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Last Updated: 10/31/2025
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Found 82 publications
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.
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: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.
Journal: American journal of medical genetics. Part A
Published: December 15, 2021
Psychiatric Comorbidities in 1p36 Deletion Syndrome and Their Treatment-A Case Report.
Journal: International journal of environmental research and public health
Published: October 01, 2021
Noncongenital juvenile-onset bilateral lamellar cataract in 1p36 deletion syndrome.
Journal: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
Published: April 19, 2021
Last Updated: 10/31/2025