Gabriella Clarich

Trieste, Italy

Last Updated: 09/26/2026

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Found 11 publications

A c.3037G>A mutation in FBN1 gene causing Marfan syndrome with an atypically severe phenotype.

A c.3037G>A mutation in FBN1 gene causing Marfan syndrome with an atypically severe phenotype.

Journal: Investigacion clinica

Published: March 01, 2017

A case of Beckwith-Wiedemann syndrome with peculiar dental findings.

A case of Beckwith-Wiedemann syndrome with peculiar dental findings.

Journal: European journal of paediatric dentistry

Published: January 04, 2017

Clinical and molecular study in a family with autosomal dominant hypohidrotic ectodermal dysplasia

Clinical and molecular study in a family with autosomal dominant hypohidrotic ectodermal dysplasia

Journal: Archivos argentinos de pediatria

Published: May 12, 2016

Clinical and molecular study in a child with X-linked hypohidrotic ectodermal dysplasia

Clinical and molecular study in a child with X-linked hypohidrotic ectodermal dysplasia

Journal: Archivos argentinos de pediatria

Published: April 20, 2015

A novel INDEL mutation in the EDA gene resulting in a distinct X- linked hypohidrotic ectodermal dysplasia phenotype in an Italian family.

A novel INDEL mutation in the EDA gene resulting in a distinct X- linked hypohidrotic ectodermal dysplasia phenotype in an Italian family.

Journal: Journal of the European Academy of Dermatology and Venereology : JEADV

Published: October 01, 2014

An evaluation of clinical, radiological and three-dimensional dental tomography findings in ectodermal dysplasia cases.

An evaluation of clinical, radiological and three-dimensional dental tomography findings in ectodermal dysplasia cases.

Journal: Medicina oral, patologia oral y cirugia bucal

Published: July 31, 2014

A case of cleidocranial dysplasia with peculiar dental features: pathogenetic role of the RUNX2 mutation and long term follow-up.

A case of cleidocranial dysplasia with peculiar dental features: pathogenetic role of the RUNX2 mutation and long term follow-up.

Journal: Oral health and dental management

Published: July 03, 2014

Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia.

Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia.

Journal: Journal of the European Academy of Dermatology and Venereology : JEADV

Published: March 20, 2014

Ear nose throat manifestations in hypoidrotic ectodermal dysplasia.

Ear nose throat manifestations in hypoidrotic ectodermal dysplasia.

Journal: International journal of pediatric otorhinolaryngology

Published: July 08, 2013

Turner's syndrome with mental retardation, microcephaly and type 1 diabetes in a 6 year old child. Case report and literature review.

Turner's syndrome with mental retardation, microcephaly and type 1 diabetes in a 6 year old child. Case report and literature review.

Journal: Minerva pediatrica

Published: April 25, 2013

Infantile bilateral glaucoma in a child with ectodermal dysplasia.

Infantile bilateral glaucoma in a child with ectodermal dysplasia.

Journal: Ophthalmic genetics

Published: March 21, 2012

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Last Updated: 09/26/2026