Zobrazeno 1 - 10
of 44
pro vyhledávání: '"S. DiMaio"'
Publikováno v:
American Journal of Kidney Diseases. 72:866-872
Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common hereditary forms of chronic kidney disease. Mutations within PKD1 or PKD2 lead to innumerable fluid-filled cysts in the kidneys and in some instances, end-stage renal dise
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87fe94e429a2c8120389954885001d60
https://doi.org/10.1053/j.ajkd.2018.01.048
https://doi.org/10.1053/j.ajkd.2018.01.048
Publikováno v:
Molecular Genetics and Metabolism. 132:S102-S103
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::194f4fa01fc56d0ee2ba62ad442b3375
https://doi.org/10.1016/s1096-7192(21)00239-0
https://doi.org/10.1016/s1096-7192(21)00239-0
Publikováno v:
Meta Gene. 11:147-151
We report a familial case of Simpson-Golabi-Behmel syndrome type 1 (SGBS1) with prenatal ultrasound findings of bilateral ventriculomegaly and polyhydramnios and postnatal findings of macroglossia, macrosomia and other dysmorphic features. Oligonucle
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bbb276fcae2f4a25fc9021ecd073bccd
https://doi.org/10.1016/j.mgene.2016.08.008
https://doi.org/10.1016/j.mgene.2016.08.008
Publikováno v:
Genetics in Medicine. 7:246-250
Purpose: To document our experience with fragile X carrier screening. Methods: In this study, 29,103 women with no known or suspected family history of fragile X syndrome were offered fragile X carrier screening during their prenatal genetic counseli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8603e5c71b187679f798606bbadc4a1
https://doi.org/10.1097/01.gim.0000159898.90221.d3
https://doi.org/10.1097/01.gim.0000159898.90221.d3
Publikováno v:
Scopus-Elsevier
In order to evaluate the effect of growth hormone (GH) on erythropoiesis, red blood cell (RBC) indices (hemoglobin, Hb; hematocrit, Ht; RBC count, and mean corpuscular volume, MCV) of 19 GH-deficient children (12 with isolated GH deficiency and 7 wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88e964d301a72b42c0f0e807e410d87b
https://doi.org/10.1159/000185433
https://doi.org/10.1159/000185433
Autor:
E Cacciari, Giorgio Radetti, F. Deluca, Silvano Milani, Brunetto Boscherini, P. Balestrazzi, A. M. Pasquino, Fabio Buzi, G Mazzilli, Carlo Pintor, Orazio Gabrielli, Cecilia Volta, P Matarazzo, Francesco Carlo Morabito, Giuseppe Chiumello, F. Rigon, F DeMatteis, GTonini (Trieste), S DiMaio, C. Desanctis, Franco Dammacco, Anna Spada, G Giovannelli, L. Benso, Luciano Tatò, Luciano Cavallo, Laura Mazzanti, GP Stoppoloni, V. DeSanctis, Silvia Vannelli, Giuseppe Saggese, U Klain, R Berardi, S. Bernasconi, G. Aicardi, G Nizzoli, A Licursi, P. Borrelli, Francesca Severi, S Lamanna, Daniela Larizza
Publikováno v:
Acta Paediatrica. 83:292-298
In 1990, the Italian Study Group for Turner's Syndrome (ISGTS) undertook a nationwide survey, involving the retrospective collection of cross-sectional data and longitudinal growth profiles of 772 girls with Turner's syndrome born between 1950 and 19
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7fc4e45b05235bc91c51926a95dfb9a7
https://doi.org/10.1111/j.1651-2227.1994.tb18097.x
https://doi.org/10.1111/j.1651-2227.1994.tb18097.x
First-trimester prenatal diagnosis of osteogenesis imperfecta type II by DNA analysis and sonography
Autor:
Daniel H. Cohn, Kathryn E. Koprivnikar, Richard A. Barth, Miriam S. DiMaio, Peter H. Byers, Maurice J. Mahoney, Joshua A. Copel, Betsy L. Sussman
Publikováno v:
Prenatal Diagnosis. 13:589-596
Osteogenesis imperfecta type II was diagnosed prenatally by analysis of DNA obtained from chorionic villus sampling (CVS) performed at 12 weeks of gestation in a woman who previously had had an affected child. The father had been shown to be mosaic f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ddb741692dbaf6f13224e6eafceac08
https://doi.org/10.1002/pd.1970130709
https://doi.org/10.1002/pd.1970130709
Publikováno v:
Prenatal Diagnosis. 13:481-494
Thirty-nine (2.3 per cent) of 1724 chromosome studies from diagnostic chorionic villus samplings (CVS) done between 1983 and 1990 showed either level III (true) mosaicism (1.2 per cent) or level II (pseudo-) mosaicism (1.1 per cent) for chromosomal a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::faf2279289ddd97e96a46bfdf0db9779
https://doi.org/10.1002/pd.1970130610
https://doi.org/10.1002/pd.1970130610
Publikováno v:
Prenatal Diagnosis: Cases & Clinical Challenges ISBN: 9780470696262
Prenatal Diagnosis: Cases & Clinical Challenges
Prenatal Diagnosis: Cases & Clinical Challenges
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::87d3367d31add3eed9253cb40509af4e
https://doi.org/10.1002/9780470696262.ch5
https://doi.org/10.1002/9780470696262.ch5
Publikováno v:
Prenatal Diagnosis: Cases & Clinical Challenges ISBN: 9780470696262
Prenatal Diagnosis: Cases & Clinical Challenges
Prenatal Diagnosis: Cases & Clinical Challenges
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f18ea3aaddc2319c064fe53c6fb6d42f
https://doi.org/10.1002/9780470696262.ch7
https://doi.org/10.1002/9780470696262.ch7