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1.
Clinical and Laboratory Features of 184 Italian Pediatric Patients Affected with Selective IgA Deficiency (SIgAD): a Longitudinal Single-Center Study.
J Clin Immunol
; 39(5): 470-475, 2019 07.
Article
in English
| MEDLINE | ID: mdl-31129864
2.
Body experiences and psychopathology in idiopathic central precocious and early puberty.
Minerva Pediatr
; 68(1): 11-8, 2016 Feb.
Article
in English
| MEDLINE | ID: mdl-26864719
3.
SNP array and FISH analysis of a proband with a 22q13.2- 22qter duplication shed light on the molecular origin of the rearrangement.
BMC Med Genet
; 16: 47, 2015 Jul 07.
Article
in English
| MEDLINE | ID: mdl-26149167
4.
Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.
Hum Mutat
; 35(7): 841-50, 2014 Jul.
Article
in English
| MEDLINE | ID: mdl-24633898
5.
Generation of human induced pluripotent stem cell lines derived from three Noonan syndrome patients from a single family carrying the heterozygous PTPN11 c.188 A > G (p.Y63C) mutation.
Stem Cell Res
; 74: 103293, 2024 02.
Article
in English
| MEDLINE | ID: mdl-38160629
6.
Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R.
Am J Med Genet A
; 161A(10): 2614-9, 2013 Oct.
Article
in English
| MEDLINE | ID: mdl-23950054
7.
Early onset of puberty during COVID-19 pandemic lockdown: experience from two Pediatric Endocrinology Italian Centers.
J Pediatr Endocrinol Metab
; 36(3): 290-298, 2023 Mar 28.
Article
in English
| MEDLINE | ID: mdl-36607833
8.
Atypical, Composite, or Blended Phenotypes: How Different Molecular Mechanisms Could Associate in Double-Diagnosed Patients.
Genes (Basel)
; 13(7)2022 07 19.
Article
in English
| MEDLINE | ID: mdl-35886058
9.
Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying NSD1 Variants.
Genes (Basel)
; 13(11)2022 11 19.
Article
in English
| MEDLINE | ID: mdl-36421837
10.
SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations.
Hum Mutat
; 32(7): 760-72, 2011 Jul.
Article
in English
| MEDLINE | ID: mdl-21387466
11.
Growth hormone secretory pattern in non-obese children and adolescents with Prader-Willi syndrome.
J Pediatr Endocrinol Metab
; 24(7-8): 477-81, 2011.
Article
in English
| MEDLINE | ID: mdl-21932585
12.
Profound T-cell defects in Dubowitz syndrome.
Pediatr Allergy Immunol
; 25(5): 511-3, 2014 Aug.
Article
in English
| MEDLINE | ID: mdl-24899539
13.
Thyroid function in patients with Prader-Willi syndrome: an Italian multicenter study of 339 patients.
J Pediatr Endocrinol Metab
; 32(2): 159-165, 2019 Feb 25.
Article
in English
| MEDLINE | ID: mdl-30703060
14.
Mutation profile of BBS genes in patients with Bardet-Biedl syndrome: an Italian study.
Ital J Pediatr
; 45(1): 72, 2019 Jun 13.
Article
in English
| MEDLINE | ID: mdl-31196119
15.
The Italian National Survey for Prader-Willi syndrome: an epidemiologic study.
Am J Med Genet A
; 146A(7): 861-72, 2008 Apr 01.
Article
in English
| MEDLINE | ID: mdl-18203198
16.
Newborn with isolated severe deficiency of cranial vault ossification: a case of cleidocranial dysplasia.
Arch Dis Child Fetal Neonatal Ed
; 2023 Jul 10.
Article
in English
| MEDLINE | ID: mdl-37433588
17.
A family with complete resistance to thyrotropin-releasing hormone.
N Engl J Med
; 360(7): 731-4, 2009 Feb 12.
Article
in English
| MEDLINE | ID: mdl-19213692
18.
Growth hormone receptor polymorphisms.
Endocr Dev
; 11: 28-35, 2007.
Article
in English
| MEDLINE | ID: mdl-17986824
19.
Is retesting in growth hormone deficient children really useful?
Minerva Endocrinol
; 42(4): 325-330, 2017 Dec.
Article
in English
| MEDLINE | ID: mdl-27304071
20.
Five-year response to growth hormone in children with Noonan syndrome and growth hormone deficiency.
Ital J Pediatr
; 41: 71, 2015 Oct 06.
Article
in English
| MEDLINE | ID: mdl-26444854