Zobrazeno 1 - 10
of 274
pro vyhledávání: '"E. Donti"'
Introduction: Obesity has become one of the major health risks in childhood, significantly affecting children’s health and physical fitness. Although the marked increase of obesity in urban areas is well established, evidence is limited in remote a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::79b965829e7a55293d41956eca751533
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3178078
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3178078
Autor:
P, Prontera, G, Clerici, L, Bernardini, M, Schippa, A, Capalbo, I, Manes, M G, Giuffrida, M G, Barbieri, C, Ardisia, E, Donti
Publikováno v:
Genetic counseling (Geneva, Switzerland). 22(1)
We describe a foetus with an interstitial deletion of 1q detected in amniotic fluid cells and we review the literature of similar pre- and postnatal cases, in order to identify prognostic factors useful for prenatal counselling. Foetal/parents karyot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::35c927ef4c9e3cfbf887e98698674ea2
https://pubmed.ncbi.nlm.nih.gov/21614987
https://pubmed.ncbi.nlm.nih.gov/21614987
Autor:
P, Prontera, B, Buldrini, V, Aiello, D, Rogaia, A, Mencarelli, R, Gruppioni, A, Bonfatti, N, Beltrami, E, Donti, A, Sensi
Publikováno v:
Genetic counseling (Geneva, Switzerland). 21(1)
A pericentric inversion of chromosome 18 [inv(18)(p11.32q22)] and its recombinants has been studied in a three-generation family. A mother/son couple, carrying the rec dup(18q), showed dysmorphisms and short stature but only the son had mild mental r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f2bad41060ec37cc0115c390823fafeb
https://pubmed.ncbi.nlm.nih.gov/20420035
https://pubmed.ncbi.nlm.nih.gov/20420035
Publikováno v:
Genetic counseling (Geneva, Switzerland). 19(4)
The ankyloblepharon-ectodermal defects-cleft lip and palate (Hay-Wells or AEC) and the Rapp-Hodgkin syndrome (RHS) are rare autosomal dominant ectodermal dysplasias due to mutations in the transcription factor gene P63. Both are caused by mutations a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6e312692b3c69ef89aa221eb0c04a893
https://pubmed.ncbi.nlm.nih.gov/19239083
https://pubmed.ncbi.nlm.nih.gov/19239083
Autor:
M. Nicaise, Elisabeth M. Schraner, G. Venti, Ricardo Martinez-Murillo, Elena R. Andreeva, S. Andracchi, M.J. Daaod, S.K. Saidapur, Robert D. Yates, J. Sonoo, Kazuyoshi Higashi, E. Donti, S.B. Patil, John W. Hermanson, J.F. Escanero, Alexander N. Orekhov, G. Godlewski, T. Gomi, F.M. Tripathi, José M. López-Novoa, S. Rodriguez, Henri Lauwers, Guillermo Giménez-Gallego, Paul Simoens, H. Tsuchiya, K. Kishi, Peter J. Wild, B. Keller, V.K. Shukla, S.K. Pandey, Fernando Carceller, Maria Bodo, N. Arena, V.N. Smirnov, Shozo Sasa, M.T. Hegemann-Monachelli, A. Kimura, E. Becchetti, T. Baron, A. Caballero, G. Paludetti, C.B. Tripath, Pedro Cuevas, A.S. Ayettey, C.N.B. Tagoe, G.E. Korte, Y. Kikuchi, W.A. LaFramboise, R. Gaubert-Cristol
Publikováno v:
Cells Tissues Organs. 141:I-IV
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::55efc9b96559dc44768f5154d983042f
https://doi.org/10.1159/000147136
https://doi.org/10.1159/000147136
Publikováno v:
European journal of human genetics : EJHG. 5
In Italy, there are about 560,000 births per year. The number of prenatal diagnoses (PND) performed is estimated at 80,000 examinations per year, but no official data are available regarding the distribution of the different procedures. There are no
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1fb11b21a9bc025fa42dc4658d862a84
https://pubmed.ncbi.nlm.nih.gov/9101178
https://pubmed.ncbi.nlm.nih.gov/9101178
Autor:
M, Bodo, G, Venti, T, Baroni, C, Bellucci, M, Giammarioli, E, Donti, G, Paludetti, G, Stabellini, P, Carinci
Publikováno v:
Cellular and molecular biology (Noisy-le-Grand, France). 41(8)
A study was carried out to obtain a more detailed picture of the phenotypes of human otosclerotic and normal bone cells and to analyse the response of both populations to treatment with TGF beta 1. Total collagen synthesis was found to be decreased,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c2798a1b371adec391198bd2ff02f74c
https://pubmed.ncbi.nlm.nih.gov/8747085
https://pubmed.ncbi.nlm.nih.gov/8747085
Publikováno v:
Leukemia. 9(10)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4f2418b6e77e9a8a32756b32e7d9b355
https://pubmed.ncbi.nlm.nih.gov/7564527
https://pubmed.ncbi.nlm.nih.gov/7564527
Publikováno v:
Cellular and molecular biology (Noisy-le-Grand, France). 38(5-6)
Some biosynthetic activities of normal and otosclerotic temporal bone cultures have been studied. Bone cells were cultured for 24 hrs. in medium containing 3H-glucosamine, 35SO4 or 3H-proline. Labelled glycosaminoglycans (GAG) and proteins were preci
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::195a0a112829a7eb33b08d6ee27f6abf
https://pubmed.ncbi.nlm.nih.gov/1483113
https://pubmed.ncbi.nlm.nih.gov/1483113
Publikováno v:
Cancer genetics and cytogenetics. 60(2)
Two patients with M2 subtype of acute nonlymphocytic leukemia (ANLL) and trisomy 4 as a primary karyotype change are described. The abnormality was observed in 100% of bone marrow (BM) metaphases in both cases. It appeared alone in one case and was a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::03629064f78c0ed3d52e5ccd005c848d
https://pubmed.ncbi.nlm.nih.gov/1606565
https://pubmed.ncbi.nlm.nih.gov/1606565