Correlations Phenotype / Genotype in Down Syndrome

Prenatal Molecular Characterisation by CGH+SNP-ARRAY of Supernumerary Marker Chromosomes and de Novo Apparently Balanced Reciprocal Translocations

NCT01907425 ·Status: TERMINATED ·Phase: NA

Genetic Markers and Biomarkers in Patients With Intellectual Disabilities of Genetic Origin

NCT05767203 ·Status: RECRUITING ·Phase: NA

Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes

NCT00004351 ·Status: COMPLETED

Screening for Chromosomal Microarrangements by CGH-array in Developmental Anomalies of the Skin Suggestive of Mosaicism.

NCT01950975 ·Status: COMPLETED ·Phase: NA

Search for Phenotype-modifying Genes in Patients With Intellectual Disabilities.

NCT06706934 ·Status: NOT_YET_RECRUITING

Primary Premature Ejaculation Genetics

NCT02109302 ·Status: COMPLETED ·Phase: NA

Nephronophthisis : Clinical and Genetic Study

NCT01022957 ·Status: COMPLETED ·Phase: NA

Result Of Karyotyping in Pediatric Patients With Congenital Anomalies and Developmental Delay

NCT07167017 ·Status: NOT_YET_RECRUITING

Risk of Recurrence of de Novo Mutations: Research and Quantification of Paternal Germinal Mosaicism by the Combined Use of Genomic Tools

NCT04564235 ·Status: COMPLETED ·Phase: NA

Microarray Analysis in Syndromic Obesity

NCT01043198 ·Status: COMPLETED ·Phase: NA

Genetics of Charcot Marie Tooth (CMT) - Modifiers of CMT1A, New Causes of CMT2

NCT01193088 ·Status: RECRUITING

The Contribution of Optical Mapping to the Characterization of Chromosomal Rearrangements in Patients With Neurodevelopmental Disorders

NCT07133789 ·Status: RECRUITING

Genetic Polymorphisms Associated With Vertebral Osteochondrosis

NCT04195529 ·Status: UNKNOWN

Identification of the Molecular and/or Pathophysiological Bases of Rare Diseases of Genetic Origin (or Rare Forms of Frequent Diseases Suspected of Being of Genetic Origin).

NCT03287193 ·Status: RECRUITING

Genetic Studies of Early-onset Dementia

NCT04906863 ·Status: RECRUITING

Better Delineation of DDX3X Related Phenotype and Epigenetic Signature.

NCT04436588 ·Status: UNKNOWN

Identification of Genomic Loci Determining Susceptibility to the Development of High Myopia

NCT02583620 ·Status: COMPLETED ·Phase: NA

Genetics of Mendelian Forms of Young Onset Alzheimer Disease

NCT01622894 ·Status: COMPLETED ·Phase: NA

Contribution of High-throughput Exome Sequencing in the Diagnosis of the Cause Fetal Polymalformation Syndromes

NCT02512354 ·Status: COMPLETED

Prospective Study to Assess Medical Performance of Optical Mapping and Long Read Sequencing in Detecting Numerical and Structural Chromosome Abnormalities

NCT05290051 ·Status: RECRUITING ·Phase: NA

Genome-wide Study for Disease Susceptibility Gene(s) in Patients With Hand Osteoarthritis

NCT01981265 ·Status: UNKNOWN

Evaluation of Rapid First-line Genome Sequencing for Prenatal Diagnosis of Congenital Malformations in Comparison With Chromosomal Microarray and Exome Sequencing

NCT06252415 ·Status: COMPLETED

Study of the Genetic Factors Involved in Autism and Related Disorders

NCT04727489 ·Status: RECRUITING

Phenotypic and Genotypic Characterisation of a Large, Multicentre Italian Cohort of 46, XY DSD Patients

NCT06723938 ·Status: RECRUITING

A Study to Compare Genetic Variations of IGF-I and IGF-II

NCT01329523 ·Status: COMPLETED