Detalhe da pesquisa
1.
Optical genome mapping enables constitutional chromosomal aberration detection.
Am J Hum Genet
; 108(8): 1409-1422, 2021 08 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34237280
2.
16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations.
J Med Genet
; 57(5): 301-307, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30287593
3.
Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.
J Med Genet
; 56(8): 526-535, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30923172
4.
A de novo 10p11.23-p12.1 deletion recapitulates the phenotype observed in WAC mutations and strengthens the role of WAC in intellectual disability and behavior disorders.
Am J Med Genet A
; 170(7): 1912-7, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27119754
5.
Clinical and molecular delineation of Tetrasomy 9p syndrome: report of 12 new cases and literature review.
Am J Med Genet A
; 167(6): 1252-61, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25847481
6.
First reported case of interstitial 15 q15.3-q21.3 deletion diagnosed prenatally and characterized with array CGH in a fetus with an isolated short femur.
Am J Med Genet A
; 158A(3): 617-21, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22302515
7.
Dose dependent expression of HDAC4 causes variable expressivity in a novel inherited case of brachydactyly mental retardation syndrome.
Am J Med Genet A
; 158A(8): 2015-20, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22753018
8.
Atypical presentations of 22q11.2 deletion syndrome: explaining the genetic defects and genome architecture.
Psychiatry Res
; 197(3): 356-7, 2012 May 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-22365273
9.
Amniocentesis performed for karyotyping after identified ultrasonographic abnormalities: what to expect?
Fetal Diagn Ther
; 31(1): 55-62, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22189057
10.
A Rare Chromosome Rearrangement Leading to de la Chapelle Syndrome with a Mosaic 45,X Cell Line: (46,X,psu dic(X;Y)(p22.13;q11.221)/45,X/45,psu dic(X;Y)(p22.13;q11.221).
Genes (Basel)
; 14(1)2022 12 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-36672822
11.
Unusual isochromosome 5p marker chromosome.
Am J Med Genet A
; 167A(2): 455-9, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25424187
12.
Molecular cytogenetic characterization of the first reported case of inv dup del 20p compatible with a U-type exchange model.
Am J Med Genet A
; 149A(3): 437-45, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19206177
13.
Two cases of mosaicism for complex chromosome rearrangements (CCRM) associated with secondary infertility.
Am J Med Genet A
; 146A(20): 2651-6, 2008 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18798330
14.
Pure familial 6q21q22.1 duplication in two generations.
Eur J Med Genet
; 50(1): 60-5, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-17071147
15.
Neonatal Silver-Russell syndrome with maternal uniparental heterodisomy, trisomy 7 mosaicism, and dysplasia of the cerebellum.
Am J Clin Pathol
; 142(2): 248-53, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25015868
16.
Sperm FISH analysis in two healthy infertile brothers with t(15;18) unbalanced translocation: Implications for genetic counselling and reproductive management.
Eur J Med Genet
; 53(3): 127-32, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20302980
17.
Optimized criteria for using fluorescence in situ hybridization in the prenatal diagnosis of common aneuploidies.
Prenat Diagn
; 28(4): 313-8, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18306148
18.
First reported case of intrachromosomal cryptic inv dup del Xp in a boy with developmental retardation.
Am J Med Genet A
; 143A(11): 1236-43, 2007 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-17497716