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Select item 109773531.

How human genetic context can inform pathogenicity classification: FGFR1 variation in idiopathic hypogonadotropic hypogonadism

Wanxue Xu, Lacey Plummer, Stephanie B. Seminara, Ravikumar Balasubramanian, Margaret F. Lippincott

Hum Genet. Author manuscript; available in PMC 2024 Mar 28.

Published in final edited form as: Hum Genet. 2023 Nov; 142(11): 1611–1619. Published online 2023 Oct 7. doi: 10.1007/s00439-023-02601-w

PMCID:: PMC10977353

Article PDF–661K

Select item 109302922.

ANOS1 variants in a large cohort of Chinese patients with congenital hypogonadotropic hypogonadism

ZENG Wang, LI Jiada, WANG Xinying, JIANG Fang, MEN Meichao

Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2022 Jul 28; 47(7): 847–857. doi: 10.11817/j.issn.1672-7347.2022.220071

PMCID:: PMC10930292

Article PDF–1.0M

Select item 108462563.

Reduced olfactory performance is associated with changed microbial diversity, oralization, and accumulation of dead biomaterial in the nasal olfactory area

Christina Kumpitsch, Florian Ph. S. Fischmeister, Sonja Lackner, Sandra Holasek, Tobias Madl, Hansjörg Habisch, Axel Wolf, Veronika Schöpf, Christine Moissl-Eichinger

Microbiol Spectr. 2024 Feb; 12(2): e01549-23. Published online 2024 Jan 9. doi: 10.1128/spectrum.01549-23

PMCID:: PMC10846256

Article PDF–2.9M

Select item 106340634.

Association between SARS-CoV-2 variants and post COVID-19 condition: findings from a longitudinal cohort study in the Belgian adult population

Huyen Nguyen Thi Khanh, Laura Cornelissen, Diego Castanares-Zapatero, Robby De Pauw, Dieter Van Cauteren, Stefaan Demarest, Sabine Drieskens, Brecht Devleesschauwer, Karin De Ridder, Rana Charafeddine, Pierre Smith

BMC Infect Dis. 2023; 23: 774. Published online 2023 Nov 8. doi: 10.1186/s12879-023-08787-8

PMCID:: PMC10634063

Article PDF–1.6M

Select item 104049005.

A Systematic Review of the Neuropathologic Findings of Post-Viral Olfactory Dysfunction: Implications and Novel Insight for the COVID-19 Pandemic

Jason C. Lee, Rohit Nallani, Lauren Cass, Vidur Bhalla, Alexander G. Chiu, Jennifer A. Villwock

Am J Rhinol Allergy. 2021 May; 35(3): 323–333. Published online 2020 Sep 11. doi: 10.1177/1945892420957853

PMCID:: PMC10404900

Article PDF–597K

Select item 96595536.

Warmer ambient air temperatures reduce nasal turbinate and brain infection, but increase lung inflammation in the K18-hACE2 mouse model of COVID-19

Troy Dumenil, Thuy T. Le, Daniel J. Rawle, Kexin Yan, Bing Tang, Wilson Nguyen, Cameron Bishop, Andreas Suhrbier

Sci Total Environ. 2023 Feb 10; 859: 160163. Published online 2022 Nov 14. doi: 10.1016/j.scitotenv.2022.160163

PMCID:: PMC9659553

Article PDF–2.7M

Select item 94312067.

Impact of Fast SARS-CoV-2 Molecular Point-Of-Care Testing on Patients’ Length of Stay in an Emergency Department

Audrey Baron, Olivier Peyrony, Maud Salmona, Nadia Mahjoub, Sami Ellouze, Maud Anastassiou, Constance Delaugerre, Jean-Paul Fontaine, Sylvie Chevret, Jerome LeGoff, Linda Feghoul

Microbiol Spectr. 2022 Jul-Aug; 10(4): e00636-22. Published online 2022 Jun 22. doi: 10.1128/spectrum.00636-22

PMCID:: PMC9431206

Article PDF–311K

Select item 92822528.

Prevalence and Phenotypic Effects of Copy Number Variants in Isolated Hypogonadotropic Hypogonadism

Maria I Stamou, Harrison Brand, Mei Wang, Isaac Wong, Margaret F Lippincott, Lacey Plummer, William F Crowley, Michael Talkowski, Stephanie Seminara, Ravikumar Balasubramanian

J Clin Endocrinol Metab. 2022 Aug; 107(8): 2228–2242. Published online 2022 May 16. doi: 10.1210/clinem/dgac300

PMCID:: PMC9282252

Article

Select item 92437979.

Prevalence of acute olfactory dysfunction differs between variants of SARS-CoV-2—results from chemosensitive testing in wild type, VOC alpha (B.1.1.7) and VOC delta (B.1617.2)

Constantin A. Hintschich, Veronika Vielsmeier, Christopher Bohr, Jan Hagemann, Ludger Klimek

Eur Arch Otorhinolaryngol. 2022; 279(11): 5445–5447. Published online 2022 Jun 29. doi: 10.1007/s00405-022-07431-6

PMCID:: PMC9243797

Article PDF–282K

Select item 867348410.

Association between new-onset anosmia and positive SARS-CoV-2 tests among people accessing outpatient testing in Toronto, Ontario: a retrospective cross-sectional study

Braden O’Neill, Sumeet Kalia, Peter Gill, Susan Hum, Carla Moran-Venegas, Rebecca Stoller, Michelle Greiver, Payal Agarwal, Abirami Kirubarajan, Samuel DeKoven, David Eisen, Andrew Pinto, Sheila Dunn

CMAJ Open. 2021 Oct-Dec; 9(4): E1134–E1140. Published online 2021 Dec 7. doi: 10.9778/cmajo.20210085

PMCID:: PMC8673484

Article PDF–723K

Select item 827654811.

Prognosis of rash and chilblain-like lesions among outpatients with COVID-19: a large cohort study

Hélène Mascitti, Patrick Jourdain, Alexandre Bleibtreu, Luc Jaulmes, Agnès Dechartres, Xavier Lescure, Youri Yordanov, Aurélien Dinh, on behalf of the AP-HP/Universities/INSERM COVID-19 research collaboration

Eur J Clin Microbiol Infect Dis. 2021; 40(10): 2243–2248. Published online 2021 Jul 13. doi: 10.1007/s10096-021-04305-3

PMCID:: PMC8276548

Article PDF–1.0M

Select item 814282212.

Clinical outcomes in COVID-19 patients infected with different SARS-CoV-2 variants in Marseille, France

Thi Loi Dao, Van Thuan Hoang, Nhu Ngoc Nguyen, Jérémy Delerce, Hervé Chaudet, Anthony Levasseur, Jean Christophe Lagier, Didier Raoult, Philippe Colson, Philippe Gautret

Clin Microbiol Infect. 2021 Oct; 27(10): 1516.e1–1516.e6. Published online 2021 May 24. doi: 10.1016/j.cmi.2021.05.029

PMCID:: PMC8142822

Article PDF–524K

Select item 756110513.

Post lockdown COVID-19 seroprevalence and circulation at the time of delivery, France

Jérémie Mattern, Christelle Vauloup-Fellous, Hoda Zakaria, Alexandra Benachi, Julie Carrara, Alexandra Letourneau, Nadège Bourgeois-Nicolaos, Daniele De Luca, Florence Doucet-Populaire, Alexandre J. Vivanti

PLoS One. 2020; 15(10): e0240782. Published online 2020 Oct 15. doi: 10.1371/journal.pone.0240782

PMCID:: PMC7561105

Article PDF–708K

Select item 753217314.

Loss of bacterial diversity in the sinuses is associated with lower smell discrimination scores

Kristi Biswas, Brett Wagner Mackenzie, Charlotte Ballauf, Julia Draf, Richard G. Douglas, Thomas Hummel

Sci Rep. 2020; 10: 16422. Published online 2020 Oct 2. doi: 10.1038/s41598-020-73396-3

PMCID:: PMC7532173

Article PDF–1.5M

Select item 724031315.

Olfactory Dysfunction and Sinonasal Symptomatology in COVID-19: Prevalence, Severity, Timing, and Associated Characteristics

Marlene M. Speth, Thirza Singer-Cornelius, Michael Oberle, Isabelle Gengler, Steffi J. Brockmeier, Ahmad R. Sedaghat

Otolaryngol Head Neck Surg. 2020 Jul; 163(1): 114–120. Published online 2020 May 19. doi: 10.1177/0194599820929185

PMCID:: PMC7240313

Article PDF–349K

Select item 723565916.

Novel SCN9A missense mutations contribute to congenital insensitivity to pain: Unexpected correlation between electrophysiological characterization and clinical phenotype

Jiaoli Sun, Lulu Li, Luyao Yang, Guangyou Duan, Tingbin Ma, Ningbo Li, Yi Liu, Jing Yao, Jing Yu Liu, Xianwei Zhang

Mol Pain. 2020; 16: 1744806920923881. Published online 2020 May 18. doi: 10.1177/1744806920923881

PMCID:: PMC7235659

Article PDF–905K

Select item 695665217.

Clinical and dopamine transporter imaging characteristics of non-manifest LRRK2 and GBA mutation carriers in the Parkinson’s Progression Markers Initiative (PPMI): a cross-sectional study

Tanya Simuni, Liz Uribe, Hyunkeun Ryan Cho, Chelsea Caspell-Garcia, Christopher S Coffey, Andrew Siderowf, John Q Trojanowski, Leslie M Shaw, John Seibyl, Andrew Singleton, Arthur W Toga, Doug Galasko, Tatiana Foroud, Duygu Tosun, Kathleen Poston, Daniel Weintraub, Brit Mollenhauer, Caroline M Tanner, Karl Kieburtz, Lana M Chahine, Alyssa Reimer, Samantha J Hutten, Susan Bressman, Kenneth Marek

Lancet Neurol. Author manuscript; available in PMC 2021 Jan 1.

Published in final edited form as: Lancet Neurol. 2020 Jan; 19(1): 71–80. Published online 2019 Oct 31. doi: 10.1016/S1474-4422(19)30319-9

PMCID:: PMC6956652

Article PDF–576K

Select item 586521318.

Next-generation sequencing of patients with congenital anosmia

Anna Alkelai, Tsviya Olender, Catherine Dode, Sagit Shushan, Pavel Tatarskyy, Edna Furman-Haran, Valery Boyko, Ruth Gross-Isseroff, Matthew Halvorsen, Lior Greenbaum, Roni Milgrom, Kazuya Yamada, Ayumi Haneishi, Ilan Blau, Doron Lancet

Eur J Hum Genet. 2017 Dec; 25(12): 1377–1387. Published online 2017 Nov 13. doi: 10.1038/s41431-017-0014-1

PMCID:: PMC5865213

Article PDF–788K

Select item 503483919.

Delineating nonmotor symptoms in early Parkinson's disease and first‐degree relatives

Fahd Baig, Michael Lawton, Michal Rolinski, Claudio Ruffmann, Kannan Nithi, Samuel G. Evetts, Hugo R. Fernandes, Yoav Ben‐Shlomo, Michele T.M Hu

Mov Disord. 2015 Nov; 30(13): 1759–1766. Published online 2015 Jul 14. doi: 10.1002/mds.26281

PMCID:: PMC5034839

Article PDF–338K

Select item 356485220.

Human Trace Amine-Associated Receptor TAAR5 Can Be Activated by Trimethylamine

Ivonne Wallrabenstein, Jonas Kuklan, Lea Weber, Sandra Zborala, Markus Werner, Janine Altmüller, Christian Becker, Anna Schmidt, Hanns Hatt, Thomas Hummel, Günter Gisselmann

PLoS One. 2013; 8(2): e54950. Published online 2013 Feb 5. doi: 10.1371/journal.pone.0054950

PMCID:: PMC3564852

Article PDF–431K

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