Detalhe da pesquisa
1.
Predictors and risk model development for menopausal age in fragile X premutation carriers.
Genet Med
; 13(7): 643-50, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21597380
2.
Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice.
Acta Neuropathol
; 122(4): 467-79, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21785977
3.
X chromosome inactivation does not define the development of premature ovarian failure in fragile X premutation carriers.
Am J Med Genet A
; 152A(2): 387-93, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20101683
4.
Detection of chromosome aneuploidies in chorionic villus samples by multiplex ligation-dependent probe amplification.
J Mol Diagn
; 11(1): 17-24, 2009 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19074591
5.
Considering factors affecting the parental decision to abort after a prenatal diagnosis of a sex chromosome abnormality.
Genet Med
; 14(5): 558-9; author reply 559, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22555768
6.
Lysosomal storage diseases in non-immune hydrops fetalis pregnancies.
Clin Chim Acta
; 371(1-2): 176-82, 2006 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-16674934
7.
A new locus for postaxial polydactyly type A/B on chromosome 7q21-q34.
Eur J Hum Genet
; 11(5): 409-15, 2003 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-12734547
8.
Women's Attitudes towards the Option to Choose between Karyotyping and Rapid Targeted Testing during Pregnancy.
Obstet Gynecol Int
; 2013: 636459, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23737796
9.
Why do parents prefer to know the fetal sex as part of invasive prenatal testing?
ISRN Obstet Gynecol
; 2012: 524537, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23304540
10.
Parent's attitudes towards full-scale prenatal testing for genetic disorders.
J Psychosom Obstet Gynaecol
; 30(1): 42-7, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19308782
11.
Detection of cryptic subtelomeric imbalances in fetuses with ultrasound abnormalities.
Eur J Med Genet
; 51(6): 511-9, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18691679
12.
Multiplex ligation-dependent probe amplification (MLPA) as a stand-alone test for rapid aneuploidy detection in amniotic fluid cells.
Prenat Diagn
; 28(11): 1004-10, 2008 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-18925610
13.
Fetal anomaly scan potentially will replace routine AFAFP assays for the detection of neural tube defects.
Prenat Diagn
; 27(1): 29-33, 2007 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17154227