SM Maricich, KA Aqeeb, Y Moayedi… - Journal of Child …, 2011 - jcn.sagepub.com Abstract The pontocerebellar hypoplasias are a heterogeneous group of rare and devastating conditions characterized by multiple structural abnormalities of the ventral pons, inferior olive, and cerebellum. Here, we briefly review these conditions and discuss genes ... Related articles - All 2 versions
JJ Barrott, GM Cash, AP Smith… - Proceedings of the …, 2011 - National Acad Sciences The Drosophila porcupine gene is required for secretion of wingless and other Wnt proteins, and sporadic mutations in its unique human ortholog, PORCN, cause a pleiotropic X-linked dominant disorder, focal dermal hypoplasia (FDH, also known as Goltz syndrome). We generated a ...
J Valero, S Blaser, BC Papsin, AL James… - Ear and …, 2011 - journals.lww.com Objectives: Hypoplasia of the auditory nerve (AN) refers to significant narrowing of the VIIIth cranial nerve which could compromise stimulation of the nerve by electrical pulses delivered from a cochlear implant (CI), thereby hindering activity in other parts of the auditory pathways. To ... Related articles - All 2 versions
Y Namavar, PG Barth, PR Kasher, F van Ruissen… - Brain, 2011 - Oxford Univ Press Pontocerebellar hypoplasia is a group of autosomal recessive neurodegenerative disorders with prenatal onset. The common characteristics are cerebellar hypoplasia with variable atrophy of the cerebellum and the ventral pons. Supratentorial involvement is reflected by variable ... Cited by 9 - Related articles - All 5 versions
MA de la Fuente, M Recher, NL Rider… - Journal of Allergy and …, 2011 - Elsevier Cartilage-hair hypoplasia (CHH) is characterized by metaphyseal dysplasia, bone marrow failure, increased risk of malignancies, and a variable degree of immunodeficiency. CHH is caused by mutations in the RNA component of the mitochondrial RNA processing (RMRP) ... Related articles - All 3 versions
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