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1p36 Deletion Syndrome

Chromosome 1p36 Deletion Syndrome
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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "1p36 Deletion Syndrome" returned 2 free, full-text review articles. First 2 results:
Prenatal findings in 1p36 deletion syndrome: New cases and a literature review.
Last Updated: Jul 01, 2020

1p36 deletion syndrome is considered to be the most common deletion after 22q11.2 deletion. It is characterized by specific facial features, developmental delay, and organ defects. The primary objective of the present multicenter study was to survey all the cases of 1p36 deletion ...

Electroclinical features of epilepsy associated with 1p36 deletion syndrome: A review.
Last Updated: Dec 11, 2018

1p36 terminal deletion is a recently recognized syndrome with multiple congenital anomalies and intellectual disability. It occurs approximately in 1 out of 5000 to 10,000 live births and is the most common subtelomeric microdeletion observed in human. Medical problems commonly caused ...

[An updated review of 1p36 deletion (monosomy) syndrome].
Last Updated: Apr 04, 2017

The Monosomy 1p36 deletion syndrome is part of the group of diseases known as Rare Diseases. The objective of the present work is to review the characteristics of Monosomy 1p36 deletion syndrome. The monosomy 1p36 deletion syndrome phenotype includes: dysmorphic craniofacial features; ...

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2 Free Review Articles 7 Review Articles

Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "1p36 Deletion Syndrome" returned 0 free, full-text editorial articles. First 0 results:
No publications were found for this category.
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "1p36 Deletion Syndrome" returned 11 free, full-text research articles. First few results:
Cutis laxa in a patient with 1p36 deletion syndrome.
Last Updated: Oct 24, 2018

Chromosome 1p36 deletion is the most common subtelomeric deletion syndrome characterized by variable features including unique facial appearance, intellectual disability, developmental delay, cardiac defects, seizures and hypotonia. Here, we report a patient with developmental delay, ...

Abdominal paraganglioma in a young woman with 1p36 deletion syndrome.
Last Updated: Oct 24, 2017

1p36 deletion syndrome is the most common terminal deletion syndrome, and the genomic regions that contribute to specific 1p36 deletion syndrome-related phenotypes were recently identified. Deletions in the 1p36 region have been documented in various tumor tissues, which indicates ...

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11 Free Research Articles 36 Research Articles