SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant.
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RNA-binding proteins in eye development and disease: implication of conserved RNA granule componentsIdentifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis.PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal featuresWhole exome sequencing to identify genetic causes of short statureA novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans.Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes.Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.Deciphering the pathogenic consequences of chromosomal aberrations in human genetic disease.The effect of maternal diabetes on the Wnt-PCP pathway during embryogenesis as reflected in the developing mouse eye.BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies.Interpreting human genetic variation with in vivo zebrafish assays.Haploinsufficiency of the c-myc transcriptional repressor FIR, as a dominant negative-alternative splicing model, promoted p53-dependent T-cell acute lymphoblastic leukemia progression by activating Notch1.Copy number variation analysis identifies novel CAKUT candidate genes in children with a solitary functioning kidney.A t(5;16) translocation is the likely driver of a syndrome with ambiguous genitalia, facial dysmorphism, intellectual disability, and speech delay.Gene discovery and functional assessment of rare copy-number variants in neurodevelopmental disorders.Genetic, environmental, and epigenetic factors involved in CAKUT.De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.Development and dynamics of cell polarity at a glance.The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs.Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.Involvement of PUF60 in Transcriptional and Post-transcriptional Regulation of Hepatitis B Virus Pregenomic RNA ExpressionDominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature.Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability.Eye coloboma and complex cardiac malformations belong to the clinical spectrum of PUF60 variants.Survey of Human Chromosome 21 Gene Expression Effects on Early Development in Danio rerio.First fetal case of the 8q24.3 contiguous genes syndrome
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P2860
SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 17 October 2013
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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SCRIB and PUF60 are primary dr ...... he 8q24.3 copy-number variant.
@en
SCRIB and PUF60 are primary dr ...... he 8q24.3 copy-number variant.
@nl
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label
SCRIB and PUF60 are primary dr ...... he 8q24.3 copy-number variant.
@en
SCRIB and PUF60 are primary dr ...... he 8q24.3 copy-number variant.
@nl
prefLabel
SCRIB and PUF60 are primary dr ...... he 8q24.3 copy-number variant.
@en
SCRIB and PUF60 are primary dr ...... he 8q24.3 copy-number variant.
@nl
P2093
P2860
P50
P1476
SCRIB and PUF60 are primary dr ...... he 8q24.3 copy-number variant.
@en
P2093
Andrew Dauber
Bruno Leheup
Cécile Guenot
Danielle Martinet
Francine M Jodelka
Janice Zunich
Jill A Rosenfeld
Joel N Hirschhorn
Malgorzata J M Nowaczyk
Maria Kibaek
P2860
P304
P356
10.1016/J.AJHG.2013.09.010
P407
P577
2013-10-17T00:00:00Z