Detalhe da pesquisa
1.
Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders.
Am J Hum Genet
; 105(5): 1005-1015, 2019 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31630790
2.
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.
Am J Hum Genet
; 105(4): 689-705, 2019 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31495489
3.
De Novo ACTG1 Variant Expands the Phenotype and Genotype of Partial Deafness and Baraitser-Winter Syndrome.
Int J Mol Sci
; 23(2)2022 Jan 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35054877
4.
Kosaki overgrowth syndrome due to a novel de novo PDGFRB variant.
Clin Genet
; 101(1): 144-145, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34708400
5.
Gene conversion between cationic trypsinogen (PRSS1) and the pseudogene trypsinogen 6 (PRSS3P2) in patients with chronic pancreatitis.
Hum Mutat
; 36(3): 350-6, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25546417
6.
Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations.
Cell Death Dis
; 15(5): 379, 2024 May 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38816421
7.
Congenital coenzyme Q5-linked pathology: causal genetic association, core phenotype, and molecular mechanism.
J Appl Genet
; 64(3): 507-514, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37599337
8.
A Zebrafish/Drosophila Dual System Model for Investigating Human Microcephaly.
Cells
; 11(17)2022 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36078134
9.
Results from Genetic Studies in Patients Affected with Craniosynostosis: Clinical and Molecular Aspects.
Front Mol Biosci
; 9: 865494, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35591945
10.
Clinical and molecular characterization of craniofrontonasal syndrome: new symptoms and novel pathogenic variants in the EFNB1 gene.
Orphanet J Rare Dis
; 16(1): 286, 2021 06 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-34174922
11.
Further Delineation of Phenotype and Genotype of Primary Microcephaly Syndrome with Cortical Malformations Associated with Mutations in the WDR62 Gene.
Genes (Basel)
; 12(4)2021 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-33921653
12.
The MED13L haploinsufficiency syndrome associated with de novo nonsense variant (P.GLN1981*).
J Mother Child
; 24(3): 32-36, 2021 Apr 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-33930262
13.
Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly.
Genes (Basel)
; 12(12)2021 12 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34946966
14.
Posterior Neocortex-Specific Regulation of Neuronal Migration by CEP85L Identifies Maternal Centriole-Dependent Activation of CDK5.
Neuron
; 106(2): 246-255.e6, 2020 04 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-32097629
15.
A Patient with Berardinelli-Seip Syndrome, Novel AGPAT2 Splicesite Mutation and Concomitant Development of Non-diabetic Polyneuropathy
J Clin Res Pediatr Endocrinol
; 11(3): 319-326, 2019 09 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30563316
16.
Comprehensive genomic analysis of patients with disorders of cerebral cortical development.
Eur J Hum Genet
; 26(8): 1121-1131, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29706646
17.
PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies.
Pediatr Neurol
; 60: 83-7, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27343026
18.
Complex interplay between the length and composition of the huntingtin-derived peptides modulates the intracellular behavior of the N-terminal fragments of mutant huntingtin.
Eur J Cell Biol
; 94(5): 179-89, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25773959
19.
Malaria's deadly secret: a skin stage.
Trends Parasitol
; 28(4): 142-50, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22300807
20.
Why functional pre-erythrocytic and bloodstage malaria vaccines fail: a meta-analysis of fully protective immunizations and novel immunological model.
PLoS One
; 5(5): e10685, 2010 May 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-20502667