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1.
Targeted Next-Generation Sequencing Reveals Exceptionally High Rates of Molecular Driver Mutations in Never-Smokers With Lung Adenocarcinoma.
Oncologist
; 27(6): 476-486, 2022 06 08.
Article
in English
| MEDLINE | ID: mdl-35298662
2.
Lipoprotein(a) concentrations, rosuvastatin therapy, and residual vascular risk: an analysis from the JUPITER Trial (Justification for the Use of Statins in Prevention: an Intervention Trial Evaluating Rosuvastatin).
Circulation
; 129(6): 635-42, 2014 Feb 11.
Article
in English
| MEDLINE | ID: mdl-24243886
3.
Low circulating 25-hydroxyvitamin D concentrations are associated with defects in insulin action and insulin secretion in persons with prediabetes.
J Nutr
; 145(4): 714-9, 2015 Apr.
Article
in English
| MEDLINE | ID: mdl-25740907
4.
Mutational analysis using next generation sequencing in pediatric thyroid cancer reveals BRAF and fusion oncogenes are common.
Int J Pediatr Otorhinolaryngol
; 157: 111121, 2022 Jun.
Article
in English
| MEDLINE | ID: mdl-35397361
5.
FMR1 premutation carrier frequency in patients undergoing routine population-based carrier screening: insights into the prevalence of fragile X syndrome, fragile X-associated tremor/ataxia syndrome, and fragile X-associated primary ovarian insufficiency in the United States.
Genet Med
; 13(1): 39-45, 2011 Jan.
Article
in English
| MEDLINE | ID: mdl-21116185
6.
Response to letter regarding article, "lipoprotein(a) concentrations, rosuvastatin therapy, and residual vascular risk: an analysis from the JUPITER trial (justification for the use of statins in prevention: an intervention trial evaluating rosuvastatin)".
Circulation
; 130(17): e152, 2014 Oct 21.
Article
in English
| MEDLINE | ID: mdl-25332285
7.
Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: implications for fragile X syndrome carrier and newborn screening.
Genet Med
; 12(3): 162-73, 2010 Mar.
Article
in English
| MEDLINE | ID: mdl-20168238
8.
Characterization of a recurrent novel large duplication in the cystic fibrosis transmembrane conductance regulator gene.
J Mol Diagn
; 9(4): 556-60, 2007 Sep.
Article
in English
| MEDLINE | ID: mdl-17690208
9.
OncoKB: A Precision Oncology Knowledge Base.
JCO Precis Oncol
; 20172017 Jul.
Article
in English
| MEDLINE | ID: mdl-28890946
10.
Rapid one-step carrier detection assay of mucolipidosis IV mutations in the Ashkenazi Jewish population.
J Mol Diagn
; 8(2): 282-7, 2006 May.
Article
in English
| MEDLINE | ID: mdl-16645217
11.
Mutational Analysis in Pediatric Thyroid Cancer and Correlations with Age, Ethnicity, and Clinical Presentation.
Thyroid
; 26(2): 227-34, 2016 Feb.
Article
in English
| MEDLINE | ID: mdl-26649796
12.
Fragile X syndrome: is now the time for population screening?
MLO Med Lab Obs
; 42(5): 20, 22, 2010 May.
Article
in English
| MEDLINE | ID: mdl-20521513
13.
Relationship between insulin resistance and amino acids in women and men.
Physiol Rep
; 3(5)2015 May.
Article
in English
| MEDLINE | ID: mdl-25952934
14.
Relationship among 25-hydroxyvitamin D concentrations, insulin action, and cardiovascular disease risk in patients with essential hypertension.
Am J Hypertens
; 28(2): 266-72, 2015 Feb.
Article
in English
| MEDLINE | ID: mdl-25138785
15.
Inherited and de novo 22q11.2 distal duplications in two patients with autistic features, speech delay and no dysmorphology.
J Pediatr Genet
; 1(2): 115-24, 2012 Jun.
Article
in English
| MEDLINE | ID: mdl-27625811
16.
Apparent homozygosity of a novel frame shift mutation in the CFTR gene because of a large deletion.
J Mol Diagn
; 11(3): 253-6, 2009 May.
Article
in English
| MEDLINE | ID: mdl-19324987
17.
Development of a novel, accurate, automated, rapid, high-throughput technique suitable for population-based carrier screening for Fragile X syndrome.
Genet Med
; 9(4): 199-207, 2007 Apr.
Article
in English
| MEDLINE | ID: mdl-17438383
18.
A large deletion in the CFTR gene in CBAVD.
Genet Med
; 8(2): 93-5, 2006 Feb.
Article
in English
| MEDLINE | ID: mdl-16481891
19.
Novel and recurrent rearrangements in the CFTR gene: clinical and laboratory implications for cystic fibrosis screening.
Hum Genet
; 119(1-2): 126-36, 2006 Mar.
Article
in English
| MEDLINE | ID: mdl-16362824
20.
Extensive sequencing of the CFTR gene: lessons learned from the first 157 patient samples.
Hum Genet
; 118(3-4): 331-8, 2005 Dec.
Article
in English
| MEDLINE | ID: mdl-16189704