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Select item 109702211.

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

Abstract Article PDF–2.9M

Select item 112168472.

Rabson-Mendenhall Syndrome: Analysis of the Clinical Characteristics and Gene Mutations in 42 Patients

Wenfeng Gong, Wenzhe Chen, Jianjun Dong, Lin Liao

J Endocr Soc. 2024 Jul 1; 8(8): bvae123. Published online 2024 Jun 16. doi: 10.1210/jendso/bvae123

PMCID:: PMC11216847

Abstract Article PDF–771K

Select item 33425523.

Two Novel Insulin Receptor Gene Mutations in a Patient with Rabson-Mendenhall Syndrome: The First Korean Case Confirmed by Biochemical, and Molecular Evidence

Doosoo Kim, Sung Yoon Cho, Sung-Hee Yeau, Sung Won Park, Young Bae Sohn, Min-Jung Kwon, Ji-Yeon Kim, Chang-Seok Ki, Dong-Kyu Jin

J Korean Med Sci. 2012 May; 27(5): 565–568. Published online 2012 Apr 25. doi: 10.3346/jkms.2012.27.5.565

PMCID:: PMC3342552

Abstract Article PDF–832K

Select item 35981974.

Renal manifestations of severe Rabson-Mendenhall syndrome: a case report

Yih Harng Chong, Barry J Taylor, Benjamin J Wheeler

J Diabetes Metab Disord. 2013; 12: 7. Published online 2013 Jan 22. doi: 10.1186/2251-6581-12-7

PMCID:: PMC3598197

Abstract Article PDF–1.9M

Select item 88522135.

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

Abstract Article

Select item 42485316.

Rabson-Mendenhall Syndrome

Iffat Hassan, Hinah Altaf, Atiya Yaseen

Indian J Dermatol. 2014 Nov-Dec; 59(6): 633. doi: 10.4103/0019-5154.143579

PMCID:: PMC4248531

Abstract Article

Select item 79365757.

Insulin, Insulin Everywhere: A Rare Case Report of Rabson-Mendenhall Syndrome

Siddharth Gosavi, Samarth Sangamesh, Amogh Ananda Rao, Suman Patel, Vishwakarma C Hodigere

Cureus. 2021 Feb; 13(2): e13126. Published online 2021 Feb 4. doi: 10.7759/cureus.13126

PMCID:: PMC7936575

Abstract Article PDF–1.0M

Select item 51148248.

Rabson Mendenhall Syndrome caused by a novel missense mutation

Krishnapradeep Sinnarajah, M. B. K. C. Dayasiri, N. D. W. Dissanayake, S. T. Kudagammana, A. H. H. M. Jayaweera

Int J Pediatr Endocrinol. 2016; 2016: 21. Published online 2016 Nov 17. doi: 10.1186/s13633-016-0039-1

PMCID:: PMC5114824

Abstract Article PDF–605K

Select item 59853909.

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

Abstract Article PDF–358K

Select item 29671510.

Five mutant alleles of the insulin receptor gene in patients with genetic forms of insulin resistance.

T Kadowaki, H Kadowaki, M M Rechler, M Serrano-Rios, J Roth, P Gorden, S I Taylor

J Clin Invest. 1990 Jul; 86(1): 254–264. doi: 10.1172/JCI114693

PMCID:: PMC296715

Summary Page Browse PDF–2.2M

Select item 381626711.

Metreleptin Improves Blood Glucose in Patients With Insulin Receptor Mutations

Rebecca J. Brown, Elaine Cochran, Phillip Gorden

J Clin Endocrinol Metab. 2013 Nov; 98(11): E1749–E1756. Published online 2013 Aug 22. doi: 10.1210/jc.2013-2317

PMCID:: PMC3816267

Abstract Article

Select item 509325212.

Computational Analysis of Damaging Single-Nucleotide Polymorphisms and Their Structural and Functional Impact on the Insulin Receptor

Zabed Mahmud, Syeda Umme Fahmida Malik, Jahed Ahmed, Abul Kalam Azad

Biomed Res Int. 2016; 2016: 2023803. Published online 2016 Oct 20. doi: 10.1155/2016/2023803

PMCID:: PMC5093252

Abstract Article PDF–1.6M

Select item 578564613.

A Mutation in INSR in a Child Presenting with Severe Acanthosis Nigricans

Hale Tuhan, Serdar Ceylaner, Özlem Nalbantoğlu, Sezer Acar, Ayhan Abacı, Ece Böber, Korcan Demir

J Clin Res Pediatr Endocrinol. 2017 Dec; 9(4): 371–374. Published online 2017 Dec 15. doi: 10.4274/jcrpe.4577

PMCID:: PMC5785646

Abstract Article PDF–677K

Select item 598376514.

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

Abstract Article PDF–1.5M

Select item 644548715.

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

Abstract Article PDF–3.9M

Select item 793559316.

A New Mutation of the INSR Gene in a 13-Year-Old Girl with Severe Insulin Resistance Syndrome in China

Jing Jin, Xinxin Liang, Jie Wei, Lingling Xu

Biomed Res Int. 2021; 2021: 8878149. Published online 2021 Feb 25. doi: 10.1155/2021/8878149

PMCID:: PMC7935593

Abstract Article PDF–373K

Select item 811741617.

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

Abstract Article PDF–890K

Select item 975070318.

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

Abstract Article PDF–515K

Select item 1044855219.

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

Abstract Article PDF–412K

Select item 732512120.

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

Abstract Article PDF–1.6M

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