Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene.
about
Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromesRubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and managementDisorders of Transcriptional Regulation: An Emerging Category of Multiple Malformation SyndromesUltra-Rare Syndromes: The Example of Rubinstein-Taybi SyndromeMeta-Analysis of Placental Transcriptome Data Identifies a Novel Molecular Pathway Related to PreeclampsiaRubinstein-Taybi Syndrome Associated with Pituitary Macroadenoma: A Case Report.Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire.Whole exome sequencing for a patient with Rubinstein-Taybi syndrome reveals de novo variants besides an overt CREBBP mutation.Autism Linked to Increased Oncogene Mutations but Decreased Cancer Rate.First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant.FGFR2 mutation in 46,XY sex reversal with craniosynostosisWhole exome sequencing reveals EP300 mutation in mildly affected female: expansion of the spectrum.Lysine Acetylation and Deacetylation in Brain Development and NeuropathiesFrom Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks.Anaesthetic Management of Children with Rubinstein-Taybi SyndromeMosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes.Exome Sequencing Identification of EP300 Mutation in a Proband with Coloboma and Imperforate Anus: Possible Expansion of the Phenotypic Spectrum of Rubinstein-Taybi Syndrome.CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndrome.Epigenetic Etiology of Intellectual Disability.Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis.Cognitive analysis of schizophrenia risk genes that function as epigenetic regulators of gene expression.Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum.Expanding the role of the splicing USB1 gene from Poikiloderma with Neutropenia to acquired myeloid neoplasms.Benign and malignant tumors in Rubinstein-Taybi syndrome.Common and Rare Genetic Risk Factors Converge in Protein Interaction Networks Underlying Schizophrenia
P2860
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P2860
Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene.
description
2014 nî lūn-bûn
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2014年の論文
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2014年学术文章
@wuu
2014年学术文章
@zh-cn
2014年学术文章
@zh-hans
2014年学术文章
@zh-my
2014年学术文章
@zh-sg
2014年學術文章
@yue
2014年學術文章
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2014年學術文章
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name
Clinical and molecular charact ...... l mutations of the EP300 gene.
@en
Clinical and molecular charact ...... l mutations of the EP300 gene.
@nl
type
label
Clinical and molecular charact ...... l mutations of the EP300 gene.
@en
Clinical and molecular charact ...... l mutations of the EP300 gene.
@nl
prefLabel
Clinical and molecular charact ...... l mutations of the EP300 gene.
@en
Clinical and molecular charact ...... l mutations of the EP300 gene.
@nl
P2093
P2860
P50
P356
P1433
P1476
Clinical and molecular charact ...... l mutations of the EP300 gene.
@en
P2093
A Selicorni
L Consonni
M Della Monica
P2860
P304
P356
10.1111/CGE.12348
P577
2014-02-17T00:00:00Z