Leopoldo Zelante

Casa Sollievo della Sofferenza — Italy

Biochemistry, Genetics and Molecular Biology · Life Sciences

57h-index13.0kcitations220works0.02yr avg
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Research Topics

Genomic variations and chromosomal abnormalities(28), Hearing, Cochlea, Tinnitus, Genetics(20), Amino Acid Enzymes and Metabolism(18), Folate and B Vitamins Research(14), Genomics and Rare Diseases(14)

Publications219 total

A New Split Hand/Foot Malformation with Long Bone Deficiency Familial Case
Journal of Pediatric Genetics·2016· 5 citedOpen Access
Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis
Journal of Human Genetics·2016· 40 citedOpen Access
Clinical and molecular characterization of a de novo 19p13.3 microdeletion
Molecular Cytogenetics·2016· 9 citedOpen Access
MICRODELETION OF 12q14.2q14.3 IN THREE MEMBERS OF A FAMILY DETECTED BY SNP-ARRAY ANALYSIS
日本人類遺伝学会大会プログラム・抄録集·2016
ある家族の3人のメンバーにおいて,SNPアレイによる12q14.2q14.3の微小欠失の検出
日本人類遺伝学会大会プログラム・抄録集·2016
Detection of the first OCA6 Italian patient in a large cohort of albino subjects
Journal of Dermatological Science·2015· 11 cited
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
BMC Medical Genetics·2015· 38 citedOpen Access
De novo microduplication of CHL1 in a patient with non-syndromic developmental phenotypes
Molecular Cytogenetics·2015· 23 citedOpen Access
Characterization of endocrine features and genotype–phenotypes correlations in blepharophimosis–ptosis–epicanthus inversus syndrome type 1
Journal of Endocrinological Investigation·2015· 21 cited
Maternal uniparental isodisomy (iUPD) of chromosome 4 in a subject with mild intellectual disability and speech delay
American Journal of Medical Genetics Part A·2015· 40 cited
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization
Bern Open Repository and Information System (University of Bern)·2015Open Access
Genomic and Genetic Disorders Biobank
Open Journal of Bioresources·2015· 1 citedOpen Access
Microdeletion of 12q24.31: Report of a girl with intellectual disability, stereotypies, seizures and facial dysmorphisms
American Journal of Medical Genetics Part A·2014· 70 cited
Low Prevalence of <i>HNF1A</i> 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
Diabetes Care·2014· 27 citedOpen Access
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3
European Journal of Human Genetics·2014· 111 citedOpen Access
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization
Nature Genetics·2014· 331 citedOpen Access
Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of<scp>K</scp>abuki Syndrome Patients
Human Mutation·2014· 103 citedOpen Access
Gene‐targeted deletion of <i>OPCML</i> and <i>Neurotrimin</i> in mice does not yield congenital heart defects
American Journal of Medical Genetics Part A·2014· 9 cited
<i>TBC1D7</i>Mutations are Associated with Intellectual Disability, Macrocrania, Patellar Dislocation, and Celiac Disease
Human Mutation·2014· 69 cited
Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2gene
BMC Medical Genetics·2014· 13 citedOpen Access
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Frequent Co-authors

Paolo Gasparini(23), Luigi Bisceglia(13), Xavier Estivill(11), Salvatore Melchionda(10), Massimo Carella(10), Leonardo D’Agruma(6), António Zorzano(6), Matteo Della Monica(5), Virginia Nunes(5), Raquel Rabionet(4), Michele Gallucci(4), F. Rousaud(4), Bruno Dallapiccola(4), Manuel Palacı́n(4), Antonio Totaro(4), Lucia Micale(4), Bartolomeo Augello(4), Giuseppe Merla(4), Mariano Rocchi(3), Paolo Fortina(3)