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		Research article Aneuploidy in neuroblastoma tumors is not associated with inactivating point mutations in the STAG2 gene Anna Djos, Susanne Fransson, Per Kogner, Tommy Martinsson BMC Medical Genetics 2013, 14:102 (2 October 2013) Abstract \| Provisional PDF
		Research article Relationship between polymorphisms in vitamin D metabolism-related genes and the risk of rickets in Han Chinese children Yuling Zhang, Shufen Yang, Ye Liu, Lihong Ren BMC Medical Genetics 2013, 14:101 (30 September 2013) Abstract \| Provisional PDF \| PubMed
		Research article Defining the contribution of SNPs identified in asthma GWAS to clinical variables in asthmatic children Asif S Tulah, John W Holloway, Ian Sayers BMC Medical Genetics 2013, 14:100 (25 September 2013) Abstract \| Full text \| PDF \| PubMed
		Research article A PARK2 polymorphism associated with delayed neuropsychological sequelae after carbon monoxide poisoning Fei Liang, Wenqiang Li, Ping Zhang, Yanxia Zhang, Jiapeng Gu, Xiahong Wang, Hongxing Zhang, Renjun Gu BMC Medical Genetics 2013, 14:99 (25 September 2013) Abstract \| Full text \| PDF \| PubMed
		Research article Genetic variants associated with fasting glucose and insulin concentrations in an ethnically diverse population: results from the Population Architecture using Genomics and Epidemiology (PAGE) study Megan D Fesinmeyer, James B Meigs, Kari E North, Fredrick R Schumacher, Petra Bůžková, Nora Franceschini, Jeffrey Haessler, Robert Goodloe, Kylee L Spencer, Venkata Voruganti, Barbara V Howard, Rebecca Jackson, Laurence N Kolonel, Simin Liu, JoAnn E Manson, Kristine R Monroe, Kenneth Mukamal, Holli H Dilks, Sarah A Pendergrass, Andrew Nato, Peggy Wan, Lynne R Wilkens, Loic Marchand, José Ambite, Steven Buyske, Jose C Florez, Dana C Crawford, Lucia A Hindorff, Christopher A Haiman, Ulrike Peters, James S Pankow et al. BMC Medical Genetics 2013, 14:98 (25 September 2013) Abstract \| Full text \| PDF \| PubMed \| Cited on BioMed Central
		Research article Cancer-testis gene expression is associated with the methylenetetrahydrofolate reductase 677 C>T polymorphism in non-small cell lung carcinoma Kerem M Senses, Mithat Gonen, Ahmet R Barutcu, Zeynep Kalaylioglu, Murat Isbilen, Ozlen Konu, Yao T Chen, Nasser K Altorki, Ali O Gure BMC Medical Genetics 2013, 14:97 (24 September 2013) Abstract \| Full text \| PDF \| PubMed
		Research article The TCF7L2 rs7903146 (T) allele is associated with type 2 diabetes in urban Ghana: a hospital-based case–control study Ina Danquah, Till Othmer, Laura K Frank, George Bedu-Addo, Matthias B Schulze, Frank P Mockenhaupt BMC Medical Genetics 2013, 14:96 (23 September 2013) Abstract \| Full text \| PDF \| PubMed
		Research article OTOF mutation screening in Japanese severe to profound recessive hearing loss patients Yoh-ichiro Iwasa, Shin-ya Nishio, Hidekane Yoshimura, Yukihiko Kanda, Kozo Kumakawa, Satoko Abe, Yasushi Naito, Kyoko Nagai, Shin-ichi Usami BMC Medical Genetics 2013, 14:95 (22 September 2013) Abstract \| Full text \| PDF \| PubMed
		Research article Diagnostic laboratory testing for Charcot Marie Tooth disease (CMT): the spectrum of gene defects in Norwegian patients with CMT and its implications for future genetic test strategies Rune Østern, Toril Fagerheim, Helene Hjellnes, Bjørn Nygård, Svein I Mellgren, Øivind Nilssen BMC Medical Genetics 2013, 14:94 (21 September 2013) Abstract \| Full text \| PDF \| PubMed
		Research article Evaluation of DNA damage in COPD patients and its correlation with polymorphisms in repair genes Andréa Lúcia Gonçalves da Silva, Helen Tais da Rosa, Thaís Evelyn Karnopp, Clara Forrer Charlier, Joel Henrique Ellwanger, Dinara Jaqueline Moura, Lia Gonçalves Possuelo, Andréia Rosane de Moura Valim, Temenouga Nikolova Guecheva, João Antonio Pêgas Henriques BMC Medical Genetics 2013, 14:93 (20 September 2013) Abstract \| Full text \| PDF \| PubMed
		Case report Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A - evidence for “double trouble” overlapping syndromes Olivia Schreiber, Peter Schneiderat, Wolfram Kress, Bernd Rautenstrauss, Jan Senderek, Benedikt Schoser, Maggie C Walter BMC Medical Genetics 2013, 14:92 (16 September 2013) Abstract \| Full text \| PDF \| PubMed
		Research article Splice site SNPs of phospholipase PLCXD3 are significantly associated with variant and sporadic Creutzfeldt-Jakob disease Matthew T Bishop, Pascual Sanchez-Juan, Richard SG Knight BMC Medical Genetics 2013, 14:91 (12 September 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
		Research article Re-sequencing of the APOAI promoter region and the genetic association of the -75G > A polymorphism with increased cholesterol and low density lipoprotein levels among a sample of the Kuwaiti population Suzanne A Al-Bustan, Ahmad E Al-Serri, Babitha G Annice, Majed A Alnaqeeb, Ghada A Ebrahim BMC Medical Genetics 2013, 14:90 (12 September 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
		Case report Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy Anna Ardissone, Cinzia Bragato, Lorella Caffi, Flavia Blasevich, Sabrina Maestrini, Maria Bianchi, Lucia Morandi, Isabella Moroni, Marina Mora BMC Medical Genetics 2013, 14:89 (11 September 2013) Abstract \| Full text \| PDF \| PubMed
		Research article Incidence of hereditary amyloidosis and autoinflammatory diseases in Sweden: endemic and imported diseases Kari Hemminki, Xinjun Li, Asta Försti, Jan Sundquist, Kristina Sundquist BMC Medical Genetics 2013, 14:88 (3 September 2013) Abstract \| Full text \| PDF \| ePUB
		Research article DNA methylation within the I.4 promoter region correlates with CYPl19A1 gene expression in human ex vivo mature omental and subcutaneous adipocytes Joshua R Lewis, Tegan J McNab, Lawrence J Liew, Jeremy Tan, Phillip Hudson, Jenny Z Wang, Richard L Prince BMC Medical Genetics 2013, 14:87 (30 August 2013) Abstract \| Full text \| PDF \| ePUB
		Research article ITGB5 and AGFG1 variants are associated with severity of airway responsiveness Blanca E Himes, Weiliang Qiu, Barbara Klanderman, John Ziniti, Jody Senter-Sylvia, Stanley J Szefler, Robert F Lemanske, Jr, Robert S Zeiger, Robert C Strunk, Fernando D Martinez, Homer Boushey, Vernon M Chinchilli, Elliot Israel, David Mauger, Gerard H Koppelman, Maartje AE Nieuwenhuis, Dirkje S Postma, Judith M Vonk, Nicholas Rafaels, Nadia N Hansel, Kathleen Barnes, Benjamin Raby, Kelan G Tantisira, Scott T Weiss BMC Medical Genetics 2013, 14:86 (28 August 2013) Abstract \| Full text \| PDF \| PubMed
		Research article Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in pendred syndrome/enlarged vestibular aqueducts Priya Landa, Ann-Marie Differ, Kaukab Rajput, Lucy Jenkins, Maria Bitner-Glindzicz BMC Medical Genetics 2013, 14:85 (21 August 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
		Research article A catalase promoter variant rs1001179 is associated with visual acuity but not with primary angle closure glaucoma in Saudi patients Khaled K Abu-Amero, Taif Azad, Ahmed Mousa, Essam A Osman, Tahira Sultan, Saleh A Al-Obeidan BMC Medical Genetics 2013, 14:84 (20 August 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
		Research article Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology William J Craigen, Brett H Graham, Lee-Jun Wong, Fernando Scaglia, Richard Lewis, Penelope E Bonnen BMC Medical Genetics 2013, 14:83 (16 August 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
		Research article Evaluation of the need for routine clinical testing of PALB2 c.1592delT mutation in BRCA negative Northern Finnish breast cancer families Maria Haanpää, Katri Pylkäs, Jukka S Moilanen, Robert Winqvist BMC Medical Genetics 2013, 14:82 (13 August 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
		Case report Heterozygous p.Asp50Asn mutation in the GJB2 gene in two Cameroonian patients with keratitis-ichthyosis-deafness (KID) syndrome Ambroise Wonkam, Jean Noubiap, Jason Bosch, Collet Dandara, Geneviève Toure BMC Medical Genetics 2013, 14:81 (7 August 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
		Technical advance Development and validation of a multiplex-PCR assay for X-linked intellectual disability Paula Jorge, Bárbara Oliveira, Isabel Marques, Rosário Santos BMC Medical Genetics 2013, 14:80 (5 August 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
		Research article MS-MLPA analysis for FMR1 gene: evaluation in a routine diagnostic setting Valentina Gatta, Elena Gennaro, Sara Franchi, Massimiliano Cecconi, Ivana Antonucci, Marco Tommasi, Giandomenico Palka, Domenico Coviello, Liborio Stuppia, Marina Grasso BMC Medical Genetics 2013, 14:79 (5 August 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
		Research article Associations between serotonin transporter gene polymorphisms and heat pain perception in adults with chronic pain W Hooten, William R Hartman, John Black, Heidi J Laures, Denise L Walker BMC Medical Genetics 2013, 14:78 (30 July 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed \| Editor’s summary Intermediate expression of the triallelic serotonin transporter gene-linked polymorphic region (5-HTTLPR) is associated with heat pain perception threshold in adults suffering chronic pain.

	All
		Research article Aneuploidy in neuroblastoma tumors is not associated with inactivating point mutations in the STAG2 gene Anna Djos, Susanne Fransson, Per Kogner, Tommy Martinsson BMC Medical Genetics 2013, 14:102 (2 October 2013) Abstract \| Provisional PDF
		Research article Relationship between polymorphisms in vitamin D metabolism-related genes and the risk of rickets in Han Chinese children Yuling Zhang, Shufen Yang, Ye Liu, Lihong Ren BMC Medical Genetics 2013, 14:101 (30 September 2013) Abstract \| Provisional PDF \| PubMed
		Research article Defining the contribution of SNPs identified in asthma GWAS to clinical variables in asthmatic children Asif S Tulah, John W Holloway, Ian Sayers BMC Medical Genetics 2013, 14:100 (25 September 2013) Abstract \| Full text \| PDF \| PubMed
		Research article A PARK2 polymorphism associated with delayed neuropsychological sequelae after carbon monoxide poisoning Fei Liang, Wenqiang Li, Ping Zhang, Yanxia Zhang, Jiapeng Gu, Xiahong Wang, Hongxing Zhang, Renjun Gu BMC Medical Genetics 2013, 14:99 (25 September 2013) Abstract \| Full text \| PDF \| PubMed
		Research article Genetic variants associated with fasting glucose and insulin concentrations in an ethnically diverse population: results from the Population Architecture using Genomics and Epidemiology (PAGE) study Megan D Fesinmeyer, James B Meigs, Kari E North, Fredrick R Schumacher, Petra Bůžková, Nora Franceschini, Jeffrey Haessler, Robert Goodloe, Kylee L Spencer, Venkata Voruganti, Barbara V Howard, Rebecca Jackson, Laurence N Kolonel, Simin Liu, JoAnn E Manson, Kristine R Monroe, Kenneth Mukamal, Holli H Dilks, Sarah A Pendergrass, Andrew Nato, Peggy Wan, Lynne R Wilkens, Loic Marchand, José Ambite, Steven Buyske, Jose C Florez, Dana C Crawford, Lucia A Hindorff, Christopher A Haiman, Ulrike Peters, James S Pankow et al. BMC Medical Genetics 2013, 14:98 (25 September 2013) Abstract \| Full text \| PDF \| PubMed \| Cited on BioMed Central
		Research article Cancer-testis gene expression is associated with the methylenetetrahydrofolate reductase 677 C>T polymorphism in non-small cell lung carcinoma Kerem M Senses, Mithat Gonen, Ahmet R Barutcu, Zeynep Kalaylioglu, Murat Isbilen, Ozlen Konu, Yao T Chen, Nasser K Altorki, Ali O Gure BMC Medical Genetics 2013, 14:97 (24 September 2013) Abstract \| Full text \| PDF \| PubMed
		Research article The TCF7L2 rs7903146 (T) allele is associated with type 2 diabetes in urban Ghana: a hospital-based case–control study Ina Danquah, Till Othmer, Laura K Frank, George Bedu-Addo, Matthias B Schulze, Frank P Mockenhaupt BMC Medical Genetics 2013, 14:96 (23 September 2013) Abstract \| Full text \| PDF \| PubMed
		Research article OTOF mutation screening in Japanese severe to profound recessive hearing loss patients Yoh-ichiro Iwasa, Shin-ya Nishio, Hidekane Yoshimura, Yukihiko Kanda, Kozo Kumakawa, Satoko Abe, Yasushi Naito, Kyoko Nagai, Shin-ichi Usami BMC Medical Genetics 2013, 14:95 (22 September 2013) Abstract \| Full text \| PDF \| PubMed
		Research article Diagnostic laboratory testing for Charcot Marie Tooth disease (CMT): the spectrum of gene defects in Norwegian patients with CMT and its implications for future genetic test strategies Rune Østern, Toril Fagerheim, Helene Hjellnes, Bjørn Nygård, Svein I Mellgren, Øivind Nilssen BMC Medical Genetics 2013, 14:94 (21 September 2013) Abstract \| Full text \| PDF \| PubMed
		Research article Evaluation of DNA damage in COPD patients and its correlation with polymorphisms in repair genes Andréa Lúcia Gonçalves da Silva, Helen Tais da Rosa, Thaís Evelyn Karnopp, Clara Forrer Charlier, Joel Henrique Ellwanger, Dinara Jaqueline Moura, Lia Gonçalves Possuelo, Andréia Rosane de Moura Valim, Temenouga Nikolova Guecheva, João Antonio Pêgas Henriques BMC Medical Genetics 2013, 14:93 (20 September 2013) Abstract \| Full text \| PDF \| PubMed
		Case report Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A - evidence for “double trouble” overlapping syndromes Olivia Schreiber, Peter Schneiderat, Wolfram Kress, Bernd Rautenstrauss, Jan Senderek, Benedikt Schoser, Maggie C Walter BMC Medical Genetics 2013, 14:92 (16 September 2013) Abstract \| Full text \| PDF \| PubMed
		Research article Splice site SNPs of phospholipase PLCXD3 are significantly associated with variant and sporadic Creutzfeldt-Jakob disease Matthew T Bishop, Pascual Sanchez-Juan, Richard SG Knight BMC Medical Genetics 2013, 14:91 (12 September 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
		Research article Re-sequencing of the APOAI promoter region and the genetic association of the -75G > A polymorphism with increased cholesterol and low density lipoprotein levels among a sample of the Kuwaiti population Suzanne A Al-Bustan, Ahmad E Al-Serri, Babitha G Annice, Majed A Alnaqeeb, Ghada A Ebrahim BMC Medical Genetics 2013, 14:90 (12 September 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
		Case report Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy Anna Ardissone, Cinzia Bragato, Lorella Caffi, Flavia Blasevich, Sabrina Maestrini, Maria Bianchi, Lucia Morandi, Isabella Moroni, Marina Mora BMC Medical Genetics 2013, 14:89 (11 September 2013) Abstract \| Full text \| PDF \| PubMed
		Research article Incidence of hereditary amyloidosis and autoinflammatory diseases in Sweden: endemic and imported diseases Kari Hemminki, Xinjun Li, Asta Försti, Jan Sundquist, Kristina Sundquist BMC Medical Genetics 2013, 14:88 (3 September 2013) Abstract \| Full text \| PDF \| ePUB
		Research article DNA methylation within the I.4 promoter region correlates with CYPl19A1 gene expression in human ex vivo mature omental and subcutaneous adipocytes Joshua R Lewis, Tegan J McNab, Lawrence J Liew, Jeremy Tan, Phillip Hudson, Jenny Z Wang, Richard L Prince BMC Medical Genetics 2013, 14:87 (30 August 2013) Abstract \| Full text \| PDF \| ePUB
		Research article ITGB5 and AGFG1 variants are associated with severity of airway responsiveness Blanca E Himes, Weiliang Qiu, Barbara Klanderman, John Ziniti, Jody Senter-Sylvia, Stanley J Szefler, Robert F Lemanske, Jr, Robert S Zeiger, Robert C Strunk, Fernando D Martinez, Homer Boushey, Vernon M Chinchilli, Elliot Israel, David Mauger, Gerard H Koppelman, Maartje AE Nieuwenhuis, Dirkje S Postma, Judith M Vonk, Nicholas Rafaels, Nadia N Hansel, Kathleen Barnes, Benjamin Raby, Kelan G Tantisira, Scott T Weiss BMC Medical Genetics 2013, 14:86 (28 August 2013) Abstract \| Full text \| PDF \| PubMed
		Research article Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in pendred syndrome/enlarged vestibular aqueducts Priya Landa, Ann-Marie Differ, Kaukab Rajput, Lucy Jenkins, Maria Bitner-Glindzicz BMC Medical Genetics 2013, 14:85 (21 August 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
		Research article A catalase promoter variant rs1001179 is associated with visual acuity but not with primary angle closure glaucoma in Saudi patients Khaled K Abu-Amero, Taif Azad, Ahmed Mousa, Essam A Osman, Tahira Sultan, Saleh A Al-Obeidan BMC Medical Genetics 2013, 14:84 (20 August 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
		Research article Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology William J Craigen, Brett H Graham, Lee-Jun Wong, Fernando Scaglia, Richard Lewis, Penelope E Bonnen BMC Medical Genetics 2013, 14:83 (16 August 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
		Research article Evaluation of the need for routine clinical testing of PALB2 c.1592delT mutation in BRCA negative Northern Finnish breast cancer families Maria Haanpää, Katri Pylkäs, Jukka S Moilanen, Robert Winqvist BMC Medical Genetics 2013, 14:82 (13 August 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
		Case report Heterozygous p.Asp50Asn mutation in the GJB2 gene in two Cameroonian patients with keratitis-ichthyosis-deafness (KID) syndrome Ambroise Wonkam, Jean Noubiap, Jason Bosch, Collet Dandara, Geneviève Toure BMC Medical Genetics 2013, 14:81 (7 August 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
		Technical advance Development and validation of a multiplex-PCR assay for X-linked intellectual disability Paula Jorge, Bárbara Oliveira, Isabel Marques, Rosário Santos BMC Medical Genetics 2013, 14:80 (5 August 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
		Research article MS-MLPA analysis for FMR1 gene: evaluation in a routine diagnostic setting Valentina Gatta, Elena Gennaro, Sara Franchi, Massimiliano Cecconi, Ivana Antonucci, Marco Tommasi, Giandomenico Palka, Domenico Coviello, Liborio Stuppia, Marina Grasso BMC Medical Genetics 2013, 14:79 (5 August 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed
		Research article Associations between serotonin transporter gene polymorphisms and heat pain perception in adults with chronic pain W Hooten, William R Hartman, John Black, Heidi J Laures, Denise L Walker BMC Medical Genetics 2013, 14:78 (30 July 2013) Abstract \| Full text \| PDF \| ePUB \| PubMed \| Editor’s summary Intermediate expression of the triallelic serotonin transporter gene-linked polymorphic region (5-HTTLPR) is associated with heat pain perception threshold in adults suffering chronic pain.