Detalhe da pesquisa
1.
Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis.
Am J Hum Genet
; 110(4): 663-680, 2023 04 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36965478
2.
Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish.
Proc Natl Acad Sci U S A
; 120(9): e2102569120, 2023 02 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-36802443
3.
TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions.
Am J Hum Genet
; 109(12): 2270-2282, 2022 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36368327
4.
Homozygous MFN2 variants causing severe antenatal encephalopathy with clumped mitochondria.
Brain
; 147(1): 91-99, 2024 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37804319
5.
Cerebral dural arteriovenous fistulas in patients with PTEN-related hamartoma tumor syndrome.
Clin Genet
; 2024 Feb 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38424388
6.
Neurological outcome in WDR62 primary microcephaly.
Dev Med Child Neurol
; 64(4): 509-517, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35726608
7.
Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder.
Hum Mutat
; 42(7): 848-861, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33856728
8.
Smith-Magenis syndrome: Clinical and behavioral characteristics in a large retrospective cohort.
Clin Genet
; 99(4): 519-528, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33368193
9.
EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder.
Clin Genet
; 100(4): 396-404, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34176129
10.
Congenital posterior cervical spine malformation due to biallelic c.240-4T>G RIPPLY2 variant: A discrete entity.
Am J Med Genet A
; 182(6): 1466-1472, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32212228
11.
Expanding the phenotype of GTF2E2-associated trichothiodystrophy.
J Eur Acad Dermatol Venereol
; 38(3): e222-e226, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37793898
12.
Autosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-function.
Hum Mutat
; 39(8): 1076-1080, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29782060
13.
Demyelinating motor neuropathy associated with a homozygous GPT2 pathogenic variant.
Muscle Nerve
; 63(5): E41-E44, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33501685
14.
New description of an MRPS2 homozygous patient: Further features to help expend the phenotype.
Eur J Med Genet
; 67: 104889, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38029925
15.
Beyond 'speech delay': Expanding the phenotype of BRPF1-related disorder.
Eur J Med Genet
; 68: 104923, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38346666
16.
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.
Eur J Hum Genet
; 2024 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38355961
17.
Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature.
Genes (Basel)
; 14(6)2023 05 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37372360
18.
Biallelic THOC6 pathogenic variants: Prenatal phenotype and review of the literature.
Birth Defects Res
; 114(10): 499-504, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35426486
19.
Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711.
Eur J Hum Genet
; 30(4): 420-427, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34992252
20.
Aquagenic Palmoplantar Keratoderma as a CFTR-related Disorder.
Acta Derm Venereol
; 96(6): 848-9, 2016 08 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-27026144