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1.
Combined utility of p16 and BRAF V600E in the evaluation of spitzoid tumors: Superiority to PRAME and correlation with FISH.
J Cutan Pathol
; 50(2): 155-168, 2023 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-36261329
2.
Addendum: Technical standards and guidelines: Molecular genetic testing for ultra-rare disorders.
Genet Med
; 24(1): 253-253.e1, 2022 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-35318940
3.
EWSR1-SMAD3 rearranged fibroblastic tumor: Case series and review.
J Cutan Pathol
; 48(2): 255-262, 2021 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-32901982
4.
Statement on storage and use of genetic materials.
Am J Hum Genet
; 109(9): 1724, 2022 09 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-36055215
5.
CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 22(8): 1288-1295, 2020 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-32404922
6.
Uterine Inflammatory Myofibroblastic Tumor Showing an Atypical ALK Signal Pattern by FISH and DES-ALK Fusion by RNA Sequencing: A Case Report.
Int J Gynecol Pathol
; 39(2): 152-156, 2020 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-30741845
7.
Points to consider in the detection of germline structural variants using next-generation sequencing: A statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 25(2): 100316, 2023 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-36507974
8.
Assessing the Clinical Utility of SNP Microarray for Prader-Willi Syndrome due to Uniparental Disomy.
Cytogenet Genome Res
; 152(2): 105-109, 2017.
Artículo
en Inglés
| MEDLINE | ID: mdl-28746920
9.
Partial tetrasomy 11q resulting from an intrachromosomal triplication of a 22 Mb region of chromosome 11.
Am J Med Genet A
; 173(4): 1056-1060, 2017 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-28328127
10.
Histology, fusion status, and outcome in metastatic rhabdomyosarcoma: A report from the Children's Oncology Group.
Pediatr Blood Cancer
; 64(12)2017 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-28521080
11.
Incidental detection of acquired variants in germline genetic and genomic testing: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 23(7): 1179-1184, 2021 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-33864022
12.
Addendum: Technical standards and guidelines for spinal muscular atrophy testing.
Genet Med
; 23(12): 2462, 2021 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-33046848
13.
Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 22(7): 1133-1141, 2020 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-32296163
14.
Risk categorization for oversight of laboratory-developed tests for inherited conditions: an updated position statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 22(6): 983-985, 2020 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-32127695
15.
Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.
Am J Hum Genet
; 89(4): 551-63, 2011 Oct 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-21981781
16.
A Single Arm Phase 2 Trial of Trametinib in Patients With Locally Advanced or Metastatic Epithelioid Hemangioendothelioma.
Clin Cancer Res
; 2024 Mar 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-38446990
17.
Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.
Am J Hum Genet
; 86(3): 454-61, 2010 Mar 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-20206336
18.
Impaired regeneration in LGMD2A supported by increased PAX7-positive satellite cell content and muscle-specific microrna dysregulation.
Muscle Nerve
; 47(5): 731-9, 2013 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-23553538
19.
HER2 IHC Expression and Gene Amplification in p53-aberrant High-grade Endometrial Endometrioid Carcinoma Suggests That This Population May Benefit From HER2 Testing and Targeted Therapy.
Am J Surg Pathol
; 47(5): 580-588, 2023 05 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-36939053
20.
Novel NONO::TFE3 fusion and ALK co-expression identified in a subset of cutaneous microcystic/reticular schwannoma.
Virchows Arch
; 483(2): 237-243, 2023 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-37468653