Clinical and hematologic aspects of the X-linked alpha-thalassemia/mental retardation syndrome (ATR-X).
about
Alpha thalassaemia-mental retardation, X linkedLocalization of a putative transcriptional regulator (ATRX) at pericentromeric heterochromatin and the short arms of acrocentric chromosomesThe ATRX-ADD domain binds to H3 tail peptides and reads the combined methylation state of K4 and K9Fragile X and X-linked intellectual disability: four decades of discoveryTranscriptional coregulators: emerging roles of SRC family of coactivators in disease pathologyDyrk1A potentiates steroid hormone-induced transcription via the chromatin remodeling factor Arip4Loss of ATRX does not confer susceptibility to osteoarthritisX-linked mental retardation (XLMR): from clinical conditions to cloned genes.Loss of ATRX in chondrocytes has minimal effects on skeletal developmentDecreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome.Arch fingerprints, hypotonia, and areflexia associated with X linked mental retardation.Protein complex of Drosophila ATRX/XNP and HP1a is required for the formation of pericentric beta-heterochromatin in vivoATRX has a critical and conserved role in mammalian sexual differentiationAngelman syndrome: mimicking conditions and phenotypes.Splitting and lumping in the nosology of XLMR.Molecular-clinical spectrum of the ATR-X syndrome.The first case of X-linked Alpha-thalassemia/mental retardation (ATR-X) syndrome in KoreaDefining the cause of skewed X-chromosome inactivation in X-linked mental retardation by use of a mouse modelA novel mutation in the putative DNA helicase XH2 is responsible for male-to-female sex reversal associated with an atypical form of the ATR-X syndromeAcquired haemoglobin H disease.α-Thalassemia, mental retardation, and myelodysplastic syndrome.Chromatin deregulation in disease.Genome-wide analysis for micro-aberrations in familial exstrophy of the bladder using array-based comparative genomic hybridization.Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndromeSyndromic disorder of sex development due to a novel hemizygous mutation in the carboxyl-terminal domain of ATRX.Glial and neuronal functions of the Drosophila homolog of the human SWI/SNF gene ATR-X (DATR-X) and the jing zinc-finger gene specify the lateral positioning of longitudinal glia and axons.Recovery from impaired muscle growth arises from prolonged postnatal accretion of myonuclei in Atrx mutant mice.A case report of two brothers with ATR-X syndrome due to low maternal frequency of somatic mosaicism for an intragenic deletion in the ATRX.Alpha-thalassemia/mental retardation syndrome, X-Linked (ATR-X, MIM #301040, ATR-X/XNP/XH2 gene MIM #300032).Prenatal diagnosis of ATR-X syndrome in a fetus with a new G>T splicing mutation in the XNP/ATR-X gene.X-linked mental retardation syndrome with short stature, small hands and feet, seizures, cleft palate, and glaucoma is linked to Xq28.X-linked mental retardation syndrome with characteristic "coarse" facial appearance, brachydactyly, and short stature maps to proximal Xq.Volvulus and bowel obstruction in ATR-X syndrome-clinical report and review of literature.Brothers with hypospadias, vertebral segmentation defects, and intellectual disability: new syndrome?Aspectos Moleculares da Determinação e Diferenciação SexualSmith-Lemli-Opitz syndrome: clinical and biochemical findings in Brazilian patients
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P2860
Clinical and hematologic aspects of the X-linked alpha-thalassemia/mental retardation syndrome (ATR-X).
description
1995 nî lūn-bûn
@nan
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
1995年论文
@zh
1995年论文
@zh-cn
name
Clinical and hematologic aspec ...... retardation syndrome (ATR-X).
@en
type
label
Clinical and hematologic aspec ...... retardation syndrome (ATR-X).
@en
prefLabel
Clinical and hematologic aspec ...... retardation syndrome (ATR-X).
@en
P2093
P356
P1476
Clinical and hematologic aspec ...... retardation syndrome (ATR-X).
@en
P2093
Clayton-Smith J
Davison BC
Gardner RJ
Gibbons RJ
Kingston HM
P304
P356
10.1002/AJMG.1320550309
P577
1995-01-01T00:00:00Z