Potocki-Lupski Syndrome Latest Advances

Journal: Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry

Published: September 29, 2023

Does the Potocki-Lupski Syndrome Convey the Autism Spectrum Disorder Phenotype? Case Report and Scoping Review.

Journal: Journal of personalized medicine

Published: December 28, 2022

A unique Smith-Magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed RAI1 allele.

Journal: European journal of human genetics : EJHG

Published: November 29, 2021

Potocki-Lupski Syndrome Dup17p11.2 in a Girl with Hypotonia and Early Behavioural Disturbances.

Journal: Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki)

Published: October 26, 2021

Prenatal Diagnosis of 17p11.2 Copy Number Abnormalities Associated With Smith-Magenis and Potocki-Lupski Syndromes in Fetuses.

Journal: Frontiers in genetics

Published: September 18, 2021

Potocki-Lupski Syndrome Latest Advances

Find the Latest Research About Potocki-Lupski Syndrome

Phenotypic description of a large French series of individuals with Potocki-Lupski syndrome.

Phenotypic description of a large French series of individuals with Potocki-Lupski syndrome.

Retinoic Acid-Induced 1 Gene and Neuropsychiatric Diseases: A Systematic Review.

Retinoic Acid-Induced 1 Gene and Neuropsychiatric Diseases: A Systematic Review.

DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective.

DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective.

Nonrecurrent 17p duplications in two patients with developmental and neurological abnormalities.

Nonrecurrent 17p duplications in two patients with developmental and neurological abnormalities.

The role of persistent right umbilical vein in the diagnosis of fetal genetic syndromes.

The role of persistent right umbilical vein in the diagnosis of fetal genetic syndromes.

Potocki-Lupski Syndrome in Ethiopian Child: A Case Report.

Potocki-Lupski Syndrome in Ethiopian Child: A Case Report.

Family case of Potocki-Lupski syndrome.

Family case of Potocki-Lupski syndrome.

Dental findings and intravenous sedation in a patient with Potocki-Lupski syndrome: A case report.

Dental findings and intravenous sedation in a patient with Potocki-Lupski syndrome: A case report.

Does the Potocki-Lupski Syndrome Convey the Autism Spectrum Disorder Phenotype? Case Report and Scoping Review.

Does the Potocki-Lupski Syndrome Convey the Autism Spectrum Disorder Phenotype? Case Report and Scoping Review.

A unique Smith-Magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed RAI1 allele.

A unique Smith-Magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed RAI1 allele.

Potocki-Lupski Syndrome Dup17p11.2 in a Girl with Hypotonia and Early Behavioural Disturbances.

Potocki-Lupski Syndrome Dup17p11.2 in a Girl with Hypotonia and Early Behavioural Disturbances.

Prenatal Diagnosis of 17p11.2 Copy Number Abnormalities Associated With Smith-Magenis and Potocki-Lupski Syndromes in Fetuses.

Prenatal Diagnosis of 17p11.2 Copy Number Abnormalities Associated With Smith-Magenis and Potocki-Lupski Syndromes in Fetuses.