Genotype-phenotype correlations in patients with retinoblastoma and interstitial 13q deletions.
about
A Comprehensive Review of Pediatric Tumors and Associated Cancer Predisposition Syndromes.Multipoint genome-wide linkage scan for nonword repetition in a multigenerational family further supports chromosome 13q as a locus for verbal trait disorders.Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion.Massively parallel sequencing reveals an accumulation of de novo mutations and an activating mutation of LPAR1 in a patient with metastatic neuroblastomaSystematic identification of phenotypically enriched loci using a patient network of genomic disordersFine mapping of whole RB1 gene deletions in retinoblastoma patients confirms PCDH8 as a candidate gene for psychomotor delay.Participation in an occupational therapy referral program for children with retinoblastoma.De novo 13q13.3-21.31 deletion involving RB1 gene in a patient with hemangioendothelioma of the liver.Management of retinoblastoma: opportunities and challenges.The survival gene MED4 explains low penetrance retinoblastoma in patients with large RB1 deletion.Patients with retinoblastoma and chromosome 13q deletions have increased chemotherapy-related toxicities.Risk for congenital anomalies in offspring of childhood, adolescent and young adult cancer survivors.Modeling Developmental and Tumorigenic Aspects of Trilateral Retinoblastoma via Human Embryonic Stem Cells.Targeting Notch signaling as a novel therapy for retinoblastoma.Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia.Retinoblastoma protein controls growth, survival and neuronal migration in human cerebral organoids.The Interdisciplinary Diagnosis and Treatment of Intraocular Tumors.
P2860
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P2860
Genotype-phenotype correlations in patients with retinoblastoma and interstitial 13q deletions.
description
2011 nî lūn-bûn
@nan
2011 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Genotype-phenotype correlation ...... nd interstitial 13q deletions.
@ast
Genotype-phenotype correlation ...... nd interstitial 13q deletions.
@en
type
label
Genotype-phenotype correlation ...... nd interstitial 13q deletions.
@ast
Genotype-phenotype correlation ...... nd interstitial 13q deletions.
@en
prefLabel
Genotype-phenotype correlation ...... nd interstitial 13q deletions.
@ast
Genotype-phenotype correlation ...... nd interstitial 13q deletions.
@en
P2093
P2860
P50
P356
P1476
Genotype-phenotype correlation ...... and interstitial 13q deletions
@en
P2093
Artur Muradyan
Deniz Kanber
Dietmar Lohmann
Ludger Klein-Hitpass
Reinhard Ullmann
P2860
P2888
P304
P356
10.1038/EJHG.2011.58
P577
2011-04-20T00:00:00Z