Zobrazeno 1 - 10
of 306
pro vyhledávání: '"L, Perroni"'
Autor:
Emilio Di Maria, Davide Gonella, Sergio Cammarata, Valeria Pollero, Roberta Borghi, Maria Isola Parodi, Daniela Galimberti, Luisa Benussi, Massimo Tabaton, Cristina Novello, Roberta Ghidoni, Elio Scarpini, Patrizio Odetti, Giuliano Binetti, L. Perroni, Marialaura Galli
Publikováno v:
Journal of Alzheimer's Disease. 19:909-914
Mild cognitive impairment is often considered a transitional condition prodromal to Alzheimer's disease. The dissection of genetic risk factors predisposing to mild cognitive impairment is paramount to assess the individual predisposition and reliabl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9aff6736a492bd0c942c58f136d1cc1c
https://doi.org/10.3233/jad-2010-1285
https://doi.org/10.3233/jad-2010-1285
Autor:
L. Bindl, L. Perroni, Troy Torgerson, Hans D. Ochs, Nelly Youssef, Frank M. Ruemmele, Olivier Goulet
Publikováno v:
The Journal of Pediatrics. 147:256-259
IPEX (immune-dysregulation, polyendocrinopathy, enteropathy, X-linked) syndrome is an autoimmune disorder with an often lethal outcome in spite of immunosuppressive therapy. We report the successful use of sirolimus in 3 patients with IPEX. The effic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f13ad48a6071f028e26ef0a8da88232d
https://doi.org/10.1016/j.jpeds.2005.04.017
https://doi.org/10.1016/j.jpeds.2005.04.017
Publikováno v:
Scopus-Elsevier
As the knowledge of parental origin and meiotic stage of nondisjunction is the prerequisite to evaluation of the possible etiological factors in trisomy 21, we have examined 343 families with at least one Down syndrome child. Of these, 322 were prima
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a589ec6de73f04351df9043c016a01b2
https://doi.org/10.1002/ajmg.1320370726
https://doi.org/10.1002/ajmg.1320370726
Autor:
M Baldi, C Pedemonte, L. Perroni, Mauro Pierluigi, F. Dagna Bricarelli, Maurizia Grasso, P. Strigini
Publikováno v:
American Journal of Medical Genetics. 37:141-147
To test the hypothesis that meiotic nondisjunction may be caused by reduced chiasma frequency, hence recombination, we investigated 60 families with a trisomic child affected with Down syndrome (DS). We analyzed cytogenetic heteromorphisms (CH) and a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::524c74f42c2bc813955f02fbf0717015
https://doi.org/10.1002/ajmg.1320370729
https://doi.org/10.1002/ajmg.1320370729
Publikováno v:
Molecular Ecology. 13:1601-1606
Using four highly polymorphic microsatellite markers (12–28 alleles), we gentoyped workers from 63 colonies of Pogonomyrmex occidentalis . Colonies have a single, multiply mated queen, and an average number of 6.3 patrilines per colony. Colony grow
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9fb299c84161d39204a02a419a491580
https://doi.org/10.1111/j.1365-294x.2004.02153.x
https://doi.org/10.1111/j.1365-294x.2004.02153.x
Publikováno v:
Journal of Endocrinological Investigation. 24:217-223
Varicocele is the most common clini- cal finding in infertile men but controversy con- tinues to surround the utility of its treatment. An increased response of FSH to gonadotrophin-re- leasing hormone testing has been described in pa- tients with va
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3812136fca6d5edb799d1fd01f7a8851
https://doi.org/10.1007/bf03343850
https://doi.org/10.1007/bf03343850
Autor:
Giovanni Neri, G. Andria, C. Lo Nigro, Pietro Chiurazzi, L. Perroni, Maria Grazia Pomponi, M. Lecora, A. Argusti, Marina Grasso, Francesca Faravelli, Gianfranco Sebastio, Maria Pia Sperandeo, F. Dagna Bricarelli
Publikováno v:
American Journal of Medical Genetics. 85:311-316
The molecular mechanism of the fragile X syndrome is based on the expansion of an unstable CGG repeat in the 5' untranslated region of the FMR1 gene in most patients. This expansion is associated with an abnormal DNA methylation leading to the absenc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::48a457d1dc40dcf4ca8e9e8c07b37a74
https://doi.org/10.1002/(sici)1096-8628(19990730)85:3<311::aid-ajmg24>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19990730)85:3<311::aid-ajmg24>3.0.co
Autor:
P. De Cassan, L. Perroni, F. Dagna Bricarelli, F. Forzano, Francesca Faravelli, Roberto Cusano, C. Baldo
Publikováno v:
Prenatal Diagnosis. 26:487-489
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f38b99742135f5a81eeed2832abbe09d
https://doi.org/10.1002/pd.1440
https://doi.org/10.1002/pd.1440
Autor:
Marina Grasso, L. Perroni, A. Argusti, F. Dagna Bricarelli, G. F. Croci, G. P. Garani, Leopoldo Zelante, C. Lo Nigro
Publikováno v:
American Journal of Medical Genetics. 64:176-180
We report on a series of 453 mentally retarded subjects investigated for fragile X syndrome from 1982 to July 1995. The 22% rate of efficiency of FRAX positivity indicated a significant preselection by the clinicians. However, this rate dropped to 11
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a240ae7154739a4dceebb1ca755b559d
https://doi.org/10.1002/(sici)1096-8628(19960712)64:1<176::aid-ajmg30>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19960712)64:1<176::aid-ajmg30>3.0.co
Autor:
Robert S. Wildin, Fred Ramsdell, Jane Peake, Ephrat Levy-Lahad, Olivier Goulet, Massimo Mazzella, Sean Proll, Franca Dagna Bricarelli, Geoffrey Byrne, Jean-Laurent Casanova, Mary E. Brunkow, L. Perroni, Mark McEuen, Francesca Faravelli, Mark Appleby, Neil R. M. Buist
Publikováno v:
Nature Genetics. 27:18-20
To determine whether human X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome (IPEX; MIM 304930) is the genetic equivalent of the scurfy (sf) mouse, we sequenced the human ortholog (FOXP3) of the gene mutated in scurfy mice
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1f5c6369a87c3719739ab2d18497ddf
https://doi.org/10.1038/83707
https://doi.org/10.1038/83707