Detalhe da pesquisa
1.
Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group.
Genet Med
; 26(3): 101036, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38054408
2.
Detecting regions of homozygosity improves the diagnosis of pathogenic variants and uniparental disomy in pediatric patients.
Am J Med Genet A
; 188(6): 1728-1738, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35199448
3.
Common genetic variants on 5p14.1 associate with autism spectrum disorders.
Nature
; 459(7246): 528-33, 2009 May 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-19404256
4.
Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways.
Hum Mol Genet
; 21(15): 3513-23, 2012 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22543975
5.
Maternal Uniparental Isodisomy of Chromosome 2 Leading to Homozygous Variants in SPR and ZNF142 : A Case Report and Review of the UPD2 Literature.
Glob Med Genet
; 11(1): 100-112, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38533443
6.
KIF6 Trp719Arg Genetic Variant Increases Risk for Thoracic Aortic Dissection.
Genes (Basel)
; 14(2)2023 01 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-36833179
7.
Genetic analysis of biological pathway data through genomic randomization.
Hum Genet
; 129(5): 563-71, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21279722
8.
Microduplications in an autism multiplex family narrow the region of susceptibility for developmental disorders on 15q24 and implicate 7p21.
Am J Med Genet B Neuropsychiatr Genet
; 156B(4): 493-501, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21480499
9.
Variation in WNT genes is associated with non-syndromic cleft lip with or without cleft palate.
Hum Mol Genet
; 17(14): 2212-8, 2008 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18413325
10.
A genome-wide association study of autism reveals a common novel risk locus at 5p14.1.
Ann Hum Genet
; 73(Pt 3): 263-73, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19456320
11.
Determinants of skeletal age deviation in a cross-sectional study.
J Clin Endocrinol Metab
; 93(2): 521-6, 2008 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18056773
12.
Bone density interpretation and relevance in Caucasian children aged 9-17 years of age: insights from a population-based fracture study.
J Clin Densitom
; 9(2): 202-9, 2006.
Artigo
em Inglês
| MEDLINE | ID: mdl-16785082
13.
Synovial haemangioma of the knee: a case report.
Clin Rheumatol
; 25(5): 753-5, 2006 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-16247588
14.
Skeletal age deviation assessed by the Tanner-Whitehouse 2 method is associated with bone mass and fracture risk in children.
Bone
; 36(2): 352-7, 2005 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-15780962
15.
Extension of multifactor dimensionality reduction for identifying multilocus effects in the GAW14 simulated data.
BMC Genet
; 6 Suppl 1: S145, 2005 Dec 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-16451605
16.
Television, computer, and video viewing; physical activity; and upper limb fracture risk in children: a population-based case control study.
J Bone Miner Res
; 18(11): 1970-7, 2003 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-14606509
17.
The association between bone mineral density, metacarpal morphometry, and upper limb fractures in children: a population-based case-control study.
J Clin Endocrinol Metab
; 88(4): 1486-91, 2003 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-12679427
18.
A de novo 10.79 Mb interstitial deletion at 2q13q14.2 involving PAX8 causing hypothyroidism and mullerian agenesis: a novel case report and literature review.
Mol Cytogenet
; 7(1): 85, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25484916
19.
Evidence of novel fine-scale structural variation at autism spectrum disorder candidate loci.
Mol Autism
; 3: 2, 2012 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-22472195
20.
The expanding role of MBD genes in autism: identification of a MECP2 duplication and novel alterations in MBD5, MBD6, and SETDB1.
Autism Res
; 5(6): 385-97, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23055267