Detalhe da pesquisa
1.
Differential effects of iron chelators on iron burden and long-term morbidity and mortality outcomes in a large cohort of transfusion-dependent ß-thalassemia patients who remained on the same monotherapy over 10 years.
Blood Cells Mol Dis
; 107: 102859, 2024 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-38820707
2.
Revisiting iron overload status and change thresholds as predictors of mortality in transfusion-dependent ß-thalassemia: a 10-year cohort study.
Ann Hematol
; 2024 Mar 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38503936
3.
'Phenoconversion' in adult patients with ß-thalassemia.
Am J Hematol
; 99(3): 490-493, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38165006
4.
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.
Brain
; 146(2): 534-548, 2023 02 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35979925
5.
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants.
J Med Genet
; 60(2): 163-173, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35256403
6.
The somatic p.T81dup variant in AKT3 gene underlies a mild cerebral phenotype and expands the spectrum including capillary malformation and lateralized overgrowth.
Genes Chromosomes Cancer
; 62(12): 703-709, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37395289
7.
Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder.
Genet Med
; 25(11): 100922, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37403762
8.
Occult ischemic bone lesions in children with sickle cell disease: A study of prevalence.
Eur J Haematol
; 110(3): 236-242, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36367374
9.
Electroclinical Features of Epilepsy in Kleefstra Syndrome.
Neuropediatrics
; 54(6): 433-438, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37802085
10.
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis.
J Med Genet
; 59(2): 170-179, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33323470
11.
Lateralized overgrowth with vascular malformation caused by a somatic PTPN11 pathogenic variant: Another piece added to the puzzle of mosaic RASopathies.
Genes Chromosomes Cancer
; 61(11): 689-695, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35778969
12.
Successful treatment with MEK-inhibitor in a patient with NRAS-related cutaneous skeletal hypophosphatemia syndrome.
Genes Chromosomes Cancer
; 61(12): 740-746, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35999193
13.
Mosaic RASopathies: A review of disorders caused by somatic pathogenic variants in the genes of the RAS/MAPK pathway.
Am J Med Genet C Semin Med Genet
; 190(4): 520-529, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36461154
14.
Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques.
Clin Genet
; 102(4): 314-323, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35842840
15.
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
16.
Epilepsy in a cohort of children with Noonan syndrome and related disorders.
Eur J Pediatr
; 181(8): 2919-2926, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35575813
17.
Prenatal features in Beckwith-Wiedemann syndrome and indications for prenatal testing.
J Med Genet
; 58(12): 842-849, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33115931
18.
Evolution over Time of Leg Length Discrepancy in Patients with Syndromic and Isolated Lateralized Overgrowth.
J Pediatr
; 234: 123-127, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33465347
19.
A new case of Smith-Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic spectrum to lateralized overgrowth.
Clin Genet
; 99(5): 719-723, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33506498
20.
Kaposiform hemangioendothelioma further broadens the phenotype of PIK3CA-related overgrowth spectrum.
Clin Genet
; 100(5): 624-627, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34402524