Ovarian dysfunction and FMR1 alleles in a large Italian family with POF and FRAXA disorders: case report

作者: Maria Giuseppina Miano , Carmela Laperuta , Pietro Chiurazzi , Michele D'Urso , Matilde Valeria Ursini

DOI: 10.1186/1471-2350-8-18

关键词:

摘要: Background The association between premature ovarian failure (POF) and the FMR1 repeat number (41> CGGn< 200) has been widely investigated. Current findings suggest that risk estimation for POF can be calculated in offspring of women with pre-mutated alleles.

参考文章(22)
Noriko Abe, Hiroyuki Takeuchi, Iwaho Kikuchi, Katsuyuki Kinoshita, Effectiveness of microlaparoscopy in the diagnosis of premature ovarian failure Journal of Obstetrics and Gynaecology Research. ,vol. 32, pp. 224- 229 ,(2006) , 10.1111/J.1447-0756.2006.00375.X
G.R. Sutherland, Rare fragile sites Cytogenetic and Genome Research. ,vol. 100, pp. 77- 84 ,(2003) , 10.1159/000072840
Amy K. Sullivan, Dana C. Crawford, Elizabeth H. Scott, Mary L. Leslie, Stephanie L. Sherman, Paternally Transmitted FMR1 Alleles Are Less Stable than Maternally Transmitted Alleles in the Common and Intermediate Size Range American Journal of Human Genetics. ,vol. 70, pp. 1532- 1544 ,(2002) , 10.1086/340846
Elizabeth Berry-Kravis, Kristina Potanos, Dahlia Weinberg, Lili Zhou, Christopher G. Goetz, Fragile X-associated tremor/ataxia syndrome in sisters related to X-inactivation. Annals of Neurology. ,vol. 57, pp. 144- 147 ,(2005) , 10.1002/ANA.20360
S. Schmidt, U. Claussen, T. Liehr, A. Weise, Evolution versus constitution: differences in chromosomal inversion. Human Genetics. ,vol. 117, pp. 213- 219 ,(2005) , 10.1007/S00439-005-1294-Z
Hilde Van Esch, The Fragile X premutation: new insights and clinical consequences. European Journal of Medical Genetics. ,vol. 49, pp. 1- 8 ,(2006) , 10.1016/J.EJMG.2005.11.001
Alessandra Terracciano, Pietro Chiurazzi, Giovanni Neri, Fragile X syndrome American Journal of Medical Genetics Part C: Seminars in Medical Genetics. ,vol. 137C, pp. 32- 37 ,(2005) , 10.1002/AJMG.C.30062
Sarah L. Nolin, W. Ted Brown, Anne Glicksman, George E. Houck, Jr., Alice D. Gargano, Amy Sullivan, Valérie Biancalana, Karen Bröndum-Nielsen, Helle Hjalgrim, Elke Holinski-Feder, Frank Kooy, John Longshore, James Macpherson, Jean-Louis Mandel, Gert Matthijs, Francois Rousseau, Peter Steinbach, Marja-Leena Väisänen, Harriet von Koskull, Stephanie L. Sherman, Expansion of the Fragile X CGG Repeat in Females with Premutation or Intermediate Alleles American Journal of Human Genetics. ,vol. 72, pp. 454- 464 ,(2003) , 10.1086/367713
David Schlessinger, Luisa Herrera, Laura Crisponi, Steven Mumm, Antonio Percesepe, Massimo Pellegrini, Giuseppe Pilia, Antonino Forabosco, Genes and translocations involved in POF. American Journal of Medical Genetics. ,vol. 111, pp. 328- 333 ,(2002) , 10.1002/AJMG.10565
Daniela Toniolo, X-linked premature ovarian failure: a complex disease Current Opinion in Genetics & Development. ,vol. 16, pp. 293- 300 ,(2006) , 10.1016/J.GDE.2006.04.005