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Principali pubblicazioni del C.R.R. per le Malformazioni congenite, sindromi genetiche e cromosomopatie

24-nov-2022

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Area di expertise:

-          diagnosi prenatale in gravidanze a rischio

-          malformazioni congenite, sindromi genetiche e cromosomopatie

PRINCIPALI PUBBLICAZIONI (2020-2022)

  • Dong X, Tan NB, Howell KB, Barresi S, Freeman JL, Vecchio D, Piccione M, Radio FC, Calame D, Zong S, Eggers S, Scheffer IE, Tan TY, Van Bergen NJ, Tartaglia M, Christodoulou J, White SM. Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification. Am J Hum Genet. 2020 Apr 2;106(4):559-569. doi: 10.1016/j.ajhg.2020.02.014. Epub 2020 Mar 19. PMID: 32197075; PMCID: PMC7118692.
  • Mercadante F, Busè M, Salzano E, Fragapane T, Palazzo D, Malacarne M, Piccione M. 12q14.3 microdeletion involving HMGA2 gene cause a Silver-Russell syndrome-like phenotype: a case report and review of the literature. Ital J Pediatr. 2020 Jul 28;46(1):108. doi: 10.1186/s13052-020-00866-9. PMID: 32723361; PMCID: PMC7389890.
  • Squeo GM, Augello B, Massa V, Milani D, Colombo EA, Mazza T, Castellana S, Piccione M, Maitz S, Petracca A, Prontera P, Accadia M, Della Monica M, Di Giacomo MC, Melis D, Selicorni A, Giglio S, Fischetto R, Di Fede E, Malerba N, Russo M, Castori M, Gervasini C, Merla G. Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder. J Med Genet. 2020 Nov;57(11):760-768. doi: 10.1136/jmedgenet-2019-106724. Epub 2020 Mar 13. PMID: 32170002.
  • Pavone P, Pappalardo XG, Marino SD, Sciuto L, Corsello G, Ruggieri M, Parano E, Piccione M, Falsaperla R. A novel GABRB3 variant in Dravet syndrome: Case report and literature review. Mol Genet Genomic Med. 2020 Nov;8(11):e1461. doi: 10.1002/mgg3.1461. Epub 2020 Sep 18. PMID: 32945607; PMCID: PMC7667356.
  • Balistreri CR, Ammoscato CL, Scola L, Fragapane T, Giarratana RM, Lio D, Piccione M. Susceptibility to Heart Defects in Down Syndrome Is Associated with Single Nucleotide Polymorphisms in HAS 21 Interferon Receptor Cluster and VEGFA Genes. Genes (Basel). 2020 Nov 28;11(12):1428. doi: 10.3390/genes11121428. PMID: 33260695; PMCID: PMC7761327.
  • Di Fede E, Massa V, Augello B, Squeo G, Scarano E, Perri AM, Fischetto R, Causio FA, Zampino G, Piccione M, Curridori E, Mazza T, Castellana S, Larizza L, Ghelma F, Colombo EA, Gandini MC, Castori M, Merla G, Milani D, Gervasini C. Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann-Steiner and Rubinstein-Taybi syndromes. Eur J Hum Genet. 2021 Jan;29(1):88-98. doi: 10.1038/s41431-020-0679-8. Epub 2020 Jul 8. PMID: 32641752; PMCID: PMC7852672
  • Spataro, I.A., Gambino, G., Piccione, M.Autismspectrum disorders (ASD): An earlydiagnosis in the first year of life | [Diagnosi precoce nel primo anno di vita dei disturbi dello spettro autistico (ASD)]Quaderni ACP 28(3), pp. 119, 2021
  • Latorre-Pellicer A, Gil-Salvador M, Parenti I, Lucia-Campos C, Trujillano L, Marcos-Alcalde I, Arnedo M, Ascaso Á, Ayerza-Casas A, Antoñanzas-Pérez R, Gervasini C, Piccione M, Mariani M, Weber A, Kanber D, Kuechler A, Munteanu M, Khuller K, Bueno-Lozano G, Puisac B, Gómez-Puertas P, Selicorni A, Kaiser FJ, Ramos FJ, Pié J. Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood. Sci Rep. 2021 Jul 29;11(1):15459. doi: 10.1038/s41598-021-94958-z. PMID: 34326454; PMCID: PMC8322329.
  • Kerkhof J, Squeo GM, McConkey H, Levy MA, Piemontese MR, Castori M, Accadia M, Biamino E, Della Monica M, Di Giacomo MC, Gervasini C, Maitz S, Melis D, Milani D, Piccione M, Prontera P, Selicorni A, Sadikovic B, Merla G. DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies. Genet Med. 2022 Jan;24(1):51-60. doi: 10.1016/j.gim.2021.08.007. Epub 2021 Nov 30. PMID: 34906459.
  • Giambona A, Vinciguerra M, Leto F, Cassarà F, Cucinella G, Cigna V, Orlandi E, Piccione M, Picciotto F, Maggio A. Very early prenatal diagnosis of Cockayne's syndrome by coelocentesis. J Obstet Gynaecol. 2022 Jan 10:1-8. doi: 10.1080/01443615.2021.2014429. Epub ahead of print. PMID: 35006018.
  • Foroutan A, Haghshenas S, Bhai P, Levy MA, Kerkhof J, McConkey H, Niceta M, Ciolfi A, Pedace L, Miele E, Genevieve D, Heide S, Alders M, Zampino G, Merla G, Fradin M, Bieth E, Bonneau D, Dieterich K, Fergelot P, Schaefer E, Faivre L, Vitobello A, Maitz S, Fischetto R, Gervasini C, Piccione M, van de Laar I, Tartaglia M, Sadikovic B, Lebre AS. Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome. Int J Mol Sci. 2022 Feb 5;23(3):1815. doi: 10.3390/ijms23031815. PMID: 35163737; PMCID: PMC8836705.
  • Poeta L, Malacarne M, Padula A, Drongitis D, Verrillo L, Lioi MB, Chiariello AM, Bianco S, Nicodemi M, Piccione M, Salzano E, Coviello D, Miano MG. Further Delineation of Duplications of ARX Locus Detected in Male Patients with Varying Degrees of Intellectual Disability. Int J Mol Sci. 2022 Mar 13;23(6):3084. doi: 10.3390/ijms23063084. PMID: 35328505; PMCID: PMC8955779.
  • Recalcati MP, Catusi I, Garzo M, Redaelli S, Massimello M, Maitz SB, Gentile M, Ponzi E, Orsini P, Zilio A, Montaldi A, Calò A, Capra AP, Briuglia S, La Rosa MA, Grillo L, Romano C, Bianca S, Malacarne M, Busè M, Piccione M, Larizza L. 12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature. Genes (Basel). 2022 Apr 27;13(5):780. doi: 10.3390/genes13050780. PMID: 35627165; PMCID: PMC9141874.
  • Levy MA, Relator R, McConkey H, Pranckeviciene E, Kerkhof J, Barat-Houari M, Bargiacchi S, Biamino E, Palomares Bralo M, Cappuccio G, Ciolfi A, Clarke A, DuPont BR, Elting MW, Faivre L, Fee T, Ferilli M, Fletcher RS, Cherick F, Foroutan A, Friez MJ, Gervasini C, Haghshenas S, Hilton BA, Jenkins Z, Kaur S, Lewis S, Louie RJ, Maitz S, Milani D, Morgan AT, Oegema R, Østergaard E, Pallares NR, Piccione M, Plomp AS, Poulton C, Reilly J, Rius R, Robertson S, Rooney K, Rousseau J, Santen GWE, Santos-Simarro F, Schijns J, Squeo GM, John MS, Thauvin-Robinet C, Traficante G, van der Sluijs PJ, Vergano SA, Vos N, Walden KK, Azmanov D, Balci TB, Banka S, Gecz J, Henneman P, Lee JA, Mannens MMAM, Roscioli T, Siu V, Amor DJ, Baynam G, Bend EG, Boycott K, Brunetti-Pierri N, Campeau PM, Campion D, Christodoulou J, Dyment D, Esber N, Fahrner JA, Fleming MD, Genevieve D, Heron D, Husson T, Kernohan KD, McNeill A, Menke LA, Merla G, Prontera P, Rockman-Greenberg C, Schwartz C, Skinner SA, Stevenson RE, Vincent M, Vitobello A, Tartaglia M, Alders M, Tedder ML, Sadikovic B. Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders. Hum Mutat. 2022 Jul 29. doi: 10.1002/humu.24446. Epub ahead of print. PMID: 35904121

 

 

  • Congenital hypopituitarism and multiple midline defects in a newborn with non-familial Cat Eye syndrome (2022) Italian Journal of Pediatrics, 48 (1), art. no. 170, .
  • Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis (2022) Italian Journal of Pediatrics, 48 (1), art. no. 145, .
  • Quality of life improving after propranolol treatment in patients with Infantile Hemangiomas (2022) Italian Journal of Pediatrics, 48 (1), art. no. 140, .
  • Novel de novo missense mutation in the interferon regulatory factor 6 gene in an Italian infant with IRF6-related disorder (2022) Italian Journal of Pediatrics, 48 (1), art. no. 132, .
  • Distal Arthrogryposis type 5 in an Italian family due to an autosomal dominant gain-of-function mutation of the PIEZO2 gene (2022) Italian Journal of Pediatrics, 48 (1), art. no. 133, .
  • Cardio-facio-cutaneous syndrome and gastrointestinal defects: report on a newborn with 19p13.3 deletion including the MAP 2 K2 gene (2022) Italian Journal of Pediatrics, 48 (1), art. no. 65, .
  • Interstitial deletions of chromosome 1p: novel 1p31.3p22.2 microdeletion in a newborn with craniosynostosis, coloboma and cleft palate, and review of the genomic and phenotypic profiles (2022) Italian Journal of Pediatrics, 48 (1), art. no. 38, .
  • Hypertrophic pyloric stenosis masked by kidney failure in a male infant with a contiguous gene deletion syndrome at Xp22.31 involving the steroid sulfatase gene: case report (2022) Italian Journal of Pediatrics, 48 (1), art. no. 19, .
  • Muscle Histopathological Abnormalities in a Patient With a CCT5 Mutation Predicted to Affect the Apical Domain of the Chaperonin Subunit (2022) Frontiers in Molecular Biosciences, 9, art. no. 887336, .
  • Commonalities and distinctions between two neurodevelopmental disorder subtypes associated with SCN2A and SCN8A variants and literature review (2022) Molecular Genetics and Genomic Medicine, 10 (5), art. no. e1911, .
  • Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis (2022) Journal of Medical Genetics, 59 (2), pp. 170-179.
  • A refugee newborn with heart failure and initial hydrops: Diagnostic clues of spectral Doppler examinations (2022) Journal of Paediatrics and Child Health, .
  • Clinical and genetic approach in the characterization of newborns with anorectal malformation (2022) Journal of Maternal-Fetal and Neonatal Medicine, 35 (23), pp. 4513-4520.
  • Novel missense mutation of the TP63 gene in a newborn with Hay-Wells/Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome: clinical report and follow-up (2021) Italian Journal of Pediatrics, 47 (1), art. no. 196, .
  • Jacobsen syndrome and neonatal bleeding: report on two unrelated patients (2021) Italian Journal of Pediatrics, 47 (1), art. no. 147, .
  • Recommendations for neonatologists and pediatricians working in first level birthing centers on the first communication of genetic disease and malformation syndrome diagnosis: consensus issued by 6 Italian scientific societies and 4 parents’ associations (2021) Italian Journal of Pediatrics, 47 (1), art. no. 94, .
  • 2q13 microdeletion syndrome: Report on a newborn with additional features expanding the phenotype (2021) Clinical Case Reports, 9 (6), art. no. e04289, .
  • Autosomal recessive polycystic kidney disease: case report of a newborn with rare PKHD1 mutation, rapid renal enlargement and early fatal outcome (2020) Italian Journal of Pediatrics, 46 (1), art. no. 154, .
  • A novel cct5 missense variant associated with early onset motor neuropathy (2020) International Journal of Molecular Sciences, 21 (20), art. no. 7631, pp. 1-12.
  • Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: Case report of an Italian patient (2020) Italian Journal of Pediatrics, 46 (1), art. no. 140, .
  • Neonatal hyperinsulinemic hypoglycemia: Case report of kabuki syndrome due to a novel KMT2D splicing-site mutation (2020) Italian Journal of Pediatrics, 46 (1), art. no. 136, .
  • Total colonic aganglionosis and cleft palate in a newborn with Janus-cysteine 618 mutation of RET proto-oncogene: A case report (2020) Italian Journal of Pediatrics, 46 (1), art. no. 135, .
  • What is the impact of a novel MED12 variant on syndromic conotruncal heart defects? Analysis of case report on two male sibs. (2020) Italian Journal of Pediatrics, 46 (1), art. no. 98, .
  • A refugee newborn with heart failure and initial hydrops: Diagnostic clues of spectral Doppler examinations (2020) Journal of Paediatrics and Child Health, 56 (8), p. 1315.
  • Growth patterns and associated risk factors of congenital malformations in twins (2020) Italian Journal of Pediatrics, 46 (1), art. no. 73, .
  • Neonatal ten-year retrospective study on neural tube defects in a second level University Hospital (2020) Italian Journal of Pediatrics, 46 (1), art. no. 72, .
  • Recognizable neonatal clinical features of aplasia cutis congenita (2020) Italian Journal of Pediatrics, 46 (1), art. no. 25, .
  • Congenital pelvic skeletal anomalies: Clinical and radiographic evaluation of newborns with gastrointestinal malformation (2020) Early Human Development, 141, art. no. 104945, .
  • Large for gestational age, macrosomia, overgrowth: An update on definitions and determinants (2020) EuroMediterranean Biomedical Journal, 15 (29), pp. 116-120.