M. Bertelli

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

• P. E. Maltese
• G. Di Saverio
• E. Manara
• F. Fanelli
• N. Capodicasa
• D. Guraj
• I. Shehaj
• B. Amato
• A. Babameto-Laku
• S. Michelini
• M. Bertelli

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 useful for detecting individuals at risk. Methods: A next generation sequencing custom gene panel comprising 11 genes ass.. Read More»

Genet. Mol. Res. 16(4): gmr16039823

DOI: 10.4238/gmr16039823

Clinical and molecular genetic study of 12 Italian families with autosomal recessive Stargardt disease

M. Oldani S. Marchi A. Giani S. Cecchin E. Rigoni A. Persi D. Podavini A. Guerrini A. Nervegna G. Staurenghi M. Bertelli

Stargardt disease was diagnosed in 12 patients from 12 families using complete ophthalmologic examination, fundus photography, fundus autofluorescence, and spectral-domain optical coherence tomography. DNA was extracted for polymerase chain reaction (PCR) and direct DNA sequencing (ABCA4 gene). Genetic counseling and eye examination were offered to 16 additional family members. Various patterns.. Read More»

Genet. Mol. Res. 11(4): 2012.October.9.3

DOI: 10.4238/2012.October.9.3

Prevalence of mutations in LEP, LEPR, and MC4R genes in individuals with severe obesity

B. Paolini, P.E. Maltese, I. Del Ciondolo, D. Tavian, S. Missaglia, C. Ciuoli, M. Zuntini, S. Cecchin, M. Bertelli and G. Pompucci

Obesity is a major public health concern; despite evidence of high heritability, the genetic causes of obesity remain unclear. In this study, we assessed the presence of mutations in three genes involved in the hypothalamic leptin-melanocortin regulation pathway (leptin, LEP; leptin receptor, LEPR; and melanocortin-4 receptor, MC4R), which is important for energy homeostasis in the body, in a g.. Read More»

Genet. Mol. Res. 15(3): gmr.15038718

DOI: 10.4238/gmr.15038718

TNFR1 -383 AÃ?Â?C polymorphism and ankylosing spondylitis in a Russian Caucasian population: a preliminary study

V. Mordovskii, A. Semenchukov, S.Y. Nikulina, A.B. Salmina, A. Chernova, E. Kapustina, A. Kents, A. Ohapkina, E. Moskaleva, P.E. Maltese, P. Convertini, M. Bertelli

The aim of this study was to assess the association between the TNFR1 rs2234649 polymorphism and ankylosing spondylitis susceptibility in a Russian Caucasian population. A total of 41 ankylosing spondylitis patients and 43 healthy controls, matched according to age and sex, were enrolled, and polymerase chain reaction-restriction fragment length polymo.. Read More»

Genet. Mol. Res. 16(1): gmr16019581

DOI: 10.4238/gmr16019581

Genetic evaluation of AMPD1, CPT2, and PGYM metabolic enzymes in patients with chronic fatigue syndrome

P.E. Maltese, L. Venturini, E. Poplavskaya, M. Bertelli, S. Cecchin, M. Granato, S.Y. Nikulina, A. Salmina, N. Aksyutina, E. Capelli, G. Ricevuti and L. Lorusso

Chronic fatigue syndrome (CFS) is a disease that can seriously impair one’s quality of life; patients complain of excessive fatigue and myalgia following physical exertion. This disease may be associated with abnormalities in genes affecting exercise tolerance and physical performance. Adenosine monophosphate deaminase(AMPD1), carnitine palmitoyltransferase II (CPT2), and the muscle isofo.. Read More»

Genet. Mol. Res. 15(3): gmr.15038717

DOI: 10.4238/gmr.15038717

Polymorphism of UGT1A1*28 (TA)7 and liver damage in hepatitis B virus-positive patients in Albania

E. Marku, P.E. Maltese, M. Koni, N. Capodicasa, I.S. Qendro, E. Rigoni, S. Cecchin and M. Bertelli

Hepatitis B virus (HBV) is the infectious agent of both acute and chronic hepatitis. HBV exists in multiple genotypic variants that differ in their capacity to become persistent chronic infections and in their clinical manifestations, including hepatocellular carcinoma. The 8 genotypes (A-H) of HBV show a specific worldwide geographic distribution and are correlated with different disease cours.. Read More»

Genet. Mol. Res. 14(2): 2015.May.18.13

DOI: 10.4238/2015.May.18.13

Genetic tests for low- and middle-income countries: a literature review

P.E. Maltese, E. Poplavskaia, I. Malyutkina, F. Sirocco, A. Bonizzato, N. Capodicasa, S.Y. Nicoulina, A. Salmina, N. Aksutina, M. Dundar, T. Beccari, S. Cecchin and M. Bertelli

The aim of this review is to describe a series of ten genetic diseases with Mendelian inheritance pattern in people of low- or middle-income countries, which can be easily identified with simple and affordable methods. Recent information shows that although genetic diseases account for more than 10% of infant mortality in such countries, testing, counseling, and tre.. Read More»

Genet. Mol. Res. 16(1): gmr16019466

DOI: 10.4238/gmr16019466

Genetic polymorphisms and retinal vein occlusion in an Italian population

L. De Polo, P.E. Maltese, E. Rigoni, M. Bertelli, S. Cecchin, G. Staurenghi and G. Stoppa

In this study, we assessed the prevalence of polymorphisms in genes involved in hyperhomocysteinemia or hemostasis to shed light on their role, if any, in retinal vein occlusion (RVO). We recruited 37 Italian patients (17 men and 20 women) with a diagnosis of central or branch RVO based on fundus examination and retinal fluorescein angiography, as well as 45 healthy controls. Risk factors and f.. Read More»

Genet. Mol. Res. 14(4): 2015.October.26.30

DOI: 10.4238/2015.October.26.30

Syndromic and non-syndromic forms of retinitis pigmentosa: a comprehensive Italian clinical and molecular study reveals new mutations

C.O. Pierrottet, M. Zuntini, M. Digiuni, I. Bazzanella, P. Ferri, R. Paderni, L.M. Rossetti, S. Cecchin, N. Orzalesi and M. Bertelli

Mutations in more than 60 different genes have been associated with non-syndromic and syndromic retinitis pigmentosa (RP), a heterogeneous group of inherited retinal dystrophies. To increase the understanding of the molecular epidemiology of the disease in Italy, we analyzed 56 patients with syndromic and non-syndromic forms of RP attending the Retinitis Pigmentosa Center of San Paolo Hospital .. Read More»

Genet. Mol. Res. 13(4):