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Items: 1 to 20 of 56

1.
“An unprecedented occurrence: a case report of pulmonary hypertension manifestation in Donohue syndrome”
Ahmed Shamil Hashim, Mustafa Najah Al-Obaidi, Ahmed Dheyaa Al-Obaidi, Saleh Abdulkareem Saleh, Hashim Talib Hashim, Mina Al Saeedi, Basma Ataallah
BMC Pediatr. 2024; 24: 327. Published online 2024 May 11. doi: 10.1186/s12887-024-04714-1
PMCID:
PMC11110280
ArticlePDF–1.0M
2.
A Novel Mutation in the INSR Gene Causes Severe Insulin Resistance and Rabson–Mendenhall Syndrome in a Paraguayan Patient
Maria Natalia Rojas Velazquez, Fabiola Blanco, Ana Ayala-Lugo, Lady Franco, Valerie Jolly, Denisse Di Tore, Idoia Martínez de Lapiscina, Marco Janner, Christa E. Flück, Amit V. Pandey
Int J Mol Sci. 2024 Mar; 25(6): 3143. Published online 2024 Mar 8. doi: 10.3390/ijms25063143
PMCID:
PMC10970221
ArticlePDF–2.9M
3.
Duodenogastric Intussusception in a 14-Week-Old Infant with Donohue Syndrome: Case Study
Corina Ramona Nicolescu, Clara Cremillieux, Jean-Louis Stephan
Case Rep Pediatr. 2023; 2023: 7799234. Published online 2023 Oct 18. doi: 10.1155/2023/7799234
PMCID:
PMC10599843
ArticlePDF–695K
4.
Syndrome of Congenital Insulin Resistance Caused by a Novel INSR Gene Mutation
Aleksandra Rojek, Beata Wikiera, Anna Noczynska, Marek Niedziela
J Clin Res Pediatr Endocrinol. 2023 Sep; 15(3): 312–317. Published online 2023 Aug 23. doi: 10.4274/jcrpe.galenos.2021.2021.0256
PMCID:
PMC10448552
ArticlePDF–412K
5.
The ACE-inhibitor drug captopril inhibits ACN-1 to control dauer formation and aging
Brian M. Egan, Franziska Pohl, Xavier Anderson, Shoshana C. Williams, Imienreluefe Gregory Adodo, Patrick Hunt, Zuoxu Wang, Chen-Hao Chiu, Andrea Scharf, Matthew Mosley, Sandeep Kumar, Daniel L. Schneider, Hideji Fujiwara, Fong-Fu Hsu, Kerry Kornfeld
Version 1. bioRxiv. Preprint. 2023 Jul 19. doi: 10.1101/2023.07.17.549402
Published in:
Development. 2024 Feb 1; 151(3): dev202146.
PMCID:
PMC10370070
Article
6.
Синдром Донохью. Описание клинического случая и опыт применения непрерывной подкожной помповой терапии рекомбинантным ИФР-1
М. А. Меликян, Т. Е. Иванникова, Н. В. Милованова, А. A. Колодкина, О. Б. Безлепкина, Н. Г. Мокрышева
Probl Endokrinol (Mosk) 2022; 68(5): 79–86. Russian. Published online 2022 Jun 22. doi: 10.14341/probl13121
PMCID:
PMC9762435
ArticlePDF–1.6M
7.
INSR novel mutations identified in a Chinese family with severe INSR-related insulin resistance syndromes: A case report
Lu Yu, Fang Yu, Zongrui Ma, Huilin Lu, Jian Luo, Ting Sun, Qin Liu, Shenglian Gan
Medicine (Baltimore) 2022 Dec 9; 101(49): e32266. Published online 2022 Dec 9. doi: 10.1097/MD.0000000000032266
PMCID:
PMC9750703
ArticlePDF–515K
8.
Long-Term Effects of Metreleptin in Rabson-Mendenhall Syndrome on Glycemia, Growth, and Kidney Function
Marinna C Okawa, Elaine Cochran, Marissa Lightbourne, Rebecca J Brown
J Clin Endocrinol Metab. 2022 Mar; 107(3): e1032–e1046. Published online 2021 Oct 28. doi: 10.1210/clinem/dgab782
PMCID:
PMC8852213
Article
9.
Severe insulin resistance syndrome – A rare case report and review of literature
Sourabh Ramesh Joshi, Gowri Swaminatham Pendyala, Pratima Shah, Bhushan Pustake, Viddyasagar Mopagar, Neeta Padmawar
Natl J Maxillofac Surg. 2021 Jan-Apr; 12(1): 100–105. Published online 2021 Mar 16. doi: 10.4103/njms.NJMS_55_20
PMCID:
PMC8191564
ArticlePDF–1.6M
10.
Clinical and Functional Characterization of Novel INSR Variants in Two Families With Severe Insulin Resistance Syndrome
Qiaoli Zhou, Jing Yu, Xuewen Yuan, Chunli Wang, Ziyang Zhu, Aihua Zhang, Wei Gu
Front Endocrinol (Lausanne) 2021; 12: 606964. Published online 2021 Apr 29. doi: 10.3389/fendo.2021.606964
PMCID:
PMC8117416
ArticlePDF–890K
11.
Homozygous Mutation in the Insulin Receptor Gene Associated with Mild Type A Insulin Resistance Syndrome: A Case Report
Bülent Hacihamdioğlu, Elif Gülşah Baş, Kenan Delil
J Clin Res Pediatr Endocrinol. 2021 Mar; 13(1): 100–103. Published online 2021 Feb 26. doi: 10.4274/jcrpe.galenos.2020.2019.0213
PMCID:
PMC7947722
ArticlePDF–775K
12.
Etiologic distribution and clinical characteristics of pediatric diabetes in 276 children and adolescents with diabetes at a single academic center
Ja Hye Kim, Yena Lee, Yunha Choi, Gu-Hwan Kim, Han-Wook Yoo, Jin-Ho Choi
BMC Pediatr. 2021; 21: 108. Published online 2021 Mar 4. doi: 10.1186/s12887-021-02575-6
PMCID:
PMC7931559
ArticlePDF–698K
13.
Intrauterine Growth Restriction and Hypertrophic Cardiomyopathy as Prenatal Ultrasound Findings in a Case of Leprechaunism
Kevin Perge, Mona Massoud, Hélène Gauthier-Moulinier, Olivier Lascols, Nicolas Pangaud, Carine Villanueva, Linda Pons
Mol Syndromol. 2020 Nov; 11(4): 223–227. Published online 2020 Sep 2. doi: 10.1159/000509837
PMCID:
PMC7675228
ArticlePDF–520K
14.
Two Novel Variants and One Previously Reported Variant in the Insulin Receptor Gene in Two Cases with Severe Insulin Resistance Syndrome
Aydilek Dagdeviren Cakir, Said Saidov, Hande Turan, Serdar Ceylaner, Yavuz Özer, Tufan Kutlu, Oya Ercan, Olcay Evliyaoglu
Mol Syndromol. 2020 Jun; 11(2): 90–96. Published online 2020 Mar 18. doi: 10.1159/000506722
PMCID:
PMC7325121
ArticlePDF–1.6M
15.
Clinical characteristics of insulin resistance syndromes: A nationwide survey in Japan
Takehito Takeuchi, Yasushi Ishigaki, Yushi Hirota, Yutaka Hasegawa, Tohru Yorifuji, Hiroko Kadowaki, Takashi Akamizu, Wataru Ogawa, Hideki Katagiri
J Diabetes Investig. 2020 May; 11(3): 603–616. Published online 2019 Dec 5. doi: 10.1111/jdi.13171
PMCID:
PMC7232299
ArticlePDF–809K
16.
Neonatal cardiac hypertrophy: the role of hyperinsulinism—a review of literature
Nina D. Paauw, Raymond Stegeman, Monique A. M. J. de Vroede, Jacqueline U. M. Termote, Matthias W. Freund, Johannes M. P. J. Breur
Eur J Pediatr. 2020; 179(1): 39–50. Published online 2019 Dec 16. doi: 10.1007/s00431-019-03521-6
PMCID:
PMC6942572
ArticlePDF–1.1M
17.
MORFAN Syndrome: A Rarity but a Reality!
Gourab Roy, Sumit Sen, Shreya Poddar
Indian J Dermatol. 2019 May-Jun; 64(3): 231–234. doi: 10.4103/ijd.IJD_160_19
PMCID:
PMC6537694
Article
18.
Evaluation of anti-insulin receptor antibodies as potential novel therapies for human insulin receptoropathy using cell culture models
Gemma V. Brierley, Kenneth Siddle, Robert K. Semple
Diabetologia. 2018; 61(7): 1662–1675. Published online 2018 Apr 27. doi: 10.1007/s00125-018-4606-2
PMCID:
PMC6445487
ArticlePDF–3.9M
19.
One Novel 2.43Kb Deletion and One Single Nucleotide Mutation of the INSR Gene in a Chinese Neonate with Rabson-Mendenhall Syndrome
Xiang Chen, Huijun Wang, Bingbing Wu, Xinran Dong, Bo Liu, Hongbo Chen, Yulan Lu, Wenhao Zhou, Lin Yang
J Clin Res Pediatr Endocrinol. 2018 Jun; 10(2): 183–187. Published online 2018 May 18. doi: 10.4274/jcrpe.5080
PMCID:
PMC5985390
ArticlePDF–358K
20.
Mecasermin in Insulin Receptor-Related Severe Insulin Resistance Syndromes: Case Report and Review of the Literature
Michaela Plamper, Bettina Gohlke, Felix Schreiner, Joachim Woelfle
Int J Mol Sci. 2018 May; 19(5): 1268. Published online 2018 Apr 24. doi: 10.3390/ijms19051268
PMCID:
PMC5983765
ArticlePDF–1.5M

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