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Genetics

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  1. Content type: Short Report

    Cell-free RNA (cfRNA) transcripts known to be expressed by the fetal brain are detectable by quantitative reverse transcription PCR (RT-qPCR) in amniotic fluid and represent potential biomarkers of neurodevelo...

    Authors: Lisa Hui, Stephen Tong, Tu’Uhevaha J. Kaitu’u-Lino and Natalie J. Hannan

    Citation: BMC Research Notes 2016 9:335

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  2. Content type: Research article

    Recessive mutations in PLA2G6 have been associated with different neurodegenerative disorders, including infantile neuroaxonal dystrophy, neurodegeneration with brain iron accumulation and more recently, early-on...

    Authors: Saeed A. Bohlega, Bashayer R. Al-Mubarak, Eman A. Alyemni, Mohamed Abouelhoda, Dorota Monies, Abeer E. Mustafa, Dania S. Khalil, Sara Al Haibi, Hussam Abou Al-Shaar, Tariq Faquih, Mohamed El-Kalioby, Asma I. Tahir and Nada A. Al Tassan

    Citation: BMC Research Notes 2016 9:295

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  3. Content type: Research article

    The virulence and pathogenicity of different influenza strains are responsible for a more or less severe disease. Recent studies have attempted to understand how host genetic factors may influence the clinical...

    Authors: Alvino Maestri, Vinicius Albuquerque Sortica, Deimy Lima Ferreira, Jessylene de Almeida Ferreira, Marcos Antônio Trindade Amador, Wyller Alencar de Mello, Sidney Emanuel Batista Santos and Rita Catarina Medeiros Sousa

    Citation: BMC Research Notes 2016 9:296

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  4. Content type: Short Report

    The sheepshead (Archosargus probatocephalus) is found in nearshore waters from Nova Scotia, Canada, to Rio Grande do Sul, Brazil. In the southeastern United States two subspecies are recognized based on a number ...

    Authors: Seifu Seyoum, Cecilia Puchutulegui and Richard S. McBride

    Citation: BMC Research Notes 2016 9:251

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  5. Content type: Correspondence

    Anti-Müllerian hormone (amh) or Müllerian-inhibiting substance (mis) is a member of the transforming growth factor-β family of hormones. This gene plays a key role in vertebrate male sex-determination by inhibiti...

    Authors: Eric B. Rondeau, Cassandra V. Laurie, Stewart C. Johnson and Ben F. Koop

    Citation: BMC Research Notes 2016 9:230

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  6. Content type: Research article

    The inflammatory response plays a key role at different stages of cancer development. Allelic variants of the interleukin 1A (IL1A), interleukin 4 (IL4), nuclear factor kappa B1 (NFKB1) and protease-activated re...

    Authors: Marcos A. T. Amador, Giovanna C. Cavalcante, Ney P. C. Santos, Leonor Gusmão, João F. Guerreiro, Ândrea Ribeiro-dos-Santos and Sidney Santos

    Citation: BMC Research Notes 2016 9:101

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  7. Content type: Case Report

    Cataract is a major cause of childhood blindness worldwide. The purpose of this study was to determine the genetic cause of paediatric cataract in a South Australian family with a bilateral lamellar paediatric...

    Authors: Shari Javadiyan, Jamie E. Craig, Emmanuelle Souzeau, Shiwani Sharma, Karen M. Lower, John Pater, Theresa Casey, Trevor Hodson and Kathryn P. Burdon

    Citation: BMC Research Notes 2016 9:83

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  8. Content type: Research Article

    Stagonospora nodorum blotch (SNB), Fusarium head blight (FHB) and stem rust (SR), caused by the fungi Parastagonospora (synonym Stagonospora) nodorum, Fusarium graminearum and Puccinia...

    Authors: Rima Thapa, Gina Brown-Guedira, Herbert W. Ohm, Maria Mateos-Hernandez, Kiersten A. Wise and Stephen B. Goodwin

    Citation: BMC Research Notes 2016 9:58

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  9. Content type: Case Report

    Osteopetrosis is a rare inherited metabolic bone disorder characterized by extensive sclerosis of skeletons, visual and hearing impairment, hepatosplenomegaly and anemia. It has two major clinical forms: the a...

    Authors: Satish Yadav, Shiv Chalise, Shipra Chaudhary, Gauri Shankar Shah, Mukesh Kumar Gupta and Om Prakash Mishra

    Citation: BMC Research Notes 2016 9:55

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  10. Content type: Research article

    The expression of lactase which digests lactose from milk in humans is generally lost after weaning, but selected mutations influencing the promoter of the lactase gene have spread into the human populations. ...

    Authors: Hisham Y. Hassan, Anke van Erp, Martin Jaeger, Hanan Tahir, Marije Oosting, Leo A. B. Joosten and Mihai G. Netea

    Citation: BMC Research Notes 2016 9:8

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  11. Content type: Case Report

    Orofacial cleft (OFC) is one of the most common congenital malformations with a global incidence of approximately 1/700 live births. Clinically, OFCs can be syndromic or non-syndromic.

    Authors: Saadia Amasdl, Abdelhafid Natiq, Aziza Sbiti, Maria Zerkaoui, Jaber Lyahyai, Saaid Amzazi, Thomas Liehr and Abdelaziz Sefiani

    Citation: BMC Research Notes 2016 9:5

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  12. Content type: Research article

    Leaf chicory (Cichorium intybus subsp. intybus var. foliosum L.) is a diploid plant species (2n = 18) of the Asteraceae family. The term “chicory” specifies at least two types of cultivated plants: a leafy vegeta...

    Authors: Andrea Ghedina, Giulio Galla, Thierry Cadalen, Jean-Louis Hilbert, Silvano Tiozzo Caenazzo and Gianni Barcaccia

    Citation: BMC Research Notes 2015 8:831

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  13. Content type: Short Report

    Hyacinth macaw Anodorhynchus hyacinthinus is the largest parrot of the world and is considered vulnerable to extinction due to its habitat loss and illegal trade associated to the international pet market demand....

    Authors: Helder E. da Silva, Flavia T. Presti, Adriane P. Wasko and Danillo Pinhal

    Citation: BMC Research Notes 2015 8:736

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  14. Content type: Short Report

    Although the highest diversity of birds occurs in tropical regions, little is known about the genetic mating systems of most tropical species. We describe microsatellite markers isolated in the chestnut-creste...

    Authors: Sara A. Kaiser, J. E. Danner, Laura Bergner and Robert C. Fleischer

    Citation: BMC Research Notes 2015 8:707

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  15. Content type: Research article

    The exacerbation of HIV-1 associated dyslipidemia seen in a subset of patients receiving anti-retroviral therapy suggests that genetic factors put these individuals at greater risk of cardiovascular disease. S...

    Authors: Rebecca B. Marino, Lawrence A. Kingsley, Shehnaz K. Hussain, Jay H. Bream, Sudhir Penogonda, Priya Duggal and Jeremy J. Martinson

    Citation: BMC Research Notes 2015 8:697

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  16. Content type: Research article

    Auditory and vestibular disorders are prevalent sensory disabilities caused by genetic and environmental (noise, trauma, chemicals) factors that often damage mechanosensory hair cells of the inner ear. Develop...

    Authors: Daniel Ramírez-Gordillo, TuShun R. Powers, Jennifer C. van Velkinburgh, Casilda Trujillo-Provencio, Faye Schilkey and Elba E. Serrano

    Citation: BMC Research Notes 2015 8:691

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  17. Content type: Short Report

    Boiga irregularis is a widespread invasive species on Guam and has led to extirpation of most of the island’s native avifauna. There are presently no microsatellite markers for this in...

    Authors: Shem D. Unger, Erin F. Abernethy, Stacey L. Lance, Rochelle R. Beasley, Bruce A. Kimball, Thomas W. McAuliffe, Kenneth L. Jones and Olin E. Rhodes Jr.

    Citation: BMC Research Notes 2015 8:658

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