Detalhe da pesquisa
1.
Predicting the impact of rare variants on RNA splicing in CAGI6.
Hum Genet
; 2024 Jan 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38170232
2.
A novel variant in GATM causes idiopathic renal Fanconi syndrome and predicts progression to end-stage kidney disease.
Clin Genet
; 103(2): 214-218, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36148635
3.
SHOX Whole Gene Duplications Are Overrepresented in SHOX Haploinsufficiency Phenotype Cohorts.
Cytogenet Genome Res
; 162(11-12): 587-598, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36927524
4.
AIFM1-associated X-linked spondylometaphyseal dysplasia with cerebral hypomyelination.
Am J Med Genet A
; 185(4): 1228-1235, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33439541
5.
Directly Transmitted 12.3-Mb Deletion with a Consistent Phenotype in the Variable 11q21q22.3 Region.
Cytogenet Genome Res
; 160(4): 185-192, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32316019
6.
Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance.
Genet Med
; 22(6): 1005-1014, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32123317
7.
Correction: Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance.
Genet Med
; 22(6): 1129, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32235935
8.
Screening of a large Rubinstein-Taybi cohort identified many novel variants and emphasizes the importance of the CREBBP histone acetyltransferase domain.
Am J Med Genet A
; 182(11): 2508-2520, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32827181
9.
New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.
Hum Genet
; 138(8-9): 1027-1042, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-29464339
10.
Incomplete penetrance, variable expressivity, or dosage insensitivity in four families with directly transmitted unbalanced chromosome abnormalities.
Am J Med Genet A
; 176(2): 319-329, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29194955
11.
Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease.
BMC Nephrol
; 19(1): 301, 2018 10 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-30376835
12.
Further defining the phenotypic spectrum of B4GALT7 mutations.
Am J Med Genet A
; 170(6): 1556-63, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26940150
13.
Duplications upstream and downstream of SHOX identified as novel causes of Leri-Weill dyschondrosteosis or idiopathic short stature.
Am J Med Genet A
; 170A(4): 949-57, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26698168
14.
Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis.
Nephrol Dial Transplant
; 31(6): 961-70, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26346198
15.
Comparison of mutation profiles in the Duchenne muscular dystrophy gene among populations: implications for potential molecular therapies.
Int J Mol Sci
; 16(3): 5334-46, 2015 Mar 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-25761239
16.
Homozygosity for a novel deletion downstream of the SHOX gene provides evidence for an additional long range regulatory region with a mild phenotypic effect.
Am J Med Genet A
; 164A(11): 2764-8, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25125269
17.
Mutation spectrum of dystrophin gene in malaysian patients with Duchenne/Becker muscular dystrophy.
J Neurogenet
; 27(1-2): 11-5, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23438214
18.
Exome analysis resolves differential diagnosis of familial kidney disease and uncovers a potential confounding variant.
Genet Res (Camb)
; 95(6): 165-73, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24472419
19.
Diagnostic screening identifies a wide range of mutations involving the SHOX gene, including a common 47.5 kb deletion 160 kb downstream with a variable phenotypic effect.
Am J Med Genet A
; 161A(6): 1329-38, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23636926
20.
Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study.
Lancet Oncol
; 12(1): 49-55, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21145788