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Genetics

  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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  18. Content type: Research article

    The mitochondrial DNA (mtDNA) control region is extensively used in the phylogeography of species. We examined sequence variations in the mtDNA control region of sambar (Rusa unicolor) populations from the South,...

    Authors: Sandeep Kumar Gupta, Ajit Kumar, Ajay Gaur and Syed Ainul Hussain

    Citation: BMC Research Notes 2015 8:581

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  19. Content type: Research article

    Considerable progress has been made in illuminating the pathological events for systemic sclerosis (SSc)-related progressive lung fibrosis. The molecular events that lead to SSc-related progressive lung fibros...

    Authors: Yan Jiao, Hong Chen, Tianshu Gu, Lishi Wang, Arnold Postlethwaite and Weikuan Gu

    Citation: BMC Research Notes 2015 8:544

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  20. Content type: Research article

    Hop is an economically important crop for the Pacific Northwest USA as well as other regions of the world. It is a perennial crop with rhizomatous or clonal propagation system for varietal distribution. A big ...

    Authors: John A. Henning, Jamie Coggins and Matthew Peterson

    Citation: BMC Research Notes 2015 8:542

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  21. Content type: Research article

    The macauba has been identified as the most promising native species for the production of vegetable oil and biomass. Several studies confirm its potential for numerous purposes (liquid and solid biofuels, fo...

    Authors: Léo Duc Haa Carson Schwartzhaupt da Conceição, Rosemar Antoniassi, Nilton Tadeu Vilela Junqueira, Marcelo Fideles Braga, Adelia Ferreira de Faria-Machado, Joice Barbosa Rogério, Iara Duprat Duarte and Humberto Ribeiro Bizzo

    Citation: BMC Research Notes 2015 8:406

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  22. Content type: Short Report

    The smooth marron, Cherax cainii is an important freshwater crustacean species for aquaculture and for a local wild fishery. C. tenuimanus, commonly known as the hairy marron is under threat from environmental im...

    Authors: Shannon R. Loughnan, Luciano B. Beheregaray and Nicholas A. Robinson

    Citation: BMC Research Notes 2015 8:370

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  23. Content type: Research article

    Percent mammographic density (PD) estimates the proportion of stromal, fat, and epithelial breast tissues on the mammogram image. Adjusted for age and body mass index (BMI), PD is one of the strongest risk fac...

    Authors: Elizabeth J Atkinson, Jeanette E Eckel-Passow, Alice Wang, Alexandra J Greenberg, Christopher G Scott, V Shane Pankratz, Kristen N Purrington, Thomas A Sellers, David N Rider, John A Heit, Mariza de Andrade, Julie M Cunningham, Fergus J Couch and Celine M Vachon

    Citation: BMC Research Notes 2015 8:297

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  24. Content type: Short Report

    Hereditary spastic paraplegias (HSP), a group of genetically heterogeneous neurological disorders with more than 56 documented loci (SPG1-56), are described either as uncomplicated (or pure), or complicated wh...

    Authors: Nuha Alrayes, Hussein Sheikh Ali Mohamoud, Musharraf Jelani, Saleem Ahmad, Nirmal Vadgama, Khadijah Bakur, Michael Simpson, Jumana Yousuf Al-Aama and Jamal Nasir

    Citation: BMC Research Notes 2015 8:271

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  25. Content type: Short Report

    Tetranychus urticae is a highly polyphagous species with a cosmopolitan distribution that has the status of pest in more than 100 economically significant crops all over the world. Despite a nu...

    Authors: Laure Sauné, Philippe Auger, Alain Migeon, Jean-Emmanuel Longueville, Simon Fellous and Maria Navajas

    Citation: BMC Research Notes 2015 8:247

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  26. Content type: Short Report

    Indigenous rice varieties in the Eastern Himalayan region of Northeast India are traditionally classified into sali, boro and jum ecotypes based on geographical locality and the season of cultivation. In this stu...

    Authors: Baharul I Choudhury, Mohammed L Khan and Selvadurai Dayanandan

    Citation: BMC Research Notes 2014 7:953

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  27. Content type: Research article

    The genetic composition of the bacterium causing whooping cough, Bordetella pertussis, has been investigated using microarray studies in order to examine potential genetic contributors to the disease re-emergence...

    Authors: Connie Lam, Sophie Octavia, Vitali Sintchenko, Gwendolyn L Gilbert and Ruiting Lan

    Citation: BMC Research Notes 2014 7:727

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  28. Content type: Short Report

    The green sea urchin Strongylocentrotus droebachiensis has a wide circumpolar distribution and plays a key role in coastal ecosystems worldwide by destructively grazing macroalgae beds and turn them into marine d...

    Authors: Marc B Anglès d’Auriac, Anders Hobæk, Hartvig Christie, Hege Gundersen, Camilla With Fagerli, Johannes Haugstetter and Kjell Magnus Norderhaug

    Citation: BMC Research Notes 2014 7:699

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