Detalhe da pesquisa
1.
PATZ1-Rearranged Tumors of the Central Nervous System: Characterization of a Pediatric Series of Seven Cases.
Mod Pathol
; 37(2): 100387, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38007157
2.
Reciprocal Xp11.4p11.3 microdeletion/microduplication spanning USP9X, DDX3X, and CASK genes in two patients with syndromic intellectual disability.
Am J Med Genet A
; 188(6): 1836-1847, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35238482
3.
Congenital heart defects in molecularly confirmed KBG syndrome patients.
Am J Med Genet A
; 188(4): 1149-1159, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34971082
4.
A Complex Genomic Rearrangement Resulting in Loss of Function of SCN1A and SCN2A in a Patient with Severe Developmental and Epileptic Encephalopathy.
Int J Mol Sci
; 23(21)2022 Oct 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-36361691
5.
Atypical 7q11.23 deletions excluding ELN gene result in Williams-Beuren syndrome craniofacial features and neurocognitive profile.
Am J Med Genet A
; 185(1): 242-249, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33098373
6.
TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study.
Am J Med Genet A
; 185(8): 2417-2433, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34042254
7.
A New Intronic Variant in ECEL1 in Two Patients with Distal Arthrogryposis Type 5D.
Int J Mol Sci
; 22(4)2021 Feb 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-33672664
8.
Homozygous HESX1 and COL1A1 Gene Variants in a Boy with Growth Hormone Deficiency and Early Onset Osteoporosis.
Int J Mol Sci
; 22(2)2021 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-33451138
9.
PPP1R21-related syndromic intellectual disability: Report of an adult patient and review.
Am J Med Genet A
; 182(12): 3014-3022, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32985083
10.
KBG syndrome: Common and uncommon clinical features based on 31 new patients.
Am J Med Genet A
; 182(5): 1073-1083, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32124548
11.
Confirmation of BRD4 haploinsufficiency role in Cornelia de Lange-like phenotype and delineation of a 19p13.12p13.11 gene contiguous syndrome.
Ann Hum Genet
; 83(2): 100-109, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30302754
12.
A heterozygous, intragenic deletion of CNOT2 recapitulates the phenotype of 12q15 deletion syndrome.
Am J Med Genet A
; 179(8): 1615-1621, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31145527
13.
First Report of Low-Rate Mosaicism for 20q11.21q12 Deletion and Delineation of the Associated Disorder.
Cytogenet Genome Res
; 156(2): 87-94, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30372694
14.
A non-hemispheric transtentorial ZFTA fusion-positive ependymoma in a 6-month-old boy.
Neuropathol Appl Neurobiol
; 49(1): e12886, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36709981
15.
Interstitial 10q21.1q23.31 Duplication due to Meiotic Recombination of a Paternal Balanced Complex Rearrangement: Cytogenetic and Molecular Characterization.
Cytogenet Genome Res
; 151(4): 179-185, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28478456
16.
Extensive molecular analysis suggested the strong genetic heterogeneity of idiopathic chronic pancreatitis.
Mol Med
; 22: 300-309, 2016 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-27264265
17.
CHARGE syndrome due to deletion of region upstream of CHD7 gene START codon.
BMC Med Genet
; 16: 78, 2015 Sep 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26334530
18.
Advantages of a next generation sequencing targeted approach for the molecular diagnosis of retinoblastoma.
BMC Cancer
; 15: 841, 2015 Nov 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26530098
19.
Deep Intronic LINE-1 Insertions in NF1: Expanding the Spectrum of Neurofibromatosis Type 1-Associated Rearrangements.
Biomolecules
; 13(5)2023 04 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37238595
20.
HuR modulation counteracts lipopolysaccharide response in murine macrophages.
Dis Model Mech
; 16(3)2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36912171