Detalhe da pesquisa
1.
Successful PGD cycles for mosaic Robertsonian translocation carriers provide insights into the mechanism of formation of the derivative chromosomes.
Am J Med Genet A
; 161A(3): 566-71, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23401053
2.
Care needed in interpretation of chromosome rearrangements.
Reprod Biomed Online
; 37(5): 651, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30385143
3.
Tissue-specific mosaicism for tetrasomy 9p uncovered by array CGH.
Am J Med Genet A
; 155A(10): 2496-2500, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21998854
4.
Rare CNVs provide novel insights into the molecular basis of GH and IGF-1 insensitivity.
Eur J Endocrinol
; 183(6): 581-595, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33055295
5.
Xq27.1 Duplication Encompassing SOX3: Variable Phenotype and Smallest Duplication Associated with Hypopituitarism to Date - A Large Case Series of Unrelated Patients and a Literature Review.
Horm Res Paediatr
; 92(6): 382-389, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31678974
6.
Array comparative genomic hybridization (array CGH) for detection of genomic copy number variants.
J Vis Exp
; (96): e51718, 2015 Feb 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-25742425
7.
Class II neocentromeres: a putative common neocentromere site in band 4q21.2.
Eur J Hum Genet
; 11(10): 749-53, 2003 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-14512964
8.
Meiotic outcomes of three-way translocations ascertained in cleavage-stage embryos: refinement of reproductive risks and implications for PGD.
Eur J Hum Genet
; 22(6): 748-53, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24129433
9.
A new direction for prenatal chromosome microarray testing: software-targeting for detection of clinically significant chromosome imbalance without equivocal findings.
PeerJ
; 2: e354, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24795849
10.
Multicolor banding remains an important adjunct to array CGH and conventional karyotyping.
Mol Cytogenet
; 6(1): 55, 2013 Dec 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-24314262
11.
Array CGH as a first line diagnostic test in place of karyotyping for postnatal referrals - results from four years' clinical application for over 8,700 patients.
Mol Cytogenet
; 6(1): 16, 2013 Apr 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-23560982
12.
M-banding characterization of a 16p11.2p13.1 tandem duplication in a child with autism, neurodevelopmental delay and dysmorphism.
Eur J Med Genet
; 51(6): 608-14, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18674645
13.
Multicolor banding detects a complex three chromosome, seven breakpoint unbalanced rearrangement in an ICSI-derived fetus with multiple abnormalities.
Am J Med Genet A
; 140(10): 1102-7, 2006 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-16596677