Fragile X syndrome in Ricaurte, Colombia

Wilmar Saldarriaga Gil

doi:10.25100/peu.149

Fragile X syndrome in Ricaurte, Colombia

https://doi.org/10.25100/peu.149

Autores

Wilmar Saldarriaga Gil Universidad del Valle

Resumen

Estadísticas

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Biografía del Autor

Wilmar Saldarriaga Gil, Universidad del Valle

Born in Cali in 1974. Professor of the Department of Morphology, and Department of Gynecology and Obstetrics of the Universidad del Valle; of which he graduated as a doctor and surgeon, and which he represented as a student in research congresses, obtaining several awards, the most impor-tant being the "XI Aventis-National Academy of Medicine Award" (2000) for the best research work in the area clinic. Is an obstetrician-gynecologist and holds a Master's degree in Basic Medical Sciences with Emphasis in Embryo-logy and Genetics from Universidad del Valle. In the "V World Congress of Perinatology and XXVI Colombian Congress of Obstetrics and Gynecology" (Cartagena, 2008), it obtained the first place in the category of free works of research in perinatology. And prize for the best research work in the National Congresses of Obstetrics and Gynecology, in the years 2010 and 2016.Director of the research group on Perinatal Congenital Malformations, Dysmorphology and Medical Genetics, MACOS, from Universidad del Va-lle, category A of Colciencias. It has 80 publications in indexed journals, including: Colombia Médica, Colombian Journal of Obstetrics and Gyneco-logy, British Medical Journal Case Report, Birth Defects, American Journal of Obstetrics & Gynecology, NeuroToxicology, Journal of Human Genetics. Author of the books Fundamentals of Obstetrics and Gynecology and Inte-grated Human Embryology. In 2014, he received the "Best Medical Educa-tor of Colombia" prize in the "Young Educator" category from Ascofame. In October 2017 he received his PhD in Biomedical Sciences with an emphasis in Medical Genetics from the Universidad del Valle, his thesis received me-ritorious mention, during the last year of the doctorate he did training at the MIND Institute of the University of California at Davis.

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Chapter 7

Saldarriaga W, Tassone F, Gonzalez-Teshima LY, Forero-Forero JV, Ayala-Zapata S, Hagerman R. Fragile X syndrome. Colomb Med. 2014;45(4):190-8.

https://doi.org/10.25100/cm.v45i4.1810

Tolmie J. The molecular Biology. En: Hagerman RJ, Hagerman PJ, editores. Fragile X Syndrome: Diagnosis, Treatment, and Research. 3ra.ed. Baltimore: The Johns Hopkins University Press. 2002. p. 110-135.

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https://doi.org/10.1007/978-3-319-33898-9_13

Yrigollen CM, Martorell L, Durbin-Johnson B, Naudo M, Genoves J, Murgia A, et al. AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission. J Neurodev Disord [Internet]. 2014 dic 30 [consulta 2017 mar 8];6(1):24. doi: 10.1186/1866-1955-6-24

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https://doi.org/10.1371/journal.pgen.1001240

Chapter 8

Poletta FA, Orioli IM, Castilla EE. Genealogical data in population medical genetics: Field guidelines. Genet Mol Biol. 2014;37(1):171-85.

https://doi.org/10.1590/S1415-47572014000200004

L S-F, E C. From rumors to genetic isolates. Genet Mol Biol. 2014;37(1):186-93.

https://doi.org/10.1590/S1415-47572014000200005

Hunter J, Rivero-arias O, Angelov A, Kim E, Fotheringham I, Leal J, et al. Epidemiology of Fragile X Syndrome : A Systematic Review and Meta-Analysis. 2014;1648-58.

https://doi.org/10.1002/ajmg.a.36511

Tassone F, Iong KP, Tong T-H, Lo J, Gane LW, Berry-Kravis E, et al. FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States. Genome Med. 2012;4(12):100.

https://doi.org/10.1186/gm401

Coffee B, Keith K, Albizua I, Malone T, Mowrey J, Sherman SL, et al. Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA. Am J Hum Genet. 2009;85(4):503-14.

https://doi.org/10.1016/j.ajhg.2009.09.007

Crawford DC, Meadows KL, Newman JL, Taft LF, Scott E, Leslie M, et al. Prevalence of the fragile X syndrome in African-Americans. Am J Med Genet. 2002 Jul;110(3):226-33.

https://doi.org/10.1002/ajmg.10427

Song F, Barton P, Sleightholme V, Yao G, Fry-Smith A. Screening for fragile X syndrome: a literature review and modelling study HTA Health Technology Assessment NHS R&D HTA Programme Executive summary Screening for fragile X syndrome. Health Technol Assess (Rockv). 2003;7(16).

https://doi.org/10.3310/hta7160

Pesso R, Berkenstadt M, Cuckle H, Gak E, Peleg L, Frydman M, et al. Screening for fragile X syndrome in women of reproductive age. Prenat Diagn. 2000 Aug;20(8):611-4.

https://doi.org/10.1002/1097-0223(200008)20:8<611::AID-PD881>3.0.CO;2-M

Hunter J, Rivero-Arias O, Angelov A, Kim E, Fotheringham I, Leal J. Epidemiology of fragile X syndrome: a systematic review and meta-analysis. Am J Med Genet A. 2014 Jul;164A(7):1648-58.

https://doi.org/10.1002/ajmg.a.36511

O'Byrne JJ, Sweeney M, Donnelly DE, Lambert DM, Beattie ED, Gervin CM, et al. Incidence of Fragile X syndrome in Ireland. Am J Med Genet A. 2017 Mar;173(3):678-83.

https://doi.org/10.1002/ajmg.a.38081

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Carátula libro Fragile X syndrome in Ricaurte, Colombia

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2018-11-01

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Fragile X syndrome in Ricaurte, Colombia

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