A Novel Pathological ARSB Mutation (c.870G>A; p.Trp290stop) in Mucopolysaccharidosis Type VI Patients

Autor: Veysel Sabri Hancer, Murat Büyükdoğan, Anila Babameto-Laku

Publikováno v: Mol Syndromol

Mucopolysaccharidosis (MPS) type VI, also known as Maroteaux-Lamy syndrome, is a lysosomal storage disorder, characterized by the deficiency of the arylsulfatase B enzyme. The clinical phenotype and severity of the illness varies according to the res

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc2d2e87975c5334442c6aa1fd28e90b
https://doi.org/10.1159/000502597

Epileptic Seizures Associated with Chromosomal Abnormalities Detected by Array Comparative Genomic Hybridization in Five Albanian Children

Autor: Jera Kruja, Anila Babameto-Laku, Gentian Vyshka, Serla Grabova

Publikováno v: Journal of Pediatric Epilepsy. :156-160

Epilepsy is an ever-changing field of research, with genetics and genomics playing a very important role in recent times. Novel technologies detecting chromosomal aberrations are applied widely, and array-based comparative genomic hybridization (arra

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::96b35b63335a0d2ce8f60d489c797e8c
https://doi.org/10.1055/s-0037-1603493

A targeted NGS approach to identify a C.352C>G variant in the TWIST1 gene in an Albanian family with Saethre–Chotzen syndrome

Autor: Manara, Elena, Guraj, Denisa, Fanelli, Francesca, Maltese, Paolo E., Babameto-Laku, Anila, Capodicasa, Natale, Michelini, Sandro, Amato, Bruno, Bertelli, Matteo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3730::ca6f006df5b04ac21e255664666f0da7
http://hdl.handle.net/11588/700083

Genetic Diagnosis of Chromosomal Congenital Anomalies in Albanian Pediatric Patients by Array CGH

Autor: Anila Babameto-Laku, Gentian Vyshka, Dorina Roko

Publikováno v: Open Access Macedonian Journal of Medical Sciences; Vol 5, No 5 (2017): Aug 15 (OAMJMS); 587-591
Open Access Macedonian Journal of Medical Sciences, Vol 5, Iss 5, Pp 587-591 (2017)
Open Access Macedonian Journal of Medical Sciences; Vol 5 No 5 (2017): Aug 15 (OAMJMS); 587-591
Open Access Macedonian Journal of Medical Sciences

AIM: The aim of our study was to identify chromosomal imbalances by whole-genome microarray-based comparative genomic hybridization (array CGH) in DNA samples of children in which karyotype results cannot be obtained. The present paper describes the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16aa6ea9f584357d90d55c73da643224
http://www.id-press.eu/mjms/article/view/oamjms.2017.147

Research Article Clinical and molecular findings in an Albanian family with familial adenomatous polyposis

Autor: I. Shehaj, Matteo Bertelli, Francesca Fanelli, S Michelini, Natale Capodicasa, Elena Manara, G. Di Saverio, D. Guraj, Bruno Amato, Anila Babameto-Laku, Paolo Enrico Maltese

Publikováno v: Genetics and Molecular Research. 16

Purpose: Familial adenomatous polyposis is an inherited precancerous condition characterized by multiple colorectal polyps. This brief report describes three generations of a family with a history of colorectal cancer in which genetic testing was use

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a042fb01c8bda16026172a41cb9348ac
https://doi.org/10.4238/gmr16039823