Detalles de la búsqueda
1.
Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).
Genet Med
; 22(2): 245-257, 2020 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-31690835
2.
Acute leukemia in a patient with 15q overgrowth syndrome.
Am J Med Genet A
; 179(6): 1025-1029, 2019 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-30861314
3.
Diagnostic cytogenetic testing following positive noninvasive prenatal screening results: a clinical laboratory practice resource of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 19(8): 845-850, 2017 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-28726804
4.
Commentary on the decision of the American Board of Medical Genetics and Genomics to create a 24-month specialty of Laboratory Genetics and Genomics.
Genet Med
; 19(3): 294-296, 2017 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-27854359
5.
Section E6.1-6.4 of the ACMG technical standards and guidelines: chromosome studies of neoplastic blood and bone marrow-acquired chromosomal abnormalities.
Genet Med
; 18(6): 635-42, 2016 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-27124785
6.
Correction: Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).
Genet Med
; 23(11): 2230, 2021 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-33731880
7.
Noninvasive prenatal screening for aneuploidy: positive predictive values based on cytogenetic findings.
Am J Obstet Gynecol
; 213(2): 214.e1-5, 2015 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-25843063
8.
Complex or monosomal karyotype and not blast percentage is associated with poor survival in acute myeloid leukemia and myelodysplastic syndrome patients with inv(3)(q21q26.2)/t(3;3)(q21;q26.2): a Bone Marrow Pathology Group study.
Haematologica
; 99(5): 821-9, 2014 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-24463215
9.
Comprehensive whole-genome sequencing of an early-stage primary myelofibrosis patient defines low mutational burden and non-recurrent candidate genes.
Haematologica
; 98(11): 1689-96, 2013 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-23872309
10.
Is it time to sound an alarm about false-positive cell-free DNA testing for fetal aneuploidy?
Am J Obstet Gynecol
; 209(5): 415-9, 2013 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-23529082
11.
Report of two patients and further characterization of interstitial 9p13 deletion--a rare but recurrent microdeletion syndrome?
Am J Med Genet A
; 158A(9): 2328-35, 2012 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-22887577
12.
Feeder-free derivation of induced pluripotent stem cells from adult human adipose stem cells.
Proc Natl Acad Sci U S A
; 106(37): 15720-5, 2009 Sep 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-19805220
13.
A pediatric B lineage leukemia with coincident MYC and MLL translocations.
J Pediatr Hematol Oncol
; 33(2): 158-60, 2011 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-20829716
14.
Lymphoid blast transformation in an MPN with BCR-JAK2 treated with ruxolitinib: putative mechanisms of resistance.
Blood Adv
; 5(17): 3492-3496, 2021 09 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-34505882
15.
Characterization of D-cyclin proteins in hematolymphoid neoplasms: lack of specificity of cyclin-D2 and D3 expression in lymphoma subtypes.
Mod Pathol
; 23(3): 420-33, 2010 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-20062012
16.
Long-term remission of Philadelphia chromosome-positive acute lymphoblastic leukemia after allogeneic hematopoietic cell transplantation from matched sibling donors: a 20-year experience with the fractionated total body irradiation-etoposide regimen.
Blood
; 112(3): 903-9, 2008 Aug 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-18519812
17.
Loss of SMARCB1/INI1 expression in poorly differentiated chordomas.
Acta Neuropathol
; 120(6): 745-53, 2010 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-21057957
18.
Reply: To PMID 25843063.
Am J Obstet Gynecol
; 213(4): 596, 2015 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-26070704
19.
Reply: To PMID 23529082.
Am J Obstet Gynecol
; 211(1): 81, 2014 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-24418226
20.
ACMG Policy Statement. Risk categorization for oversight of laboratory-developed tests for inherited conditions.
Genet Med
; 15(4): 314-5, 2013 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-23348768