Detalhe da pesquisa
1.
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
2.
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
3.
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
4.
Could Digital PCR Be an Alternative as a Non-Invasive Prenatal Test for Trisomy 21: A Proof of Concept Study.
PLoS One;
11(5): e0155009, 2016.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27167625
5.
Familial reciprocal translocation t(7;16) associated with maternal uniparental disomy 7 in a Silver-Russell patient.
Am J Med Genet;
111(4): 405-8, 2002 Sep 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-12210300
6.
3D-FISH analysis reveals chromatid cohesion defect during interphase in Roberts syndrome.
Mol Cytogenet;
7(1): 59, 2014.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25320640
7.
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
8.
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
9.
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