Mosaic de novo SNRPN gene variant associated with Prader-Willi syndrome

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Chromosome 15 Imprinting Disorders: Genetic Laboratory Methodology and Approaches

(2020) Merlin G. Butler et al.   Frontiers in Pediatrics

TET3 prevents terminal differentiation of adult NSCs by a non-catalytic action at Snrpn

(2019) Raquel Montalbán-Loro et al.   Nature Communications

Molecular genetic classification in Prader-Willi syndrome: a multisite cohort study

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The autism-related gene SNRPN regulates cortical and spine development via controlling nuclear receptor Nr4a1

(2016) Huiping Li et al.   Scientific Reports

A girl with incomplete Prader-Willi syndrome and negative MS-PCR, found to have mosaic maternal UPD-15 at SNP array

(2015) Anita Morandi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Highly restricted deletion of the SNORD116 region is implicated in Prader–Willi Syndrome

(2014) Eric Bieth et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Small mosaic deletion encompassing the snoRNAs andSNURF-SNRPNresults in an atypical Prader-Willi syndrome phenotype

(2013) Britt-Marie Anderlid et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mouse models of Prader–Willi Syndrome: A systematic review

(2013) Sandrina Bervini et al.   FRONTIERS IN NEUROENDOCRINOLOGY

Nutritional phases in Prader-Willi syndrome

(2011) Jennifer L. Miller et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Methylation-Specific Multiplex Ligation-Dependent Probe Amplification and Identification of Deletion Genetic Subtypes in Prader-Willi Syndrome

(2011) Rebecca S. Henkhaus et al.   Genetic Testing and Molecular Biomarkers

The snoRNA MBII-52 (SNORD 115) is processed into smaller RNAs and regulates alternative splicing

(2010) Shivendra Kishore et al.   HUMAN MOLECULAR GENETICS

Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster

(2008) Trilochan Sahoo et al.   NATURE GENETICS