Detalhe da pesquisa
1.
Evaluation of Quantitative Fluorescence in situ Hybridization for Relative Measurement of Telomere Length in Placental Mesenchymal Core Cells.
Gynecol Obstet Invest
; 81(1): 54-60, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-25998012
2.
Type 3 confined placental mosaicisms excluding trisomies 16 are also associated with adverse pregnancy outcomes.
Genet Med
; 22(2): 446-447, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31570802
3.
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.
Nat Genet
; 33(4): 463-5, 2003 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-12627230
4.
A homozygous balanced reciprocal translocation suggests LINC00237 as a candidate gene for MOMO (macrosomia, obesity, macrocephaly, and ocular abnormalities) syndrome.
Am J Med Genet A
; 158A(11): 2849-56, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23034868
5.
Proportion of parents agreeing to delay fetal karyotyping until the third trimester of pregnancy in cases with an indication.
Fetal Diagn Ther
; 31(2): 115-21, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22301792
6.
Confined placental mosaicism and pregnancy outcome: a distinction needs to be made between types 2 and 3.
Prenat Diagn
; 30(12-13): 1155-64, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20936639
7.
[Maze-like vascular anomaly in partial mole. Interest for the pathological diagnosis of partial mole on chorionic villous sampling]. / Aspect labyrinthique des vaisseaux villositaires dans les môles partielles. Intérêt pour le diagnostic anatomopathologique de môle partielle sur biopsie de villosités choriales.
Ann Pathol
; 29(5): 424-7, 2009 Oct.
Artigo
em Francês
| MEDLINE | ID: mdl-20004848
8.
[Advantages and limitations of chorionic villous sampling]. / Intérêt et limites de l'examen histopathologique des biopsies de villosités choriales.
Bull Acad Natl Med
; 193(3): 675-89; discussion 689-90, 2009 Mar.
Artigo
em Francês
| MEDLINE | ID: mdl-19883018
9.
Nutritional and genetic determinants of vitamin B and homocysteine metabolisms in neural tube defects: a multicenter case-control study.
Am J Med Genet A
; 146A(9): 1128-33, 2008 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18386810
10.
Comment on "Confined placental mosaicism at chorionic villous sampling: risk factors and pregnancy outcome".
Prenat Diagn
; 33(3): 301-2, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23456996
11.
Comment on "QF-PCR as a substitute for karyotyping of cytotrophoblast for the analysis of chorionic villi: advantages and limitations from a cytogenetic retrospective audit of 44 727 first-trimester prenatal diagnoses".
Prenat Diagn
; 33(11): 1115-6, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23868568
12.
Confined placental mosaicism revisited: Impact on pregnancy characteristics and outcome.
PLoS One
; 13(4): e0195905, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29649318
13.
Prenatal diagnosis on chorionic villi using molecular techniques should be performed from mesenchymal core rather than from direct villi.
Prenat Diagn
; 31(11): 1111-2; author reply 1113, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22021008
14.
A freehand ultrasonographically guided technique in transabdominal chorionic villus sampling in more than 24 000 consecutive cases.
Prenat Diagn
; 30(4): 387-8; author reply 389, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20373488
15.
[Smith-Lemli-Opitz syndrome]. / Syndrome de Smith-Lemli-Opitz.
Ann Pathol
; 25(4): 318-21, 2005 Sep.
Artigo
em Francês
| MEDLINE | ID: mdl-16327658
16.
Prenatal diagnosis using array-CGH: a French experience.
Eur J Med Genet
; 56(7): 341-5, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23454632
17.
Reduced placental telomere length during pregnancies complicated by intrauterine growth restriction.
PLoS One
; 8(1): e54013, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23326560
18.
An unusual chromosome 22q11 deletion associated with an apparent complementary ring chromosome in a phenotypically normal woman.
Eur J Med Genet
; 54(3): 292-4, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21215339
19.
Characterization of a de novo balanced translocation t(9;18)(p23;q12.2) in a patient with oculoauriculovertebral spectrum.
Eur J Med Genet
; 53(2): 104-7, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20132917
20.
The common fragile site FRA16C does not map within the 16q smallest region of overlap number 2 frequently lost in breast carcinoma.
Cancer Genet Cytogenet
; 144(1): 85-6, 2003 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-12810264