Detalhe da pesquisa
1.
Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature.
Genet Med;
20(6): 630-638, 2018 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29758562
2.
Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot.
J Med Genet;
47(5): 321-31, 2010 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19948535
3.
Disruption of ST5 is associated with mental retardation and multiple congenital anomalies.
J Med Genet;
47(2): 91-8, 2010 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19843505
4.
A 15Mb duplication of 6q24.1-q25.3 associated with typical but milder features of the duplication 6q syndrome.
Eur J Med Genet;
51(4): 358-61, 2008.
Artigo
em Inglês
| MEDLINE
| ID: mdl-18342594
5.
A de novo 7.6Mb tandem duplication of 14q32.2-qter associated with primordial short stature with neurosecretory growth hormone dysfunction, distinct facial anomalies and mild developmental delay.
Eur J Med Genet;
51(4): 362-7, 2008.
Artigo
em Inglês
| MEDLINE
| ID: mdl-18434272
6.
Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays.
J Med Genet;
44(10): 629-36, 2007 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-17601928
7.
Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium.
Sci Rep;
8(1): 17201, 2018 11 21.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30464253
8.
New immortalized cell lines of patients with small supernumerary marker chromosome: towards the establishment of a cell bank.
J Histochem Cytochem;
55(6): 651-60, 2007 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-17341473
9.
Mother and daughter with a terminal Xp deletion: implication of chromosomal mosaicism and X-inactivation in the high clinical variability of the microphthalmia with linear skin defects (MLS) syndrome.
Eur J Med Genet;
50(6): 421-31, 2007.
Artigo
em Inglês
| MEDLINE
| ID: mdl-17845869
10.
Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature.
Sci Rep;
7(1): 12225, 2017 09 22.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28939912
11.
9 Mb deletion including chromosome band 3q24 associated with unsuspicious facial gestalt, persistent ductus omphaloentericus, mild mental retardation and tic.
Eur J Med Genet;
48(3): 360-2, 2005.
Artigo
em Inglês
| MEDLINE
| ID: mdl-16179233
12.
Breakpoint differentiation in chromosomal aberrations of hematological malignancies: Identification of 33 previously unrecorded breakpoints.
Int J Oncol;
24(1): 127-36, 2004 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-14654949
13.
Familial short stature due to a 5q22.1-q23.2 duplication refines the 5q duplication spectrum.
Eur J Med Genet;
54(5): e521-4, 2011.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21777705
14.
Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome-like phenotype and hyperactivated MAPK signaling in humans and mice.
J Clin Invest;
121(9): 3479-91, 2011 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21804188
15.
6.7 Mb interstitial duplication in chromosome band 11q24.2q25 associated with infertility, minor dysmorphic features and normal psychomotor development.
Eur J Med Genet;
51(6): 666-71, 2008.
Artigo
em Inglês
| MEDLINE
| ID: mdl-18757044
16.
A male infant with a 9.6 Mb terminal Xp deletion including the OA1 locus: Limit of viability of Xp deletions in males.
Am J Med Genet A;
143A(2): 135-41, 2007 Jan 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-17163525
17.
Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation.
Am J Med Genet A;
140(19): 2063-74, 2006 Oct 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-16917849
18.
Clinical, cytogenetic and molecular characterization of a patient with combined succinic semialdehyde dehydrogenase deficiency and incomplete WAGR syndrome with obesity.
Mol Genet Metab;
88(3): 256-60, 2006 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-16545979
19.
Severe, neonatal-onset OTC deficiency in twin sisters with a de novo balanced reciprocal translocation t(X;5)(p21.1;q11).
Am J Med Genet A;
132A(2): 185-8, 2005 Jan 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-15578616
20.
A novel 5q35.3 subtelomeric deletion syndrome.
Am J Med Genet A;
121A(1): 1-8, 2003 Aug 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-12900893