Detalhe da pesquisa
1.
Section E6.5-6.8 of the ACMG technical standards and guidelines: chromosome studies of lymph node and solid tumor-acquired chromosomal abnormalities.
Genet Med
; 18(6): 643-8, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27124786
2.
Breast Cancer and Non-Hodgkin Lymphoma in a Young Male with Cowden Syndrome.
Pediatr Blood Cancer
; 63(3): 544-6, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26468640
3.
Aplastic Anemia in Two Patients with Sex Chromosome Aneuploidies.
Cytogenet Genome Res
; 147(1): 31-4, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26571231
4.
Assessing the utility of confirmatory studies following identification of large-scale genomic imbalances by microarray.
Genet Med
; 17(11): 875-9, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25590977
5.
Early onset, EBV(-) PTLD in pediatric liver-small bowel transplantation recipients: a spectrum of plasma cell neoplasms with favorable prognosis.
Blood
; 121(8): 1377-83, 2013 Feb 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-23255556
6.
Occurrence of nephroblastomatosis with dup(18)(q11.2-q23) implicates trisomy 18 tumor screening protocol in select patients with 18q duplication.
Am J Med Genet A
; 164A(4): 1079-82, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24596125
7.
Duplication of 20qter and deletion of 20pter due to paternal pericentric inversion: patient report and review of 20qter duplications.
Am J Med Genet A
; 164A(8): 2020-4, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24954807
8.
Allogeneic stem cell transplantation for Philadelphia chromosome-positive acute myeloid leukemia.
J Natl Compr Canc Netw
; 12(7): 963-8, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24994916
9.
Cytosine arabinoside and mitoxantrone followed by second allogeneic transplant for the treatment of children with refractory juvenile myelomonocytic leukemia.
J Pediatr Hematol Oncol
; 36(6): 491-4, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24322499
10.
Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.
Am J Hum Genet
; 87(5): 618-30, 2010 Nov 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-21055719
11.
Report of a patient with developmental delay, hearing loss, growth retardation, and cleft lip and palate and a deletion of 7q34-36.1: review of distal 7q deletions.
Am J Med Genet A
; 161A(7): 1726-32, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23696251
12.
Characterization of six novel patients with MECP2 duplications due to unbalanced rearrangements of the X chromosome.
Am J Med Genet A
; 158A(6): 1285-91, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22581587
13.
The proliferation gene expression signature is a quantitative integrator of oncogenic events that predicts survival in mantle cell lymphoma.
Cancer Cell
; 3(2): 185-97, 2003 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-12620412
14.
Primary follicular lymphoma of the testis in children and adolescents.
J Pediatr Hematol Oncol
; 34(1): 68-71, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22215099
15.
Genome wide copy number analysis of paediatric Burkitt lymphoma using formalin-fixed tissues reveals a subset with gain of chromosome 13q and corresponding miRNA over expression.
Br J Haematol
; 155(4): 477-86, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21981616
16.
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.
Genet Med
; 13(9): 777-84, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21844811
17.
Large contiguous gene deletions in Sjögren-Larsson syndrome.
Mol Genet Metab
; 104(3): 356-61, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21684788
18.
An increased frequency of 13q deletions detected by fluorescence in situ hybridization and its impact on survival in children and adolescents with Burkitt lymphoma: results from the Children's Oncology Group study CCG-5961.
Br J Haematol
; 148(4): 600-10, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19895612
19.
t(14;18)-negative follicular lymphomas are associated with a high frequency of BCL6 rearrangement at the alternative breakpoint region.
Mod Pathol
; 22(9): 1251-7, 2009 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-19465899
20.
Variability in interpreting and reporting copy number changes detected by array-based technology in clinical laboratories.
Genet Med
; 11(12): 866-73, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19904209