Detalhe da pesquisa
1.
Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT).
Kidney Int
; 105(4): 844-864, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38154558
2.
Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome.
Hum Mutat
; 41(12): 2179-2194, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33131181
3.
Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome.
J Med Genet
; 56(4): 261-264, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30120217
4.
Mutations in the human UBR1 gene and the associated phenotypic spectrum.
Hum Mutat
; 35(5): 521-31, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24599544
5.
Implication of FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT).
medRxiv
; 2023 Mar 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-36993625
6.
Cloning, expression and characterization of the murine orthologue of SBF2, the gene mutated in Charcot-Marie-Tooth disease type 4B2.
Gene Expr Patterns
; 6(8): 978-84, 2006 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-16750429
7.
Tectonic gene mutations in patients with Joubert syndrome.
Eur J Hum Genet
; 23(5): 616-20, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25118024
8.
Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with novel connexin 32 mutation.
Arch Neurol
; 60(4): 605-9, 2003 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-12707076
9.
Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4.
Am J Hum Genet
; 81(1): 158-64, 2007 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-17564972
10.
Cerebral, cerebellar, and colobomatous anomalies in three related males: Sex-linked inheritance in a newly recognized syndrome with features overlapping with Joubert syndrome.
Am J Med Genet A
; 135(3): 297-301, 2005 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-15887274
11.
Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15.
Hum Mol Genet
; 12(3): 349-56, 2003 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-12554688
12.
Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy.
Brain
; 126(Pt 3): 642-9, 2003 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-12566285
13.
Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.
Am J Hum Genet
; 73(5): 1106-19, 2003 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-14574644