Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Anila Babameto"'
Autor:
Agim Gjikopulli, Sonila Tomori, Donjeta Bali, Paskal Cullufi, Laurant Kollcaku, Mirela Tabaku, Anila Babameto
Publikováno v:
International Journal of Biomedicine, Vol 14, Iss 2, Pp 275-281 (2024)
Background: There is no doubt that the use of rhGH in patients with TS brings satisfactory results regarding the improvement of height growth, realizing the improvement of the final adult height. This study aimed to evaluate the influence of the type
Externí odkaz:
https://doaj.org/article/58e57ac111d3459c8ed2e23469d6c612
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
https://doi.org/10.1159/000502597
Publikováno v:
Journal of the Neurological Sciences. 429:118273
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::831a4702582763110a1e9e8e8838fcb9
https://doi.org/10.1016/j.jns.2021.118273
https://doi.org/10.1016/j.jns.2021.118273
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
https://doi.org/10.1055/s-0037-1603493
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
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
http://www.id-press.eu/mjms/article/view/oamjms.2017.147
Autor:
Anila Babameto-Laku, Natale Capodicasa, Paolo Enrico Maltese, Matteo Bertelli, Francesca Fanelli, Elena Manara, ro Michelini, Bruno Amato, Denisa Guraj
Publikováno v:
Genetics and Molecular Research. 16
A targeted next generation sequencing (NGS) approach analysing contemporaneously 20 different genes mainly involved in craniosynostosis was adopted to molecularly diagnose the family of a 2-years old girl affected by Saethre–Chotzen syndrome, a syn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8eb2ec2d03fe97977a9ac6f63b91ccca
https://doi.org/10.4238/gmr16039828
https://doi.org/10.4238/gmr16039828
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
https://doi.org/10.4238/gmr16039823
Autor:
Marjeta Kermaj, Agron Ylli, Thanas Fureraj, Ermira Muco, Enalda Demaj, Dorina Ylli, Anisa Zeqja, Anila Babameto, Mirjeta Guni
Publikováno v:
Endocrine Abstracts.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::51a3bb599f3d0ef908e92bdc28d0a34f
https://doi.org/10.1530/endoabs.41.ep276
https://doi.org/10.1530/endoabs.41.ep276
Publikováno v:
Balkan Journal of Medical Genetics : BJMG
Balkan Journal of Medical Genetics, Vol 15, Iss 2, Pp 73-76 (2012)
Balkan Journal of Medical Genetics, Vol 15, Iss 2, Pp 73-76 (2012)
A patient with karyotype 46,XY,der(4) was recognized by standard cytogenetic techniques, and presented with facial features, neurological impairment and pulmonary hypertension. Multiplex ligation-dependent probe amplification (MLPA) demonstrated dupl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef482fd0e133eecafd7c4327c6ee77be
https://doi.org/10.2478/bjmg-2013-0010
https://doi.org/10.2478/bjmg-2013-0010
Publikováno v:
Balkan Journal of Medical Genetics, Vol 14, Iss 1, Pp 45-50 (2011)
Balkan Journal of Medical Genetics : BJMG
Balkan Journal of Medical Genetics : BJMG
Molecular Genetic Characterization of β-Thalassemia and Sickle Cell Syndrome in the Albanian Populationβ-Thalassemia (β-thal) is a major public health problem in Albania as it is in many Mediterranean countries. We determined the different β-thal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::425fe41674d214af637bd038249ff425
https://doaj.org/article/1bf30edd2f244208ae2d9dfd44ebaaa0
https://doaj.org/article/1bf30edd2f244208ae2d9dfd44ebaaa0