Detalhe da pesquisa
1.
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.
Am J Hum Genet
; 110(2): 215-227, 2023 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36586412
2.
Electroclinical Features of Epilepsy in Kleefstra Syndrome.
Neuropediatrics
; 54(6): 433-438, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37802085
3.
Genetic assessment in primary hyperoxaluria: why it matters.
Pediatr Nephrol
; 38(3): 625-634, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35695965
4.
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.
Am J Med Genet A
; 188(12): 3492-3504, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36135330
5.
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy.
Brain
; 144(9): 2659-2669, 2021 10 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34415322
6.
DLG4-related synaptopathy: a new rare brain disorder.
Genet Med
; 23(5): 888-899, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33597769
7.
Combined liver kidney transplantation for primary hyperoxaluria type 1: Will there still be a future? Current transplantation strategies and monocentric experience.
Pediatr Transplant
; 25(4): e14003, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33742750
8.
The ILE56 mutation on different genetic backgrounds of alanine:glyoxylate aminotransferase: Clinical features and biochemical characterization.
Mol Genet Metab
; 131(1-2): 171-180, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32792227
9.
A clinical screening algorithm for primary hyperoxaluria type 1 in adults on dialysis.
Nephrol Dial Transplant
; 39(2): 367-370, 2024 Jan 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-37708050
10.
Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia.
Am J Med Genet A
; 173(3): 601-610, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28127875
11.
S81L and G170R mutations causing Primary Hyperoxaluria type I in homozygosis and heterozygosis: an example of positive interallelic complementation.
Hum Mol Genet
; 23(22): 5998-6007, 2014 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24990153
12.
Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type.
Kidney Int
; 86(6): 1197-204, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24988064
13.
Identification of the DNA methylation signature of Mowat-Wilson syndrome.
Eur J Hum Genet
; 2024 Feb 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38351292
14.
Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope.
Nat Rev Nephrol
; 19(3): 194-211, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36604599
15.
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes.
Eur J Hum Genet
; 31(11): 1228-1236, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36879111
16.
Determinants of Kidney Failure in Primary Hyperoxaluria Type 1: Findings of the European Hyperoxaluria Consortium.
Kidney Int Rep
; 8(10): 2029-2042, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37849991
17.
BClI polymorphism of the glucocorticoid receptor gene is associated with increased obesity, impaired glucose metabolism and dyslipidaemia in patients with Addison's disease.
Clin Endocrinol (Oxf)
; 77(6): 863-70, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22587831
18.
Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment.
Nephrol Dial Transplant
; 27(5): 1729-36, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22547750
19.
First and Second Level Haemoglobinopathies Diagnosis: Best Practices of the Italian Society of Thalassemia and Haemoglobinopathies (SITE).
J Clin Med
; 11(18)2022 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36143073
20.
Primary hyperoxaluria in Italy: the past 30 years and the near future of a (not so) rare disease.
J Nephrol
; 35(3): 841-850, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35218550