Ilenia Maini

Parma, 43121, Italy

Last Updated: 09/26/2026

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Found 12 publications

Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White-Sutton Syndrome: Case Report and Review of the Literature.

Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White-Sutton Syndrome: Case Report and Review of the Literature.

Journal: Genes

Published: May 25, 2021

Clinical Manifestations in a Girl with NAA10-Related Syndrome and Genotype-Phenotype Correlation in Females.

Clinical Manifestations in a Girl with NAA10-Related Syndrome and Genotype-Phenotype Correlation in Females.

Journal: Genes

Published: May 24, 2021

Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding.

Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding.

Journal: Neurogenetics

Published: June 15, 2020

Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies.

Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies.

Journal: American journal of medical genetics. Part A

Published: January 29, 2020

Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6.

Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6.

Journal: Genes

Published: August 30, 2019

A Novel CCND2 Mutation in a Previously Reported Case of Megalencephaly and Perisylvian Polymicrogyria with Postaxial Polydactyly and Hydrocephalus.

A Novel CCND2 Mutation in a Previously Reported Case of Megalencephaly and Perisylvian Polymicrogyria with Postaxial Polydactyly and Hydrocephalus.

Journal: Neuropediatrics

Published: April 12, 2018

Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11.

Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11.

Journal: American journal of medical genetics. Part A

Published: December 21, 2017

Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical features of 293 children with neurodevelopmental disorders and/or multiple congenital anomalies.

Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical features of 293 children with neurodevelopmental disorders and/or multiple congenital anomalies.

Journal: Italian journal of pediatrics

Published: August 21, 2017

Endocrinological Abnormalities Are a Main Feature of 17p13.1 Microduplication Syndrome: A New Case and Literature Review.

Endocrinological Abnormalities Are a Main Feature of 17p13.1 Microduplication Syndrome: A New Case and Literature Review.

Journal: Molecular syndromology

Published: August 23, 2016

Natural history and life-threatening complications in Myhre syndrome and review of the literature.

Natural history and life-threatening complications in Myhre syndrome and review of the literature.

Journal: European journal of pediatrics

Published: December 18, 2015

Expanding phenotype of PRRT2 gene mutations: A new case with epilepsy and benign myoclonus of early infancy.

Expanding phenotype of PRRT2 gene mutations: A new case with epilepsy and benign myoclonus of early infancy.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: October 22, 2015

Clinical and polygraphic improvement of breathing abnormalities after valproate in a case of Pitt-Hopkins syndrome.

Clinical and polygraphic improvement of breathing abnormalities after valproate in a case of Pitt-Hopkins syndrome.

Journal: Journal of child neurology

Published: March 02, 2012

Showing 1-12 of 12

Last Updated: 09/26/2026