Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Maria Domenica Ceravolo"'
Autor:
Giovanni Stroscio, Caterina Cuppari, Maria Domenica Ceravolo, Annamaria Salpietro, Francesco Battaglia, Alessia Sallemi, Monica Fusco, Antonio Ceravolo, Giulia Iapadre, Elisa Calì, Daniela Impollonia, Francesca Granata
Publikováno v:
Journal of Pediatric Neurology. 21:073-077
Joubert syndrome (JS) is a rare autosomal recessive disorder. All patients affected by this syndrome presented a characteristic picture of cranial fossa malformations, called “molar tooth sign.” This sign is defined by the presence in axial secti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2a9e21eb947a46d6f26e907841a86ad2
https://doi.org/10.1055/s-0042-1760241
https://doi.org/10.1055/s-0042-1760241
Autor:
Caterina Cuppari, Ida Ceravolo, Alessio Mancuso, Giovanni Farello, Giulia Iapadre, Luca Zagaroli, Giuliana Nanni, Maria Domenica Ceravolo
Publikováno v:
Journal of Pediatric Neurology. 21:053-057
The follow-up of a child with genetic syndrome is necessarily multidisciplinary because of the multiplicity of problems and calls for close collaboration between different specialists. The primary objective is the total care of the child and his fami
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6eaab9f0f868f028a599c14da3be7538
https://doi.org/10.1055/s-0042-1759532
https://doi.org/10.1055/s-0042-1759532
Autor:
Giovanni Conti, Giovanni Farello, Maria Domenica Ceravolo, Monica Fusco, Caterina Cuppari, Alessio Mancuso, Ida Ceravolo, Emanuele David, Giulia Iapadre, Giovanna Scorrano, Maria Francesca Fiorile, Roberto Chimenz
Publikováno v:
Journal of Pediatric Neurology. 21:049-052
Twenty-five to 30% of patients with Joubert syndrome (JS) have renal involvement. Two forms of renal disease (RD) have traditionally been described. The less common form is the Dekaban–Arima syndrome, a JS RD that includes congenital blindness and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db432be09ee53a6f5b85430930f64503
https://doi.org/10.1055/s-0042-1759541
https://doi.org/10.1055/s-0042-1759541
Autor:
Giorgia Ceravolo, Tommaso La Macchia, Caterina Cuppari, Valeria Dipasquale, Antonella Gambadauro, Celeste Casto, Maria Domenica Ceravolo, Maricia Cutrupi, Maria Pia Calabrò, Paola Borgia, Gianluca Piccolo, Alessio Mancuso, Remo Albiero, Roberto Chimenz
Publikováno v:
Children, Vol 8, Iss 7, p 528 (2021)
Cardiorenal syndrome (CRS) is defined as a disorder resulting from the abnormal interaction between the heart and kidney, in which acute or chronic dysfunction of one organ may lead to acute and/or chronic dysfunction of the other. The functional int
Externí odkaz:
https://doaj.org/article/201b2f8ab6eb4aad8a933323cefc2531
Autor:
Caterina Cuppari, Annamaria Salpietro, Ida Ceravolo, Giulia Iapadre, Monica Fusco, Alessia Sallemi, Alessio Mancuso, Giovanni Farello, Maria Domenica Ceravolo
Publikováno v:
Journal of Pediatric Neurology. 21:041-043
Joubert syndrome (JS) follows autosomal recessive inheritance, with rare X-linked recessive cases. The disease is genetically heterogeneous with neurological features associated with multiorgan involvement (e.g., retinal dystrophy, nephronophthisis,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4f1a517374bf7a21917c56a36c104aa
https://doi.org/10.1055/s-0042-1759515
https://doi.org/10.1055/s-0042-1759515
Autor:
Antonella Riva, Antonella Gambadauro, Valeria Dipasquale, Celeste Casto, Maria Domenica Ceravolo, Andrea Accogli, Marcello Scala, Giorgia Ceravolo, Michele Iacomino, Federico Zara, Pasquale Striano, Caterina Cuppari, Gabriella Di Rosa, Maria Concetta Cutrupi, Vincenzo Salpietro, Roberto Chimenz
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 9, p 4471 (2021)
Microphthalmia, anophthalmia, and coloboma (MAC) are a group of congenital eye anomalies that can affect one or both eyes. Patients can present one or a combination of these ocular abnormalities in the so called “MAC spectrum”. The KIF17 gene enc
Externí odkaz:
https://doaj.org/article/18d935bf736340a09615435c56d75318
Autor:
Caterina Cuppari, Annamaria Salpietro, Roberto Chimenz, Laura Colavita, Maria Domenica Ceravolo, Eloisa Gitto, Alessia Sallemi, Monica Fusco, Ida Ceravolo, Giovanni Farello, Giulia Iapadre, Clarissa Rocca, Ainara Salazar, Alessio Mancuso
Joubert's syndrome with digital facial oral defects represents a rare subgroup of Joubert's syndrome with related disorders. There are 11 forms of oral-facial-digital syndromes and are characterized by having neurological signs of JS associated with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d22f0207cd810c17a44ad197d974e5f1
https://hdl.handle.net/11697/197643
https://hdl.handle.net/11697/197643
Autor:
Ida Ceravolo, Francesca Granata, Eloisa Gitto, Giulia Iapadre, Roberto Chimenz, Nino Giannitto, Alessio Mancuso, Maria Domenica Ceravolo, Tommaso La Macchia, Federico Rissotto, Giovanni Farello, Caterina Cuppari
Joubert syndrome (JS) is a rare genetic condition characterized by congenital malformation of the mid-hindbrain, cerebellar ataxia, hypotonia, oculomotor apraxia, hypoplasia of the cerebellar vermis resulting in breathing defects, ataxia, and delayed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37c1aac1156a363191f98d5582d87d64
https://hdl.handle.net/11697/197635
https://hdl.handle.net/11697/197635
Autor:
Tommaso La Macchia, Alessio Mancuso, Maria Domenica Ceravolo, Caterina Cuppari, Roberto Chimenz, Giovanni Farello, Eloisa Gitto, Giulia Iapadre, Ida Ceravolo
Alström syndrome (AS) is a rare multisystem disorder characterized by cone-rod retinal dystrophy leading to vision loss, hearing deficiency, obesity, type 2 diabetes mellitus, and insulin resistance with hyperinsulinemia. The conditions include dila
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::694d7f9011d8a25c4ac63873e51954d6
https://hdl.handle.net/11697/197637
https://hdl.handle.net/11697/197637
Autor:
Antonella, Riva, Antonella, Gambadauro, Valeria, Dipasquale, Celeste, Casto, Maria Domenica, Ceravolo, Andrea, Accogli, Marcello, Scala, Giorgia, Ceravolo, Michele, Iacomino, Federico, Zara, Pasquale, Striano, Caterina, Cuppari, Gabriella, Di Rosa, Maria Concetta, Cutrupi, Vincenzo, Salpietro, Roberto, Chimenz
Publikováno v:
International Journal of Molecular Sciences
Microphthalmia, anophthalmia, and coloboma (MAC) are a group of congenital eye anomalies that can affect one or both eyes. Patients can present one or a combination of these ocular abnormalities in the so called “MAC spectrum”. The KIF17 gene enc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::859b125730460b1ec4ce08f2a34d9637
https://pubmed.ncbi.nlm.nih.gov/33922911
https://pubmed.ncbi.nlm.nih.gov/33922911