Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome
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Neurodegeneration with brain iron accumulation: diagnosis and managementThe Warsaw breakage syndrome-related protein DDX11 is required for ribosomal RNA synthesis and embryonic developmentGenetics of neurodegeneration with brain iron accumulationGenetics and genomic medicine in Saudi ArabiaLate-onset neurodegeneration with brain iron accumulation with diffusion tensor magnetic resonance imagingNeurodegeneration with brain iron accumulation: an overview.Secondary dystonia-clinical clues and syndromic associationsHaploinsufficiency of Dmxl2, encoding a synaptic protein, causes infertility associated with a loss of GnRH neurons in mouseA diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging.The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati SyndromeOn the complexity of clinical and molecular bases of neurodegeneration with brain iron accumulation.Review: Insights into molecular mechanisms of disease in neurodegeneration with brain iron accumulation: unifying theories.The genetics of dystonias.Homozygosity mapping: one more tool in the clinical geneticist's toolbox.To grow or not to grow: hair morphogenesis and human genetic hair disordersNeuroimaging features of neurodegeneration with brain iron accumulation.Hypogonadism and neurological diseases.Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature.Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force.Pharmacological AMP kinase activators target the nucleolar organization and control cell proliferation.Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome.Novel compound heterozygous frameshift mutations of C2orf37 in a familial Indian case of Woodhouse-Sakati syndrome.Adaptation and possible ancient interspecies introgression in pigs identified by whole-genome sequencing.Woodhouse-Sakati Syndrome: Report of the First Tunisian Family with the C2orf37 Gene Mutation.Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability.Functional Characterization of Rare RAB12 Variants and Their Role in Musician's and Other Dystonias.The syndrome of deafness-dystonia: clinical and genetic heterogeneity.Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome.Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye.Deletion of DDB1- and CUL4- associated factor-17 (Dcaf17) gene causes spermatogenesis defects and male infertility in mice.Newly recognized recessive syndrome characterized by dysmorphic features, hypogonadotropic hypogonadism, severe microcephaly, and sensorineural hearing loss maps to 3p21.3
P2860
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P2860
Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome
description
2008 nî lūn-bûn
@nan
2008 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Mutations in C2orf37, encoding ...... n, and extrapyramidal syndrome
@ast
Mutations in C2orf37, encoding ...... n, and extrapyramidal syndrome
@en
Mutations in C2orf37, encoding ...... n, and extrapyramidal syndrome
@nl
type
label
Mutations in C2orf37, encoding ...... n, and extrapyramidal syndrome
@ast
Mutations in C2orf37, encoding ...... n, and extrapyramidal syndrome
@en
Mutations in C2orf37, encoding ...... n, and extrapyramidal syndrome
@nl
prefLabel
Mutations in C2orf37, encoding ...... n, and extrapyramidal syndrome
@ast
Mutations in C2orf37, encoding ...... n, and extrapyramidal syndrome
@en
Mutations in C2orf37, encoding ...... n, and extrapyramidal syndrome
@nl
P2093
P2860
P3181
P1476
Mutations in C2orf37, encoding ...... n, and extrapyramidal syndrome
@en
P2093
Abdulaziz Al-Semari
Amr Al-Saif
Anas M Alazami
Andy Baltus
Borut Peterlin
Brian Meyer
Christopher A Walsh
Dilek Colak
Fatema Alzahrani
Futwan Al-Mohanna
P2860
P304
P3181
P356
10.1016/J.AJHG.2008.10.018
P407
P577
2008-12-01T00:00:00Z