Publications by authors named "Chiara Gelmini"

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Mathematical skills in heritage bilingual children with and without developmental dyscalculia: A comparative study.
Paola Bonifacci, Marina Porrelli, Alessia Rapino, Anna Gallani, Carlotta Facini, Chiara Gelmini

Res Dev Disabil· December 2025

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ACT-ON-DIP: Study Protocol of a Randomized Controlled Trial of a Home-Based ACTion Observation Tele-RehabilitatioN for Upper Limb in Children with DIPlegic Cerebral Palsy.
Elena Beani, Elisa Matteucci, Elisa Sicola, Giada Martini, Maria Chiara Di Lieto, Chiara Gelmini

Children (Basel)· September 2025

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Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the Genes.
Irene Ambrosetti, Laura Bernardini, Marzia Pollazzon, Maria Grazia Giuffrida, Valentina Guida, Chiara Gelmini

Genes (Basel)· July 2023

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Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding.
Ilenia Maini, Edoardo Errichiello, Stefano Giuseppe Caraffi, Simonetta Rosato, Veronica Bizzarri, Chiara Gelmini

Neurogenetics· March 2021

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Complex cranio-vertebral malformation: disruption sequence or iniencephaly?
Marzia Pollazzon, Simonetta Rosato, Ivan Ivanovski, Chiara Gelmini, Gianna Bertani

Clin Dysmorphol· July 2018

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Cognitive-behavioural phenotype in a group of girls from 1.2 to 12 years old with the Incontinentia Pigmenti syndrome: Recommendations for clinical management.
Maria Rosa Pizzamiglio, Laura Piccardi, Filippo Bianchini, Loredana Canzano, Liana Palermo, Chiara Gelmini

Appl Neuropsychol Child· May 2018

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Van Maldergem syndrome and Hennekam syndrome: Further delineation of allelic phenotypes.
Ivan Ivanovski, Susan Akbaroghli, Marzia Pollazzon, Chiara Gelmini, Stefano Giuseppe Caraffi

Am J Med Genet A· May 2018

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Multiple sulfatase deficiency with neonatal manifestation.
Livia Garavelli, Lucia Santoro, Alexandra Iori, Giancarlo Gargano, Silvia Braibanti, Chiara Gelmini

Ital J Pediatr· December 2014

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Incontinentia pigmenti: learning disabilities are a fundamental hallmark of the disease.
Maria Rosa Pizzamiglio, Laura Piccardi, Filippo Bianchini, Loredana Canzano, Liana Palermo, Chiara Gelmini

PLoS One· October 2014

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Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC-C loci.
Livia Garavelli, Maria Rosaria Piemontese, Alberto Cavazza, Simonetta Rosato, Anita Wischmeijer, Chiara Gelmini

Am J Med Genet A· November 2013

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Focal dermal hypoplasia (Goltz-Gorlin syndrome): a new case with a novel variant in the PORCN gene (c.1250T>C:p.F417S) and unusual spinal anomaly.
Livia Garavelli, Graziella Simonte, Simonetta Rosato, Anita Wischmeijer, Enrico Albertini, Chiara Gelmini

Am J Med Genet A· July 2013

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Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype.
Duccio Maria Cordelli, Livia Garavelli, Salvatore Savasta, Azzurra Guerra, Alessandro Pellicciari, Chiara Gelmini

Am J Med Genet A· February 2013

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Simpson-Golabi-Behmel syndrome type 1 in a 27-week macrosomic preterm newborn: the diagnostic value of rib malformations and index nail and finger hypoplasia.
Livia Garavelli, Giancarlo Gargano, Graziella Simonte, Simonetta Rosato, Anita Wischmeijer, Chiara Gelmini

Am J Med Genet A· September 2012

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Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome and WNT7A mutations: genetic homogeneity and nosological delineation.
Livia Garavelli, Anita Wischmeijer, Simonetta Rosato, Chiara Gelmini, Sandro Reverberi

Am J Med Genet A· February 2011

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