Detalhe da pesquisa
1.
Clinical Significance of the Cystic Phenotype in Alport Syndrome.
Am J Kidney Dis
; 2024 Mar 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38514012
2.
Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic Diagnosis.
J Am Soc Nephrol
; 34(6): 1105-1119, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36995132
3.
Congenital Hypopigmentary Disorders with Multiorgan Impairment: A Case Report and an Overview on Gray Hair Syndromes.
Medicina (Kaunas)
; 55(3)2019 Mar 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-30934652
4.
Prenatal findings in oral-facial-digital syndrome type VI: Report of three cases and literature review.
Prenat Diagn
; 39(8): 652-655, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31158925
5.
Monoallelic pathogenic IFT140 variants are a common cause of autosomal dominant polycystic kidney disease-spectrum phenotype.
Clin Kidney J
; 17(2): sfae026, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38404363
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-23950054
7.
Expanding the variability of the ADPKD-GANAB clinical phenotype in a family of Italian ancestry.
J Nephrol
; 35(2): 645-652, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-34357571
8.
Clinical and molecular description of a Wilms tumor in a patient with tuberous sclerosis complex.
Am J Med Genet A
; 155A(6): 1419-24, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21567926
9.
Population genetic screening for alpha1-antitrypsin deficiency in a high-prevalence area.
Respiration
; 82(5): 418-25, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21474916
10.
Variable Expressivity of HNF1B Nephropathy, From Renal Cysts and Diabetes to Medullary Sponge Kidney Through Tubulo-interstitial Kidney Disease.
Kidney Int Rep
; 5(12): 2341-2350, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33305128
11.
Should isolated Pseudo-Bartter syndrome be considered a CFTR-related disorder of infancy?
Pediatr Pulmonol
; 54(10): 1578-1583, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31328366
12.
Lessons From the Clinic: ADPKD Genetic Test Unraveling Severe Phenotype, Intrafamilial Variability, and New, Rare Causing Genotype.
Kidney Int Rep
; 7(4): 895-898, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35497784
13.
[Molecular diagnosis of ADPKD]. / ADPKD: diagnosi molecolare.
G Ital Nefrol
; 33(5)2016.
Artigo
em Italiano
| MEDLINE | ID: mdl-27796017
14.
[Genetics and genetic counseling]. / Genetica e counseling genetico.
G Ital Nefrol
; 33(2)2016.
Artigo
em Italiano
| MEDLINE | ID: mdl-27067213
15.
Cytokine-mediated signalling and early defects in lymphoid development.
Curr Opin Allergy Clin Immunol
; 5(6): 519-24, 2005 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-16264332
16.
Clinical and genetic diagnosis of warts, hypogammaglobulinemia, infections, and myelokathexis syndrome in 10 patients.
J Allergy Clin Immunol
; 123(5): 1170-3, 1173.e1-3, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19321197
17.
Congenital neutropenia: advances in diagnosis and treatment.
Curr Opin Allergy Clin Immunol
; 4(6): 513-21, 2004 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-15640692
18.
Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype in two patients with two novel mutations.
Ital J Pediatr
; 40: 80, 2014 Nov 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-25391451
19.
Familial exudative vitreoretinopathy caused by a homozygous mutation in TSPAN12 in a cystic fibrosis infant.
Ophthalmic Genet
; 35(3): 184-6, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23834558
20.
A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP.
J Exp Med
; 209(1): 29-34, 2012 Jan 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-22231303