S
Sara Giangiobbe
Researcher at Vita-Salute San Raffaele University
Publications - 4
Citations - 27
Sara Giangiobbe is an academic researcher from Vita-Salute San Raffaele University. The author has contributed to research in topics: Wiedemann-Steiner syndrome & Ehlers–Danlos syndrome. The author has an hindex of 2, co-authored 4 publications receiving 14 citations. Previous affiliations of Sara Giangiobbe include Academy for Urban School Leadership.
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Journal ArticleDOI
Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)- B4GALT7 and Spondylodysplastic-EDS- B3GALT6
Stefano Giuseppe Caraffi,Ilenia Maini,Ivan Ivanovski,Ivan Ivanovski,Marzia Pollazzon,Sara Giangiobbe,Maurizia Valli,Antonio Rossi,Silvia Sassi,Silvia Faccioli,Maja Di Rocco,Cinzia Magnani,Belinda Campos-Xavier,Sheila Unger,Andrea Superti-Furga,Livia Garavelli +15 more
TL;DR: The extreme hypermobility of distal joints and the soft, doughy skin on the hands and feet are underline as features that may be useful as the first clues for a correct diagnosis of B4GALT7 and B3GALT6-related conditions.
Journal ArticleDOI
Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies.
Sara Giangiobbe,Stefano Giuseppe Caraffi,Ivan Ivanovski,Ilenia Maini,Marzia Pollazzon,Simonetta Rosato,Gabriele Trimarchi,Anna Lauriello,Maria Marinelli,Davide Nicoli,Chiara Baldo,Steven Laurie,Josue Flores-Daboub,Aldesia Provenzano,Elena Andreucci,Francesca Peluso,Renata Rizzo,Helen Stewart,Katherine Lachlan,Katherine Lachlan,Allan Bayat,Manuela Napoli,Giorgia Carboni,Janice Baker,Alyssa Mendel,Gianluca Piatelli,Chiara Pantaleoni,Teresa Mattina,Paolo Prontera,Nancy J. Mendelsohn,Sabrina Giglio,Orsetta Zuffardi,Livia Garavelli +32 more
TL;DR: By evaluating clinical and diagnostic imaging data, these anomalies, which consist primarily of fused cervical vertebrae, C1 and C2 abnormalities, small foramen magnum and Chiari malformation type I, are characterized.
Journal ArticleDOI
The fate of orally administered sialic acid: First insights from patients with N-acetylneuraminic acid synthase deficiency and control subjects
Christel Tran,Licia Turolla,Diana Ballhausen,Sandrine Cornaz Buros,Tony Teav,Hector Gallart-Ayala,Julijana Ivanisevic,Mohamed Faouzi,Dirk Lefeber,Ivan Ivanovski,Sara Giangiobbe,Stefano Giuseppe Caraffi,Livia Garavelli,Andrea Superti-Furga +13 more
TL;DR: In this article, Sialic acid supplementation for N-acetylneuraminic acid synthase (NANS) deficiency was evaluated in four adults and two children with NANS deficiency and four adult controls over three days.
Journal ArticleDOI
Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the CEP85L Gene: A Case Report and Refining of the Phenotypic Spectrum.
Gianluca Contrò,Alessia Micalizzi,Sara Giangiobbe,Stefano Giuseppe Caraffi,Roberta Zuntini,Simonetta Rosato,Marzia Pollazzon,Alessandra Terracciano,Manuela Napoli,Susanna Rizzi,Grazia Gabriella Salerno,Francesca Clementina Radio,Marcello Niceta,Elena Parrini,Carlo Fusco,Giancarlo Gargano,Renzo Guerrini,Marco Tartaglia,Antonio Novelli,Orsetta Zuffardi,Livia Garavelli +20 more
TL;DR: A 3-year-old boy with slightly delayed psychomotor development and mild dysmorphic features, including bitemporal narrowing, protruding ears with up-lifted lobes and posterior plagiocephaly was described in this article.