Search details
1.
Genetics of kidney disorders in Phelan-McDermid syndrome: evidence from 357 registry participants.
Pediatr Nephrol
; 39(3): 749-760, 2024 Mar.
Article
in English
| MEDLINE | ID: mdl-37733098
2.
Lymphedema is associated with CELSR1 in Phelan-McDermid syndrome.
Clin Genet
; 104(4): 472-478, 2023 10.
Article
in English
| MEDLINE | ID: mdl-37232218
3.
Sleep disturbances in Phelan-McDermid syndrome: Clinical and metabolic profiling of 56 individuals.
Clin Genet
; 104(2): 198-209, 2023 08.
Article
in English
| MEDLINE | ID: mdl-37198960
4.
Genetic and metabolic profiling of individuals with Phelan-McDermid syndrome presenting with seizures.
Clin Genet
; 101(1): 87-100, 2022 01.
Article
in English
| MEDLINE | ID: mdl-34664257
5.
Factors related to initial treatment for adhesive capsulitis in the medicare population.
BMC Geriatr
; 22(1): 548, 2022 06 30.
Article
in English
| MEDLINE | ID: mdl-35773660
6.
TOMM40 genetic variants associated with healthy aging and longevity: a systematic review.
BMC Geriatr
; 22(1): 667, 2022 08 13.
Article
in English
| MEDLINE | ID: mdl-35964003
7.
Genetics providers' experiences using telehealth: A grounded theory approach.
J Genet Couns
; 31(5): 1155-1163, 2022 10.
Article
in English
| MEDLINE | ID: mdl-35510371
8.
The impact of pharmacogenetic testing in patients exposed to polypharmacy: a scoping review.
Pharmacogenomics J
; 21(4): 409-422, 2021 08.
Article
in English
| MEDLINE | ID: mdl-34140647
9.
Comprehensive investigation of the phenotype of MEF2C-related disorders in human patients: A systematic review.
Am J Med Genet A
; 185(12): 3884-3894, 2021 12.
Article
in English
| MEDLINE | ID: mdl-34184825
10.
The epidemiology and etiology of adhesive capsulitis in the U.S. Medicare population.
BMC Musculoskelet Disord
; 22(1): 828, 2021 Sep 27.
Article
in English
| MEDLINE | ID: mdl-34579697
11.
When folic acid fails: Insights from 20 years of neural tube defect surveillance in South Carolina.
Am J Med Genet A
; 167A(10): 2244-50, 2015 Oct.
Article
in English
| MEDLINE | ID: mdl-26108864
12.
Clinical and genomic evaluation of 201 patients with Phelan-McDermid syndrome.
Hum Genet
; 133(7): 847-59, 2014 Jul.
Article
in English
| MEDLINE | ID: mdl-24481935
13.
22q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay, and physical features in Phelan-McDermid syndrome.
Genet Med
; 16(4): 318-28, 2014 Apr.
Article
in English
| MEDLINE | ID: mdl-24136618
14.
Inclusion of the severe and enduring anorexia nervosa phenotype in genetics research: a scoping review.
J Eat Disord
; 12(1): 53, 2024 Apr 29.
Article
in English
| MEDLINE | ID: mdl-38685102
15.
SARS-CoV-2 emergency use authorization published sensitivity differences do not correlate with positivity rate in a hospital/reference laboratory setting.
Diagn Microbiol Infect Dis
; 108(2): 116157, 2024 Feb.
Article
in English
| MEDLINE | ID: mdl-38101236
16.
Evaluating User Experience and DNA Yield from Self-Collection Devices.
J Appl Lab Med
; 2024 May 20.
Article
in English
| MEDLINE | ID: mdl-38767175
17.
Preanalytic and Analytic Quality System Considerations in Noncoding RNA Biomarker Development for Clinical Diagnostics.
Genet Test Mol Biomarkers
; 27(5): 172-182, 2023 May.
Article
in English
| MEDLINE | ID: mdl-37257182
18.
Brain Gene Co-Expression Network Analysis Identifies 22q13 Region Genes Associated with Autism, Intellectual Disability, Seizures, Language Impairment, and Hypotonia.
Genes (Basel)
; 14(11)2023 Oct 26.
Article
in English
| MEDLINE | ID: mdl-38002941
19.
Concomitant Calcium Channelopathies Involving CACNA1A and CACNA1F: A Case Report and Review of the Literature.
Genes (Basel)
; 14(2)2023 02 03.
Article
in English
| MEDLINE | ID: mdl-36833327
20.
Stratification of a Phelan-McDermid Syndrome Population Based on Their Response to Human Growth Hormone and Insulin-like Growth Factor.
Genes (Basel)
; 14(2)2023 02 15.
Article
in English
| MEDLINE | ID: mdl-36833418