Detalhe da pesquisa
1.
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.
Am J Hum Genet
; 97(2): 311-8, 2015 Aug 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26166481
2.
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
3.
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
4.
Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome.
J Med Genet
; 49(11): 713-20, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23125460
5.
Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations.
J Med Genet
; 49(11): 698-707, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23024289
6.
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
7.
High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy.
Hum Mutat
; 31(10): 1134-41, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20690116
8.
Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1.
Birth Defects Res
; 110(6): 538-542, 2018 04 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29316359
9.
A novel KIF7 mutation in two affected siblings with acrocallosal syndrome.
Clin Dysmorphol
; 24(2): 61-4, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25714560
10.
New insights into genotype-phenotype correlation for GLI3 mutations.
Eur J Hum Genet
; 23(1): 92-102, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24736735