0000000000515948
AUTHOR
Andrea Riccio
showing 14 related works from this author
Additional file 9 of Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with m…
2020
Additional file 9: Table S5. Primers used for pyrosequencing analysis.
Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting…
2020
Abstract Background PADI6 is a component of the subcortical maternal complex, a group of proteins that is abundantly expressed in the oocyte cytoplasm, but is required for the correct development of early embryo. Maternal-effect variants of the subcortical maternal complex proteins are associated with heterogeneous diseases, including female infertility, hydatidiform mole, and imprinting disorders with multi-locus imprinting disturbance. While the involvement of PADI6 in infertility is well demonstrated, its role in imprinting disorders is less well established. Results We have identified by whole-exome sequencing analysis four cases of Beckwith-Wiedemann syndrome with multi-locus imprintin…
Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: An international consensus statement
2018
Beckwith-Wiedemann syndrome (BWS), a human genomic imprinting disorder, is characterized by phenotypic variability that might include overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycaemia, lateralized overgrowth and predisposition to embryonal tumours. Delineation of the molecular defects within the imprinted 11p15.5 region can predict familial recurrence risks and the risk (and type) of embryonal tumour. Despite recent advances in knowledge, there is marked heterogeneity in clinical diagnostic criteria and care. As detailed in this Consensus Statement, an international consensus group agreed upon 72 recommendations for the clinical and molecular diagnosis and management …
Perlman syndrome: Clinical report and nine-year follow-up
2005
We present the clinical and follow-up data of a female infant with Perlman syndrome from birth to the age of 9 years. Main features of Perlman syndrome include polyhydramnios, fetal overgrowth, neonatal macrosomia, macrocephaly, dysmorphic facial features, visceromegaly, nephroblastomatosis, and a predisposition for Wilm's tumor. In our patient, the nephromegaly with nephroblastomatosis was not present at birth or during the neonatal period; it became evident in the first months of postnatal life. A Wilm's tumor was diagnosed when she was about 1 year old. Long term follow-up documents the natural history of Perlman syndrome and allows us to establish the long-term prognosis of the affected…
Additional file 2 of Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with m…
2020
Additional file 2: Figure S1. Pyrosequencing analysis of seven imprinted DMRs.
Additional file 3 of Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with m…
2020
Additional file 3 Figure S2. Batch effect adjustment of array datasets.
Additional file 11 of Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with …
2020
Additional file 11: Table S7. Primers for Sanger sequencing validation.
Additional file 10 of Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with …
2020
Additional file 10: Table S6. Sex and age information of controls of methylome analysis.
Additional file 4 of Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with m…
2020
Additional file 4: Figure S3. Violin plots showing whole-genome DNA methylation profiles of probands, their siblings and mothers, and 12 controls.
Additional file 7 of Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with m…
2020
Additional file 7: Figure S4. Sanger sequencing validating the PADI6 variants identified by WES.
Additional file 6 of Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with m…
2020
Additional file 6: Table S3. Maternal genetic variants in homozigosity or compound heterozigosity identified by WES.
Additional file 5 of Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with m…
2020
Additional file 5: Table S2. Methylation defects of imprinted DMRs in patients affected by BWS-MLID whose mothers are carriers of loss of function mutations in PADI6.
Additional file 1 of Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with m…
2020
Additional file 1: Table S1. Pathogenic variants of PADI6 and corresponding clinical phenotype.
Additional file 8 of Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with m…
2020
Additional file 8: Table S4 . List of the maternal-effect gene variants associated with MLID in the offspring identified so far and corresponding clinical phenotype.