about
Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutationDe novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients.Functional analysis of splicing mutations in exon 7 of NF1 geneCharacterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire.Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controlsHigh frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysisGenomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome.Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients.Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports.Developmental abnormalities and cancer predisposition in neurofibromatosis type 1.Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein-Taybi syndrome.Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients.Functional characterisation of a novel mutation affecting the catalytic domain of MMP2 in siblings with multicentric osteolysis, nodulosis and arthropathy.X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.SHOX duplications found in some cases with type I Mayer-Rokitansky-Kuster-Hauser syndrome.Somatic mosaicism in Cornelia de Lange syndrome: a further contributor to the wide clinical expressivity?Premature chromatid separation is not a useful diagnostic marker for Cornelia de Lange syndrome.Search for genomic imbalances in a cohort of 24 Cornelia de Lange patients negative for mutations in the NIPBL and SMC1L1 genes.Prenatal/neonatal pathology in two cases of Cornelia de Lange syndrome harboring novel mutations of NIPBL.Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum.Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotype.High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpoints.NF1 exon 7 skipping and sequence alterations in exonic splice enhancers (ESEs) in a neurofibromatosis 1 patient.Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene.Potential impact of fetal genotype on maternal blood pressure during pregnancyCervical spine malformation in cornelia de lange syndrome: A report of three patientsUnusual prenatal presentation of Rubinstein-Taybi syndrome: A case reportA novel mosaicNSD1intragenic deletion in a patient with an atypical phenotypeGermline mosaicism in cornelia de lange syndrome: Dilemmas and risk figuresA new report of Cornelia de Lange syndrome associated with split hand and feetCornelia de Lange syndrome: Extending the physical and psychological phenotypeUncommon Alu-mediated NF1 microdeletion with a breakpoint inside the NF1 geneTandem duplication of the NF1 gene detected by high-resolution FISH in the 17q11.2 regionIdentification of duplicated genes in 17q11.2 using FISH on stretched chromosomes and DNA fibersDNA Methylation in the Diagnosis of Monogenic DiseasesExploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disordersTranscriptome Analysis of iPSC-Derived Neurons from Rubinstein-Taybi Patients Reveals Deficits in Neuronal Differentiation
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description
hulumtuese
@sq
researcher
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wetenschapper
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հետազոտող
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name
Cristina Gervasini
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Cristina Gervasini
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Cristina Gervasini
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Cristina Gervasini
@es
Cristina Gervasini
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Cristina Gervasini
@nl
Cristina Gervasini
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type
label
Cristina Gervasini
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Cristina Gervasini
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Cristina Gervasini
@en
Cristina Gervasini
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Cristina Gervasini
@fr
Cristina Gervasini
@nl
Cristina Gervasini
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prefLabel
Cristina Gervasini
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Cristina Gervasini
@de
Cristina Gervasini
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Cristina Gervasini
@es
Cristina Gervasini
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Cristina Gervasini
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Cristina Gervasini
@sl
P1053
A-5728-2014
P106
P1153
6603173009
P21
P31
P3829
P496
0000-0002-1165-7935