Carrier screening [NEW TOPIC PAGE]

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From HuGE Literature Finder Database

This database contains published literature on genetic associations and other human genome epidemiology

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• A simple, fast and inexpensive method for mutation scanning of CFTR gene.  
  BMC medical genetics 2017 May 18 (1): 58.
  Figueredo Lago Juan Emilio, Armas Cayarga Anny, González González Yaimé Josefina, Collazo Mesa Tere
• Prognostic dilemmas and genetic counseling for prenatally detected fragile X gene expansions.  
   Prenatal diagnosis 2016 Nov .
  Finucane Brenda, Lincoln Sharyn, Bailey Lindsay, Martin Christa Le
• Prevalence of common MEFV mutations and carrier frequencies in a large cohort of Iranian populations.  
  Journal of genetics 2016 Sep 95 (3): 667-74.
  Beheshtian Maryam, Izadi Nasim, Kriegshauser Gernot, Kahrizi Kimia, Mehr Elham Parsi, Rostami Maryam, Hosseini Masoumeh, Azad Maryam, Montajabiniat Mona, Kariminejad Ariana, Nemeth Stefan, Oberkanins Christian, Najmabadi Hosse
• Comprehensive population screening in the Ashkenazi Jewish population for recurrent disease-causing variants.  
   Clinical genetics 2016 Jul .
  Shi L, Webb B D, Birch A H, Elkhoury L, McCarthy J, Cai X, Oishi K, Mehta L, Diaz G A, Edelmann L, Kornreich
• Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their Outcomes.  
   Genetic testing and molecular biomarkers 2016 May .
  Gupta Deepti, Bijarnia-Mahay Sunita, Kohli Sudha, Saxena Renu, Puri Ratna Dua, Shigematsu Yosuke, Yamaguchi Seiji, Sakamoto Osamu, Gupta Neerja, Kabra Madhulika, Thakur Seema, Deb Roumi, Verma Ishwar Chand

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