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1.
Expanding the novel MAPKAPK5-related developmental disorder's genotype-phenotype correlation: Patient report and 19 months of follow-up.
Clin Genet
; 102(2): 142-148, 2022 08.
Article
in English
| MEDLINE | ID: mdl-35575217
2.
Dysregulated miRNAs in bone cells of patients with Gorham-Stout disease.
FASEB J
; 35(3): e21424, 2021 03.
Article
in English
| MEDLINE | ID: mdl-33609323
3.
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Genet Med
; 23(10): 1922-1932, 2021 10.
Article
in English
| MEDLINE | ID: mdl-34163037
4.
Langerhans cell histiocytosis in a young patient with Pitt-Hopkins syndrome.
Am J Med Genet A
; 182(11): 2746-2750, 2020 11.
Article
in English
| MEDLINE | ID: mdl-32945094
5.
Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Genet Med
; 23(10): 2016, 2021 Oct.
Article
in English
| MEDLINE | ID: mdl-34522029
6.
Ancient Romans and Down Syndrome.
Pediatr Res
; 90(6): 1266-1267, 2021 12.
Article
in English
| MEDLINE | ID: mdl-33531671
7.
Borderline cognitive level in a family with Bazex-Dupré-Christol syndrome.
Am J Med Genet A
; 167(7): 1637-43, 2015 Jul.
Article
in English
| MEDLINE | ID: mdl-25820919
8.
New Insights into the Role of Lipoprotein(a) as Predictor of Early Onset of Cardiovascular Disease in Pediatric Familial Hypercholesterolemia (FH).
Pediatr Cardiol
; 41(6): 1242-1243, 2020 08.
Article
in English
| MEDLINE | ID: mdl-32518962
9.
Spectrum of ERCC6-Related Cockayne Syndrome (Type B): From Mild to Severe Forms.
Genes (Basel)
; 15(4)2024 Apr 18.
Article
in English
| MEDLINE | ID: mdl-38674442
10.
Long-term follow-up in a pediatric patient with Ligneous Conjunctivitis due to PLG gene mutation in topical plasminogen treatment after successful use of ocular prosthesis for aesthetic rehabilitation: a case report.
Ital J Pediatr
; 49(1): 101, 2023 Aug 23.
Article
in English
| MEDLINE | ID: mdl-37612758
11.
How pain affect real life of children and adults with achondroplasia: A systematic review.
Eur J Med Genet
; 66(11): 104850, 2023 Nov.
Article
in English
| MEDLINE | ID: mdl-37758167
12.
Eruptive Xanthomas in Lipoprotein Lipase Deficiency.
J Pediatr
; 187: 330, 2017 08.
Article
in English
| MEDLINE | ID: mdl-28529016
13.
Statin-associated myopathy in pediatric settings: Myth or fact?
J Pediatr
; 191: 279, 2017 12.
Article
in English
| MEDLINE | ID: mdl-28964429
14.
Management of Upper Airway Infantile Hemangiomas: Experience of One Italian Multidisciplinary Center.
Front Pediatr
; 9: 717232, 2021.
Article
in English
| MEDLINE | ID: mdl-34950613
15.
Stimulation of Treg Cells to Inhibit Osteoclastogenesis in Gorham-Stout Disease.
Front Cell Dev Biol
; 9: 706596, 2021.
Article
in English
| MEDLINE | ID: mdl-34513837
16.
Dissecting the mechanisms of bone loss in Gorham-Stout disease.
Bone
; 130: 115068, 2020 01.
Article
in English
| MEDLINE | ID: mdl-31525474
17.
Corneal arcus as first sign of familial hypercholesterolemia.
J Pediatr
; 164(3): 670, 2014 Mar.
Article
in English
| MEDLINE | ID: mdl-24314439
18.
Evolocumab in the management of children <10 years of age affected by homozygous familial hypercholesterolemia.
Atherosclerosis
; 324: 148-150, 2021 05.
Article
in English
| MEDLINE | ID: mdl-33824001
19.
Fatal varicella pneumonia in an unvaccinated child with Down Syndrome: a case report.
Ital J Pediatr
; 42(1): 99, 2016 Nov 17.
Article
in English
| MEDLINE | ID: mdl-27855688
20.
Infantile myofibromatosis: a rare cause of subcutaneous nodules in an infant.
Arch Dis Child
; 2020 Jun 23.
Article
in English
| MEDLINE | ID: mdl-32576562