Detalhe da pesquisa
1.
Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation.
Am J Hum Genet
; 109(5): 909-927, 2022 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35390279
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.
Broadening the phenotypic spectrum of TUBA1A tubulinopathy to syndromic arthrogryposis multiplex congenita.
Am J Med Genet A
; 188(8): 2331-2338, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35686685
4.
Prenatal Diagnosis of COL4A1 Mutations in Eight Cases: Further Delineation of the Neurohistopathological Phenotype.
Pediatr Dev Pathol
; 25(4): 435-446, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35382634
5.
Evidence of disrupted rhombic lip development in the pathogenesis of Dandy-Walker malformation.
Acta Neuropathol
; 142(4): 761-776, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34347142
6.
PAK3 mutations responsible for severe intellectual disability and callosal agenesis inhibit cell migration.
Neurobiol Dis
; 136: 104709, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31843706
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.
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
9.
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
10.
Severe and progressive neuronal loss in myelomeningocele begins before 16 weeks of pregnancy.
Am J Obstet Gynecol
; 223(2): 256.e1-256.e9, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32283072
11.
SOX3 duplication: A genetic cause to investigate in fetuses with neural tube defects.
Prenat Diagn
; 39(11): 1026-1034, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31299102
12.
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
13.
Fetal cerebral hemorrhage due to X-linked GATA1 gene mutation.
Prenat Diagn
; 38(10): 772-778, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29949202
14.
Corpus Callosum Abnormalities and Short Femurs in Beckwith-Wiedemann Syndrome: A Report of Two Fetal Cases.
Fetal Pediatr Pathol
; 37(6): 411-417, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30595068
15.
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.
Hum Mol Genet
; 23(9): 2279-89, 2014 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24319099
16.
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
17.
Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis.
Nat Genet
; 39(4): 454-6, 2007 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-17353897
18.
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.
Nat Genet
; 39(7): 875-81, 2007 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-17558409
19.
Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly.
Am J Hum Genet
; 91(6): 1135-43, 2012 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23217329
20.
TCTN3 mutations cause Mohr-Majewski syndrome.
Am J Hum Genet
; 91(2): 372-8, 2012 Aug 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-22883145