Detalhe da pesquisa
1.
Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability.
J Hum Genet
; 69(3-4): 163-167, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38228874
2.
Whole genome sequencing as a first-tier diagnostic test for infants in neonatal intensive care units: A pilot study in Brazil.
Am J Med Genet A
; 194(6): e63544, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38258498
3.
Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome.
J Med Genet
; 60(11): 1127-1132, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37055165
4.
Imagawa-Matsumoto syndrome: SUZ12-related overgrowth disorder.
Clin Genet
; 103(4): 383-391, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36645289
5.
Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation.
Am J Hum Genet
; 104(5): 925-935, 2019 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30982609
6.
Cardiovascular findings in Williams-Beuren Syndrome: Experience of a single center with 127 cases.
Am J Med Genet A
; 188(2): 676-682, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34713566
7.
Efficient detection of copy-number variations using exome data: Batch- and sex-based analyses.
Hum Mutat
; 42(1): 50-65, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33131168
8.
Congenital limb deficiency: Genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms.
Clin Genet
; 100(5): 615-623, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34341987
9.
Atypical, severe hypertrophic cardiomyopathy in a newborn presenting Noonan syndrome harboring a recurrent heterozygous MRAS variant.
Am J Med Genet A
; 185(10): 3099-3103, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34080768
10.
Cerebellofaciodental syndrome in an adult patient: Expanding the phenotypic and natural history characteristics.
Am J Med Genet A
; 185(5): 1561-1568, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33645901
11.
Twenty-year follow-up of the facial phenotype of Brazilian patients with Sotos syndrome.
Am J Med Genet A
; 185(12): 3916-3923, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34405946
12.
Genetic Disorders in Prenatal Onset Syndromic Short Stature Identified by Exome Sequencing.
J Pediatr
; 215: 192-198, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31630891
13.
Hemorrhagic stroke and renovascular hypertension with Grange syndrome arising from a novel pathogenic variant in YY1AP1.
J Hum Genet
; 64(9): 885-890, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31270375
14.
Clinical and radiological findings in Brazilian patients with mucolipidosis types II/III.
Skeletal Radiol
; 48(8): 1201-1207, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30712120
15.
A rare case of hepatoblastoma in a syndromic child with a de novo germline JAG1 mutation.
Pediatr Blood Cancer
; 70(7): e30311, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36965188
16.
Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes.
Am J Med Genet A
; 170(11): 2965-2974, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27481187
17.
Post-mortem cytogenomic investigations in patients with congenital malformations.
Exp Mol Pathol
; 101(1): 116-23, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27450648
18.
Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.
J Med Genet
; 52(6): 413-21, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25795793
19.
Expanding the role of SETD5 haploinsufficiency in neurodevelopment and neuroblastoma.
Pediatr Blood Cancer
; 67(11): e28376, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32748512
20.
Mutations in the human UBR1 gene and the associated phenotypic spectrum.
Hum Mutat
; 35(5): 521-31, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24599544