Detalhe da pesquisa
1.
Histological Transformation and Clonal Relationship of Subcutaneous Marginal Zone B-Cell Lymphoma and Diffuse Large B-Cell Lymphoma.
Am J Dermatopathol;
44(6): 442-448, 2022 Jun 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35583405
2.
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
3.
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
4.
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
5.
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
6.
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
7.
The Occurrence of Occult Acetabular Dysplasia in Relatives of Individuals With Developmental Dysplasia of the Hip.
J Pediatr Orthop;
36(1): 96-100, 2016 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25705807
8.
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
9.
L1CAM whole gene deletion in a child with L1 syndrome.
Am J Med Genet A;
164A(6): 1555-8, 2014 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24668863
10.
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
11.
Developmental Delay and Colon Polyposis.
Gastroenterology;
153(4): 908-909, 2017 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28881184
12.
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
13.
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
14.
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
15.
A deletion 13q34/duplication 14q32.2-14q32.33 syndrome diagnosed 50 years after neonatal presentation as infantile hypercalcemia.
Am J Med Genet A;
155A(4): 833-9, 2011 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21595000
16.
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
17.
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
18.
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
19.
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
20.
Chronic myelomonocytic leukemia with ETV6-ABL1 rearrangement and SMC1A mutation.
Cancer Genet;
238: 31-36, 2019 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31425923