Detalhe da pesquisa
1.
Loss-of-function variants in ZEB1 cause dominant anomalies of the corpus callosum with favourable cognitive prognosis.
J Med Genet
; 61(3): 244-249, 2024 Feb 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37857482
2.
Neuropathological hallmarks of antenatal mitochondrial diseases with a corpus callosum defect.
Brain
; 146(5): 1804-1811, 2023 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36349561
3.
Artificial intelligence-based diagnosis in fetal pathology using external ear shapes.
Prenat Diagn
; 2024 Apr 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38635411
4.
Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals.
J Med Genet
; 60(4): 337-345, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35927022
5.
The first two non-Finnish HYLS1 variants: Expanding the phenotypic spectrum of hydrolethalus syndrome.
Clin Genet
; 100(4): 462-467, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34212369
6.
Hydrothorax in fetal cases of Opitz G/BBB diagnosis: Extending the phenotype?
Clin Genet
; 98(6): 620-621, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32926417
7.
Fetal megacystis-microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate gene.
Clin Genet
; 98(3): 261-273, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32621347
8.
Prenatal diagnosis of cerebro-oculo-facio-skeletal syndrome: Report of three fetuses and review of the literature.
Am J Med Genet A
; 182(5): 1236-1242, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32052936
9.
Cilia in hereditary cerebral anomalies.
Biol Cell
; 111(9): 217-231, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31177551
10.
Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesis.
Am J Med Genet A
; 176(7): 1610-1613, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29704304
11.
Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies.
Am J Med Genet A
; 176(5): 1091-1098, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29681083
12.
Novel CDK10 variants with multicystic dysplastic kidney, left ventricular non-compaction, and a solitary median maxillary central incisor.
Clin Genet
; 100(3): 348-349, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34114225
13.
Clinical, genetic and neuropathological findings in a series of 138 fetuses with a corpus callosum malformation.
Birth Defects Res A Clin Mol Teratol
; 106(1): 36-46, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26663670
14.
Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients.
Hum Mutat
; 35(4): 478-85, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24470203
15.
Expanding the phenotypic spectrum of LIG4 pathogenic variations: neuro-histopathological description of 4 fetuses with stenosis of the aqueduct.
Eur J Hum Genet
; 32(5): 545-549, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38351293
16.
Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex component 2, lead to non-communicating hydrocephalus due to atresia of the aqueduct of sylvius and central canal of the medulla.
Acta Neuropathol Commun
; 11(1): 29, 2023 02 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36803301
17.
Diagnosis of Menke-Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs.
Mol Genet Genomic Med
; 11(9): e2219, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37353886
18.
AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapes.
Front Pediatr
; 11: 1171277, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37664547
19.
ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability.
Brain
; 139(11): e64, 2016 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27474218
20.
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