Detalhe da pesquisa
1.
Congenital diaphragmatic hernia in Coffin Siris syndrome: Further evidence from two cases.
Am J Med Genet A
; 191(2): 605-611, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36416235
2.
Chung-Jansen syndrome can mimic Cornelia de Lange syndrome: Another player among chromatinopathies?
Am J Med Genet A
; 191(6): 1586-1592, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36843271
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-36254687
4.
Laparoscopic Treatment of Gastroesophageal Reflux Disease. Outcomes and Quality of Life. A Long Term Follow-Up Study.
Chirurgia (Bucur)
; 118(4): 370-379, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37697999
5.
Neuroimaging appearance of hypothalamic hamartomas in monozygotic twins with Pallister-Hall syndrome: case report and review of the literature.
BMC Neurol
; 22(1): 118, 2022 Mar 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-35331151
6.
Family history is key to the interpretation of exome sequencing in the prenatal context: unexpected diagnosis of Basal Cell Nevus Syndrome.
Prenat Diagn
; 42(7): 927-933, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35584264
7.
An additional piece in the TBX6 gene dosage model: A novel nonsense variant in a fetus with severe spondylocostal dysostosis.
Clin Genet
; 98(6): 628-629, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33058178
8.
Multidisciplinary follow-up in a patient with Morgagni hernia leads to diagnosis of Marfan syndrome.
Ital J Pediatr
; 50(1): 94, 2024 May 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38715046
9.
Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams-Beuren Syndrome.
J Am Heart Assoc
; 13(3): e031377, 2024 Feb 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38293922
10.
Alport syndrome: the effects of spironolactone on proteinuria and urinary TGF-ß1.
Pediatr Nephrol
; 28(9): 1837-42, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23748277
11.
Laparoscopic Sleeve Gastrectomy in Patients Over 60 Years Old: A Long-Term Follow-Up.
J Laparoendosc Adv Surg Tech A
; 33(11): 1033-1039, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37579046
12.
Short stature in PRMT7 Mutations: first evidence of response to growth hormone treatment.
Eur J Hum Genet
; 31(2): 195-201, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36348013
13.
Re-sleeve gastrectomy: weight loss, comorbidities and gerd evaluation in a large series with 5 years of follow-up.
Updates Surg
; 75(4): 959-965, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36849646
14.
Role of Preoperative High-Resolution Manometry in the Identification of Patients at High Risk of Postoperative GERD Symptoms 1 Year After Sleeve Gastrectomy.
Obes Surg
; 33(9): 2749-2757, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37466827
15.
Pitfalls of whole exome sequencing in undefined clinical conditions with a suspected genetic etiology.
Genes Genomics
; 45(5): 637-655, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36454368
16.
[Large-bowel obstruction as a result of occult diaphragmatic hernia 11 years after injuries]. / Occlusione intestinale del colon per ernia diaframmatica occulta 11 anni dopo trauma penetrante.
Ann Ital Chir
; 83(5): 425-8, 2012.
Artigo
em Italiano
| MEDLINE | ID: mdl-23064304
17.
Evaluation of the Efficacy of a Hydrolyzed Collagen Supplement for Improving Skin Moisturization, Smoothness, and Wrinkles.
J Clin Aesthet Dermatol
; 15(3): 48-52, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-35342502
18.
Promoting engagement with quality communication in social media.
PLoS One
; 17(10): e0275534, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36227911
19.
Smith-Magenis Syndrome-Clinical Review, Biological Background and Related Disorders.
Genes (Basel)
; 13(2)2022 02 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35205380
20.
CHARGE syndrome presenting with persistent hypoglycemia: case report and overview of the main genetic syndromes associated with neonatal hypoglycemia.
Ital J Pediatr
; 48(1): 154, 2022 Aug 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-35987847