about
New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 geneFamilial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome.Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological phenotypeConstitutional de novo deletion of the FBXW7 gene in a patient with focal segmental glomerulosclerosis and multiple primitive tumorsFrom Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks.Fetal cell microchimerism: a protective role in autoimmune thyroid diseases.ATRX mutation in two adult brothers with non-specific moderate intellectual disability identified by exome sequencing.Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomes.A new structural rearrangement associated to Wolfram syndrome in a child with a partial phenotype.A balanced reciprocal translocation t(10;15)(q22.3;q26.1) interrupting ACAN gene in a family with proportionate short stature.Generation of the Rubinstein-Taybi syndrome type 2 patient-derived induced pluripotent stem cell line (IAIi001-A) carrying the EP300 exon 23 stop mutation c.3829A > T, p.(Lys1277*)A novel mosaicNSD1intragenic deletion in a patient with an atypical phenotypeComplexde novochromosomal rearrangement at 15q11-q13 involving an intrachromosomal triplication in a patient with a severe neuropsychological phenotype: Clinical report and review of the literature
P50
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P50
description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Milena Crippa
@ast
Milena Crippa
@en
Milena Crippa
@es
Milena Crippa
@nl
Milena Crippa
@sl
type
label
Milena Crippa
@ast
Milena Crippa
@en
Milena Crippa
@es
Milena Crippa
@nl
Milena Crippa
@sl
prefLabel
Milena Crippa
@ast
Milena Crippa
@en
Milena Crippa
@es
Milena Crippa
@nl
Milena Crippa
@sl
P106
P1153
55158878900
P31
P496
0000-0003-1030-4609