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593 result(s) for 'impact factor' within BMC Medical Genetics

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  1. Hyperprolactinemia (HPRL) is a classical side effect of antipsychotic drugs primarily attributed to blockade of dopamine D2 receptors (DRD2s) on the membranes of lactotroph cells within the pituitary gland. Ce...

    Authors: Diana Z. Osmanova, Maxim B. Freidin, Olga Yu. Fedorenko, Ivan V. Pozhidaev, Anastasiia S. Boiko, Natalia M. Vyalova, Vladimir V. Tiguntsev, Elena G. Kornetova, Anton J. M. Loonen, Arkadiy V. Semke, Bob Wilffert, Nikolay A. Bokhan and Svetlana A. Ivanova
    Citation: BMC Medical Genetics 2019 20(Suppl 1):47
    Content type: Research Published on:

    This article is part of a Supplement: Volume 20 Supplement 1

  2. Left ventricular hypertrophy (LVH) is a valid predictor for cardiovascular mortality and morbidity regardless of age, gender, and race. The HyperGEN study conducted a genome-wide association study and identifi...

    Authors: Jin-Kyu Park, Mi Kyung Kim, Bo Youl Choi, Yusun Jung, Kyuyoung Song, Yu Mi Kim and Jinho Shin
    Citation: BMC Medical Genetics 2015 16:13
    Content type: Research article Published on:

  3. Copy number variants (CNVs) have been linked to neurodevelopmental disorders such as intellectual disability (ID), autism, epilepsy and psychiatric disease. There are few studies of CNVs in patients with both ...

    Authors: Andrew E. Fry, Elliott Rees, Rose Thompson, Kiran Mantripragada, Penny Blake, Glyn Jones, Sian Morgan, Sian Jose, Hood Mugalaasi, Hayley Archer, Emma McCann, Angus Clarke, Clare Taylor, Sally Davies, Frances Gibbon, Johann Te Water Naude…
    Citation: BMC Medical Genetics 2016 17:34
    Content type: Research article Published on:

  4. Platelet Endothelial Aggregation Receptor 1 (PEAR1), a membrane protein highly expressed in platelets and endothelial cells, plays a role in platelet contact-induced activation, sustained platelet aggregation ...

    Authors: Wen-Yi Yang, Thibault Petit, Nicholas Cauwenberghs, Zhen-Yu Zhang, Chang-Sheng Sheng, Lutgarde Thijs, Erika Salvi, Benedetta Izzi, Christophe Vandenbriele, Fang-Fei Wei, Yu-Mei Gu, Lotte Jacobs, Lorena Citterio, Simona Delli Carpini, Cristina Barlassina, Daniele Cusi…
    Citation: BMC Medical Genetics 2017 18:45
    Content type: Research article Published on:

  5. P19 H-Ras, a second product derived from the H-Ras gene by alternative splicing, induces a G1/S phase delay, thereby maintaining cells in a reversible quiescence state. When P21 H-Ras is mutated in tumour cells, ...

    Authors: Roseli García-Cruz, Maria Camats, George A. Calin, Chang-Gong Liu, Stefano Volinia, Cristian Taccioli, Carlo M. Croce and Montse Bach-Elias
    Citation: BMC Medical Genetics 2015 16:46
    Content type: Research article Published on:

  6. Epidemiological studies have demonstrated the influence of environmental factors on HBP in the population of Lithuanian children, although the role of genetic factors in hypertension has not yet been studied....A...

    Authors: Sandrita Simonyte, Renata Kuciene, Jurate Medzioniene, Virginija Dulskiene and Vaiva Lesauskaite
    Citation: BMC Medical Genetics 2017 18:100
    Content type: Research article Published on:

  7. Several studies have investigated the molecular drivers and therapeutic targets in adult soft tissue sarcomas. However, such studies are limited by the genomic heterogeneity and rarity of sarcomas, particularl...

    Authors: Jihyun Kim, June Hyuk Kim, Hyun Guy Kang, Seog Yun Park, Jung Yeon Yu, Eun Young Lee, Sung Eun Oh, Young Ho Kim, Tak Yun, Charny Park, Soo Young Cho and Hye Jin You
    Citation: BMC Medical Genetics 2018 19(Suppl 1):216
    Content type: Research Published on:

    This article is part of a Supplement: Volume 19 Supplement 1

  8. Raine syndrome (RS) – an extremely rare autosomal recessive genetic disorder, is caused by a biallelic mutation in the FAM20C gene. Some of the most common clinical features include generalized osteosclerosis wit...

    Authors: Jayesh Sheth, Riddhi Bhavsar, Ajit Gandhi, Frenny Sheth and Dhairya Pancholi
    Citation: BMC Medical Genetics 2018 19:76
    Content type: Case report Published on:

  9. In this study we investigated the association between SNPs in the S100B gene and Parkinson’s disease (PD) in two independent Swedish cohorts. The SNP rs9722 has previously been shown to be associated with high...

    Authors: Camilla Fardell, Anna Zettergren, Caroline Ran, Andrea Carmine Belin, Agneta Ekman, Olof Sydow, Lars Bäckman, Björn Holmberg, Nil Dizdar, Peter Söderkvist and Hans Nissbrandt
    Citation: BMC Medical Genetics 2018 19:42
    Content type: Research article Published on:

  10. To describe the clinical phenotype and genetic cause underlying the disease pathology in a pedigree (affected n = 9) with X-linked retinoschisis (XLRS1) due to a novel RS1 mutation and to assess suitability for n...

    Authors: Kirk Stephenson, Adrian Dockery, Niamh Wynne, Matthew Carrigan, Paul Kenna, G. Jane Farrar and David Keegan
    Citation: BMC Medical Genetics 2018 19:195
    Content type: Research article Published on:

  12. Estrogen deficiency effects on affective-related behavior are restricted to certain periods of age after ovary removal. Among other nutraceuticals, one of such «natural» substances for treatment of affective-r...

    Authors: Julia O. Fedotova
    Citation: BMC Medical Genetics 2019 20(Suppl 1):49
    Content type: Research Published on:

    This article is part of a Supplement: Volume 20 Supplement 1

  13. Metabolic syndrome is a cluster of factors associated with an increased risk of developing type 2 diabetes mellitus (T2D) and coronary artery disease (CAD). It is a complex disorder resulting from the interact...

    Authors: Monique Tremblay, Diane Brisson and Daniel Gaudet
    Citation: BMC Medical Genetics 2018 19:130
    Content type: Research article Published on:

  14. Predicting risk of disease from genotypes is being increasingly proposed for a variety of diagnostic and prognostic purposes. Genome-wide association studies (GWAS) have identified a large number of genome-wid...

    Authors: Guo-Bo Chen, Sang Hong Lee, Grant W. Montgomery, Naomi R. Wray, Peter M. Visscher, Richard B. Gearry, Ian C. Lawrance, Jane M. Andrews, Peter Bampton, Gillian Mahy, Sally Bell, Alissa Walsh, Susan Connor, Miles Sparrow, Lisa M. Bowdler, Lisa A. Simms…
    Citation: BMC Medical Genetics 2017 18:94
    Content type: Research article Published on:

  15. Maturity-onset diabetes of the young (MODY) is an early-onset, autosomal dominant form of non-insulin dependent diabetes. Genetic diagnosis of MODY can transform patient management. Earlier data on the genetic...

    Authors: Viswanathan Mohan, Venkatesan Radha, Thong T. Nguyen, Eric W. Stawiski, Kanika Bajaj Pahuja, Leonard D. Goldstein, Jennifer Tom, Ranjit Mohan Anjana, Monica Kong-Beltran, Tushar Bhangale, Suresh Jahnavi, Radhakrishnan Chandni, Vijay Gayathri, Paul George, Na Zhang, Sakthivel Murugan…
    Citation: BMC Medical Genetics 2018 19:22
    Content type: Research article Published on:

  16. Osteopetrosis is a rare inherited bone disorder mainly described as an increased bone density caused by defective osteoclastic bone resorption. To date, genetic variants of eleven genes have been reported so f...

    Authors: Muhammad Ajmal, Asif Mir, Sughra Wahid, Chiea Chuen Khor, Jia Nee Foo, Saima Siddiqi, Mehran Kauser, Salman Akbar Malik and Muhammad Nasir
    Citation: BMC Medical Genetics 2017 18:148
    Content type: Research article Published on:

  17. IARS2 encodes a mitochondrial isoleucyl-tRNA synthetase, a highly conserved nuclear-encoded enzyme required for the charging of tRNAs with their cognate amino acid for translation. Recently, pathogenic IARS2 vari...

    Authors: Barbara Vona, Reza Maroofian, Emanuele Bellacchio, Maryam Najafi, Kyle Thompson, Ahmad Alahmad, Langping He, Najmeh Ahangari, Abolfazl Rad, Sima Shahrokhzadeh, Paulina Bahena, Falk Mittag, Frank Traub, Jebrail Movaffagh, Nafise Amiri, Mohammad Doosti…
    Citation: BMC Medical Genetics 2018 19:196
    Content type: Research article Published on:

  18. Reference genes are often interchangeably called housekeeping genes due to 1) the essential cellular functions their proteins provide and 2) their constitutive expression across a range of normal and pathophys...

    Authors: Lai Xu, Helen Luo, Rong Wang, Wells W. Wu, Je-Nie Phue, Rong-Fong Shen, Hartmut Juhl, Leihong Wu, Wei-lun Alterovitz, Vahan Simonyan, Lorraine Pelosof and Amy S. Rosenberg
    Citation: BMC Medical Genetics 2019 20:138
    Content type: Research article Published on:

  19. Long QT syndrome (LQTS) is an autosomal dominant condition predisposing to sudden death from malignant arrhythmia. Genetic testing identifies many missense single nucleotide variants of uncertain pathogenicity...

    Authors: Ivone US Leong, Alexander Stuckey, Daniel Lai, Jonathan R Skinner and Donald R Love
    Citation: BMC Medical Genetics 2015 16:34
    Content type: Research article Published on:

  20. Bardet-Biedl syndrome (BBS) is a rare genetic disorder that features retinal degeneration, obesity, polydactyly, learning disabilities and renal abnormalities. The diagnosis is often missed at birth, the media...

    Authors: Gabriella Esposito, Francesco Testa, Miriam Zacchia, Anna Alessia Crispo, Valentina Di Iorio, Giovanna Capolongo, Luca Rinaldi, Marcella D’Antonio, Tiziana Fioretti, Pasquale Iadicicco, Settimio Rossi, Annamaria Franzè, Elio Marciano, Giovanbattista Capasso, Francesca Simonelli and Francesco Salvatore
    Citation: BMC Medical Genetics 2017 18:10
    Content type: Research article Published on:

  21. Nonphotosensitive trichothiodystrophy (TTDN) is a rare autosomal recessive disorder of neuroectodermal origin. The condition is marked by hair abnormalities, intellectual impairment, nail dystrophies and susce...

    Authors: Khadim Shah, Raja Hussain Ali, Muhammad Ansar, Kwanghyuk Lee, Muhammad Salman Chishti, Izoduwa Abbe, Biao Li, Joshua D. Smith, Deborah A. Nickerson, Jay Shendure, Paul J. Coucke, Wouter Steyaert, Michael J. Bamshad, Regie Lyn P. Santos-Cortez, Suzanne M. Leal and Wasim Ahmad
    Citation: BMC Medical Genetics 2016 17:13
    Content type: Research article Published on:

  22. Omphalocele is a congenital midline ventral body wall defect that can exist as isolated malformation or as part of a syndrome. It can be considered one of the major and most frequent clinical manifestation of ...

    Authors: Maria Francesca Bedeschi, Mariarosaria Calvello, Leda Paganini, Lidia Pezzani, Marco Baccarin, Laura Fontana, Silvia M. Sirchia, Silvana Guerneri, Lorena Canazza, Ernesto Leva, Lorenzo Colombo, Faustina Lalatta, Fabio Mosca, Silvia Tabano and Monica Miozzo
    Citation: BMC Medical Genetics 2017 18:115
    Content type: Research article Published on:

  23. Telomerase reverse transcriptase (TERT) maintains telomere ends during DNA replication by catalyzing the addition of short telomere repeats. The expression of telomerase is normally repressed in somatic cells ...

    Authors: Jan Bressler, Nora Franceschini, Ellen W. Demerath, Thomas H. Mosley, Aaron R. Folsom and Eric Boerwinkle
    Citation: BMC Medical Genetics 2015 16:52
    Content type: Research article Published on:

  24. Intellectual disability/developmental delay is a complex condition with extraordinary heterogeneity. A large proportion of patients lacks a specific diagnosis. Next generation sequencing, enabling identificati...

    Authors: Huifang Yan, Zhen Shi, Ye Wu, Jiangxi Xiao, Qiang Gu, Yanling Yang, Ming Li, Kai Gao, Yinyin Chen, Xiaoping Yang, Haoran Ji, Binbin Cao, Ruoyu Duan, Yuwu Jiang and Jingmin Wang
    Citation: BMC Medical Genetics 2019 20:80
    Content type: Research article Published on:

  25. This study is the first to show genome-wide significant association of rs28929474 in SERPINA1...with lung function. Of clinical importance, heterozygotes of rs28929474 (4.7% of subjects) have significantly reduce...

    Authors: Xingnan Li, Victor E. Ortega, Elizabeth J. Ampleford, R. Graham Barr, Stephanie A. Christenson, Christopher B. Cooper, David Couper, Mark T. Dransfield, Mei Lan K. Han, Nadia N. Hansel, Eric A. Hoffman, Richard E. Kanner, Eric C. Kleerup, Fernando J. Martinez, Robert Paine III, Prescott G. Woodruff…
    Citation: BMC Medical Genetics 2018 19:134
    Content type: Research article Published on:

  26. The objective of this study is to present a model to estimate sex-specific genetic effects on physical activity (PA) levels and sedentary behaviour (SB) using three generation families.

    Authors: Vincent P. Diego, Raquel Nichele de Chaves, John Blangero, Michele Caroline de Souza, Daniel Santos, Thayse Natacha Gomes, Fernanda Karina dos Santos, Rui Garganta, Peter T. Katzmarzyk and José AR Maia
    Citation: BMC Medical Genetics 2015 16:58
    Content type: Research article Published on:

  27. Breast cancer (BC) is the most common type of cancer in women. Among many risk factors of BC, mutations in BRCA2 gene were found to be the primary cause in 5–10% of cases. The majority of deleterious mutations ar...

    Authors: Alsmawal A. Elimam, Mohamed Elmogtba Mouaweia Mohamed Aabdein, Mohamed El-Fatih Moly Eldeen, Hisham N. Altayb, Mohamed Adel Taha, Mohammed N. Nimir, Mohamed D. Dafaalla, Musaab M. Alfaki, Mohamed A. Abdelrahim, Abdelmohaymin A. Abdalla, Musab I. Mohammed, Mona Ellaithi, Muzamil Mahdi Abdel Hamid and Mohamed Ahmed Salih Hassan
    Citation: BMC Medical Genetics 2017 18:85
    Content type: Research article Published on:

  28. Thyroid cancer is a common malignant disease of the endocrine system with increasing incidence rates over the last few decades. In this study, we sought to analyze the possible association of 45 single nucleot...

    Authors: Isabelle C. C. dos Santos, Julieta Genre, Diego Marques, Ananília M. G. da Silva, Jéssica C. dos Santos, Jéssica N. G. de Araújo, Victor H. R. Duarte, Angel Carracedo, Maria Torres-Español, Gisele Bastos, Carlos C. de Oliveira Ramos, André D. Luchessi and Vivian N. Silbiger
    Citation: BMC Medical Genetics 2017 18:140
    Content type: Research article Published on:

  29. Acute chorioamnionitis (aCA), inflammation of the placenta and fetal membranes, is a frequently reported lesion in preterm deliveries. Genetic variants in innate immune system genes such as Interleukin-6 (IL6) ma...

    Authors: Chaini Konwar, Giulia F. Del Gobbo, Jefferson Terry and Wendy P. Robinson
    Citation: BMC Medical Genetics 2019 20:36
    Content type: Research article Published on:

  30. Pseudohypoparathyroidism (PHP) is a rare disease whose phenotypic features are rather difficult to identify in some cases. Thus, although these patients may present with the Albright’s hereditary osteodystroph...

    Authors: Arrate Pereda, Intza Garin and Guiomar Perez de Nanclares
    Citation: BMC Medical Genetics 2018 19:32
    Content type: Research article Published on:

  31. CHARGE syndrome (MIM# 214800)—which is characterised by a number of congenital anomalies including coloboma, ear anomalies, deafness, facial anomalies, heart defects, atresia choanae, genital hypoplasia, growt...

    Authors: Evelina Siavrienė, Gunda Petraitytė, Violeta Mikštienė, Tautvydas Rančelis, Živilė Maldžienė, Aušra Morkūnienė, Jekaterina Byčkova, Algirdas Utkus, Vaidutis Kučinskas and Eglė Preikšaitienė
    Citation: BMC Medical Genetics 2019 20:127
    Content type: Case report Published on:

  32. Although statins deteriorate glucose metabolism, their glucose-lowering effects have emerged in some situations. Here, we assessed whether these effects are a consequence of statins’ interaction with paraoxona...

    Authors: Akiko Sumi, Udai Nakamura, Masanori Iwase, Hiroki Fujii, Toshiaki Ohkuma, Hitoshi Ide, Tamaki Jodai-Kitamura, Yuji Komorita, Masahito Yoshinari, Yoichiro Hirakawa, Atsushi Hirano, Michiaki Kubo and Takanari Kitazono
    Citation: BMC Medical Genetics 2017 18:146
    Content type: Research article Published on:

  33. Despite the significant interest in β2-Adrenergic receptor (ADRB2) polymorphisms related to asthma, whether ADRB2 genetic variants are similarly associated with acute respiratory tract infections have not been st...

    Authors: Pingsheng Wu, Emma K Larkin, Sara S Reiss, Kecia N Carroll, Marshall L Summar, Patricia A Minton, Kimberly B Woodward, Zhouwen Liu, Jessica Y Islam, Tina V Hartert and Paul E Moore
    Citation: BMC Medical Genetics 2015 16:82
    Content type: Research article Published on:

  34. Coats plus syndrome is an autosomal recessive, pleiotropic, multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteo...

    Authors: Manjunath Netravathi, Renu Kumari, Saketh Kapoor, Pushkar Dakle, Manish Kumar Dwivedi, Sumitabho Deb Roy, Paritosh Pandey, Jitender Saini, Anil Ramakrishna, Devaraddi Navalli, Parthasarathy Satishchandra, Pramod Kumar Pal, Arun Kumar and Mohammed Faruq
    Citation: BMC Medical Genetics 2015 16:5
    Content type: Case report Published on:

  35. We report two novel splice region mutations in OPA1 in two unrelated families presenting with autosomal-dominant optic atrophy type 1 (ADOA1) (ADOA or Kjer type optic atrophy). Mutations in OPA1 encoding a mitoch...

    Authors: Ramona Bolognini, Christina Gerth-Kahlert, Mathias Abegg, Deborah Bartholdi, Nicolas Mathis, Veit Sturm, Sabina Gallati and André Schaller
    Citation: BMC Medical Genetics 2017 18:22
    Content type: Research article Published on:

  36. Synonymous mutations have been identified to play important roles in cancer development, although they do not modify the protein sequences. However, relatively little research has specifically delineated the f...

    Authors: Yannan Bin, Xiaojuan Wang, Le Zhao, Pengbo Wen and Junfeng Xia
    Citation: BMC Medical Genetics 2019 20(Suppl 2):190
    Content type: Research Published on:

    This article is part of a Supplement: Volume 20 Supplement 2

  37. MicroRNAs (miRNAs) are important small non-coding RNA molecules that regulate gene expression in cellular processes related to the pathogenesis of cancer. Genetic variation in miRNA genes could impact their sy...

    Authors: Diego Chacon-Cortes, Robert A. Smith, Larisa M. Haupt, Rodney A. Lea, Philippa H. Youl and Lyn R. Griffiths
    Citation: BMC Medical Genetics 2015 16:107
    Content type: Research article Published on:

  38. Individuals with δβ-thalassemia/HPFH and β-thalassemia usually present with intermedia or thalassemia major. No large-scale survey on HPFH/δβ-thalassemia in southern China has been reported to date. The purpos...

    Authors: Fan Jiang, Liandong Zuo, Dongzhi Li, Jian Li, Xuewei Tang, Guilan Chen, Jianying Zhou, Hang Lu and Can Liao
    Citation: BMC Medical Genetics 2020 21:43
    Content type: Research article Published on:

  39. Multiple genetic variants have been reliably associated with obesity-related traits in Europeans, but little is known about their associations and interactions with lifestyle factors in South Asians.

    Authors: Shafqat Ahmad, Wei Zhao, Frida Renström, Asif Rasheed, Maria Samuel, Mozzam Zaidi, Nabi Shah, Nadeem Hayyat Mallick, Khan Shah Zaman, Mohammad Ishaq, Syed Zahed Rasheed, Fazal-ur-Rheman Memon, Bashir Hanif, Muhammad Shakir Lakhani, Faisal Ahmed, Shahana Urooj Kazmi…
    Citation: BMC Medical Genetics 2015 16:114
    Content type: Research article Published on:

  40. Mutations in the genes encoding leptin (LEP), the leptin receptor (LEPR), and the melanocortin 4 receptor (MC4R) are known to cause severe early-onset childhood obesity. The aim of the current study was to examin...

    Authors: Robina Khan Niazi, Anette P Gjesing, Mette Hollensted, Christian Theil Have, Niels Grarup, Oluf Pedersen, Asmat Ullah, Gulbin Shahid, Wasim Ahmad, Asma Gul and Torben Hansen
    Citation: BMC Medical Genetics 2018 19:199
    Content type: Research article Published on:

  41. The genetics of fetal insulin release and/or action have been suggested to affect fetal growth, adult insulin resistance and adult body composition. The genetic correlation between body composition at birth ve...

    Authors: Mette Hollensted, Claus T. Ekstrøm, Oluf Pedersen, Hans Eiberg, Torben Hansen and Anette Prior Gjesing
    Citation: BMC Medical Genetics 2018 19:207
    Content type: Research article Published on:

  42. The gene PPARGC1A, in particular the Gly482Ser variant (rs8192678), had been proposed to be subject to natural selection, particularly in recent progenitors of extant Polynesian populations. Reasons include high ...

    Authors: Murray Cadzow, Tony R. Merriman, James Boocock, Nicola Dalbeth, Lisa K. Stamp, Michael A. Black, Peter M. Visscher and Phillip L. Wilcox
    Citation: BMC Medical Genetics 2016 17:80
    Content type: Research article Published on:

  43. Childhood obesity is a highly heritable disorder, for which the underlying genetic architecture is largely unknown. Four common variants involved in inflammatory-adipokine triggering (IL6 rs2069845, LEPR rs113710...

    Authors: Mette Hollensted, Tarunveer S Ahluwalia, Christian Theil Have, Niels Grarup, Cilius Esmann Fonvig, Tenna Ruest Haarmark Nielsen, Cæcilie Trier, Lavinia Paternoster, Oluf Pedersen, Jens-Christian Holm, Thorkild I A Sørensen and Torben Hansen
    Citation: BMC Medical Genetics 2015 16:105
    Content type: Research article Published on:

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