de.mpg.escidoc.pubman.appbase.FacesBean
Deutsch
 
Hilfe Wegweiser Datenschutzhinweis Impressum Kontakt
  DetailsucheBrowse

Datensatz

 
 
 
 
DownloadE-Mail
  Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes and epilepsy.

Mefford, H. C., Clauin, S., Sharp, A. J., Moller, R. S., Ullmann, R., Kapur, R., et al. (2007). Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes and epilepsy. American Journal of Human Genetics: AJHG, 81(5), 1057-1069. doi:10.1086/522591.

Item is

Basisdaten

einblenden: ausblenden:
Datensatz-Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-812D-1 Versions-Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-812E-0
Genre: Zeitschriftenartikel
Alternativer Titel : Am J Hum Genet.

Dateien

einblenden: Dateien
ausblenden: Dateien
:
PIIS0002929707638804.pdf (beliebiger Volltext), 2MB
 
Datei-Permalink:
-
Beschreibung:
-
Sichtbarkeit:
Eingeschränkt
MIME-Typ / Prüfsumme:
application/pdf
Technische Metadaten:
Copyright Datum:
-
Copyright Info:
eDoc_access: INSTITUT
Lizenz:
-

Externe Referenzen

einblenden:

Urheber

einblenden:
ausblenden:
 Urheber:
Mefford, Heather C., Autor
Clauin, Séverine, Autor
Sharp, Andrew J., Autor
Moller, Rikke S., Autor
Ullmann, Reinhard1, Autor              
Kapur, Raj, Autor
Pinkel, Dan, Autor
Cooper, Gregory M., Autor
Ventura, Mario, Autor
Ropers, Hans-Hilger2, Autor              
Tommerup, Niels, Autor
Eichler, Evan E., Autor
Bellanne-Chantelot, Christine, Autor
Affiliations:
1Molecular Cytogenetics (Reinhard Ullmann), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, escidoc:1479645              
2Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, escidoc:1433549              

Inhalt

einblenden:
ausblenden:
Schlagwörter: -
 Zusammenfassung: Most studies of genomic disorders have focused on patients with cognitive disability and/or peripheral nervous system defects. In an effort to broaden the phenotypic spectrum of this disease model, we assessed 155 autopsy samples from fetuses with well-defined developmental pathologies in regions predisposed to recurrent rearrangement, by array-based comparative genomic hybridization. We found that 6% of fetal material showed evidence of microdeletion or microduplication, including three independent events that likely resulted from unequal crossing-over between segmental duplications. One of the microdeletions, identified in a fetus with multicystic dysplastic kidneys, encompasses the TCF2 gene on 17q12, previously shown to be mutated in maturity-onset diabetes, as well as in a subset of pediatric renal abnormalities. Fine-scale mapping of the breakpoints in different patient cohorts revealed a recurrent 1.5-Mb de novo deletion in individuals with phenotypes that ranged from congenital renal abnormalities to maturity-onset diabetes of the young type 5. We also identified the reciprocal duplication, which appears to be enriched in samples from patients with epilepsy. We describe the first example of a recurrent genomic disorder associated with diabetes.

Details

einblenden:
ausblenden:
Sprache(n): eng - Englisch
 Datum: 2007-11-01
 Publikationsstatus: Im Druck publiziert
 Seiten: -
 Ort, Verlag, Ausgabe: -
 Inhaltsverzeichnis: -
 Art der Begutachtung: -
 Art des Abschluß: -

Veranstaltung

einblenden:

Entscheidung

einblenden:

Projektinformation

einblenden:

Quelle 1

einblenden:
ausblenden:
Titel: American Journal of Human Genetics : AJHG
  Alternativer Titel : Am J Hum Genet.
Genre der Quelle: Zeitschrift
 Urheber:
Affiliations:
Ort, Verlag, Ausgabe: -
Seiten: - Band / Heft: 81 (5) Artikelnummer: - Start- / Endseite: 1057 - 1069 Identifikator: ISSN: 0002-9297