Pamela J Gardner
Overview
Explore the profile of Pamela J Gardner including associated specialties, affiliations and a list of published articles.
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11
Citations
263
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Recent Articles
1.
Brenchley L, McDermott D, Gardner P, Silva L, Gao J, Cho E, et al.
J Clin Periodontol
. 2024 Jan;
51(4):464-473.
PMID: 38185798
Aim: WHIM (warts, hypogammaglobulinaemia, infections and myelokathexis) syndrome is a rare combined primary immunodeficiency disease caused by gain-of-function (GOF) mutations in the chemokine receptor CXCR4 and includes severe neutropenia as...
2.
Brenchley L, Ferre E, Schmitt M, Gardner P, Lionakis M, Moutsopoulos N
Front Dent Med
. 2023 Dec;
2.
PMID: 38148990
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), also known as autoimmune polyglandular syndrome type 1 (APS-1), is a rare genetic disorder caused most often by biallelic mutations in the gene. Classic clinical findings...
3.
McDermott D, Velez D, Cho E, Cowen E, DiGiovanna J, Pastrana D, et al.
J Clin Invest
. 2023 Aug;
133(19).
PMID: 37561579
BACKGROUNDWarts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome is a primary immunodeficiency disorder caused by heterozygous gain-of-function CXCR4 mutations. Myelokathexis is a kind of neutropenia caused by neutrophil retention in bone...
4.
Lee A, Chu E, Gardner P, Duverger O, Saikali A, Wang S, et al.
JBMR Plus
. 2021 May;
5(5):e10470.
PMID: 33977199
Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare autosomal recessive disorder caused by mutations in , , , or FGF23 autoantibodies. Prominent features include high blood phosphate and calcific masses,...
5.
Choi S, Lee J, Bassim C, Kushner H, Carr A, Gardner P, et al.
Am J Med Genet A
. 2019 Jul;
179(9):1820-1825.
PMID: 31313479
Pathogenic germline variation in the microRNA processing gene DICER1 gives rise to an autosomal dominant, tumor-predisposition disorder. Conditional deletion of Dicer1 in murine dental epithelium shows that it controls tooth...
6.
Squire J, Gardner P, Moutsopoulos N, Leiding J
J Allergy Clin Immunol Pract
. 2019 Jan;
7(3):819-823.
PMID: 30677537
Routine antibacterial prophylaxis is recommended before dental procedures in select patient populations. Currently, no guidelines are in place for routine prophylaxis before dental procedures in patients with primary immunodeficiency diseases....
7.
McDermott D, Pastrana D, Calvo K, Pittaluga S, Velez D, Cho E, et al.
N Engl J Med
. 2019 Jan;
380(2):163-170.
PMID: 30625055
WHIM syndrome (warts, hypogammaglobulinemia, infections, and myelokathexis), a primary immunodeficiency disorder involving panleukopenia, is caused by autosomal dominant gain-of-function mutations in CXC chemokine receptor 4 (CXCR4). Myelokathexis is neutropenia caused...
8.
Ferreira C, Crow Y, Gahl W, Gardner P, Goldbach-Mansky R, Hur S, et al.
J Clin Immunol
. 2018 Dec;
39(1):75-80.
PMID: 30574673
Purpose: Singleton-Merten syndrome manifests as dental dysplasia, glaucoma, psoriasis, aortic calcification, and skeletal abnormalities including tendon rupture and arthropathy. Pathogenic variants in IFIH1 have previously been associated with the classic...
9.
Estrada-Veras J, OBrien K, Boyd L, Dave R, Durham B, Xi L, et al.
Blood Adv
. 2017 May;
1(6):357-366.
PMID: 28553668
Erdheim-Chester Disease (ECD) is a rare, potentially fatal, multi-organ myeloid neoplasm occurring mainly in adults. The diagnosis is established by clinical, radiologic, and histologic findings; ECD tumors contain foamy macrophages...
10.
Cung W, Freedman L, Khan N, Romberg E, Gardner P, Bassim C, et al.
Eur J Med Genet
. 2015 Sep;
58(11):584-90.
PMID: 26360873
Background: Neurofibromatosis type 1 (NF1) is a common, autosomal dominant tumor-predisposition disorder that arises secondary to mutations in the tumor suppressor gene NF1. Cephalometry is an inexpensive, readily available and...