Cristina Cuoco

Genoa, 16147, Italy

Last Updated: 09/26/2026

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Found 20 publications

Interstitial de novo 18q22.3q23 deletion: clinical, neuroradiological and molecular characterization of a new case and review of the literature.

Interstitial de novo 18q22.3q23 deletion: clinical, neuroradiological and molecular characterization of a new case and review of the literature.

Journal: Molecular cytogenetics

Published: June 09, 2016

Hypogonadotropic hypogonadism in a trisomy X carrier: phenotype description and genotype correlation.

Hypogonadotropic hypogonadism in a trisomy X carrier: phenotype description and genotype correlation.

Journal: Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology

Published: November 18, 2015

Interstitial 11q24 deletion: a new case and review of the literature.

Interstitial 11q24 deletion: a new case and review of the literature.

Journal: Journal of applied genetics

Published: September 02, 2015

Interstitial 9p24.3 deletion involving only DOCK8 and KANK1 genes in two patients with non-overlapping phenotypic traits.

Interstitial 9p24.3 deletion involving only DOCK8 and KANK1 genes in two patients with non-overlapping phenotypic traits.

Journal: European journal of medical genetics

Published: June 03, 2015

Clinical and Molecular Cytogenetic Characterization of a de novo Interstitial 1p31.1p31.3 Deletion in a Boy with Moderate Intellectual Disability and Severe Language Impairment.

Clinical and Molecular Cytogenetic Characterization of a de novo Interstitial 1p31.1p31.3 Deletion in a Boy with Moderate Intellectual Disability and Severe Language Impairment.

Journal: Cytogenetic and genome research

Published: April 14, 2015

Clinical and molecular characterization of a patient with interstitial 6q21q22.1 deletion.

Clinical and molecular characterization of a patient with interstitial 6q21q22.1 deletion.

Journal: Molecular cytogenetics

Published: January 12, 2015

Clinico-radiological and molecular characterization of a child with ring chromosome 2 presenting growth failure, microcephaly, kidney and brain malformations.

Clinico-radiological and molecular characterization of a child with ring chromosome 2 presenting growth failure, microcephaly, kidney and brain malformations.

Journal: Molecular cytogenetics

Published: November 05, 2014

Concomitant deletion of chromosome 16p13.11 and triplication of chromosome 19p13.3 in a child with developmental disorders, intellectual disability, and epilepsy.

Concomitant deletion of chromosome 16p13.11 and triplication of chromosome 19p13.3 in a child with developmental disorders, intellectual disability, and epilepsy.

Journal: Molecular cytogenetics

Published: September 02, 2014

Clinical and molecular delineation of a 16p13.2p13.13 microduplication.

Clinical and molecular delineation of a 16p13.2p13.13 microduplication.

Journal: European journal of medical genetics

Published: July 21, 2014

Congenital aural atresia associated with agenesis of internal carotid artery in a girl with a FOXI3 deletion.

Congenital aural atresia associated with agenesis of internal carotid artery in a girl with a FOXI3 deletion.

Journal: American journal of medical genetics. Part A

Published: May 28, 2014

Heterozygous deletion of CHL1 gene: detailed array-CGH and clinical characterization of a new case and review of the literature.

Heterozygous deletion of CHL1 gene: detailed array-CGH and clinical characterization of a new case and review of the literature.

Journal: European journal of medical genetics

Published: May 23, 2014

Interstitial 7q31.1 copy number variations disrupting IMMP2L gene are associated with a wide spectrum of neurodevelopmental disorders.

Interstitial 7q31.1 copy number variations disrupting IMMP2L gene are associated with a wide spectrum of neurodevelopmental disorders.

Journal: Molecular cytogenetics

Published: May 09, 2014

Showing 1-12 of 20

Last Updated: 09/26/2026