Deutsch
 
Hilfe Datenschutzhinweis Impressum
  DetailsucheBrowse

Datensatz

DATENSATZ AKTIONENEXPORT
Zur Ablage hinzufügen
 Lokale TagsFreigabegeschichteDetailsÜbersicht
  Interstitial deletion of chromosome 4p associated with mild mental retardation, epilepsy and polymicrogyria of the left temporal lobe.

Møller, R. S., Hansen, C. P., Jackson, G. D., Ullmann, R., Ropers, H.-H., Tommerup, N., et al. (2007). Interstitial deletion of chromosome 4p associated with mild mental retardation, epilepsy and polymicrogyria of the left temporal lobe. Clinical Genetics, 72(6), 593-598. doi:10.1111/j.1399-0004.2007.00901.x.

Item is

 

einblenden: alle ausblenden: alle

Basisdaten

einblenden: ausblenden:
Datensatz-Permalink: https://hdl.handle.net/11858/00-001M-0000-0010-8108-4 Versions-Permalink: https://hdl.handle.net/11858/00-001M-0000-0010-8109-2
Genre: Zeitschriftenartikel
Alternativer Titel : Clin. Genet.

Dateien

einblenden: Dateien
ausblenden: Dateien
:
showPdf_submitPDF=Full+Text+PDF+%28206+KB%29&doi=10.1111%2Fj.1399-0004.2007.00901.pdf (beliebiger Volltext), 206KB
 
Datei-Permalink:
-
Name:
showPdf_submitPDF=Full+Text+PDF+%28206+KB%29&doi=10.1111%2Fj.1399-0004.2007.00901.pdf
Beschreibung:
-
OA-Status:
Sichtbarkeit:
Eingeschränkt (Max Planck Institute for Molecular Genetics, MBMG; )
MIME-Typ / Prüfsumme:
application/pdf
Technische Metadaten:
Copyright Datum:
-
Copyright Info:
eDoc_access: INSTITUT
Lizenz:
-

Externe Referenzen

einblenden:

Urheber

einblenden:
ausblenden:
 Urheber:
Møller, R. S., Autor
Hansen, C. P., Autor
Jackson, G. D., Autor
Ullmann, Reinhard1, Autor           
Ropers, Hans-Hilger2, Autor           
Tommerup, Niels, Autor
Tümer, Z., Autor
Affiliations:
1Molecular Cytogenetics (Reinhard Ullmann), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479645              
2Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              

Inhalt

einblenden:
ausblenden:
Schlagwörter: -
 Zusammenfassung: In this study, we present a 38-year-old woman with an interstitial deletion of 4p15.1-15.3, mild mental retardation, epilepsy and polymicrogyria adjacent to an arachnoid cyst of the left temporal lobe. The deletion was ascertained through array-comparative genome hybridization screening of patients with epilepsy and brain malformations. To date, about 35 patients with cytogenetically visible deletions involving 4p15 and without Wolf-Hirschhorn syndrome have been described, but the extent of the deletions has not been determined in the majority of these cases. The clinical manifestations of the patient described in this study were similar but not identical to the previously reported cases with 4p15 interstitial deletions. This finding indicates the presence of one or more genes involved in brain development and epilepsy in this chromosome region.

Details

einblenden:
ausblenden:
Sprache(n): eng - English
 Datum: 2007-12-01
 Publikationsstatus: Erschienen
 Seiten: -
 Ort, Verlag, Ausgabe: -
 Inhaltsverzeichnis: -
 Art der Begutachtung: -
 Identifikatoren: eDoc: 334524
DOI: 10.1111/j.1399-0004.2007.00901.x
URI: http://www.blackwell-synergy.com/action/showPdf?submitPDF=Full+Text+PDF+%28206+KB%29&doi=10.1111%2Fj.1399-0004.2007.00901.x
 Art des Abschluß: -

Veranstaltung

einblenden:

Entscheidung

einblenden:

Projektinformation

einblenden:

Quelle 1

einblenden:
ausblenden:
Titel: Clinical Genetics
  Alternativer Titel : Clin. Genet.
Genre der Quelle: Zeitschrift
 Urheber:
Affiliations:
Ort, Verlag, Ausgabe: -
Seiten: - Band / Heft: 72 (6) Artikelnummer: - Start- / Endseite: 593 - 598 Identifikator: ISSN: 0009-9163