Article
Validation and application of a novel integrated genetic screening method to a cohort of 1,112 men with idiopathic azoospermia or severe oligozoospermia.
Human mutation - 1 Nov 2017
Oud Manon S, Ramos Liliana, O'Bryan Moira K, McLachlan Robert I, Okutman Özlem, Viville Stephane, de Vries Petra F, Smeets Dominique F C M, Lugtenberg Dorien, Hehir-Kwa Jayne Y, Gilissen Christian, van de Vorst Maartje, Vissers Lisenka E L M, Hoischen Alexander, Meijerink Aukje M, Fleischer Kathrin, Veltman Joris A, Noordam Michiel J
Abstract excerpt
Microdeletions of the Y chromosome (YCMs), Klinefelter syndrome (47,XXY), and CFTR mutations are known genetic causes of severe male infertility, but the majority of cases remain idiopathic. Here, we describe a novel method using single molecule Molecular Inversion Probes (smMIPs), to screen infertile men for mutations and copy number variations affecting known disease genes. We designed a set of 4,525 smMIPs...
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