Nicole L. Miller
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View article: Histological and Molecular Characterisation of Gonadal Phenotypes Confirms Diandry in a Protogynous Wrasse
Histological and Molecular Characterisation of Gonadal Phenotypes Confirms Diandry in a Protogynous Wrasse Open
Sequentially hermaphroditic fish begin life as one sex and change to another at some stage of their lifecycle. To date, the majority of research into this fascinating process has focused on sex change in sexually mature fish. The current s…
View article: Clinical Outcomes Comparing Mini Versus Standard PCNL Without Postoperative Nephrostomy Tube: A Multi-institutional Randomized Controlled Trial From the EDGE Consortium
Clinical Outcomes Comparing Mini Versus Standard PCNL Without Postoperative Nephrostomy Tube: A Multi-institutional Randomized Controlled Trial From the EDGE Consortium Open
Results from a multi-institutional randomized controlled trial evaluating mini versus standard PCNL without postoperative nephrostomy tubes indicate no statistically significant differences in intraoperative, postoperative, or stone-free o…
View article: Nobody Asked for This: Grassroots Collaboration Between Campus Makerspaces
Nobody Asked for This: Grassroots Collaboration Between Campus Makerspaces Open
View article: Síndrome HELLP: relato de paciente com complicação de pré-eclâmpsia e evolução para rotura hepática
Síndrome HELLP: relato de paciente com complicação de pré-eclâmpsia e evolução para rotura hepática Open
Relato de uma paciente de 23 anos, gestante de 37 semanas e 6 dias, admitida com pico hipertensivo (170x120 mmHg) e diagnóstico laboratorial de Síndrome HELLP. Após dor abdominal intensa e sinais de sofrimento fetal, evoluiu rapidamente pa…
View article: P020: Introducing an interactive, searchable database of LC-FAOD gene variants, genotypes and phenotypes
P020: Introducing an interactive, searchable database of LC-FAOD gene variants, genotypes and phenotypes Open
View article: P718: Mucopolysaccharidosis type VII (MPS VII): A locus-specific database of GUSB gene variants, genotypes and phenotypes
P718: Mucopolysaccharidosis type VII (MPS VII): A locus-specific database of GUSB gene variants, genotypes and phenotypes Open
View article: P554: Newborn sequencing: Approaches taken by programs around the globe
P554: Newborn sequencing: Approaches taken by programs around the globe Open
View article: P574: Long-chain fatty acid oxidation disorders: A review of newborn screening around the globe for LC-FAOD
P574: Long-chain fatty acid oxidation disorders: A review of newborn screening around the globe for LC-FAOD Open
View article: The Association of Salivary Estradiol Levels with Anterior Cruciate Ligament Stiffness and Laxity
The Association of Salivary Estradiol Levels with Anterior Cruciate Ligament Stiffness and Laxity Open
BACKGROUND: Females are three to six times more likely to sustain an anterior cruciate ligament (ACL) injury than males. Researchers have previously identified hormonal fluctuations as a possible intrinsic factor related to the higher inci…
View article: Predicting urinary stone recurrence: a joint model analysis of repeated 24-hour urine collections from the MSTONE database
Predicting urinary stone recurrence: a joint model analysis of repeated 24-hour urine collections from the MSTONE database Open
To address the limitations in existing urinary stone recurrence (USR) models, including failure to account for changes in 24-hour urine (24U) parameters over time and ignoring multiplicity of stone recurrences, we presented a novel statist…
View article: Upscaling marine forest restoration: challenges, solutions and recommendations from the Green Gravel Action Group
Upscaling marine forest restoration: challenges, solutions and recommendations from the Green Gravel Action Group Open
Introduction To counteract the rapid loss of marine forests globally and meet international commitments of the UN Decade on Ecosystem Restoration and the Convention on Biological Diversity ‘30 by 30’ targets, there is an urgent need to enh…
View article: Preexisting antibody assays for gene therapy: Considerations on patient selection cutoffs and companion diagnostic requirements
Preexisting antibody assays for gene therapy: Considerations on patient selection cutoffs and companion diagnostic requirements Open
View article: P032: Decoding the genetic tapestry of long chain fatty acid oxidation disorders: Unveiling novel insights with a dynamic locus-specific gene database
P032: Decoding the genetic tapestry of long chain fatty acid oxidation disorders: Unveiling novel insights with a dynamic locus-specific gene database Open
Long-chain fatty acid oxidation disorders (LC-FAOD) are a group of six rare, life-threatening conditions typically detected through elevations in plasma acylcarnitine profiles, identified either through newborn screening (NBS) or by testin…
View article: P030: Diverse genetic findings, clinical signs, and newborn screening history from a long-chain fatty acid oxidation disorders gene panel sponsored program
P030: Diverse genetic findings, clinical signs, and newborn screening history from a long-chain fatty acid oxidation disorders gene panel sponsored program Open
Long-chain fatty acid oxidation disorders (LC-FAOD) are rare, life-threatening but treatable autosomal recessive conditions resulting from impaired utilization of long-chain fatty acids for energy production. Clinical signs include hypogly…
View article: Factors Affecting Holmium Laser Efficiency: Comparison of Laryngeal Mask Airway and Endotracheal Intubation During Ureteroscopy for Renal Stones
Factors Affecting Holmium Laser Efficiency: Comparison of Laryngeal Mask Airway and Endotracheal Intubation During Ureteroscopy for Renal Stones Open
Introduction: Holmium laser lithotripsy is a standard energy source used for treatment of kidney stones during flexible ureteroscopy. Efficiency of laser surgery may be affected by patient and operator characteristics or peri…
View article: Biliary Ascites
Biliary Ascites Open
View article: P251: XLH molecular diagnoses and the PHEX gene variant landscape: Sponsored hypophosphatemia gene panel testing findings from 2019 vs 2022
P251: XLH molecular diagnoses and the PHEX gene variant landscape: Sponsored hypophosphatemia gene panel testing findings from 2019 vs 2022 Open
View article: P276: Long-chain fatty acid oxidation disorder genotypes, clinical signs and symptoms, and newborn screening history from a gene panel sponsored program
P276: Long-chain fatty acid oxidation disorder genotypes, clinical signs and symptoms, and newborn screening history from a gene panel sponsored program Open
View article: Kidney Stone Prevalence Based on Self-Report and Electronic Health Records: Insight into the Prevalence of Active Medical Care for Kidney Stones
Kidney Stone Prevalence Based on Self-Report and Electronic Health Records: Insight into the Prevalence of Active Medical Care for Kidney Stones Open
View article: OR13-3 Hypophosphatemia Gene Panel Sponsored Program: A High Yield of Molecular Diagnoses from Clinically Confirmed XLH and Suspected Genetic Hypophosphatemia
OR13-3 Hypophosphatemia Gene Panel Sponsored Program: A High Yield of Molecular Diagnoses from Clinically Confirmed XLH and Suspected Genetic Hypophosphatemia Open
Introduction X-linked hypophosphatemia (XLH), a dominant disorder caused by disease-associated variants in the PHEX gene, affects males and females of all ages. Rickets and osteomalacia may be present along with short stature, lower limb d…
View article: The Reliability of the GNRB® Knee Arthrometer in Measuring ACL Stiffness and Laxity: Implications for Clinical Use and Clinical Trial Design
The Reliability of the GNRB® Knee Arthrometer in Measuring ACL Stiffness and Laxity: Implications for Clinical Use and Clinical Trial Design Open
Background Stability of the knee is dependent on multiple factors including integrity of the anterior cruciate ligament (ACL). Greater knee joint laxity appears to negatively affect dynamic joint function and therefore reliable and valid m…
View article: Design and validation of a non-biohazardous simulation model for Holmium Laser Enucleation of the Prostate (HoLEP)
Design and validation of a non-biohazardous simulation model for Holmium Laser Enucleation of the Prostate (HoLEP) Open
View article: Glucocorticoids are induced while dihydrotestosterone levels are suppressed in 5‐alpha reductase inhibitor treated human benign prostate hyperplasia patients
Glucocorticoids are induced while dihydrotestosterone levels are suppressed in 5‐alpha reductase inhibitor treated human benign prostate hyperplasia patients Open
Background The development of benign prostatic hyperplasia (BPH) and medication‐refractory lower urinary tract symptoms (LUTS) remain poorly understood. This study attempted to characterize the pathways associated with failure of medical t…
View article: Kidney stone prevalence based on self-report and Electronic Health Records: insight into the prevalence of active medical care for kidney stones
Kidney stone prevalence based on self-report and Electronic Health Records: insight into the prevalence of active medical care for kidney stones Open
Introduction Kidney stone prevalence estimates vary depending on sampling methodology. We compared rates of patient-reported kidney stone disease to Electronic Health Records (EHR) kidney stone diagnosis using a common dataset to evaluate …
View article: eP086: Hypophosphatemia gene panel sponsored program: A high yield of molecular diagnoses from clinically confirmed XLH and suspected genetic hypophosphatemia
eP086: Hypophosphatemia gene panel sponsored program: A high yield of molecular diagnoses from clinically confirmed XLH and suspected genetic hypophosphatemia Open
View article: Cover, Volume 43, Issue 2
Cover, Volume 43, Issue 2 Open
The cover image is based on the Research Article Novel PHEX gene locus-specific database: Comprehensive characterization of vast number of variants associated with X-linked hypophosphatemia (XLH) by Yves Sabbagh et al., https://doi.org/10.…
View article: Novel PHEX gene locus‐specific database: Comprehensive characterization of vast number of variants associated with X‐linked hypophosphatemia (XLH)
Novel PHEX gene locus‐specific database: Comprehensive characterization of vast number of variants associated with X‐linked hypophosphatemia (XLH) Open
X-linked hypophosphatemia (XLH), the most common form of hereditary hypophosphatemia, is caused by disrupting variants in the PHEX gene, located on the X chromosome. XLH is inherited in an X-linked pattern with complete penetrance observed…
View article: MP54-10 KIDNEY STONE DISEASE PREVALENCE FROM ADMINISTRATIVE CODING COMPARED TO SELF-REPORT: A REPORT FROM THE ALL OF US RESEARCH PROGRAM
MP54-10 KIDNEY STONE DISEASE PREVALENCE FROM ADMINISTRATIVE CODING COMPARED TO SELF-REPORT: A REPORT FROM THE ALL OF US RESEARCH PROGRAM Open
You have accessJournal of UrologyStone Disease: Epidemiology & Evaluation II (MP54)1 Sep 2021MP54-10 KIDNEY STONE DISEASE PREVALENCE FROM ADMINISTRATIVE CODING COMPARED TO SELF-REPORT: A REPORT FROM THE ALL OF US RESEARCH PROGRAM Connor Fo…
View article: The prostaglandin pathway is activated in patients who fail medical therapy for benign prostatic hyperplasia with lower urinary tract symptoms
The prostaglandin pathway is activated in patients who fail medical therapy for benign prostatic hyperplasia with lower urinary tract symptoms Open
Background Little is known about how benign prostatic hyperplasia (BPH) develops and why patients respond differently to medical therapy designed to reduce lower urinary tract symptoms (LUTS). The Medical Therapy of Prostatic Symptoms (MTO…
View article: Hypophosphatemia Gene Panel Sponsored Program: A High Yield of Molecular Diagnoses from Clinically Confirmed XLH and Suspected Genetic Hypophosphatemia
Hypophosphatemia Gene Panel Sponsored Program: A High Yield of Molecular Diagnoses from Clinically Confirmed XLH and Suspected Genetic Hypophosphatemia Open
X-linked hypophosphatemia (XLH), a dominant disorder caused by a disease-associated variant in the PHEX gene, affects males and females of all ages. Rickets and osteomalacia may be present along with short stature, lower limb deformity, mu…