PMC Articles for MedGen (Select 488838) - PMC

Е. В. Ковалева, А. К. Еремкина, Ю. А. Крупинова, С. С. Мирная, И. В. Ким, Н. С. Кузнецов, Е. Н. Андреева, Т. Л. Каронова, И. В. Крюкова, А. М. Мудунов, И. В. Слепцов, Г. А. Мельниченко, Н. Г. Мокрышева, И. И. Дедов

Probl Endokrinol (Mosk) 2021; 67(4): 68–83. Russian. Published online 2021 Aug 17. doi: 10.14341/probl12800

PMCID:: PMC9753818

Abstract Article PDF–344K

Select item 59831747.

Rapid whole-genome sequencing identifies a novel AIRE variant associated with autoimmune polyendocrine syndrome type 1

Erica Sanford, Kelly Watkins, Shareef Nahas, Michael Gottschalk, Nicole G. Coufal, Lauge Farnaes, David Dimmock, Stephen F. Kingsmore, on behalf of the RCIGM Investigators

Cold Spring Harb Mol Case Stud. 2018 Jun; 4(3): a002485. doi: 10.1101/mcs.a002485

PMCID:: PMC5983174

Abstract Article PDF–830K

Select item 72943498.

Hypocalcemia with Immune Checkpoint Inhibitors: The Disparity among Various Reports

Swarna Sri Nalluru, Paramarajan Piranavan, Ying Ning, Haritha Ackula, Ahmad D. Siddiqui, Nitin Trivedi

Int J Endocrinol. 2020; 2020: 7459268. Published online 2020 Jun 6. doi: 10.1155/2020/7459268

PMCID:: PMC7294349

Abstract Article PDF–569K

Select item 73197189.

Calcium-sensing receptor autoantibody-mediated hypoparathyroidism associated with immune checkpoint inhibitor therapy: diagnosis and long-term follow-up

Ramona Dadu, Theresa E Rodgers, Van A Trinh, Elizabeth Helen Kemp, Trisha D Cubb, Sapna Patel, Julie M Simon, Elizabeth M Burton, Hussein Tawbi

J Immunother Cancer. 2020; 8(1): e000687. Published online 2020 Jun 24. doi: 10.1136/jitc-2020-000687

PMCID:: PMC7319718

Abstract Article PDF–495K

Select item 971606610.

The calcium-sensing receptor in inflammation: Recent updates

Luca Iamartino, Maria Luisa Brandi

Front Physiol. 2022; 13: 1059369. Published online 2022 Nov 18. doi: 10.3389/fphys.2022.1059369

PMCID:: PMC9716066

Abstract Article PDF–1.2M

Select item 944525611.

Hypoparathyroidism as one of the initial presentations of systemic lupus erythematosus

Leyla Gadakchi, Ali‐Asghar Ebrahimi, Vahideh Sadra, Mohammadreza Moslemi, Alireza Khabbazi

Clin Case Rep. 2022 Sep; 10(9): e6288. Published online 2022 Sep 5. doi: 10.1002/ccr3.6288

PMCID:: PMC9445256

Abstract Article PDF–129K

Select item 949774612.

New Approach to Addison Disease: Oral Manifestations Due to Endocrine Dysfunction and Comorbidity Burden

Narcis Mihăiţă Bugălă, Mara Carsote, Loredana Elena Stoica, Dana Maria Albulescu, Mihaela Jana Ţuculină, Smaranda Adelina Preda, Ancuta-Ramona Boicea, Dragoș Ovidiu Alexandru

Diagnostics (Basel) 2022 Sep; 12(9): 2080. Published online 2022 Aug 28. doi: 10.3390/diagnostics12092080

PMCID:: PMC9497746

Abstract Article PDF–1.2M

Select item 354086413.

A Functional Alternative Splicing Mutation in AIRE Gene Causes Autoimmune Polyendocrine Syndrome Type 1

Junyu Zhang, Hongbin Liu, Zhiyuan Liu, Yong Liao, Luo Guo, Honglian Wang, Lin He, Xiaodong Zhang, Qinghe Xing

PLoS One. 2013; 8(1): e53981. Published online 2013 Jan 8. doi: 10.1371/journal.pone.0053981

PMCID:: PMC3540864

Abstract Article PDF–372K

Select item 101618114.

Polyglandular autoimmune syndrome type I among Iranian Jews.

J Zlotogora, M S Shapiro

J Med Genet. 1992 Nov; 29(11): 824–826. doi: 10.1136/jmg.29.11.824

PMCID:: PMC1016181

Summary Page Browse PDF–517K

Select item 534782115.

Novel insight into Chronic Inflammatory Demyelinating Polineuropathy in APECED syndrome: molecular mechanisms and clinical implications in children

Mariella Valenzise, Tommaso Aversa, Giuseppina Salzano, Giuseppina Zirilli, Filippo De Luca, Maureen Su

Ital J Pediatr. 2017; 43: 11. Published online 2017 Jan 19. doi: 10.1186/s13052-017-0331-6

PMCID:: PMC5347821

Abstract Article PDF–439K

Select item 497133716.

A Longitudinal Follow-up of Autoimmune Polyendocrine Syndrome Type 1

Øyvind Bruserud, Bergithe E. Oftedal, Nils Landegren, Martina M. Erichsen, Eirik Bratland, Kari Lima, Anders P. Jørgensen, Anne G. Myhre, Johan Svartberg, Kristian J. Fougner, Åsne Bakke, Bjørn G. Nedrebø, Bjarne Mella, Lars Breivik, Marte K. Viken, Per M. Knappskog, Mihaela C. Marthinussen, Kristian Løvås, Olle Kämpe, Anette B. Wolff, Eystein S. Husebye

J Clin Endocrinol Metab. 2016 Aug; 101(8): 2975–2983. Published online 2016 Jun 2. doi: 10.1210/jc.2016-1821

PMCID:: PMC4971337

Abstract Article

Select item 496448217.

Type 1 Diabetes in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Syndrome (APECED): A “Rare” Manifestation in a “Rare” Disease

Alessandra Fierabracci

Int J Mol Sci. 2016 Jul; 17(7): 1106. Published online 2016 Jul 12. doi: 10.3390/ijms17071106

PMCID:: PMC4964482

Abstract Article PDF–232K

Select item 490047118.

22q11.2 deletion syndrome

Donna M. McDonald-McGinn, Kathleen E. Sullivan, Bruno Marino, Nicole Philip, Ann Swillen, Jacob A. S. Vorstman, Elaine H. Zackai, Beverly S. Emanuel, Joris R. Vermeesch, Bernice E. Morrow, Peter J. Scambler, Anne S. Bassett

Nat Rev Dis Primers. Author manuscript; available in PMC 2016 Jun 9.

Published in final edited form as: Nat Rev Dis Primers. 2015; 1: 15071. Published online 2015 Nov 19. doi: 10.1038/nrdp.2015.71