1p36 Deletion Syndrome Latest Advances

Two Cases of SPEN Haploinsufficiency Presenting with Dystonia: Expanding the Genotype and Phenotype.

Journal: Movement disorders clinical practice

Published: September 26, 2025

First Detection of 1p36 Deletion by Whole-Exome Sequencing in a Tunisian Patient.

Journal: Birth defects research

Published: September 19, 2025

Prenatally diagnosed chromosome 1p36 deletions: a retrospective case series, literature review, and genotype-phenotype correlations.

Journal: BMC medical genomics

Published: August 24, 2025

Ultrasound Phenotype, Genetic Analysis, and Pregnancy Outcomes of Fetuses With 1p36 Deletion Syndrome.

Journal: Molecular genetics & genomic medicine

Published: November 19, 2024

First-trimester application of expanded non-invasive prenatal testing in the genetic investigation of fetal 1p36 deletion syndrome associated with a familial unbalanced reciprocal translocation of 46,XX,der(1)t(1;2) (p36.2;q37.3)dmat.

Journal: Taiwanese journal of obstetrics & gynecology

Published: September 10, 2024

Clinical Features of a Japanese Girl With Radio-Tartaglia Syndrome due to a SPEN Truncating Variant.

Journal: American journal of medical genetics. Part A

Published: July 05, 2024

Prenatal diagnosis of a fetus with 1p36 deletion syndrome and 3p26.3p25.2 duplication

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: April 29, 2024

DNA methylation dysregulation patterns in the 1p36 region instability.

Journal: Journal of applied genetics

Published: March 27, 2024

Genetic Analysis of 1p36 Deletions for Six Aborted Fetuses.

Journal: Alternative therapies in health and medicine

Published: February 24, 2024

PRDM16 Deletion Is Associated With Sex-dependent Cardiomyopathy and Cardiac Mortality: A Translational, Multi-Institutional Cohort Study.

Journal: Circulation. Genomic and precision medicine

Published: July 03, 2023

Deletion in 1p36.33-p36.32 is associated with pancytopenia: a case report.

Journal: BMC medical genomics

Published: March 17, 2023

Abatacept as an alternative therapy for the treatment of drug-intolerant lupus nephritis: A case of underlying monosomy 1p36 deletion syndrome.

Journal: Clinical nephrology

Published: February 10, 2022

1p36 Deletion Syndrome Latest Advances

Find the Latest Research About 1p36 Deletion Syndrome

Two Cases of SPEN Haploinsufficiency Presenting with Dystonia: Expanding the Genotype and Phenotype.

Two Cases of SPEN Haploinsufficiency Presenting with Dystonia: Expanding the Genotype and Phenotype.

First Detection of 1p36 Deletion by Whole-Exome Sequencing in a Tunisian Patient.

First Detection of 1p36 Deletion by Whole-Exome Sequencing in a Tunisian Patient.

Prenatally diagnosed chromosome 1p36 deletions: a retrospective case series, literature review, and genotype-phenotype correlations.

Prenatally diagnosed chromosome 1p36 deletions: a retrospective case series, literature review, and genotype-phenotype correlations.

Ultrasound Phenotype, Genetic Analysis, and Pregnancy Outcomes of Fetuses With 1p36 Deletion Syndrome.

Ultrasound Phenotype, Genetic Analysis, and Pregnancy Outcomes of Fetuses With 1p36 Deletion Syndrome.

First-trimester application of expanded non-invasive prenatal testing in the genetic investigation of fetal 1p36 deletion syndrome associated with a familial unbalanced reciprocal translocation of 46,XX,der(1)t(1;2) (p36.2;q37.3)dmat.

First-trimester application of expanded non-invasive prenatal testing in the genetic investigation of fetal 1p36 deletion syndrome associated with a familial unbalanced reciprocal translocation of 46,XX,der(1)t(1;2) (p36.2;q37.3)dmat.

Clinical Features of a Japanese Girl With Radio-Tartaglia Syndrome due to a SPEN Truncating Variant.

Clinical Features of a Japanese Girl With Radio-Tartaglia Syndrome due to a SPEN Truncating Variant.

Prenatal diagnosis of a fetus with 1p36 deletion syndrome and 3p26.3p25.2 duplication

Prenatal diagnosis of a fetus with 1p36 deletion syndrome and 3p26.3p25.2 duplication

DNA methylation dysregulation patterns in the 1p36 region instability.

DNA methylation dysregulation patterns in the 1p36 region instability.

Genetic Analysis of 1p36 Deletions for Six Aborted Fetuses.

Genetic Analysis of 1p36 Deletions for Six Aborted Fetuses.

PRDM16 Deletion Is Associated With Sex-dependent Cardiomyopathy and Cardiac Mortality: A Translational, Multi-Institutional Cohort Study.

PRDM16 Deletion Is Associated With Sex-dependent Cardiomyopathy and Cardiac Mortality: A Translational, Multi-Institutional Cohort Study.

Deletion in 1p36.33-p36.32 is associated with pancytopenia: a case report.

Deletion in 1p36.33-p36.32 is associated with pancytopenia: a case report.

Abatacept as an alternative therapy for the treatment of drug-intolerant lupus nephritis: A case of underlying monosomy 1p36 deletion syndrome.

Abatacept as an alternative therapy for the treatment of drug-intolerant lupus nephritis: A case of underlying monosomy 1p36 deletion syndrome.