Detalhe da pesquisa
1.
Prevalence of kidney health genetic variants in adults with sickle cell nephropathy.
Br J Haematol
; 2024 May 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38735682
2.
Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases.
Nephrol Dial Transplant
; 36(2): 295-305, 2021 01 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-31738409
3.
Suspected Autosomal Recessive Polycystic Kidney Disease but Cerebellar Vermis Hypoplasia, Oligophrenia Ataxia, Coloboma, and Hepatic Fibrosis (COACH) Syndrome in Retrospect, A Delayed Diagnosis Aided by Genotyping and Reverse Phenotyping: A Case Report and A Review of the Literature.
Nephron
; 148(4): 264-272, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-36617405
4.
Expression and mutation analyses implicate ARHGAP29 as the etiologic gene for the cleft lip with or without cleft palate locus identified by genome-wide association on chromosome 1p22.
Birth Defects Res A Clin Mol Teratol
; 94(11): 934-42, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23008150
5.
CRISPLD2 variants including a C471T silent mutation may contribute to nonsyndromic cleft lip with or without cleft palate.
Cleft Palate Craniofac J
; 48(4): 363-70, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20815724
6.
Genome scan, fine-mapping, and candidate gene analysis of non-syndromic cleft lip with or without cleft palate reveals phenotype-specific differences in linkage and association results.
Hum Hered
; 68(3): 151-70, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19521098
7.
Identification of Isthmin 1 as a Novel Clefting and Craniofacial Patterning Gene in Humans.
Genetics
; 208(1): 283-296, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29162626
8.
Familial hyperkalemic hypertension: hyperkalemia not hypertension defines dominant KLHL3 disease and may permit earlier recognition and tailored therapy.
J Nephrol
; 35(6): 1737-1742, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35000137
9.
Ketogenic diet - A novel treatment for early epileptic encephalopathy due to PIGA deficiency.
Brain Dev
; 38(9): 848-51, 2016 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-27126216
10.
Reducing the Cost of the Diagnostic Odyssey in Early Onset Epileptic Encephalopathies.
Biomed Res Int
; 2016: 6421039, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27243033
11.
A mutation in mouse Pak1ip1 causes orofacial clefting while human PAK1IP1 maps to 6p24 translocation breaking points associated with orofacial clefting.
PLoS One
; 8(7): e69333, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23935987
12.
Impaired FGF signaling contributes to cleft lip and palate.
Proc Natl Acad Sci U S A
; 104(11): 4512-7, 2007 Mar 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-17360555
13.
Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35.
Am J Hum Genet
; 75(2): 161-73, 2004 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-15185170
14.
CRISPLD2 variants including a C471T silent mutation may contribute to nonsyndromic cleft lip with or without cleft palate
Artigo
em Inglês
| ARCA | ID: arc-16720