Allen Bowling, MD PhD - Related publications

Affiliations: 
Private Practice, Denver, Colorado, Denver, CO, United States 
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50 most relevant papers in past 60 days:
Year Citation  Score
2020 Wang J, Hou Y, Qi L, Zhai S, Zheng L, Han L, Guo Y, Zhang B, Miao P, Lou Y, Xu X, Wang Y, Ren Y, Cao Z, Feng J. Autosomal dominant hereditary spastic paraplegia caused by mutation of UBAP1. Neurogenetics. PMID 32222895 DOI: 10.1007/s10048-020-00608-3   
2020 Stienen MN, Rezaii PG, Ho AL, Veeravagu A, Zygourakis CC, Tomkins-Lane C, Park J, Ratliff JK, Desai AM. Objective activity tracking in spine surgery: a prospective feasibility study with a low-cost consumer grade wearable accelerometer. Scientific Reports. 10: 4939. PMID 32188895 DOI: 10.1038/s41598-020-61893-4   
2020 Joshi PR, Deschauer M, Zierz S. McArdle Disease: Clinical, Biochemical, Histological and Molecular Genetic Analysis of 60 Patients. Biomedicines. 8. PMID 32075227 DOI: 10.3390/biomedicines8020033   
2020 Wang Y, Wang O, Nie M, Li Y, Jiang Y, Li M, Xia W, Xing X. CLINICAL AND GENETIC FINDINGS IN A CHINESE COHORT OF PATIENTS WITH DIGEORGE SYNDROME-RELATED HYPOPARATHYROIDISM. Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists. PMID 32045288 DOI: 10.4158/EP-2019-0498   
2020 Yeter HH, Korucu B, Bali EB, Derici U. Association between calcitriol and paricalcitol with oxidative stress in patients with hemodialysis. International Journal For Vitamin and Nutrition Research. Internationale Zeitschrift Fur Vitamin- Und Ernahrungsforschung. Journal International De Vitaminologie Et De Nutrition. 1-8. PMID 32065560 DOI: 10.1024/0300-9831/a000641   
2020 Xiang Q, Zhang L, Liu X, Wang S, Wang T, Xiao M, Zhao X, Jiang L. Autosomal Dominant Hyper IgE Syndrome from a single center in Chongqing, China (2009-2018). Scandinavian Journal of Immunology. e12885. PMID 32248557 DOI: 10.1111/sji.12885   
2020 Yip PL, Lau JSM, Lam CP. Venetoclax monotherapy induced rapid and sustained response in a frail patient with refractory AL amyloidosis: Less is more? International Journal of Hematology. PMID 32207051 DOI: 10.1007/s12185-020-02857-2   
2020 You Y, Li L, Lu J, Wu H, Wang J, Gao J, Wu M, Liang Z. Germline and Somatic Mutations in 172 Chinese Women With Epithelial Ovarian Cancer. Frontiers in Oncology. 10: 295. PMID 32211327 DOI: 10.3389/fonc.2020.00295   
2020 Williamson M, Traboulsi E, DeBenedictis M. Investigation of CEP290 genotype-phenotype correlations in a patient with retinitis pigmentosa, infertility, end-stage renal disease, and a novel mutation. Ophthalmic Genetics. 1-4. PMID 32208788 DOI: 10.1080/13816810.2020.1744017   
2020 Willis BR, Lee M, Rethanavelu K, Fung JLF, Wong RMS, Hui P, Yeung KS, Lo IFM, Chung BHY. A case of G1013R FBN1 mutation: A potential genotype-phenotype correlation in severe Marfan syndrome. American Journal of Medical Genetics. Part A. PMID 32198975 DOI: 10.1002/ajmg.a.61567   
2020 Mani R, Bouguila J, Ameur SB, Hachicha M, Soua Z, Mabrouk I. A novel variant in a Tunisian patient with primary ciliary dyskinesia. Journal of Genetics. 99. PMID 32089523   
2020 Chang PY, Lyu SY, Lin YF, Huang CC. High Level of Physical Activity Reduces the Risk of Renal Progression in Hypertensive Patients. International Journal of Environmental Research and Public Health. 17. PMID 32143399 DOI: 10.3390/ijerph17051669   
2020 Buttitta F, Felicioni L, Lorito AD, Cortellini A, Irtelli L, Brocco D, Marino PD, Traisci D, D'Ostilio N, Paolo AD, Malorgio F, Assalone P, Felice SD, Fabbri F, Cianci G, et al. Early prediction of resistance to tyrosine kinase inhibitors by plasma monitoring of mutations in NSCLC: a new algorithm for patient selection and personalized treatment. Oncotarget. 11: 982-991. PMID 32215186 DOI: 10.18632/oncotarget.27517   
2020 Keller R, Mazurak N, Fantasia L, Fusco S, Malek NP, Wehkamp J, Enck P, Klag T. Quality of life in inflammatory bowel diseases: it is not all about the bowel. Intestinal Research. PMID 32093437 DOI: 10.5217/ir.2019.00135   
2020 Keith JL, Swinkin E, Gao A, Alminawi S, Zhang M, McGoldrick P, McKeever P, Robertson J, Rogaeva E, Zinman L. Neuropathologic description of mutated amyotrophic lateral sclerosis. Neurology. Genetics. 6: e394. PMID 32042922 DOI: 10.1212/NXG.0000000000000394   
2020 Brandt A, Agarwal N, Giri D, Yung Z, Didi M, Senniappan S. Hyperinsulinism hyperammonaemia (HI/HA) syndrome due to GLUD1 mutation: phenotypic variations ranging from late presentation to spontaneous resolution. Journal of Pediatric Endocrinology & Metabolism : Jpem. PMID 32229669 DOI: 10.1515/jpem-2019-0416   
2020 Desgrouas C, Varlet AA, Dutour A, Galant D, Merono F, Bonello-Palot N, Bourgeois P, Lasbleiz A, Petitjean C, Ancel P, Levy N, Badens C, Gaborit B. Unraveling Mutations in Metabolic Syndrome: Cellular Phenotype and Clinical Pitfalls. Cells. 9. PMID 32012908 DOI: 10.3390/cells9020310   
2020 Ceccarini G, Magno S, Pelosini C, Ferrari F, Sessa MR, Scabia G, Maffei M, Jéru I, Lascols O, Vigouroux C, Santini F. Congenital Generalized Lipoatrophy (Berardinelli-Seip Syndrome) Type 1: Description of Novel Homozygous Variants Showing the Highly Heterogeneous Presentation of the Disease. Frontiers in Endocrinology. 11: 39. PMID 32117065 DOI: 10.3389/fendo.2020.00039   
2020 Petters J, Cimmaruta C, Iwanov K, Chang ML, Völkner C, Knuebel G, Escobar HM, Frech MJ, Hermann A, Rolfs A, Lukas J. Generation of induced pluripotent stem cell lines AKOSi002-A and AKOSi003-A from symptomatic female adults with Wilson disease. Stem Cell Research. 43: 101708. PMID 32028086 DOI: 10.1016/j.scr.2020.101708   
2020 Urowitz MB, Gladman DD, Ibañez D, Su J, Mursleen S, Sayani A, Alfonso J, Terres R, Iczkovitz S. Impact of disease activity on organ damage progression in systemic lupus erythematosus: University of Toronto Lupus Clinic Cohort. The Journal of Rheumatology. PMID 32238510 DOI: 10.3899/jrheum.190259   
2020 Staretz-Chacham O, Noyman I, Wormser O, Abu Quider A, Hazan G, Morag I, Hadar N, Raymond K, Birk OS, Ferreira CR, Koifman A. B4GALT1-CDG: Expansion of the phenotypic and molecular spectrum and review of the literature. Clinical Genetics. PMID 32157688 DOI: 10.1111/cge.13735   
2020 Molenaar JP, Verhoeven JI, Rodenburg RJ, Kamsteeg EJ, Erasmus CE, Vicart S, Behin A, Bassez G, Magot A, Péréon Y, Brandom BW, Guglielmi V, Vattemi G, Chevessier F, Mathieu J, et al. Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients. Brain : a Journal of Neurology. 143: 452-466. PMID 32040565 DOI: 10.1093/brain/awz410   
2020 Sellami L, Rucheton B, Ben Younes I, Camuzat A, Saracino D, Rinaldi D, Epelbaum S, Azuar C, Levy R, Auriacombe S, Hannequin D, Pariente J, Barbier M, Boutoleau-Bretonnière C, Couratier P, ... , ... , et al. Plasma progranulin levels for frontotemporal dementia in clinical practice: a 10-year French experience. Neurobiology of Aging. PMID 32171590 DOI: 10.1016/j.neurobiolaging.2020.02.014   
2020 Sasatani Y, Okauchi S, Ohara G, Kagohashi K, Satoh H. Long-term maintenance of nutritional status with ninjinyoueito in terminal patients with chronic respiratory disease: Two case reports. Biomedical Reports. 12: 121-124. PMID 32042420 DOI: 10.3892/br.2019.1267   
2020 Brogan M, Astor BC, Melamed ML. Vitamin D in chronic kidney disease: is there a role outside of PTH control? Current Opinion in Nephrology and Hypertension. 29: 243-247. PMID 31996592 DOI: 10.1097/MNH.0000000000000591   
2020 Brogan M, Astor BC, Melamed ML. Vitamin D in chronic kidney disease: is there a role outside of PTH control? Current Opinion in Nephrology and Hypertension. PMID 32101885 DOI: 10.1097/MNH.0000000000000591   
2020 Grinde D, Øverland T, Lima K, Schjalm C, Mollnes TE, Abrahamsen TG. Complement Activation in 22q11.2 Deletion Syndrome. Journal of Clinical Immunology. PMID 32152940 DOI: 10.1007/s10875-020-00766-x   
2020 Feng WX, Yang XY, Li JW, Gong S, Wu Y, Zhang WH, Han TL, Zhuo XW, Ding CH, Fang F. Neurologic Manifestations as Initial Clinical Presentation of Familial Hemophagocytic Lymphohistiocytosis Type2 Due to Mutation in Chinese Pediatric Patients. Frontiers in Genetics. 11: 126. PMID 32194620 DOI: 10.3389/fgene.2020.00126   
2020 Quarello P, Garelli E, Carando A, Cillario R, Brusco A, Giorgio E, Ferrante D, Corti P, Zecca M, Luciani M, Pierri F, Putti MC, Cantarini ME, Farruggia P, Barone A, ... , et al. A 20-year long term experience of the Italian Diamond-Blackfan Anaemia Registry: RPS and RPL genes, different faces of the same disease? British Journal of Haematology. PMID 32080838 DOI: 10.1111/bjh.16508   
2020 Silva DP, Soeiro E Sá M, Silveira F, Pinto S, Gromicho M, Sousa AB, Leão M, De Carvalho M. variants in two Portuguese unrelated patients with childhood-onset motor neuron disease. Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration. 1-5. PMID 32242460 DOI: 10.1080/21678421.2020.1746343   
2020 Kripps K, Nakayuenyongsuk W, Shayota BJ, Berquist W, Gomez-Ospina N, Esquivel CO, Concepcion W, Sampson JB, Cristin DJ, Jackson WE, Gilliland S, Pomfret EA, Kueht ML, Pettit RW, Sherif YA, et al. Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). Molecular Genetics and Metabolism. PMID 32173240 DOI: 10.1016/j.ymgme.2020.03.001   
2020 Bäcker-Koduah P, Bellmann-Strobl J, Scheel M, Wuerfel J, Wernecke KD, Dörr J, Brandt AU, Paul F. Vitamin D and Disease Severity in Multiple Sclerosis-Baseline Data From the Randomized Controlled Trial (EVIDIMS). Frontiers in Neurology. 11: 129. PMID 32158426 DOI: 10.3389/fneur.2020.00129   
2020 Wu SM, Gao JZ, He B, Long WJ, Luo XP, Chen L. A Novel NR0B1 Gene Mutation Causes Different Phenotypes in Two Male Patients with Congenital Adrenal Hypoplasia. Current Medical Science. 40: 172-177. PMID 32166680 DOI: 10.1007/s11596-020-2161-9   
2020 Bianchi P, Fermo E, Lezon-Geyda K, van Beers E, Morton DH, Barcellini W, Glader B, Chonat S, Ravindranath Y, Newburger P, Kollmar N, Despotovic J, Verhovsek M, Sharma M, Kwiatkowski JL, et al. Genotype-Phenotype Correlation and Molecular Heterogeneity in Pyruvate Kinase Deficiency. American Journal of Hematology. PMID 32043619 DOI: 10.1002/ajh.25753   
2020 Faiyaz-Ul-Haque M, Jamil M, Aslam M, Abalkhail H, Al-Dayel F, Basit S, Nawaz Z, Zaidi SHE. Novel and recurrent germline mutations in the VHL gene in 5 Arab patients with Von Hippel-Lindau disease. Cancer Genetics. 243: 1-6. PMID 32179488 DOI: 10.1016/j.cancergen.2020.02.006   
2020 Razazian N, Kazeminia M, Moayedi H, Daneshkhah A, Shohaimi S, Mohammadi M, Jalali R, Salari N. The impact of physical exercise on the fatigue symptoms in patients with multiple sclerosis: a systematic review and meta-analysis. Bmc Neurology. 20: 93. PMID 32169035 DOI: 10.1186/s12883-020-01654-y   
2020 Choi S, Jang J, Heo YJ, Kang SY, Kim ST, Lee J, Kang WK, Kim JW, Kim KM. CDH1 mutations in gastric cancers are not associated with family history. Pathology, Research and Practice. 152941. PMID 32241597 DOI: 10.1016/j.prp.2020.152941   
2020 Hossain A, Lördal M, Olsson AE, Storlåhls A, Aleman S, Eberhardson M, Befrits R. Sustained clinical benefit, improved quality of life, and reduced intestinal surgery from maintenance infliximab treatment in inflammatory bowel disease. Scandinavian Journal of Gastroenterology. 1-6. PMID 32052663 DOI: 10.1080/00365521.2020.1722738   
2020 Mak LY, Tong TSM, Cheung KS, Chen LJ, Lui KL, Lau KS, Leung WK. Combined Use of Common Fecal and Blood Markers for Detection of Endoscopically Active Inflammatory Bowel Disease. Clinical and Translational Gastroenterology. 11: e00138. PMID 32132451 DOI: 10.14309/ctg.0000000000000138   
2020 Miron B, Hoffman-Censits JH, Anari F, O'Neill J, Geynisman DM, Zibelman MR, Kutikov A, Viterbo R, Greenberg RE, Chen D, Lallas CD, Trabulsi EJ, Alpaugh RK, Dulaimi E, Golemis EA, et al. Defects in DNA Repair Genes Confer Improved Long-term Survival after Cisplatin-based Neoadjuvant Chemotherapy for Muscle-invasive Bladder Cancer. European Urology Oncology. PMID 32165095 DOI: 10.1016/j.euo.2020.02.003   
2020 Chen H, Zhang Q, Chen R, Yuan X, Lin X, Yang X, Zhang Y. Lipoid Congenital Adrenal Hyperplasia due to Steroid Acute Regulatory Protein (STAR) Variants in Three Chinese Patients. The Journal of Steroid Biochemistry and Molecular Biology. 105635. PMID 32068072 DOI: 10.1016/j.jsbmb.2020.105635   
2020 Morton H, Pedley KC, Stewart RJ, Coad J. Vitamin D concentrations in New Zealanders with and without inflammatory bowel disease: do they differ? The New Zealand Medical Journal. 133: 61-70. PMID 32161422   
2020 Husby S, Favero F, Nielsen C, Sørensen BS, Bæch J, Grell K, Hansen JW, Rodriguez-Gonzalez FG, Haastrup EK, Fischer-Nielsen A, Andersen P, Arboe B, Sækmose SG, Hansen PB, Christiansen I, et al. Clinical impact of clonal hematopoiesis in patients with lymphoma undergoing ASCT: a national population-based cohort study. Leukemia. PMID 32203146 DOI: 10.1038/s41375-020-0795-z   
2020 Crisà E, Kulasekararaj AG, Adema V, Such E, Schanz J, Haase D, Shirneshan K, Best S, Mian SA, Kizilors A, Cervera J, Lea N, Ferrero D, Germing U, Hildebrandt B, et al. Impact of somatic mutations in myelodysplastic patients with isolated partial or total loss of chromosome 7. Leukemia. PMID 32066866 DOI: 10.1038/s41375-020-0728-x   
2020 Han R, Huang L, Jiang H, Dong J, Peng H, Zhang D. Early Clinical and CT Manifestations of Coronavirus Disease 2019 (COVID-19) Pneumonia. Ajr. American Journal of Roentgenology. 1-6. PMID 32181672 DOI: 10.2214/AJR.20.22961   
2020 Untas A, Vioulac C, Boujut E, Delannoy C, Poivret D, Rat AC, Beauvais C, Giraudet Le Quintrec JS. What Is Relatives' Role in Arthritis Management? A Qualitative Study of the Perceptions of Patient-Relative Dyads. Patient Preference and Adherence. 14: 45-53. PMID 32021116 DOI: 10.2147/PPA.S231919   
2020 Ng Y, Li Z, Chua YX, Chaw WL, Zhao Z, Er B, Pung R, Chiew CJ, Lye DC, Heng D, Lee VJ. Evaluation of the Effectiveness of Surveillance and Containment Measures for the First 100 Patients with COVID-19 in Singapore - January 2-February 29, 2020. Mmwr. Morbidity and Mortality Weekly Report. 69: 307-311. PMID 32191691 DOI: 10.15585/mmwr.mm6911e1   
2020 Salvati M, Bruzzaniti P, Relucenti M, Nizzola M, Familiari P, Giugliano M, Scafa AK, Galletta S, Li X, Chen R, Barbaranelli C, Frati A, Santoro A. Retrospective and Randomized Analysis of Influence and Correlation of Clinical and Molecular Prognostic Factors in a Mono-Operative Series of 122 Patients with Glioblastoma Treated with STR or GTR. Brain Sciences. 10. PMID 32050461 DOI: 10.3390/brainsci10020091   
2020 Franck M, Ghozzi R, Pajaud J, Lawson-Hogban NE, Mas M, Lacout A, Perronne C. : 43 Cases Diagnosed in France by Real-Time PCR in Patients With Persistent Polymorphic Signs and Symptoms. Frontiers in Medicine. 7: 55. PMID 32181254 DOI: 10.3389/fmed.2020.00055   
2020 Wang W, Yao T, Zhang T, Quan M, Wang C, Wang C, Zhang L, Tang X, Jian S, Song H. Selective immunoglobulin A deficiency (SIgAD) primarily leads to recurrent infections and autoimmune diseases: A retrospective study of Chinese patients in the past 40 years. Genes & Diseases. 7: 115-121. PMID 32181282 DOI: 10.1016/j.gendis.2019.10.014