Výsledky vyhledávání - "Annamaria, Salpietro"

Radiological Features of Joubert's Syndrome

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

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An Overview of Genes Involved in the Pure Joubert Syndrome and in Joubert Syndrome-Related Disorders (JSRD)

Autor: Maria Amorini, Giulia Iapadre, Alessio Mancuso, Ida Ceravolo, Giovanni Farello, Annarita Scardamaglia, Simone Gramaglia, Antonio Ceravolo, Annamaria Salpietro, Caterina Cuppari

Publikováno v: Journal of Pediatric Neurology. 21:023-032

Joubert syndrome (JS) is a rare autosomal recessive disease characterized by a peculiar brain malformation, hypotonia, ataxia, developmental delay, abnormal eye movements, and neonatal breathing abnormalities. This picture is often associated with va

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9481b40701f79a2bef52013a544ff402
https://doi.org/10.1055/s-0042-1760242

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A Brief Focus on Joubert Syndrome and Related Acute Complications

Autor: Sara Manti, Eloisa Gitto, Ida Ceravolo, Alessio Mancuso, Antonio Ceravolo, Annamaria Salpietro, Giovanni Farello, Roberto Chimenz, Giulia Iapadre, Francesco Battaglia, Caterina Cuppari

Publikováno v: Journal of Pediatric Neurology. 21:003-007

Joubert syndrome (JS) and related disorders are a group of congenital anomalies syndromes in which the obligatory hallmark is the molar tooth sign, a complex midbrain–hindbrain malformation. Moreover, JS may be associated with multiorgan involvemen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9d40bf52aae2f8674410a427a3851ec4
https://doi.org/10.1055/s-0042-1760240

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Ciliopathies: Genetic Counseling

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

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Joubert Syndrome with Oral-Facial-Digital Defect ({JS}-{OFD}): A Brief Overview on Clinics and Genetics

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

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