Detalhe da pesquisa
1.
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.
Am J Hum Genet
; 110(8): 1377-1393, 2023 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37451268
2.
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance.
Hum Mol Genet
; 31(19): 3325-3340, 2022 09 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35604360
3.
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.
Am J Hum Genet
; 108(10): 2006-2016, 2021 10 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34626583
4.
Pathogenic variants in SOX11 mimicking Pitt-Hopkins syndrome phenotype.
Clin Genet
; 105(1): 81-86, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37558216
5.
Novel variants and cellular studies on patients' primary fibroblasts support a role for NEK1 missense variants in ALS pathogenesis.
Hum Mol Genet
; 30(1): 65-71, 2021 03 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33445179
6.
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility.
Hum Genet
; 142(6): 785-808, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37079061
7.
ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures.
Genet Med
; 25(12): 100971, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37675773
8.
Evaluating the contribution of the gene TARDBP in Italian patients with amyotrophic lateral sclerosis.
Eur J Neurol
; 30(5): 1246-1255, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36732882
9.
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes.
Brain
; 145(9): 3308-3327, 2022 09 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35851598
10.
Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome.
J Med Genet
; 59(2): 189-195, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33361104
11.
Smith Magenis syndrome: First case of congenital heart defect in a patient with Rai1 mutation.
Am J Med Genet A
; 188(7): 2184-2186, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35373511
12.
Smith-Magenis syndrome: Report of morphological and new functional cardiac findings with review of the literature.
Am J Med Genet A
; 185(7): 2003-2011, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33811726
13.
CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects.
J Med Genet
; 57(6): 389-399, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32015000
14.
Langerhans cell histiocytosis in a young patient with Pitt-Hopkins syndrome.
Am J Med Genet A
; 182(11): 2746-2750, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32945094
15.
International meeting on Wolf-Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay.
Am J Med Genet A
; 182(1): 257-267, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31769173
16.
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.
Am J Hum Genet
; 98(6): 1130-1145, 2016 Jun 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27259049
17.
Pembrolizumab as first-line treatment for metastatic uveal melanoma.
Cancer Immunol Immunother
; 68(7): 1179-1185, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-31175402
18.
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly.
Genet Med
; 21(9): 2043-2058, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30842647
19.
Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement.
Clin Genet
; 95(4): 462-478, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30677142
20.
SYT1-associated neurodevelopmental disorder: a case series.
Brain
; 141(9): 2576-2591, 2018 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30107533