Diagnostic test for the Prader-Willi syndrome by SNRPN expression in blood

Author:

Wevrick Rachel,Francke Uta

Publisher

Elsevier BV

Subject

General Medicine

Reference11 articles.

1. Prader-Willi syndrome: consensus diagnostic criteria;Holm;Pediatrics,1993

2. Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients;Robinson;Am J Hum Genet,1991

3. Cytogenetic and molecular studies in the Prader-Willi and Angelman syndromes: an overview;Knoll;Am J Med Genet,1993

4. Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11–13): molecular diagnosis and mechanism of uniparental disomy;Mutirangura;Hum Mol Genet,1993

5. Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13;Dittrich;Hum Genet,1992

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2. An Atypical 15q11.2 Microdeletion Not Involving SNORD116 Resulting in Prader–Willi Syndrome;Case Reports in Genetics;2023-09-13

3. Using sno- lncRNAs as potential markers for Prader-Willi syndrome diagnosis;RNA Biology;2023-07-05

4. Prader-Willi Syndrome;Atlas of Genetic Diagnosis and Counseling;2017

5. Prader-Willi Syndrome;Atlas of Genetic Diagnosis and Counseling;2016

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