Detalhe da pesquisa
1.
Germline mutations in cancer predisposition genes among pediatric patients with cancer and congenital anomalies.
Pediatr Res
; 95(5): 1346-1355, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38182823
2.
Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes.
Clin Endocrinol (Oxf)
; 88(3): 425-431, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29265571
3.
Skewed X-chromosome Inactivation in Women with Idiopathic Intellectual Disability is Indicative of Pathogenic Variants.
Mol Neurobiol
; 60(7): 3758-3769, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-36943625
4.
Rare variants in the MECP2 gene in girls with central precocious puberty: a translational cohort study.
Lancet Diabetes Endocrinol
; 11(8): 545-554, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37385287
5.
Germline DNA copy number variation in familial and early-onset breast cancer.
Breast Cancer Res
; 14(1): R24, 2012 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-22314128
6.
Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver-Russell syndrome.
Am J Med Genet A
; 155A(10): 2479-83, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21910219
7.
Sex differences in the dorsolateral telencephalon correlate with home range size in blenniid fish.
Brain Behav Evol
; 77(1): 55-64, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21325815
8.
Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin-Siris Syndrome.
Front Genet
; 12: 708348, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34512724
9.
DNA methylation fingerprint of monozygotic twins and their singleton sibling with intellectual disability carrying a novel KDM5C mutation.
Eur J Med Genet
; 63(3): 103737, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-31419599
10.
Insights in Osteosarcoma by Proton Nuclear Magnetic Resonance Serum Metabonomics.
Front Oncol
; 10: 506959, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33178572
11.
Evaluation of clinical checklists for fragile X syndrome screening in Brazilian intellectually disabled males: proposal for a new screening tool.
J Intellect Disabil
; 13(3): 239-48, 2009 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-19786505
12.
Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases.
Appl Clin Genet
; 11: 93-98, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30174453
13.
Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause.
Horm Res Paediatr
; 89(1): 13-21, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29130988
14.
Signalling by tips.
Curr Opin Plant Biol
; 7(5): 589-98, 2004 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-15337103
15.
Inherited Xq13.2-q21.31 duplication in a boy with recurrent seizures and pubertal gynecomastia: Clinical, chromosomal and aCGH characterization.
Meta Gene
; 9: 185-90, 2016 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-27617217
16.
A novel de novo microdeletion spanning the SYNGAP1 gene on the short arm of chromosome 6 associated with mental retardation.
Am J Med Genet A
; 152A(9): 2376-8, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20683986
17.
Dental developmental abnormalities in a patient with subtelomeric 7q36 deletion syndrome may confirm a novel role for the SHH gene.
Meta Gene
; 2: 16-24, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25606385
18.
Genome-wide screening of copy number variants in children born small for gestational age reveals several candidate genes involved in growth pathways.
Eur J Endocrinol
; 171(2): 253-62, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24878679
19.
Array-CGH testing in spontaneous abortions with normal karyotypes
Genet. mol. biol
; 31(2): 416-422, 2008. graf, tab
Artigo
em Inglês
| LILACS | ID: lil-484976
20.
Clinical checklists in the selection of mentally retarded males for molecular screening of fragile X syndrome
Genet. mol. biol
; 30(4): 1047-1050, 2007. tab
Artigo
em Inglês
| LILACS | ID: lil-471025