Search Results - "Gardner, Pamela J."
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Plerixafor for the Treatment of WHIM Syndrome
Published in The New England journal of medicine (10-01-2019)“…WHIM syndrome (warts, hypogammaglobulinemia, infections, and myelokathexis) results from hyperactivity of the chemokine receptor CXCR4. Plerixafor blocks the…”
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A phase III randomized crossover trial of plerixafor versus G-CSF for treatment of WHIM syndrome
Published in The Journal of clinical investigation (01-10-2023)“…BACKGROUNDWarts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome is a primary immunodeficiency disorder caused by heterozygous…”
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Loss of heterozygosity (LOH) profiles--validated risk predictors for progression to oral cancer
Published in Cancer prevention research (Philadelphia, Pa.) (01-09-2012)“…A major barrier to oral cancer prevention has been the lack of validated risk predictors for oral premalignant lesions (OPL). In 2000, we proposed a loss of…”
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DDX58 and Classic Singleton-Merten Syndrome
Published in Journal of clinical immunology (01-01-2019)“…Purpose Singleton-Merten syndrome manifests as dental dysplasia, glaucoma, psoriasis, aortic calcification, and skeletal abnormalities including tendon rupture…”
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The clinical spectrum of Erdheim-Chester disease: an observational cohort study
Published in Blood advances (14-02-2017)“…Erdheim-Chester disease (ECD) is a rare, potentially fatal multiorgan myeloid neoplasm occurring mainly in adults. The diagnosis is established by clinical,…”
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A Cross‐Sectional Cohort Study of the Effects of FGF23 Deficiency and Hyperphosphatemia on Dental Structures in Hyperphosphatemic Familial Tumoral Calcinosis
Published in JBMR plus (01-05-2021)“…ABSTRACT Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare autosomal recessive disorder caused by mutations in FGF23, GALNT3, KLOTHO, or FGF23…”
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Case Report: Dental Findings Can Aid in Early Diagnosis of APECED Syndrome
Published in Frontiers in dental medicine (2021)“…Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), also known as autoimmune polyglandular syndrome type 1 (APS-1), is a rare genetic…”
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Periodontal disease in patients with WHIM syndrome
Published in Journal of clinical periodontology (01-04-2024)“…Aim WHIM (warts, hypogammaglobulinaemia, infections and myelokathexis) syndrome is a rare combined primary immunodeficiency disease caused by gain‐of‐function…”
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Antibiotic Prophylaxis for Dental Treatment in Patients with Immunodeficiency
Published in The journal of allergy and clinical immunology in practice (Cambridge, MA) (01-03-2019)“…Routine antibacterial prophylaxis is recommended before dental procedures in select patient populations. Currently, no guidelines are in place for routine…”
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Dental abnormalities in individuals with pathogenic germline variation in DICER1
Published in American journal of medical genetics. Part A (01-09-2019)“…Pathogenic germline variation in the microRNA processing gene DICER1 gives rise to an autosomal dominant, tumor‐predisposition disorder. Conditional deletion…”
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Cephalometry in adults and children with neurofibromatosis type 1: Implications for the pathogenesis of sphenoid wing dysplasia and the “NF1 facies”
Published in European journal of medical genetics (01-11-2015)“…Abstract Background Neurofibromatosis type 1 (NF1) is a common, autosomal dominant tumor-predisposition disorder that arises secondary to mutations in the…”
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2577. Periodontal Disease and the Oral Microbiome in Alcohol-Dependent Individuals
Published in Open forum infectious diseases (23-10-2019)Get full text
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Diffuse p16 Immunohistochemical Expression in Basaloid ‘Human Papillomavirus-Like’ Oral Epithelial Lesions May Not Be Human Papillomavirus-Associated
Published in Oral surgery, oral medicine, oral pathology and oral radiology (01-08-2024)“…Human papillomavirus (HPV)-associated oral epithelial dysplasia (OED) and squamous cell carcinoma of the oral cavity (OSCC) are uncommon. They are known to…”
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Abstract CN02-02: Malignant risk prediction for patients with oral premalignant lesions
Published in Cancer prevention research (Philadelphia, Pa.) (01-11-2012)“…Oral cancers remain both a challenge and an opportunity for clinicians and scientists working with this disease. Worldwide, it represents a significant global…”
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