Detalhe da pesquisa
1.
Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases.
Hum Genomics
; 17(1): 45, 2023 06 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37269011
2.
Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.
Genet Med
; 23(8): 1484-1491, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33833411
3.
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.
PLoS Genet
; 10(9): e1004580, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25188300
4.
Mutations in BCAP31 cause a severe X-linked phenotype with deafness, dystonia, and central hypomyelination and disorganize the Golgi apparatus.
Am J Hum Genet
; 93(3): 579-86, 2013 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-24011989
5.
Correction to: Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.
Genet Med
; 23(8): 1585, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34257424
6.
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
PLoS Genet
; 8(2): e1002521, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22346768
7.
Perilipin deficiency and autosomal dominant partial lipodystrophy.
N Engl J Med
; 364(8): 740-8, 2011 Feb 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-21345103
8.
WFS1 mutations are frequent monogenic causes of juvenile-onset diabetes mellitus in Lebanon.
Hum Mol Genet
; 17(24): 4012-21, 2008 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18806274
9.
Genome sequencing in cytogenetics: Comparison of short-read and linked-read approaches for germline structural variant detection and characterization.
Mol Genet Genomic Med
; 8(3): e1114, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31985172
10.
Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy.
J Clin Endocrinol Metab
; 93(4): 1129-34, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18211975
11.
Performance comparison of three DNA extraction kits on human whole-exome data from formalin-fixed paraffin-embedded normal and tumor samples.
PLoS One
; 13(4): e0195471, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29621323
12.
Fibrinogen and coronary heart disease: test of causality by 'Mendelian randomization'.
Int J Epidemiol
; 35(4): 935-43, 2006 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-16870675
13.
Maladaptative Autophagy Impairs Adipose Function in Congenital Generalized Lipodystrophy due to Cavin-1 Deficiency.
J Clin Endocrinol Metab
; 101(7): 2892-904, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27144934
14.
Variations of SOST mRNA expression in human bone are associated with DNA polymorphism and DNA methylation in the SOST gene.
Bone
; 92: 107-115, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27519970
15.
Molecular analysis of Berardinelli-Seip congenital lipodystrophy in Oman: evidence for multiple loci.
Diabetes
; 51(4): 1291-3, 2002 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-11916958
16.
Prevalence of mutations in AGPAT2 among human lipodystrophies.
Diabetes
; 52(6): 1573-8, 2003 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-12765973
17.
Polymorphisms in type II SH2 domain-containing inositol 5-phosphatase (INPPL1, SHIP2) are associated with physiological abnormalities of the metabolic syndrome.
Diabetes
; 53(7): 1900-4, 2004 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-15220217
18.
Wolcott-Rallison Syndrome: clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity.
Diabetes
; 53(7): 1876-83, 2004 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-15220213
19.
Deep sequencing of the Trypanosoma cruzi GP63 surface proteases reveals diversity and diversifying selection among chronic and congenital Chagas disease patients.
PLoS Negl Trop Dis
; 9(4): e0003458, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25849488
20.
Lipid-related genes and myocardial infarction in 4685 cases and 3460 controls: discrepancies between genotype, blood lipid concentrations, and coronary disease risk.
Int J Epidemiol
; 33(5): 1002-13, 2004 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-15256516