Detalhe da pesquisa
1.
Pediatric acute myeloid leukemia with t(7;21)(p22;q22).
Genes Chromosomes Cancer
; 58(8): 551-557, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30706625
2.
Multiple Congenital Anomalies and Global Developmental Delay in a Patient with Interstitial 6q25.2q26 Deletion: A Diagnostic Odyssey.
Cytogenet Genome Res
; 156(4): 191-196, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30439704
3.
Delineation of the 9q31 deletion syndrome: Genomic microarray characterization of two patients with overlapping deletions.
Am J Med Genet A
; 176(12): 2901-2906, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30346094
4.
Genome-wide uniparental disomy as a mechanism of immune escape in acquired aplastic anaemia.
Br J Haematol
; 198(6): e78-e81, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35876645
5.
Clinical features of trisomy 12 mosaicism-Report and review.
Am J Med Genet A
; 173(6): 1681-1686, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28345774
6.
Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome.
Nat Genet
; 38(5): 561-5, 2006 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-16642020
7.
Conventional Cytogenetic Analysis of Constitutional Abnormalities: A 20-Year Review of Proficiency Test Results From the College of American Pathologists/American College of Medical Genetics and Genomics Cytogenetics Committee.
Arch Pathol Lab Med
; 2024 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38838342
8.
Developmental Delay and Colon Polyposis.
Gastroenterology
; 153(4): 908-909, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28881184
9.
A novel AGGF1-PDGFRb fusion in pediatric T-cell acute lymphoblastic leukemia.
Haematologica
; 103(2): e87-e91, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29284681
10.
Case report: Functional characterization of a novel CHD7 intronic variant in patients with CHARGE syndrome.
Front Genet
; 14: 1082100, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36845402
11.
Comprehensive variant calling from whole-genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia.
Mol Genet Genomic Med
; 10(4): e1888, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35119225
12.
Identification of KMT2A-ARHGEF12 fusion in a child with a high-grade B-cell lymphoma.
Cancer Genet
; 258-259: 23-26, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34237703
13.
Conventional Cytogenetic Analysis of Hematologic Neoplasms: A 20-Year Review of Proficiency Test Results From the College of American Pathologists/American College of Medical Genetics and Genomics Cytogenetics Committee.
Arch Pathol Lab Med
; 145(2): 176-190, 2021 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32886736
14.
Seizures and Cardiomyopathy in a Patient with Pallister-Killian Syndrome due to Hexasomy 12p Mosaicism.
Mol Syndromol
; 11(3): 125-129, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-32903844
15.
Delineating the Clinical Spectrum Associated With Xq25q26.2 Duplications: Report of 2 Families and Review of the Literature.
J Child Neurol
; 34(2): 86-93, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30458662
16.
Chronic myelomonocytic leukemia with ETV6-ABL1 rearrangement and SMC1A mutation.
Cancer Genet
; 238: 31-36, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31425923
17.
Flow Cytometry Is More Sensitive Than Fluorescence In Situ Hybridization for Detecting Minimal Residual Disease.
Am J Clin Pathol
; 156(4): 715-716, 2021 09 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34165497
18.
Neoplastic plasma cell aberrant antigen expression patterns and their association with genetic abnormalities.
Leuk Lymphoma
; 56(2): 426-33, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24913506
19.
Characterizing Atypical BCL6 Signal Patterns Detected by Digital Fluorescence In Situ Hybridization (FISH) Analysis.
Ann Lab Med
; 38(6): 619-622, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30027711
20.
Sheldon-Hall syndrome.
Orphanet J Rare Dis
; 4: 11, 2009 Mar 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-19309503