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Autor: L, Garavelli, A, Donadio, M, Sigorini, L, Grassi, G, Banchini

Publikováno v: Acta bio-medica de L'Ateneo parmense : organo della Societa di medicina e scienze naturali di Parma. 71(3-4)

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder characterised by cafè au lait spots, multiple neurofibromas and Lisch nodules of the iris, with marked variability of expression. The NF1 gene is located at 17q11.2, spans 350 kb genom

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::7b43120f0d5d6e9dc2e496686c319331
https://pubmed.ncbi.nlm.nih.gov/11424621

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Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1

Autor: A E, Lin, P H, Birch, B R, Korf, R, Tenconi, M, Niimura, M, Poyhonen, K, Armfield Uhas, M, Sigorini, R, Virdis, C, Romano, E, Bonioli, P, Wolkenstein, E K, Pivnick, M, Lawrence, J M, Friedman

Publikováno v: American journal of medical genetics. 95(2)

Although it is well recognized that a peripheral vasculopathy may occur in patients with neurofibromatosis 1 (NF1), it is unclear whether cardiovascular abnormalities are more common. We reviewed the frequency of cardiovascular abnormalities, in part

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::ebbbbbc330fef89e339e453f12332e64
https://pubmed.ncbi.nlm.nih.gov/11078559

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Early spontaneous regression of a hypothalamic/chiasmatic mass in neurofibromatosis type 1: MR findings

Autor: P. Bassi, Giulio Zuccoli, M. Sigorini, R. Virdis, Massimo Bellomi, Francesco Ferrozzi

Publikováno v: European radiology. 10(7)

A patient with neurofibromatosis type 1 was found to have an enhancing mass in the hypothalamus and in the anterior optic pathway. A 3-month MR study showed a reduction in the size and enhancement of the mass. At a 9-month MR follow-up the mass disap

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2cae7246124d55e4b6022f2640ad865
https://pubmed.ncbi.nlm.nih.gov/11734972

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Magnetic resonance findings and ophthalmologic abnormalities are correlated in patients with neurofibromatosis type 1 (NF1)

Autor: Maria E. Street, Paolo Piazza, Francesco Ferrozzi, E. Bacchini, M. Sigorini, Raffaele Virdis, Giulio Zuccoli, Maurizio Rossi

Publikováno v: American journal of medical genetics. 93(4)

In subjects with neurofibromatosis type 1 (NF1), we show that a reduction in the visual field is the most sensitive indicator of gliomas along the optic pathway. Therefore, we conclude that a visual field evaluation is the most sensitive clinical tes

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d6225d5ae58ff50e4a53c780e6572c7
https://pubmed.ncbi.nlm.nih.gov/11471182

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Oculo-auriculo-vertebral spectrum in Klinefelter syndrome

Autor: L, Garavelli, R, Virdis, A, Donadio, M, Sigorini, G, Banchini, P, Balestrazzi, J P, Fryns

Publikováno v: Genetic counseling (Geneva, Switzerland). 10(3)

We report a boy with classical 47,XXY Klinefelter syndrome (KS) and oculo-auriculo-vertebral spectrum (OAV). Two patients with KS and OAV were reported previously. Also, the combination of bilateral aplasia of the mandibular ramus and condyle and KS

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::6a526aab5b322dc48b8eef2960c16c15
https://pubmed.ncbi.nlm.nih.gov/10546106

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Neurofibromatosis type 1 and precocious puberty

Autor: M. Sigorini, Livia Garavelli, C Terzi, Maria E. Street, Raffaele Virdis, Francesco Pisani, A Donadio, E Lorenzetti, A Laiolo, A R Villani

Publikováno v: Scopus-Elsevier

Since neurofibromatosis type 1 (NF1) is a well known cause of precocious puberty (PP), we reviewed 412 NF1 pediatric patients to evaluate the prevalence of PP, the association with optic pathway tumors (OPT), and other clinical, auxological and hormo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29b853d597e52913025920b3d1c029e2
http://www.scopus.com/inward/record.url?eid=2-s2.0-0033850947&partnerID=MN8TOARS

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[Extracerebral neoplastic manifestations in neurofibromatosis 1: integrated diagnostic imaging]

Autor: F, Ferrozzi, G, Zuccoli, E, Bacchini, P, Piazza, M, Sigorini, R, Virdis

Publikováno v: Europe PubMed Central

To analyze the extracerebral manifestations of type 1 neurofibromatosis (NF-1), with special reference to peripheral nerve tumors.The findings of 376 NF-1 patients (194 men and 182 women; age range: 0.1-48 years, mean: 8.1) were retrospectively revie

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::143a7f45453e7e6b60bb89404d0976d3
http://europepmc.org/abstract/med/10189917

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