Last Posted: Feb 02, 2017
- A 15-year-long Southern blotting analysis of FMR1 to detect female carriers and for prenatal diagnosis of fragile X syndrome in Taiwan.
Tzeng Ching-Cherng et al. Clinical genetics 2017 Jan - Molecular screening of intellectually disabled patients and those with premature ovarian failure for CGG repeat expansion at FMR1 locus: Implication of combined triplet repeat primed polymerase chain reaction and methylation-specific polymerase chain reaction analysis.
Muthuswamy Srinivasan et al. Neurology India 64(6) 1175-1179 - A Pilot Study of Fragile X Syndrome Screening in Pregnant Women and Women Planning Pregnancy: Implementation, Acceptance, Awareness, and Geographic Factors.
Alfaro Arenas Ramona et al. Journal of genetic counseling 2016 Oct - Importance of a specialty clinic for individuals with fragile X syndrome.
Visootsak Jeannie et al. American journal of medical genetics. Part A 2016 Sep - Joint SOGC-CCMG Opinion for Reproductive Genetic Carrier Screening: An Update for All Canadian Providers of Maternity and Reproductive Healthcare in the Era of Direct-to-Consumer Testing.
Wilson R Douglas et al. Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obste´trique et gyne´cologie du Canada : JOGC 2016 Aug 38(8) 742-762.e3 - The fragile X mental retardation 1 gene (FMR1): historical perspective, phenotypes, mechanism, pathology, and epidemiology.
Grigsby Jim et al. The Clinical neuropsychologist 2016 Aug 30(6) 815-33 - CDC and AAP Bust Fragile X Myths
- ETHICAL AND GENETIC ASPECTS REGARDING PRESYMPTOMATIC TESTING FOR NEURODEGENERATIVE DISEASES.
Rev Med Chir Soc Med Nat Iasi. 2016 Jan-Mar;120(1):15-22. - Screening for fragile X syndrome in males from specialized institutions in the northeast region of Brazil.
Viveiros M T M et al. Genetics and molecular research : GMR 2015 14(2) 6897-905 - Survey of medical genetic services in Italy: year 2011.
Giardino Daniela et al. BMC health services research 2016 16(1) 96 - Family Communication and Cascade Testing for Fragile X Syndrome.
Raspa Melissa et al. Journal of genetic counseling 2016 Mar - Clinical audit of genetic testing and referral patterns for fragile X and associated conditions.
Cotter Megan et al. American journal of medical genetics. Part A 2016 Feb - "It gives them more options": preferences for preconception genetic carrier screening for fragile X syndrome in primary healthcare.
Archibald Alison D et al. Journal of community genetics 2016 Feb - Validation of a Commercially Available Screening Tool for the Rapid Identification of CGG Trinucleotide Repeat Expansions in FMR1.
Lim Grace X Y et al. The Journal of molecular diagnostics : JMD 2015 May 17(3) 302-14 - A Sister, a Father and a Son: Autism, Genetic Testing, and Impossible Decisions.
et al. Narrative inquiry in bioethics 2015 5(3) 226-8 - Cascade Screening for Fragile X Syndrome/CGG Repeat Expansions in Children Attending Special Education in Sri Lanka.
Chandrasekara C H W M R Bhagya et al. PloS one 2015 10(12) e0145537
No hay comentarios:
Publicar un comentario