollin-2 N-terminus, associated with arrhythmogenic right ventricular cardiomyopathy, affect intracellular localization of desmocollin-2 in vitro
Giorgia Beffagna, Marzia De Bortoli, Andrea Nava, Michela Salamon, Alessandra Lorenzon, Manuela Zaccolo, Luisa Mancuso, Luca Sigalotti, Barbara Bauce, Gianluca Occhi, Cristina Basso, Gerolamo Lanfranchi, Jeffrey A Towbin, Gaetano Thiene, Gian Antonio Danieli, Alessandra Rampazzo
BMC Medical Genetics 2007, 8:65 (26October2007)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle
Randy J Chandler, Jennifer Sloan, Hong Fu, Matthew Tsai, Sally Stabler, Robert Allen, Klaus H Kaestner, Haig H Kazazian, Charles P Venditti
BMC Medical Genetics 2007, 8:64 (15October2007)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Commentary
The Framingham Heart Study, on its way to becoming the gold standard for Cardiovascular Genetic Epidemiology?
Cashell E Jaquish
BMC Medical Genetics 2007, 8:63 (4October2007)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
Genetic variants of Complement factor H gene are not associated with premature coronary heart disease: a family-based study in the Irish population
Weihua Meng, Anne Hughes, Chris C Patterson, Christine Belton, Muhammad S Kamaruddin, Paul G Horan, Frank Kee, Pascal P McKeown
BMC Medical Genetics 2007, 8:62 (18September2007)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
Interactions between the adducin 2 gene and antihypertensive drug therapies in determining blood pressure in people with hypertension
Sharon LR Kardia, Yan V Sun, Sara C Hamon, Ruth Ann Barkley, Eric Boerwinkle, Stephen T Turner
BMC Medical Genetics 2007, 8:61 (13September2007)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Study protocol
The Fangshan/Family-based Ischemic Stroke Study In China (FISSIC) protocol
Xun Tang, Yonghua Hu, Dafang Chen, Siyan Zhan, Zongxin Zhang, Huidong Dou
BMC Medical Genetics 2007, 8:60 (10September2007)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
Gene sequence variations of the platelet P2Y12 receptor are associated with coronary artery disease
Ugo Cavallari, Elisabetta Trabetti, Giovanni Malerba, Michele Biscuola, Domenico Girelli, Oliviero Olivieri, Nicola Martinelli, Dominick J Angiolillo, Roberto Corrocher, Pier Franco Pignatti
BMC Medical Genetics 2007, 8:59 (5September2007)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly
Muhammad Jawad Hassan, Maryam Khurshid, Zahid Azeem, Peter John, Ghazanfar Ali, Muhammad Salman Chishti, Wasim Ahmad
BMC Medical Genetics 2007, 8:58 (1September2007)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
Association analysis of chromosome 1 migraine candidate genes
Francesca Fernandez, Robert P Curtain, Natalie J Colson, Micky Ovcaric, John MacMillan, Lyn R Griffiths
BMC Medical Genetics 2007, 8:57 (29August2007)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
The D9N, N291S and S447X variants in the lipoprotein lipase (LPL) gene are not associated with Type III Hyperlipidemia
David Evans, Frank U Beil
BMC Medical Genetics 2007, 8:56 (29August2007)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
PPAR L162V underlies variation in serum triglycerides and subcutaneous fat volume in young males
Julieta Uthurralt, Heather Gordish-Dressman, Meg Bradbury, Carolina Tesi-Rocha, Joseph Devaney, Brennan Harmon, Erica K Reeves, Cinzia Brandoli, Barbara C Hansen, Richard L Seip, Paul D Thompson, Thomas B Price, Theodore J Angelopoulos, Priscilla M Clarkson, Niall M Moyna, Linda S Pescatello, Paul S Visich, Robert F Zoeller, Paul M Gordon, Eric P Hoffman
BMC Medical Genetics 2007, 8:55 (16August2007)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
Susceptibility to type 1 diabetes conferred by the PTPN22 C1858T polymorphism in the Spanish population
Jose Luis Santiago, Alfonso Martnez, Hermenegildo de la Calle, Miguel Fernndez-Arquero, M  ngeles Figueredo, Emilio G de la Concha, Elena Urcelay
BMC Medical Genetics 2007, 8:54 (13August2007)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
Analysis of KLF transcription factor family gene variants in type 2 diabetes
Ruth Gutirrez-Aguilar, Yamina Benmezroua, Emmanuel Vaillant, Beverley Balkau, Michel Marre, Guillaume Charpentier, Rob Sladek, Philippe Froguel, Bernadette Neve
BMC Medical Genetics 2007, 8:53 (9August2007)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
A novel DSPP mutation is associated with type II dentinogenesis Imperfecta in a chinese family
Xianqin Zhang, Lanying Chen, Jingyu Liu, Zhen Zhao, Erjun Qu, Xiaotao Wang, Wei Chang, Chengqi Xu, Qing K Wang, Mugen Liu
BMC Medical Genetics 2007, 8:52 (8August2007)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
The TCF7L2 locus and type 1 diabetes
Hui-Qi Qu, Constantin Polychronakos
BMC Medical Genetics 2007, 8:51 (3August2007)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
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 Yeon Kim, Allen S Yang, Gary C Kanel, Simon Tavar, Darryl Shibata
BMC Medical Genetics 2007, 8:50 (31July2007)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
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 (31July2007)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
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 (26July2007)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
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 (23July2007)
[Abstract] [Full text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central]
Research article
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 (17July2007)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
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 (17July2007)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
Secretory granule neuroendocrine protein 1 (SGNE1) genetic variation and glucose intolerance in severe childhood and adult obesity
Nabila Bouatia-Naji, Vincent Vatin, Ccile Lecoeur, Barbara Heude, Christine Proen a, Jacques Veslot, Batrice Jouret, Jean Tichet, Guillaume Charpentier, Michel Marre, Beverley Balkau, Philippe Froguel, David Meyre
BMC Medical Genetics 2007, 8:44 (7July2007)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
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 (5July2007)
[Abstract] [Full text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central]
Research article
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 (2July2007)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
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 (2July2007)
[Abstract] [Full text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central]
Research article
Multiplex SNaPshot for detection of BRCA1/2 common mutations in Spanish and Spanish related breast/ovarian cancer families
Sandra Filippini, Ana Blanco, Ana Fernndez-Marmiesse, Vanesa lvarez-Iglesias, Clara Ruz-Ponte, ngel Carracedo, Ana Vega
BMC Medical Genetics 2007, 8:40 (29June2007)
[Abstract] [Full text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central]
Research article
Polymorphism of the FABP2 gene: a population frequency analysis and an association study with cardiovascular risk markers in Argentina
Laura C Gomez, Sebastin M Real, Marta S Ojeda, Sergio Gimenez, Luis S Mayorga, Mara Roqu
BMC Medical Genetics 2007, 8:39 (26June2007)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
Mutations in the 3'-untranslated region of GATA4 as molecular hotspots for congenital heart disease (CHD)
Stella Marie Reamon-Buettner, Si-Hyen Cho, Juergen Borlak
BMC Medical Genetics 2007, 8:38 (25June2007)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
TCF7L2 rs7903146 variant does not associate with smallness for gestational age in the French population
Stphane Cauchi, David Meyre, Hl ne Choquet, Samia Deghmoun, Emmanuelle Durand, Stefan Gaget, Ccile Lecoeur, Philippe Froguel, Claire Levy-Marchal
BMC Medical Genetics 2007, 8:37 (25June2007)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
Cerebellar gene expression profiles of mouse models for Rett syndrome reveal novel MeCP2 targets
ChaRandle Jordan, Hong Hua Li, Helen C Kwan, Uta Francke
BMC Medical Genetics 2007, 8:36 (20June2007)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
The interactive role of type 2 diabetes mellitus and E-selectin S128R mutation on susceptibility to coronary heart disease
Khaled K Abu-Amero, Futwan Al-Mohanna, Olayan M Al-Boudari, Gamal H Mohamed, Nduna Dzimiri
BMC Medical Genetics 2007, 8:35 (20June2007)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
The impact of the Catechol-O-methyltransferase Val158Met polymorphism on survival in the general population the HUNT study
Knut Hagen, Lars J Stovner, Frank Skorpen, Elin Pettersen, John-Anker Zwart
BMC Medical Genetics 2007, 8:34 (19June2007)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
Lack of association between the chemokine receptor 5 polymorphism CCR5delta32 in rheumatoid arthritis and juvenile idiopathic arthritis
Ewald Lindner, Gry BN Nordang, Espen Melum, Berit Flat , Anne Marit Selvaag, Erik Thorsby, Tore K Kvien,  ystein T Frre, Benedicte A Lie
BMC Medical Genetics 2007, 8:33 (12June2007)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
High occurrence of BRCA1 intragenic rearrangements in hereditary breast and ovarian cancer syndrome in the Czech Republic
Petra Vasickova, Eva Machackova, Miroslava Lukesova, Jiri Damborsky, Ondrej Horky, Hana Pavlu, Jitka Kuklova, Veronika Kosinova, Marie Navratilova, Lenka Foretova
BMC Medical Genetics 2007, 8:32 (11June2007)
[Abstract] [Full text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central]
Software
PediDraw: A web-based tool for drawing a pedigree in genetic counseling
Min He, Wei Li
BMC Medical Genetics 2007, 8:31 (8June2007)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
The effect of ABCA1 gene polymorphisms on ischaemic stroke risk and relationship with lipid profile
Alireza Pasdar, Ghasem Yadegarfar, Alastair Cumming, Lawrence Whalley, David St Clair, Mary-Joan MacLeod
BMC Medical Genetics 2007, 8:30 (6June2007)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
The genetic study of three population microisolates in South Tyrol (MICROS): study design and epidemiological perspectives
Cristian Pattaro, Fabio Marroni, Alice Riegler, Deborah Mascalzoni, Irene Pichler, Claudia B Volpato, Umberta Dal Cero, Alessandro De Grandi, Clemens Egger, Agatha Eisendle, Christian Fuchsberger, Martin Ggele, Sara Pedrotti, Gerd K Pinggera, Stefan A Stefanov, Florian D Vogl, Christian J Wiedermann, Thomas Meitinger, Peter P Pramstaller
BMC Medical Genetics 2007, 8:29 (5June2007)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
Characterization of N-acetyltransferase 1 and 2 polymorphisms and haplotype analysis for inflammatory bowel disease and sporadic colorectal carcinoma
Suhal S Mahid, Daniel W Colliver, Nigel PS Crawford, Benjamin D Martini, Mark A Doll, David W Hein, Gary A Cobbs, Robert E Petras, Susan Galandiuk
BMC Medical Genetics 2007, 8:28 (30May2007)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
Renin-angiotensin-aldosterone system polymorphisms: a role or a hole in occurrence and long-term prognosis of acute myocardial infarction at young age
Erica Franco, Luigi Palumbo, Francesca Crobu, Matteo Anselmino, Simone Frea, Giuseppe Matullo, Alberto Piazza, Gian Paolo Trevi, Serena Bergerone
BMC Medical Genetics 2007, 8:27 (22May2007)
[Abstract] [Full text] [PDF] [PubMed] [Related articles] [Cited on BioMed Central]
Research article
A novel mutation in the WFS1 gene identified in a Taiwanese family with low-frequency hearing impairment
Hsun-Tien Tsai, Ying-Piao Wang, Shing-Fang Chung, Hung-Ching Lin, Guan-Min Ho, Min-Tsan Shu
BMC Medical Genetics 2007, 8:26 (22May2007)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions
Carmela Laperuta, Letizia Spizzichino, Pio D'Adamo, Jlenia Monfregola, Antonio Maiorino, Angela D'Eustacchio, Valerio Ventruto, Giovanni Neri, Michele D'Urso, Pietro Chiurazzi, Matilde Valeria Ursini, Maria Giuseppina Miano
BMC Medical Genetics 2007, 8:25 (4May2007)
[Abstract] [Full text] [PDF] [PubMed] [Related articles]
Research article
Adenoviral-mediated correction of methylmalonyl-CoA mutase deficiency in murine fibroblasts and human hepatocytes
Randy J Chandler, Matthew S Tsai, Kenneth Dorko, Jennifer Sloan, Mark Korson, Richard Freeman, Stephen Strom, Charles P Venditti
BMC Medical Genetics 2007, 8:24 (30April2007)
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