Giangiorgio Crisponi

Cagliari, 09042, Italy

Last Updated: 09/26/2026

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Found 14 publications

Do Rare Genetic Conditions Exhibit a Specific Phonotype? A Comprehensive Description of the Vocal Traits Associated with Crisponi/Cold-Induced Sweating Syndrome Type 1.

Do Rare Genetic Conditions Exhibit a Specific Phonotype? A Comprehensive Description of the Vocal Traits Associated with Crisponi/Cold-Induced Sweating Syndrome Type 1.

Journal: Genes

Published: June 24, 2025

Feeding and Nutritional Key Features of Crisponi/Cold-Induced Sweating Syndrome.

Feeding and Nutritional Key Features of Crisponi/Cold-Induced Sweating Syndrome.

Journal: Genes

Published: July 01, 2024

3MC syndrome: molecular findings in previously reported and milder patients expand the natural history and phenotypic spectrum.

3MC syndrome: molecular findings in previously reported and milder patients expand the natural history and phenotypic spectrum.

Journal: Clinical dysmorphology

Published: December 12, 2022

Dental management in a patient with Crisponi/cold-induced sweating syndrome type 1: a case report.

Dental management in a patient with Crisponi/cold-induced sweating syndrome type 1: a case report.

Journal: Clinical dysmorphology

Published: February 01, 2022

Genital anomalies in newborns.

Genital anomalies in newborns.

Journal: Journal of perinatology : official journal of the California Perinatal Association

Published: August 02, 2020

Anomalies of the oral cavity in newborns.

Anomalies of the oral cavity in newborns.

Journal: Journal of perinatology : official journal of the California Perinatal Association

Published: September 04, 2019

Crisponi/cold-induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts.

Crisponi/cold-induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts.

Journal: Clinical genetics

Published: June 20, 2019

Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnoses.

Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnoses.

Journal: Clinical genetics

Published: December 18, 2018

Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa.

Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa.

Journal: American journal of human genetics

Published: April 07, 2018

Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa.

Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa.

Journal: American journal of human genetics

Published: February 09, 2016

Warmth and nociceptive evoked potentials in cold-induced sweating syndrome type 1.

Warmth and nociceptive evoked potentials in cold-induced sweating syndrome type 1.

Journal: Muscle & nerve

Published: November 10, 2015

New mutations in DYNC2H1 and WDR60 genes revealed by whole-exome sequencing in two unrelated Sardinian families with Jeune asphyxiating thoracic dystrophy.

New mutations in DYNC2H1 and WDR60 genes revealed by whole-exome sequencing in two unrelated Sardinian families with Jeune asphyxiating thoracic dystrophy.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: October 12, 2015

Showing 1-12 of 14

Last Updated: 09/26/2026