Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 3 of 3 for “"XLID"”.
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Identificazione di una variante missenso nel gene RBM10 in una famiglia sarda con disabilità intellettiva X-linked
X-linked intellectual disability (XLID) is a heterogeneous disorder, and mutations causing monogenic XLID have now been reported in over 100 genes. We report a five-generation Sardinian family in which seven affected male family members had intellectual disability and craniofacial dysmorphisms. …
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Med12 Is A Critical Regulator of Neural Crest Lineage and Nervous System Myelination
… of Med12 recapitulated clinical observations in XLID (X-Linked Intellectual Disability) patients with Med12 loss-of-function mutations. In the present study, we establish the role of Med12 in 1) <em>de novo</em> myelin synthesis in the central nervous system, 2) myelin maintenance in the adult …
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Mechanism of CASK-linked ophthalmological disorders
… produce X-linked intellectual disability (XLID) and mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH, OMIM# 300749). CASK mutations are also frequently associated with optic nerve hypoplasia (ONH) which is the most common cause of childhood blindness in …