Detalhe da pesquisa
1.
A longitudinal characterization of the adaptive and behavioral profile in Sotos syndrome.
Am J Med Genet A
; 194(6): e63553, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38318994
2.
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
3.
Identification of GM1-Ganglioside Secondary Accumulation in Fibroblasts from Neuropathic Gaucher Patients and Effect of a Trivalent Trihydroxypiperidine Iminosugar Compound on Its Storage Reduction.
Molecules
; 29(2)2024 Jan 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38257371
4.
Cognitive, adaptive and behavioral profile in Sotos syndrome children with 5q35 microdeletion or intragenic variants.
Am J Med Genet A
; 191(7): 1836-1848, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37066965
5.
Interstitial 2q24.2q24.3 Microdeletion: Two New Cases with Similar Clinical Features with the Exception of Profound Deafness.
Cytogenet Genome Res
; 162(3): 132-139, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35896065
6.
Hb Alessandria [ß37(C3)TrpâLeu; HBB: c.113G>T]: a Novel Variant on the ß-Globin Chain with Slightly Increased Affinity for Oxygen Detected by Capillary Electrophoresis.
Hemoglobin
; 46(4): 240-244, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-36106536
7.
Further Delineation of Duplications of ARX Locus Detected in Male Patients with Varying Degrees of Intellectual Disability.
Int J Mol Sci
; 23(6)2022 Mar 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35328505
8.
The L467F-F508del Complex Allele Hampers Pharmacological Rescue of Mutant CFTR by Elexacaftor/Tezacaftor/Ivacaftor in Cystic Fibrosis Patients: The Value of the Ex Vivo Nasal Epithelial Model to Address Non-Responders to CFTR-Modulating Drugs.
Int J Mol Sci
; 23(6)2022 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35328596
9.
High-Throughput Gene and Protein Analysis Revealed the Response of Disc Cells to Vitamin D, Depending on the VDR FokI Variants.
Int J Mol Sci
; 22(17)2021 Sep 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34502510
10.
Comprehensive Profiling of Secretome Formulations from Fetal- and Perinatal Human Amniotic Fluid Stem Cells.
Int J Mol Sci
; 22(7)2021 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33918297
11.
Hb A2-Pistoia [δ89(F5)SerâAsn, HBD: c.269G>a]: a Novel Mutation on the δ-Globin Gene in an Italian Child.
Hemoglobin
; 44(5): 368-370, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32912024
12.
Prognostic value of chromosomal imbalances, gene mutations, and BAP1 expression in uveal melanoma.
Genes Chromosomes Cancer
; 57(8): 387-400, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29689622
13.
Psychiatric genetic counseling: A mapping exercise.
Am J Med Genet B Neuropsychiatr Genet
; 180(8): 523-532, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31222934
14.
ELOVL5 mutations cause spinocerebellar ataxia 38.
Am J Hum Genet
; 95(2): 209-17, 2014 Aug 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25065913
15.
TACI variants as underlying condition in autoimmune neutropenia: Description of four cases.
Am J Hematol
; 97(9): E328-E331, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35686370
16.
Custom Array Comparative Genomic Hybridization: the Importance of DNA Quality, an Expert Eye, and Variant Validation.
Int J Mol Sci
; 18(3)2017 Mar 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28287439
17.
Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases.
Ann Rheum Dis
; 75(8): 1550-7, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-26386126
18.
A humanized system to expand in vitro amniotic fluid-derived stem cells intended for clinical application.
Cytotherapy
; 18(3): 438-51, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26857233
19.
Duplications upstream and downstream of SHOX identified as novel causes of Leri-Weill dyschondrosteosis or idiopathic short stature.
Am J Med Genet A
; 170A(4): 949-57, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26698168
20.
Aortic dilation in Sotos syndrome: An underestimated feature?
Am J Med Genet A
; 182(7): 1819-1823, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32286744