Cartilage-hair hypoplasia--clinical manifestations in 108 Finnish patients
about
Evolutionary comparison provides evidence for pathogenicity of RMRP mutations.The inherited bone marrow failure syndromesSkeletal dysplasiasRMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphismsHand and foot abnormalities associated with genetic diseasesRNase MRP and diseaseRibosome biogenesis in skeletal development and the pathogenesis of skeletal disordersCartilage-hair hypoplasia.Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A-->G mutation of the untranslated RMRP.Hirschsprung disease, associated syndromes, and genetics: a review.Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia.Increased mortality in cartilage-hair hypoplasiaSyndromic immunodeficiencies: genetic syndromes associated with immune abnormalities.Caspase-8 Deficiency Presenting as Late-Onset Multi-Organ Lymphocytic Infiltration with Granulomas in two Adult SiblingsHigh-resolution linkage-disequilibrium mapping of the cartilage-hair hypoplasia gene.Long non-coding RNAs and cancer: a new frontier of translational research?Genetic heterogeneity in severe congenital neutropenia: how many aberrant pathways can kill a neutrophil?Small RNAs derived from lncRNA RNase MRP have gene-silencing activity relevant to human cartilage-hair hypoplasia.Do ribosomopathies explain some cases of common variable immunodeficiency?Viperin mRNA is a novel target for the human RNase MRP/RNase P endoribonuclease.Modern management of phagocyte defects.Cartilage-hair hypoplasia with normal height in childhood-4 patients with a unique genotype.Genetic changes in the RNA components of RNase MRP and RNase P in Schmid metaphyseal chondrodysplasiaLow segregation ratios in autosomal recessive disorders.Cartilage-hair hypoplasia: follow-up of immunodeficiency in two patients.Impaired spermatogenesis: an unrecognized feature of cartilage-hair hypoplasia.The major mutation in the RMRP gene causing CHH among the Amish is the same as that found in most Finnish cases.Clinical and molecular diagnosis of a cartilage-hair hypoplasia with IGF-1 deficiency.An infant with cartilage-hair hypoplasia due to a novel homozygous mutation in the promoter region of the RMRP gene associated with chondrodysplasia and severe immunodeficiency.Bone marrow transplantation for cartilage-hair-hypoplasia.Variable phenotype of severe immunodeficiencies associated with RMRP gene mutations.Clinical and genetic distinction of Schimke immuno-osseous dysplasia and cartilage-hair hypoplasia.
P2860
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P2860
Cartilage-hair hypoplasia--clinical manifestations in 108 Finnish patients
description
1993 nî lūn-bûn
@nan
1993 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի մարտին հրատարակված գիտական հոդված
@hy
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
name
Cartilage-hair hypoplasia--clinical manifestations in 108 Finnish patients
@ast
Cartilage-hair hypoplasia--clinical manifestations in 108 Finnish patients
@en
Cartilage-hair hypoplasia--clinical manifestations in 108 Finnish patients
@nl
type
label
Cartilage-hair hypoplasia--clinical manifestations in 108 Finnish patients
@ast
Cartilage-hair hypoplasia--clinical manifestations in 108 Finnish patients
@en
Cartilage-hair hypoplasia--clinical manifestations in 108 Finnish patients
@nl
prefLabel
Cartilage-hair hypoplasia--clinical manifestations in 108 Finnish patients
@ast
Cartilage-hair hypoplasia--clinical manifestations in 108 Finnish patients
@en
Cartilage-hair hypoplasia--clinical manifestations in 108 Finnish patients
@nl
P921
P356
P1476
Cartilage-hair hypoplasia--clinical manifestations in 108 Finnish patients
@en
P2093
P2888
P356
10.1007/BF01956147
P407
P577
1993-03-01T00:00:00Z
P6179
1052597021