Leopoldo Zelante

San Giovanni Rotondo, Italy

Last Updated: 09/26/2026

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Found 34 publications

Clinical and molecular characterization of a de novo 19p13.3 microdeletion.

Clinical and molecular characterization of a de novo 19p13.3 microdeletion.

Journal: Molecular cytogenetics

Published: April 18, 2016

A New Split Hand/Foot Malformation with Long Bone Deficiency Familial Case.

A New Split Hand/Foot Malformation with Long Bone Deficiency Familial Case.

Journal: Journal of pediatric genetics

Published: April 07, 2016

Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis.

Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis.

Journal: Journal of human genetics

Published: December 21, 2015

Detection of the first OCA6 Italian patient in a large cohort of albino subjects.

Detection of the first OCA6 Italian patient in a large cohort of albino subjects.

Journal: Journal of dermatological science

Published: October 31, 2015

De novo microduplication of CHL1 in a patient with non-syndromic developmental phenotypes.

De novo microduplication of CHL1 in a patient with non-syndromic developmental phenotypes.

Journal: Molecular cytogenetics

Published: July 21, 2015

Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1.

Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1.

Journal: Journal of endocrinological investigation

Published: February 05, 2015

Low prevalence of HNF1A mutations after molecular screening of multiple MODY genes in 58 Italian families recruited in the pediatric or adult diabetes clinic from a single Italian hospital.

Low prevalence of HNF1A mutations after molecular screening of multiple MODY genes in 58 Italian families recruited in the pediatric or adult diabetes clinic from a single Italian hospital.

Journal: Diabetes care

Published: November 22, 2014

Maternal uniparental isodisomy (iUPD) of chromosome 4 in a subject with mild intellectual disability and speech delay.

Maternal uniparental isodisomy (iUPD) of chromosome 4 in a subject with mild intellectual disability and speech delay.

Journal: American journal of medical genetics. Part A

Published: September 12, 2014

Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3.

Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3.

Journal: European journal of human genetics : EJHG

Published: July 11, 2014

A new case of de novo 6q24.2-q25.2 deletion on paternal chromosome 6 with growth hormone deficiency: a twelve-year follow-up and literature review.

A new case of de novo 6q24.2-q25.2 deletion on paternal chromosome 6 with growth hormone deficiency: a twelve-year follow-up and literature review.

Journal: BMC medical genetics

Published: June 24, 2014

Microdeletion of 12q24.31: report of a girl with intellectual disability, stereotypies, seizures and facial dysmorphisms.

Microdeletion of 12q24.31: report of a girl with intellectual disability, stereotypies, seizures and facial dysmorphisms.

Journal: American journal of medical genetics. Part A

Published: February 28, 2014

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.

Journal: Human molecular genetics

Published: January 02, 2014

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Last Updated: 09/26/2026