Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature-Reference-Cited by-同舟云学术

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Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature

Published:2006-02-23 Issue:6 Volume:21 Page:1477-1483
ISSN:1460-2350
Container-title:Human Reproduction
language:en
Short-container-title:

Author:

Rizzolio Flavio,Bione Silvia,Sala Cinzia,Goegan Mara,Gentile Mattia,Gregato Giuliana,Rossi Elena,Pramparo Tiziano,Zuffardi Orsetta,Toniolo Daniela

Publisher

Oxford University Press (OUP)

Subject

Obstetrics and Gynaecology,Rehabilitation,Reproductive Medicine

Link

http://academic.oup.com/humrep/article-pdf/21/6/1477/2149449/dei495.pdf

Reference34 articles.

1. Aittomaki K , Lucena JL, Pakarinen P, Sistonen P, Tapanainen J, Gromoll J, Kaskikari R, Sankila EM, Lehvaslaiho H, Engel AR et al. (1995) Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Cell82,959–968.

2. Bione S , Rizzolio F, Sala C, Ricotti R, Goegan M, Manzini MC, Battaglia R, Marozzi A, Vegetti W, Dalpra L, Crosignani PG, Ginelli E, Nappi R, Bernabini S, Bruni V, Torricelli F, Zuffardi O and Toniolo D (2004) Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B. Hum Reprod19,2759–2766.

3. Bione S , Sala C, Manzini C, Arrigo G, Zuffardi O, Banfi S, Borsani G, Jonveaux P, Philippe C, Zuccotti M, Ballabio A and Toniolo D (1998) A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility. Am J Hum Genet62,533–541.

4. van Bokhoven H , van den Hurk JA, Bogerd L, Philippe C, Gilgenkrantz S, de Jong P, Ropers HH and Cremers FP (1994) Cloning and characterization of the human choroideremia gene. Hum Mol Genet3,1041–1046.

5. Burgoyne PS and Baker TG (1984) Meiotic pairing and gametogenic failure. Symp Soc Exp Biol38,349–362.

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1. X chromosome rearrangement associated with premature ovarian insufficiency as diagnosed by molecular cytogenetic methods: a case report and review of the literature;Molecular Cytogenetics;2024-04-03

2. Improving diagnostic precision in primary ovarian insufficiency using comprehensive genetic and autoantibody testing;Human Reproduction;2023-11-09

3. X Chromosome Rearrangement Associated with Premature Ovarian Insufficiency as Diagnosed by Molecular Cytogenetic Methods: A Case Reportand review of the literature;2023-08-21

4. Premature ovarian insufficiency is associated with global alterations in the regulatory landscape and gene expression in balanced X-autosome translocations;Epigenetics & Chromatin;2023-05-19

5. Genotype-phenotype correlations of pathogenic copy number variations on X chromosome detected by comparative genomic hybridization;Human Gene;2022-09

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