Detalhe da pesquisa
1.
Evaluating the effects of moonlight on the vertical flight profiles of three western palaearctic swifts.
Proc Biol Sci
; 290(2010): 20230957, 2023 Nov 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37909073
2.
The Legacy of George M. Martin: From Segmental Progeroid Syndromes to Antigeroid Syndromes.
Cytogenet Genome Res
; 163(5-6): 231-235, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38522422
3.
WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects.
Hum Mutat
; 38(1): 7-15, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27667302
4.
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
5.
Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline.
Hum Mol Genet
; 20(10): 1916-24, 2011 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21349919
6.
Social Responsiveness Scale-aided analysis of the clinical impact of copy number variations in autism.
Neurogenetics
; 12(4): 315-23, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21837366
7.
No association between a common single nucleotide polymorphism, rs4141463, in the MACROD2 gene and autism spectrum disorder.
Am J Med Genet B Neuropsychiatr Genet
; 156B(6): 633-9, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21656903
8.
Prevalence and Phenotypic Impact of Robertsonian Translocations.
Mol Syndromol
; 12(1): 1-11, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33776621
9.
Telomere healing following DNA polymerase arrest-induced breakages is likely the main mechanism generating chromosome 4p terminal deletions.
Hum Mutat
; 31(12): 1343-51, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20886614
10.
Disruption of CNTNAP2 and additional structural genome changes in a boy with speech delay and autism spectrum disorder.
Neurogenetics
; 11(1): 81-9, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19582487
11.
WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations.
Hum Genet
; 128(1): 103-11, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20443122
12.
A three-step workflow procedure for the interpretation of array-based comparative genome hybridization results in patients with idiopathic mental retardation and congenital anomalies.
Genet Med
; 12(8): 478-85, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20734469
13.
A co-segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder.
Am J Med Genet B Neuropsychiatr Genet
; 153B(4): 960-6, 2010 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-20029941
14.
A novel 6.14 Mb duplication of chromosome 8p21 in a patient with autism and self mutilation.
J Autism Dev Disord
; 39(2): 322-9, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18696223
15.
Structural Genome Variations Related to Craniosynostosis.
Mol Syndromol
; 10(1-2): 24-39, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30976277
16.
Epigenetic signatures of Werner syndrome occur early in life and are distinct from normal epigenetic aging processes.
Aging Cell
; 18(5): e12995, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31259468
17.
Functional role of the Werner syndrome RecQ helicase in human fibroblasts.
Aging Cell
; 6(1): 53-61, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17266675
18.
Antisense may make sense of 1q44 deletions, seizures, and HNRNPU.
Am J Med Genet A
; 161A(4): 910-2, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23494950
19.
Genes, Proteins, and Biological Pathways Preventing Chromothripsis.
Methods Mol Biol
; 1769: 231-251, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29564828
20.
Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf-Hirschhorn syndrome.
Eur J Hum Genet
; 15(11): 1132-8, 2007 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-17637805