Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature. (Articolo in rivista)

Type

• Articolo in rivista (Classe)
• Prodotto della ricerca (Classe)

Label

• Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature. (Articolo in rivista) (literal)

Anno

• 2006-01-01T00:00:00+01:00 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi

• 10.1093/humrep/dem255 (literal)

Alternative label

• Rizzolio F; Bione S; Sala C; Goegan M; Gentile M; Gregato G; Rossi E; Pramparo T; Zuffardi O; Toniolo D. (2006)
  Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature.
  in Human reproduction (Oxf., Print); Oxford University Press, Oxford (Regno Unito)
  (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

• Rizzolio F; Bione S; Sala C; Goegan M; Gentile M; Gregato G; Rossi E; Pramparo T; Zuffardi O; Toniolo D. (literal)

Pagina inizio

• 1477 (literal)

Pagina fine

• 1483 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#altreInformazioni

• Original contribution; not a review (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#url

• http://humrep.oxfordjournals.org/content/21/6/1477.long (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume

• 21 (literal)

Rivista

• Human reproduction (Rivista)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#note

• REVIEW (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#pagineTotali

• 7 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo

• 6 (literal)

Note

• PubMe (literal)
• Scopu (literal)
• ISI Web of Science (WOS) (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni

• DIBIT, San Raffaele Scientific Institute, Milano, Italy; Institute of Molecular Genetics, CNR, Pavia, Italy; Department of Medical Genetics, I.R.C.C.S. Saverio de Bellis, Castellana Grotte (Bari), Italy; Department of Pathology and Medical Genetics, University of Pavia, Pavia, Italy (literal)

Titolo

• Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature. (literal)

Abstract

• BACKGROUND: Chromosomal rearrangements in Xq are frequently associated with premature ovarian failure (POF) and have defined a POF 'critical region'. Search for genes responsible for the disorder has been elusive. METHODS: We report mapping of novel breakpoints of X;autosome-balanced translocations and interstitial deletions and a review of published X chromosome rearrangements. RESULTS: All the novel POF-associated rearrangements were mapped outside and often very distant from genes. The majority mapped to a gene-poor region in Xq21. In the same region, deletions were reported in women who apparently did not have problems conceiving. Expression analysis of genes flanking breakpoints clustered in a 2-Mb region of Xq21 failed to demonstrate ovary-specific genes. CONCLUSIONS: Our results excluded most of the possible explanations for the POF phenotype and suggested that POF should be ascribed to a position effect of the breakpoints on flanking genes. We also showed that while the X breakpoint may affect X-linked genes in the distal part of Xq, from Xq23 to Xq28, interruption of the critical region in Xq21 could be explained by a position effect of the Xq critical region on genes flanking the autosomal breakpoints. (literal)

Editore

• Oxford University Press (Editore)

Prodotto di

• Institute of molecular genetics (IGM) (Istituto)
• Malattie genetiche dovute a difetti nella riparazione del DNA che predispongono ai tumori. Analisi genetica funzionale dei fattori importanti per l'integrità del genoma. (ME.P05.005.001) (Modulo)

Autore CNR

• SILVIA BIONE (Unità di personale interno)
• DANIELA TONIOLO (Unità di personale interno)

Insieme di parole chiave

• Parole chiave di "Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature." (Insieme di parole chiave)

Incoming links:

Prodotto

• Institute of molecular genetics (IGM) (Istituto)
• Malattie genetiche dovute a difetti nella riparazione del DNA che predispongono ai tumori. Analisi genetica funzionale dei fattori importanti per l'integrità del genoma. (ME.P05.005.001) (Modulo)

Autore CNR di

• SILVIA BIONE (Unità di personale interno)
• DANIELA TONIOLO (Unità di personale interno)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#rivistaDi

• Human reproduction (Rivista)

Editore di

• Oxford University Press (Editore)

Insieme di parole chiave di

• Parole chiave di "Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature." (Insieme di parole chiave)