Zobrazeno 1 - 10
of 11
pro vyhledávání: '"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
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
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
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
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
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
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
A Pilot Beta-Thalassaemia Screening Program in the Albanian Population for a Health Planning Program
Autor:
Silvia Russo, Federica Sangiuolo, Leila Baghernajad-Salehi, Giuseppe Novelli, Maria Rosaria D'Apice, Anila Mitre, Michela Biancolella, Nicola Di Daniele, Vahe Mokini, Anila Babameto-Laku
Publikováno v:
Acta Haematologica. 121:234-238
In Albania, no definite national screening programme of beta-thalassaemia has yet been developed for carrier detection. Only limited information about the occurrence and the types of haemoglobin abnormalities is available. Thus, an educational and sc
Autor:
Eibhlin Conneally, Li An, Kanokwan Sanchaisuriya, A.S. Araújo, M.N.N. Santos, L.R.S. Vasconcelos, Nicholas C. Zoumbos, Hiroshi Handa, Yoshihisa Nojima, F. Lacquet, Eleni D. Lagadinou, A. Ruiz-Sáez, Maria K. Angelopoulou, Theodoros P. Vassilakopoulos, Maria Rosaria D'Apice, Yoshiaki Ishigatsubo, Arito Yamane, Shin Fujisawa, Giuseppa Penna, Hirotaka Nakahashi, Caterina Musolino, Hiroyuki Fujita, Naoto Tomita, M.M. Speeckaert, Jian Ouyang, P. Moura, Rie Hyo, Olga Tsopra, Jing Wang, Jun Taguchi, Kengo Takeuchi, Anila Mitre, Shigeki Motomura, Chizuko Hashimoto, Alessandro Allegra, C. Verhelst, Supan Fucharoen, Gyo Jun, A. Koch, Sarah Daly, Sachiya Takemura, Goonnapa Fucharoen, Argiris Symeonidis, M.S.M. Cavalcanti, Bing Chen, T.F. Mendonça, Thawalwong Ratanasiri, Hideki Uchiumi, Masaru Kojima, Jae-Won Park, Michela Biancolella, Gerassimos A. Pangalis, Nattaya Sae-ung, Hirokazu Murakami, Y. Tersek, Panos G. Ziros, Angela Granata, Andrea Alonci, Rossarin Karnpean, Giuseppe Novelli, Jeong-Soo Im, Yonggong Yang, R. Speeckaert, Leila Baghernajad-Salehi, Yun-Jae Jung, M.A.C. Bezerra, Patricia Rizzotti, Norifumi Tsukamoto, Ju Young Seoh, Koji Ogawa, Silvia Russo, Federica Sangiuolo, Masamitsu Karasawa, Arianna D'Angelo, R. Marchi Cappelletti, Eleni Thanopoulou, Takayuki Saitoh, Alexandra Kouraklis-Symeonidis, Stephen E. Langabeer, Shi Chen, Chang-Hoon Jeon, Nicola Di Daniele, Vahe Mokini, Anila Babameto-Laku, M.C.V.C. Oliveira, M. Meyer, Rongfu Zhou
Publikováno v:
Acta Haematologica. 121:I-IV
Autor:
Luljeta Çakërri, Anila Babameto-Laku, Elira Myrtaj, Dorina Minxuri, Klodiana Gjoka, Petrit Hoxha, Gentian Vyshka
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 28
The aim of this study was the evaluation of Turner syndrome inside the Albanian population, its clinical, cytological and genetic characteristics, the accompanying pathologies, and the efficacy of the treatment with the growth hormone. We performed a