Detalhe da pesquisa
1.
Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency.
N Engl J Med
; 389(6): 527-539, 2023 Aug 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37342957
2.
Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation.
Am J Hum Genet
; 108(6): 1126-1137, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34010604
3.
Novel biallelic PISD missense variants cause spondyloepimetaphyseal dysplasia with disproportionate short stature and fragmented mitochondrial morphology.
Clin Genet
; 2024 May 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38801004
4.
A deep intronic variant in DNM1 in a patient with developmental and epileptic encephalopathy creates a splice acceptor site and affects only transcript variants including exon 10a.
Neurogenetics
; 24(3): 171-180, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37039969
5.
INPP4A-related genetic and phenotypic spectrum and functional relevance of subcellular targeting of INPP4A isoforms.
Neurogenetics
; 24(2): 79-93, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36653678
6.
Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities.
Am J Hum Genet
; 107(6): 1044-1061, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33159882
7.
A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl-/H+-Exchanger, Causes Early-Onset Neurodegeneration.
Am J Hum Genet
; 107(6): 1062-1077, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33217309
8.
Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome.
Am J Hum Genet
; 107(1): 34-45, 2020 07 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32497488
9.
De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias.
Genet Med
; 25(10): 100927, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37422718
10.
Biallelic CACNA2D1 loss-of-function variants cause early-onset developmental epileptic encephalopathy.
Brain
; 145(8): 2721-2729, 2022 08 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35293990
11.
Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation.
Brain
; 145(4): 1551-1563, 2022 05 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-34694367
12.
A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions.
PLoS Genet
; 16(3): e1008625, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32176688
13.
Autosomal dominantly inherited myopathy likely caused by the TNNT1 variant p.(Asp65Ala).
Hum Mutat
; 43(9): 1224-1233, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35510366
14.
A homozygous hypomorphic BNIP1 variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo-epiphyseal dysplasia.
Hum Mutat
; 43(5): 625-642, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35266227
15.
Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome.
Am J Hum Genet
; 104(6): 1139-1157, 2019 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31155282
16.
Cardiofacioneurodevelopmental syndrome: Report of a novel patient and expansion of the phenotype.
Am J Med Genet A
; 188(8): 2448-2453, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35451546
17.
Biallelic variants in VPS50 cause a neurodevelopmental disorder with neonatal cholestasis.
Brain
; 144(10): 3036-3049, 2021 11 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34037727
18.
CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders.
Brain
; 144(7): 2092-2106, 2021 08 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-33704440
19.
Clinically Relevant KCNQ1 Variants Causing KCNQ1-KCNE2 Gain-of-Function Affect the Ca2+ Sensitivity of the Channel.
Int J Mol Sci
; 23(17)2022 Aug 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-36077086
20.
Missense mutations in CASK, coding for the calcium-/calmodulin-dependent serine protein kinase, interfere with neurexin binding and neurexin-induced oligomerization.
J Neurochem
; 157(4): 1331-1350, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33090494