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Fulgent Genetics
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Nextera AS
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Image Search Results
Journal: The Journal of Clinical Endocrinology and Metabolism
Article Title: Heterozygous Deletions in MKRN3 Cause Central Precocious Puberty Without Prader-Willi Syndrome
doi: 10.1210/clinem/dgaa331
Figure Lengend Snippet: Families with MKRN3 deletions. Squares, male; circles, female. Filled symbols denote CPP phenotype; black center dots indicate unaffected carriers based on genotype; blank symbols denote unaffected individuals with normal or unknown genotype. Abbreviations: WT, wild type; -, deletion of locus: left, MKRN3; right, 15q11.2 locus containing MKRN3, MAGEL2, and NDN.
Article Snippet: DNAs from 15 (n = 15 of 16; 93.8%) probands were sent for a custom panel of
Techniques:
Journal: The Journal of Clinical Endocrinology and Metabolism
Article Title: Heterozygous Deletions in MKRN3 Cause Central Precocious Puberty Without Prader-Willi Syndrome
doi: 10.1210/clinem/dgaa331
Figure Lengend Snippet: Peripheral blood qPCR results for Family A: proband (III.1); father (II.1); paternal grandmother (I.2). Genomic DNA expression values are shown for 3 different MKRN3 primer sets (MKRN3-E1, MKRN3-E1B, and MKRN3-E1C) and control chromosomes (Autosomal [AC] and X chromosome [XC]), expressed as quantity relative to female control DNA (each graph, right).
Article Snippet: DNAs from 15 (n = 15 of 16; 93.8%) probands were sent for a custom panel of
Techniques: Expressing, Control
Journal: The Journal of Clinical Endocrinology and Metabolism
Article Title: Heterozygous Deletions in MKRN3 Cause Central Precocious Puberty Without Prader-Willi Syndrome
doi: 10.1210/clinem/dgaa331
Figure Lengend Snippet: Summary of published deletions in PWS-imprinting center region on chromosome 15. Dotted lines represent the borders of the MKRN3 locus. Shaded grey regions in bars represent the coordinates of published deletions. Left side: letter (present study, bold) or number (references cited) assigned to each case; right side: diagnoses published; bottom: scale indicating chromosome 15 position, band, with genes involved below (GRCh37/hg19). Abbreviations: CPP, central precocious puberty; PWS, Prader-Willi syndrome; Chr, chromosome.
Article Snippet: DNAs from 15 (n = 15 of 16; 93.8%) probands were sent for a custom panel of
Techniques: