Skip to main content

Articles

Page 46 of 47

  1. Human cytochrome P450 3A enzymes, particularly CYP3A4 and CYP3A5, play an important role in drug metabolism. CYP3A expression exhibits substantial interindividual variation, much of which may result from genet...

    Authors: Adam A Garsa, Howard L McLeod and Sharon Marsh

    Citation: BMC Medical Genetics 2005 6:19

    Content type: Technical advance

    Published on:

  2. Prader-Willi syndrome (MIM #176270; PWS) is caused by lack of the paternally-derived copies, or their expression, of multiple genes in a 4 Mb region on chromosome 15q11.2. Known mechanisms include large deleti...

    Authors: Birgitt Schüle, Mohammed Albalwi, Emma Northrop, David I Francis, Margaret Rowell, Howard R Slater, RJ McKinlay Gardner and Uta Francke

    Citation: BMC Medical Genetics 2005 6:18

    Content type: Research article

    Published on:

  3. Subarachnoid hemorrhage (SAH) due to ruptured intracranial aneurysms (IAs) occurs in about 20,000 people per year in the U.S. annually and nearly half of the affected persons are dead within the first 30 days....

    Authors: Joseph P Broderick, Laura R Sauerbeck, Tatiana Foroud, John Huston III, Nathan Pankratz, Irene Meissner and Robert D Brown Jr

    Citation: BMC Medical Genetics 2005 6:17

    Content type: Study protocol

    Published on:

  4. X-linked mental retardation (XLMR) is the leading cause of mental retardation in males. Mutations in the ARX gene in Xp22.1 have been found in numerous families with both nonsyndromic and syndromic XLMR. The m...

    Authors: Monica L Stepp, A Lauren Cason, Merran Finnis, Marie Mangelsdorf, Elke Holinski-Feder, David Macgregor, Andrée MacMillan, Jeanette JA Holden, Jozef Gecz, Roger E Stevenson and Charles E Schwartz

    Citation: BMC Medical Genetics 2005 6:16

    Content type: Research article

    Published on:

  5. Familial Hypercholesterolemia (FH) is a common genetic disease and at the molecular level most often due to mutations in the LDL receptor gene. In genetically heterogeneous populations, major structural rearra...

    Authors: Dorte Damgaard, Peter H Nissen, Lillian G Jensen, Gitte G Nielsen, Anette Stenderup, Mogens L Larsen and Ole Faergeman

    Citation: BMC Medical Genetics 2005 6:15

    Content type: Technical advance

    Published on:

  6. Disturbances in serotonin neurotransmission are implicated in the etiology of many psychiatric disorders, including bipolar affective disorder (BPD). The tryptophan hydroxylase gene (TPH), which codes for the enz...

    Authors: Te-Jen Lai, Chia-Yen Wu, Hsu-Wen Tsai, Yi-Mei J Lin and H Sunny Sun

    Citation: BMC Medical Genetics 2005 6:14

    Content type: Research article

    Published on:

  7. Polymorphism G1465A in the GABBR1 gene has been suggested as a risk factor for non-lesional temporal lobe epilepsy (TLE); however, this genetic association study has not been independently replicated. We attem...

    Authors: Shaochun Ma, Bassel Abou-Khalil, James S Sutcliffe, Jonathan L Haines and Peter Hedera

    Citation: BMC Medical Genetics 2005 6:13

    Content type: Research article

    Published on:

  8. We studied the molecular basis of NSHL in Republic of Altai (South Siberia, Russia). The Altaians are the indigenous Asian population of the Altai Mountain region considered as a melting-pot and a dispersion c...

    Authors: Olga Posukh, Nathalie Pallares-Ruiz, Vera Tadinova, Ludmila Osipova, Mireille Claustres and Anne-Françoise Roux

    Citation: BMC Medical Genetics 2005 6:12

    Content type: Research article

    Published on:

  9. The Pro12Ala Single Nucleotide Polymorphism (SNP) of the Peroxisome Proliferator-Activated Receptor gamma 2 (PPAR-gamma 2) has been associated with insulin resistance and type 2 diabetes (T2D) and also inconsiste...

    Authors: Maya Ghoussaini, David Meyre, Stéphane Lobbens, Guillaume Charpentier, Karine Clément, Marie-Aline Charles, Maïté Tauber, Jacques Weill and Philippe Froguel

    Citation: BMC Medical Genetics 2005 6:11

    Content type: Research article

    Published on:

  10. Significant evidence suggests that a promoter polymorphism withinthe gene SLC11A1 is involved in susceptibility to both autoimmune and infectious disorders. The aim of this study was to evaluate whether SLC11A1 h...

    Authors: Nigel PS Crawford, Maurice R Eichenberger, Daniel W Colliver, Robert K Lewis, Gary A Cobbs, Robert E Petras and Susan Galandiuk

    Citation: BMC Medical Genetics 2005 6:10

    Content type: Research article

    Published on:

  11. Fragility fractures caused by osteoporosis are a major cause of morbidity and mortality in aging populations. Bone mineral density (BMD) is a useful surrogate marker for risk of fracture and is a highly herita...

    Authors: Richard H Reneland, Steven Mah, Stefan Kammerer, Carolyn R Hoyal, George Marnellos, Scott G Wilson, Philip N Sambrook, Tim D Spector, Matthew R Nelson and Andreas Braun

    Citation: BMC Medical Genetics 2005 6:9

    Content type: Research article

    Published on:

  12. CHARGE syndrome is a complex of birth defects including coloboma, choanal atresia, ear malformations and deafness, cardiac defects, and growth delay. We have previously hypothesized that CHARGE syndrome could ...

    Authors: Seema R Lalani, Arsalan M Safiullah, Susan D Fernbach, Michael Phillips, Carlos A Bacino, Laura M Molinari, Nancy L Glass, Jeffrey A Towbin, William J Craigen and John W Belmont

    Citation: BMC Medical Genetics 2005 6:8

    Content type: Research article

    Published on:

  13. Familial hypercholesterolemia is a human monogenic disease caused by population-specific mutations in the low density lipoprotein (LDL) receptor gene. Despite thirteen different mutations of the LDL receptor g...

    Authors: Faina M Zakharova, Dorte Damgaard, Michail Y Mandelshtam, Valery I Golubkov, Peter H Nissen, Gitte G Nilsen, Anette Stenderup, Boris M Lipovetsky, Vladimir O Konstantinov, Alexander D Denisenko, Vadim B Vasilyev and Ole Faergeman

    Citation: BMC Medical Genetics 2005 6:6

    Content type: Research article

    Published on:

  14. Familial Juvenile Hyperuricemic Nephropathy is an autosomal dominant nephropathy, characterized by decreased urate excretion and progressive interstitial nephritis. Mutations in the uromodulin coding UMOD gene...

    Authors: Joaquim Calado, Augusta Gaspar, Carla Clemente and José Rueff

    Citation: BMC Medical Genetics 2005 6:5

    Content type: Case report

    Published on:

  15. Rare mutations of the epithelial sodium channel (ENaC) result in the monogenic hypertension form of Liddle's syndrome. We decided to screen for common variants in the ENaC βand γ subunits in patients with esse...

    Authors: Tuula Hannila-Handelberg, Kimmo Kontula, Ilkka Tikkanen, Tuula Tikkanen, Frej Fyhrquist, Karri Helin, Heidi Fodstad, Kirsi Piippo, Helena E Miettinen, Jarmo Virtamo, Tom Krusius, Seppo Sarna, Ivan Gautschi, Laurent Schild and Timo P Hiltunen

    Citation: BMC Medical Genetics 2005 6:4

    Content type: Research article

    Published on:

  16. Currently, there is no adequate animal model to study the detailed molecular biochemistry of fragile X syndrome, the leading heritable form of mental impairment. In this study, we sought to establish the use o...

    Authors: Philip H Schwartz, Flora Tassone, Claudia M Greco, Hubert E Nethercott, Boback Ziaeian, Randi J Hagerman and Paul J Hagerman

    Citation: BMC Medical Genetics 2005 6:2

    Content type: Technical advance

    Published on:

  17. Autism is a neurobehavioral spectrum of phenotypes characterized by deficits in the development of language and social relationships and patterns of repetitive, rigid and compulsive behaviors. Twin and family ...

    Authors: Jacob L McCauley, Chun Li, Lan Jiang, Lana M Olson, Genea Crockett, Kimberly Gainer, Susan E Folstein, Jonathan L Haines and James S Sutcliffe

    Citation: BMC Medical Genetics 2005 6:1

    Content type: Research article

    Published on:

  18. An association has been observed between the catechol-O-methyltransferase (COMT) gene, the predominant means of catecholamine catabolism within the prefrontal cortex (PFC), and neuropsychological task performance...

    Authors: Evan Taerk, Natalie Grizenko, Leila Ben Amor, Philippe Lageix, Valentin Mbekou, Rosherie Deguzman, Adam Torkaman-Zehi, Marina Ter Stepanian, Chantal Baron and Ridha Joober

    Citation: BMC Medical Genetics 2004 5:30

    Content type: Research article

    Published on:

  19. Homozygosity or compound heterozygosity for coding region mutations of the hemojuvelin gene (HJV) in whites is a cause of early age-of-onset iron overload (juvenile hemochromatosis), and of hemochromatosis phenot...

    Authors: James C Barton, Charles A Rivers, Sandrine Niyongere, Sean B Bohannon and Ronald T Acton

    Citation: BMC Medical Genetics 2004 5:29

    Content type: Research article

    Published on:

  20. The increasing number of available genotypes for genetic studies in humans requires more advanced techniques of analysis. We previously reported significant univariate associations between gene polymorphisms a...

    Authors: Alessandro Serretti and Enrico Smeraldi

    Citation: BMC Medical Genetics 2004 5:27

    Content type: Research article

    Published on:

  21. Cystic fibrosis (CF) lung disease manifest by impaired chloride secretion leads to eventual respiratory failure. Candidate genes that may modify CF lung disease severity include alternative chloride channels. ...

    Authors: Carol J Blaisdell, Timothy D Howard, Augustus Stern, Penelope Bamford, Eugene R Bleecker and O Colin Stine

    Citation: BMC Medical Genetics 2004 5:26

    Content type: Research article

    Published on:

  22. The present study is an analysis of the frequencies of HLA-A and -B antigens and HLA haplotypes in two groups of individuals homozygous for the two main HFE mutations (C282Y and H63D) and a group heterozygous for...

    Authors: Arantza Pacho, Esther Mancebo, Manuel J del Rey, Maria J Castro, Desamparados Oliver, Miguel García-Berciano, Luis González and Pablo Morales

    Citation: BMC Medical Genetics 2004 5:25

    Content type: Research article

    Published on:

  23. Mutant alleles of TMPRSS3 are associated with nonsyndromic recessive deafness (DFNB8/B10). TMPRSS3 encodes a predicted secreted serine protease, although the deduced amino acid sequence has no signal peptide. In ...

    Authors: Zubair M Ahmed, Xiaoyan Cindy Li, Shontell D Powell, Saima Riazuddin, Terry-Lynn Young, Khushnooda Ramzan, Zahoor Ahmad, Sandra Luscombe, Kiran Dhillon, Linda MacLaren, Barbara Ploplis, Lawrence I Shotland, Elizabeth Ives, Sheikh Riazuddin, Thomas B Friedman, Robert J Morell…

    Citation: BMC Medical Genetics 2004 5:24

    Content type: Research article

    Published on:

  24. The Angiotensin Converting Enzyme (ACE) insertion/deletion (I/D) polymorphism has received much attention in pharmacogenetic research because observed variations in response to ACE inhibitors might be associat...

    Authors: M Scharplatz, MA Puhan, J Steurer and LM Bachmann

    Citation: BMC Medical Genetics 2004 5:23

    Content type: Study protocol

    Published on:

  25. The TM4SF10 gene encodes a putative four-transmembrane domains protein of unknown function termed Brain Cell Membrane Protein 1 (BCMP1), and is abundantly expressed in the brain. This gene is located on the sh...

    Authors: Christiane Christophe-Hobertus, Frank Kooy, Jozef Gecz, Marc J Abramowicz, Elke Holinski-Feder, Charles Schwartz and Daniel Christophe

    Citation: BMC Medical Genetics 2004 5:22

    Content type: Research article

    Published on:

  26. Cryptic structural abnormalities within the subtelomeric regions of chromosomes have been the focus of much recent research because of their discovery in a percentage of people with mental retardation (UK term...

    Authors: Ben S Pickard, Edward J Hollox, M Pat Malloy, David J Porteous, Douglas HR Blackwood, John AL Armour and Walter J Muir

    Citation: BMC Medical Genetics 2004 5:21

    Content type: Research article

    Published on:

  27. To determine whether previously reported loci predisposing to nonsyndromic high myopia show linkage to common myopia in pedigrees from two ethnic groups: Ashkenazi Jewish and Amish. We hypothesized that these ...

    Authors: Grace Ibay, Betty Doan, Lauren Reider, Debra Dana, Melissa Schlifka, Heping Hu, Taura Holmes, Jennifer O'Neill, Robert Owens, Elise Ciner, Joan E Bailey–Wilson and Dwight Stambolian

    Citation: BMC Medical Genetics 2004 5:20

    Content type: Research article

    Published on:

  28. To contribute further to the classification of three CFTR amino acid changes (p.I148T, p.R74W and p.D1270N) either as CF or CBAVD-causing mutations or as neutral variations.

    Authors: Mireille Claustres, Jean-Pierre Altiéri, Caroline Guittard, Carine Templin, Françoise Chevalier-Porst and Marie Des Georges

    Citation: BMC Medical Genetics 2004 5:19

    Content type: Research article

    Published on:

  29. Thirty-nine patients have been described with deletions involving chromosome 6p25. However, relatively few of these deletions have had molecular characterization. Common phenotypes of 6p25 deletion syndrome pa...

    Authors: Douglas B Gould, Mohamad S Jaafar, Mark K Addison, Francis Munier, Robert Ritch, Ian M MacDonald and Michael A Walter

    Citation: BMC Medical Genetics 2004 5:17

    Content type: Research article

    Published on:

  30. Hereditary non-polyposis colorectal cancer (HNPCC) is an autosomal dominant disease with a high risk for colorectal and endometrial cancer caused by germline mutations in DNA mismatch-repair genes (MMR). HNPCC...

    Authors: Erdmute Kunstmann, Judith Vieland, Frank E Brasch, Stephan A Hahn, Joerg T Epplen, Karsten Schulmann and Wolff Schmiegel

    Citation: BMC Medical Genetics 2004 5:16

    Content type: Research article

    Published on:

  31. Clefts of the lip, alveolus, and palate (CLPs) rank among the most frequent and significant congenital malformations. Leu10Pro and Arg25Pro polymorphisms in the precursor region and Thr263Ile polymorphism in t...

    Authors: Christian Stoll, Senait Mengsteab, Doris Stoll, Dieter Riediger, Axel M Gressner and Ralf Weiskirchen

    Citation: BMC Medical Genetics 2004 5:15

    Content type: Research article

    Published on:

  32. The p73 protein, a paralogue of the p53 tumor suppressor, is essential for normal development and survival of neurons. TP73 is therefore of interest as a candidate gene for Alzheimer's disease (AD) susceptibility...

    Authors: Quanyi Li, Eleni S Athan, Michelle Wei, Eric Yuan, Samuel L Rice, Jean-Paul Vonsattel, Richard P Mayeux and Benjamin Tycko

    Citation: BMC Medical Genetics 2004 5:14

    Content type: Research article

    Published on:

  33. Elevated white blood cell counts (WBC) in acute coronary syndromes (ACS) increase the risk of recurrent events, but it is not known if this is exacerbated by pro-inflammatory factors. We sought to identify whe...

    Authors: Connie E Byrne, Anthony Fitzgerald, Christopher P Cannon, Desmond J Fitzgerald and Denis C Shields

    Citation: BMC Medical Genetics 2004 5:13

    Content type: Research article

    Published on:

  34. A substantial body of research supports a genetic involvement in autism. Furthermore, results from various genomic screens implicate a region on chromosome 7q31 as harboring an autism susceptibility variant. W...

    Authors: Holli B Hutcheson, Lana M Olson, Yuki Bradford, Susan E Folstein, Susan L Santangelo, James S Sutcliffe and Jonathan L Haines

    Citation: BMC Medical Genetics 2004 5:12

    Content type: Research article

    Published on:

  35. Autism is a pervasive developmental disorder characterized by a triad of deficits: qualitative impairments in social interactions, communication deficits, and repetitive and stereotyped patterns of behavior. A...

    Authors: Subhadra Ramanathan, Abigail Woodroffe, Pamela L Flodman, Lee Z Mays, Mona Hanouni, Charlotte B Modahl, Robin Steinberg-Epstein, Maureen E Bocian, M Anne Spence and Moyra Smith

    Citation: BMC Medical Genetics 2004 5:10

    Content type: Case report

    Published on:

  36. Mutations in the transcription factor gene PAX6 have been shown to be the cause of the aniridia phenotype. The purpose of this study was to analyze patients with aniridia to uncover PAX6 gene mutations in south I...

    Authors: Guruswamy Neethirajan, Subbaiah Ramasamy Krishnadas, Perumalsamy Vijayalakshmi, Shetty Shashikant and Periasamy Sundaresan

    Citation: BMC Medical Genetics 2004 5:9

    Content type: Research article

    Published on:

  37. Cystic fibrosis (CF) is a multisystem disorder characterised by mutations of the CFTR gene, which encodes for an important component in the coordination of electrolyte movement across of epithelial cell membranes...

    Authors: Maria Rosaria D'Apice, Stefano Gambardella, Mario Bengala, Silvia Russo, Anna Maria Nardone, Vincenzina Lucidi, Federica Sangiuolo and Giuseppe Novelli

    Citation: BMC Medical Genetics 2004 5:8

    Content type: Technical advance

    Published on:

  38. Huntington's disease (HD) is a fully penetrant, autosomal dominantly inherited disorder associated with abnormal expansions of a stretch of perfect CAG repeats in the 5' part of the IT15 gene. The number of repea...

    Authors: Larissa Arning, Peter Jagiello, Stefan Wieczorek, Carsten Saft, Jürgen Andrich and Jörg T Epplen

    Citation: BMC Medical Genetics 2004 5:7

    Content type: Research article

    Published on:

  39. Alzheimer's disease is multifactorial, having environmental, toxicological and genetic risk factors. Impaired folate and homocysteine metabolism has been hypothesised to increase risk. In addition to its xenob...

    Authors: Nichola Johnson, Peter Bell, Vesna Jonovska, Marc Budge and Edith Sim

    Citation: BMC Medical Genetics 2004 5:6

    Content type: Research article

    Published on:

  40. Mutations in the GJB2 gene have been established as a major cause of inherited non syndromic deafness in different populations. A high number of sequence variations have been described in the GJB2 gene and the as...

    Authors: Anne-Françoise Roux, Nathalie Pallares-Ruiz, Anne Vielle, Valérie Faugère, Carine Templin, Dorothée Leprevost, Françoise Artières, Geneviève Lina, Nicolas Molinari, Patricia Blanchet, Michel Mondain and Mireille Claustres

    Citation: BMC Medical Genetics 2004 5:5

    Content type: Research article

    Published on:

  41. Familial mediterranean fever (FMF) is a recessively inherited disease characterized by recurrent crises of fever, abdominal, articular and/or thoracic pain. The most severe complication is the development of r...

    Authors: Myrna Medlej-Hashim, Valérie Delague, Eliane Chouery, Nabiha Salem, Mohammed Rawashdeh, Gérard Lefranc, Jacques Loiselet and André Mégarbané

    Citation: BMC Medical Genetics 2004 5:4

    Content type: Research article

    Published on:

  42. In studies on the genetics of human aging, we observed an age-related variation of the 3'APOB-VNTR genotypic pool (alleles: Short, S, <35 repeats; Medium, M, 35–39 repeats; Long, L, >39 repeats) with the homozygo...

    Authors: Sabrina Garasto, Maurizio Berardelli, Francesco DeRango, Vincenzo Mari, Emidio Feraco and Giovanna De Benedictis

    Citation: BMC Medical Genetics 2004 5:3

    Content type: Research article

    Published on:

  43. We have previously developed a long RT-PCR method for selective amplification of full-length PKD1 transcripts (13.6 kb) and a long-range PCR for amplification in the reiterated region (18 kb) covering exons 14 an...

    Authors: Wanna Thongnoppakhun, Chanin Limwongse, Kriengsak Vareesangthip, Chintana Sirinavin, Duangkamon Bunditworapoom, Nanyawan Rungroj and Pa-thai Yenchitsomanus

    Citation: BMC Medical Genetics 2004 5:2

    Content type: Research article

    Published on:

  44. Hemihyperplasia (hemihypertrophy) is defined as asymmetric body overgrowth of one or more body parts. Hemihyperplasia can be isolated or be part of well-defined syndromes such as in the case of Beckwith-Wiedem...

    Authors: Heidi A Heilstedt and Carlos A Bacino

    Citation: BMC Medical Genetics 2004 5:1

    Content type: Case report

    Published on:

  45. The human leukocyte antigen (HLA) system is widely used as a strategy in the search for the etiology of infectious diseases and autoimmune disorders. During the Taiwan epidemic of severe acute respiratory synd...

    Authors: Marie Lin, Hsiang-Kuang Tseng, Jean A Trejaut, Hui-Lin Lee, Jun-Hun Loo, Chen-Chung Chu, Pei-Jan Chen, Ying-Wen Su, Ken Hong Lim, Zen-Uong Tsai, Ruey-Yi Lin, Ruey-Shiung Lin and Chun-Hsiung Huang

    Citation: BMC Medical Genetics 2003 4:9

    Content type: Case report

    Published on:

2019 Journal Metrics

Announcement

As a result of the significant disruption that is being caused by the COVID-19 pandemic we are very aware that many researchers will have difficulty in meeting the timelines associated with our peer review process during normal times.  Please do let us know if you need additional time. Our systems will continue to remind you of the original timelines but we intend to be highly flexible at this time.