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1.
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants.
J Med Genet
; 60(2): 163-173, 2023 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-35256403
2.
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.
Am J Hum Genet
; 107(3): 499-513, 2020 09 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-32721402
3.
Celiac disease prevalence and predisposing-HLA in a cohort of 93 Williams-Beuren syndrome patients.
Am J Med Genet A
; 191(1): 84-89, 2023 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-36254687
4.
De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies.
Am J Hum Genet
; 105(3): 640-657, 2019 09 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-31402090
5.
Is Lactoferrin More Effective in Reducing Late-Onset Sepsis in Preterm Neonates Fed Formula Than in Those Receiving Mother's Own Milk? Secondary Analyses of Two Multicenter Randomized Controlled Trials.
Am J Perinatol
; 36(S 02): S120-S125, 2019 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-31238372
6.
Exposure to Gastric Acid Inhibitors Increases the Risk of Infection in Preterm Very Low Birth Weight Infants but Concomitant Administration of Lactoferrin Counteracts This Effect.
J Pediatr
; 193: 62-67.e1, 2018 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-29198543
7.
Group B streptococcus late-onset disease,contaminated breast milk and mothers persistently GBS negative: report of 3cases.
BMC Pediatr
; 18(1): 214, 2018 07 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-29976171
8.
Long-read sequencing reveals chromothripsis in a molecularly unsolved case of Cornelia de Lange syndrome.
Front Genet
; 15: 1358334, 2024.
Artículo
en Inglés
| MEDLINE | ID: mdl-38544803
9.
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis.
Eur J Hum Genet
; 2024 Jun 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-38824261
10.
Testing ethylglucuronide in maternal hair and nails for the assessment of fetal exposure to alcohol: comparison with meconium testing.
Ther Drug Monit
; 35(3): 402-7, 2013 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-23666568
11.
Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency.
J Med Genet
; 49(3): 187-91, 2012 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-22368301
12.
Beckwith-Wiedemann syndrome and twinning: case report and brief review of literature.
Ital J Pediatr
; 49(1): 127, 2023 Sep 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-37749604
13.
Neonatal presentation of Loeys-Dietz syndrome: two case reports and review of the literature.
Ital J Pediatr
; 48(1): 85, 2022 Jun 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-35668506
14.
Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis.
Ital J Pediatr
; 48(1): 145, 2022 Aug 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-35964051
15.
Jacobsen syndrome and neonatal bleeding: report on two unrelated patients.
Ital J Pediatr
; 47(1): 147, 2021 Jul 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34210338
16.
Management of pediatric post-infectious neurological syndromes.
Ital J Pediatr
; 47(1): 17, 2021 Jan 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-33494818
17.
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.
Ital J Pediatr
; 47(1): 94, 2021 Apr 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-33874990
18.
The -413C > G substitution in the promoter of the FMR1 gene is not associated with the fragile X syndrome phenotype.
Mol Cell Probes
; 24(2): 107-9, 2010 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-19836446
19.
Neurophysiological monitoring in neonatal abstinence syndrome from cocaine.
Ann Ist Super Sanita
; 56(3): 390-396, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32959806
20.
Children with special health care needs attending emergency department in Italy: analysis of 3479 cases.
Ital J Pediatr
; 46(1): 173, 2020 Nov 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-33228805