Information de reference pour ce titreAccession Number: | 01445494-201904000-00010.
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Author: | Bacrot, Severine *,1; Monnot, Sophie 1; Haddad, Georges 2; Barcia, Giulia 1; Rachid, Myriam 1; Boisson, Marie 1; Pasquier, Nathalie 3; Rondeau, Sophie 1; Munnich, Arnold 1; Steffann, Julie 1; Bonnefont, Jean-Paul 1; Raynaud, Martine 3
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Institution: | (1) Universite Paris Descartes - Sorbonne Paris Cite, Institut Imagine UMR1163, Federation de Genetique medicale, Hopital universitaire Necker-Enfants Malades, AP-HP Paris France (2) Service de gynecologie obstetrique, Centre hospitalier de Blois Blois France (3) Service de Genetique, CHRU de Tours, UMR 1253, iBrain, Universite de Tours, Inserm Tours France
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Source: | Prenatal Diagnosis. 39(5):388-393, April 2019.
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References: | 1. Bailey DB Jr, Berry-Kravis E, Gane LW, et al. Fragile X newborn screening: lessons learned from a multisite screening study. Pediatrics. 2017;139(Suppl 3):S216-S225. https://doi.org/10.1542/peds.201...- ouverture dans une nouvelle fenêtre
2. Verkerk AJ, Pieretti M, Sutcliffe JS, et al. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell. 1991;31;65(5):905-914.
3. Yu S, Pritchard M, Kremer E, et al. Fragile X genotype characterized by an unstable region of DNA. Science. 1991;24;252(5009):1179-1181.
4. Sullivan AK, Marcus M, Epstein MP, et al. Association of FMR1 repeat size with ovarian dysfunction. Hum Reprod. 2005;Feb;20(2):402-412.
5. Jacquemont S, Hagerman RJ, Leehey M, et al. Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates. Am J Hum Genet. 2003;Apr72;72(4):869-878.
6. Nolin SL, Brown WT, Glicksman A, et al. Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. Am J Hum Genet. 2003;72(2):454-464.
7. Nolin SL, Glicksman A, Ding X, et al. Fragile X analysis of 1112 prenatal samples from 1991 to 2010. Prenat Diagn. 2011;Oct;31(10):925-931. https://doi.org/10.1002/pd.2815- ouverture dans une nouvelle fenêtre-.
8. Nolin SL, Glicksman A, Ersalesi N, et al. Fragile X full mutation expansions are inhibited by one or more AGG interruptions in premutation carriers. Genet Med. 2015;May;17(5):358-364.
9. Manor E, Jabareen A, Magal N, Kofman A, Hagerman RJ, Tassone F. Prenatal diagnosis of fragile X: can a full mutation allele in the FMR1 gene contract to a normal size? Front Genet. 2017;Nov 3;8:158. https://doi.org/10.3389/fgene.20...- ouverture dans une nouvelle fenêtre
10. Tabolacci E, Pomponi MG, Pietrobono R, Chiurazzi P, Neri G. A unique case of reversion to normal size of a maternal premutation FMR1 allele in a normal boy. Eur J Hum Genet. 2008;Feb;16(2):209-214.
11. Prawer Y, Hunter M, Cronin S, et al. Prenatal diagnosis of fragile X syndrome in a twin pregnancy complicated by a complete retraction. Genes (Basel). 2018;Jun; 7;9(6):pii: E287. https://doi.org/10.3390/genes906...- ouverture dans une nouvelle fenêtre
12. Losekoot M, Hoogendoorn E, Olmer R, et al. Prenatal diagnosis of the fragile X syndrome: loss of mutation owing to a double recombinant or gene conversion event at the FMR1 locus. J Med Genet. 1997;Nov;34(11):924-926.
13. Van den Ouweland AM, Deelen WH, Kunst CB, et al. Loss of mutation at the FMR1 locus through multiple exchanges between maternal X chromosomes. Hum Mol Genet. 1994;Oct;3(10):1823-1827.
14. Biancalana V, Glaeser D, McQuaid S, Steinbach P. EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders. Eur J Hum Genet. 2015;23(4):417-425.
15. Chen L, Hadd A, Sah S, et al. An information-rich CGG repeat primed PCR that detects the full range of fragile X expanded alleles and minimizes the need for Southern blot analysis. J Mol Diagn. 2010;Sep;12(5):589-600. https://doi.org/10.2353/jmoldx.2...- ouverture dans une nouvelle fenêtre
16. Yrigollen CM, Martorell L, Durbin-Johnson B, et al. AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission. J Neurodev Disord. 2014;6(1):24.
17. Mezard C, Jahns MT, Grelon M. Where to cross? New insights into the location of meiotic crossovers. Trends Genet. 2015;Jul;31(7):393-401. https://doi.org/10.1016/j.tig.20...- ouverture dans une nouvelle fenêtre
18. Ferreira SI, Pires LM, Ferrao J, Sa J, Serra A, Carreira IM. Mosaicism for FMR1 gene full mutation and intermediate allele in a female foetus: a postzygotic retraction event. Gene. 2013;Sep15;527(1):421-425. https://doi.org/10.1016/j.gene.2...- ouverture dans une nouvelle fenêtre
19. Stark Z, Francis D, Gaffney L, et al. Prenatal diagnosis of fragile X syndrome complicated by full mutation retraction. Am J Med Genet A. 2015; Oct;167A(10):2485-2487. https://doi.org/10.1002/ajmg.a.3...- ouverture dans une nouvelle fenêtre
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Language: | English.
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Document Type: | ORIGINAL ARTICLES.
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Journal Subset: | Life & Biomedical Sciences. Science.
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ISSN: | 0197-3851
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DOI Number: | https://dx.doi.org/10.1002/pd.54...- ouverture dans une nouvelle fenêtre
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