Search details
1.
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.
Article
in English
| MEDLINE | ID: mdl-28726804
2.
Camptodactyly and the 22q11.2 deletion syndrome.
Am J Med Genet A
; 173(2): 515-518, 2017 Feb.
Article
in English
| MEDLINE | ID: mdl-27792854
3.
ADDENDUM: Section E9 of the American College of Medical Genetics Technical Standards and Guidelines: Fluorescence in situ hybridization.
Genet Med
; 21(10): 2405, 2019 10.
Article
in English
| MEDLINE | ID: mdl-31028353
4.
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
Am J Hum Genet
; 86(5): 749-64, 2010 May 14.
Article
in English
| MEDLINE | ID: mdl-20466091
5.
A 137-kb deletion within the Potocki-Shaffer syndrome interval on chromosome 11p11.2 associated with developmental delay and hypotonia.
Am J Med Genet A
; 161A(1): 198-202, 2013 Jan.
Article
in English
| MEDLINE | ID: mdl-23239541
6.
Formation of novel CENP-A domains on tandem repetitive DNA and across chromosome breakpoints on human chromosome 8q21 neocentromeres.
Chromosoma
; 120(6): 621-32, 2011 Dec.
Article
in English
| MEDLINE | ID: mdl-21826412
7.
Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy?
Genet Med
; 14(9): 811-8, 2012 Sep.
Article
in English
| MEDLINE | ID: mdl-22653535
8.
Subtelomeric deletion of chromosome 10p15.3: clinical findings and molecular cytogenetic characterization.
Am J Med Genet A
; 158A(9): 2152-61, 2012 Sep.
Article
in English
| MEDLINE | ID: mdl-22847950
9.
Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay.
Hum Genet
; 130(4): 517-28, 2011 Oct.
Article
in English
| MEDLINE | ID: mdl-21359847
10.
Section E9 of the American College of Medical Genetics technical standards and guidelines: fluorescence in situ hybridization.
Genet Med
; 13(7): 667-75, 2011 Jul.
Article
in English
| MEDLINE | ID: mdl-21738013
11.
College of American Pathologists/American College of Medical Genetics proficiency testing for constitutional cytogenomic microarray analysis.
Genet Med
; 13(9): 765-9, 2011 Sep.
Article
in English
| MEDLINE | ID: mdl-21633292
12.
Clinical and molecular characterization of chromosome 7p22.1 microduplication detected by array CGH.
Am J Med Genet A
; 155A(10): 2508-11, 2011 Oct.
Article
in English
| MEDLINE | ID: mdl-21998864
13.
UPD detection using homozygosity profiling with a SNP genotyping microarray.
Am J Med Genet A
; 155A(4): 757-68, 2011 Apr.
Article
in English
| MEDLINE | ID: mdl-21594998
14.
Variability in interpreting and reporting copy number changes detected by array-based technology in clinical laboratories.
Genet Med
; 11(12): 866-73, 2009 Dec.
Article
in English
| MEDLINE | ID: mdl-19904209
15.
Multidisciplinary analysis of pediatric T-ALL: 9q34 gene fusions.
Cancer Genet
; 231-232: 1-13, 2019 02.
Article
in English
| MEDLINE | ID: mdl-30803551
16.
Molecular characterization and sensitivity of STI-571 (imatinib mesylate, Gleevec)-resistant, Bcr-Abl-positive, human acute leukemia cells to SRC kinase inhibitor PD180970 and 17-allylamino-17-demethoxygeldanamycin.
Cancer Res
; 62(20): 5761-9, 2002 Oct 15.
Article
in English
| MEDLINE | ID: mdl-12384536
17.
Burkitt lymphoma arising in organ transplant recipients: a clinicopathologic study of five cases.
Am J Surg Pathol
; 27(6): 818-27, 2003 Jun.
Article
in English
| MEDLINE | ID: mdl-12766587
18.
Status of the anaplastic lymphoma kinase (ALK) gene in inflammatory breast carcinoma.
Springerplus
; 2: 409, 2013.
Article
in English
| MEDLINE | ID: mdl-24156086
19.
Visual diagnosis: monozygotic twins who have congenital heart disease and distinctive facial features.
Pediatr Rev
; 23(10): 365-7, 2002 Oct.
Article
in English
| MEDLINE | ID: mdl-12359871
20.
Ovotesticular disorder of sexual development (true hermaphroditism).
Urology
; 73(2): 293-6, 2009 Feb.
Article
in English
| MEDLINE | ID: mdl-18822450