Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Lorenzo Andrea Bassi"'
Autor:
Mariangela Cisternino, Erika Della Mina, Laura Losa, Alexandra Madè, Giulia Rossetti, Lorenzo Andrea Bassi, Giovanni Pieri, Baran Bayindir, Jole Messa, Orsetta Zuffardi, Roberto Ciccone
Publikováno v:
Case Reports in Genetics, Vol 2013 (2013)
We report a girl with a de novo distal deletion of 9p affected by idiopathic central precocious puberty and intellectual disability. Genome-wide array-CGH revealed a terminal deletion of about 11 Mb, allowing to define her karyotype as 46; XX, del(9)
Externí odkaz:
https://doaj.org/article/54b2aefd8aa74938b952d1a1d04a7604
Autor:
Daniela Barbarini, Grazia Bossi, Gaetana Anna Rispoli, Antonio Vergori, Edoardo Errichiello, Orsetta Zuffardi, Piero Marone, Vincenzina Monzillo, Mara De Amici, Marco Zecca, Lorenzo Andrea Bassi
Publikováno v:
J Pediatr Genet
Complete interferon-γ receptor 1 deficiency is a monogenic primary immunodeficiency caused by IFNGR1 germline defects, with autosomal dominant or recessive inheritance, which results in invasive mycobacterial diseases with varying degrees of severit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8888bfbcfe9293e5f06b7570878eeb64
https://europepmc.org/articles/PMC7375849/
https://europepmc.org/articles/PMC7375849/
Autor:
Stella Boghen, Lorenzo Andrea Bassi, Federico Cattaneo, Lucia Bianchi, Paola Longaretti, Elena Borali, Antonietta Marchi, Ilaria Possenti
Publikováno v:
Pediatric Annals. 44:97-99
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df9edf2d2445845648bfd550699bbd74
https://doi.org/10.3928/00904481-20150313-05
https://doi.org/10.3928/00904481-20150313-05
Autor:
Lorenzo Andrea Bassi, Caterina Brasacchio, Katia Maruca, Mariangela Cisternino, Stefano Mora, Alessandra Mingione, Ilaria Brambilla, Silvia Capelli, Laura Soldati
Publikováno v:
Molecular and cellular endocrinology. 439
Autosomal Dominant Hypocalcemia (ADH) is an endocrine disorder due to activating mutations of the calcium-sensing receptor (CASR) gene. We report on a young boy who presented low serum calcium with hypercalciuria, hyperphosphatemia and low serum conc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e30b53431a99b5cbf9f6eb0b6b792410
https://pubmed.ncbi.nlm.nih.gov/27561204
https://pubmed.ncbi.nlm.nih.gov/27561204
Autor:
Maria Cristina Vigone, Lorenzo Andrea Bassi, Stefano Mora, Arianna Passoni, Giovanna Weber, Elena Peroni, Clara Pozzi
Publikováno v:
Hormone research in paediatrics. 81(1)
Aims: To compare the effects of liquid and tablet formulations of levothyroxine (L-T4) in 78 newborns with congenital hypothyroidism (CH). Methods: 39 patients received liquid L-T4 (group A) and 39 patients received tablets (group B). Thyroid-stimula
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::973a56d423888463edcc061a01721aab
https://pubmed.ncbi.nlm.nih.gov/24247169
https://pubmed.ncbi.nlm.nih.gov/24247169