PMC Articles for MedGen (Select 108454) - PMC

Esteban Astiazaran-Symonds, Gina M. Ney, Cecilia Higgs, Leatrisse Oba, Radhika Srivastava, Alicia A. Livinski, Philip S. Rosenberg, Douglas R. Stewart

Br J Cancer. 2023 Jun 15; 128(11): 2089–2096. Published online 2023 Mar 25. doi: 10.1038/s41416-023-02229-7

PMCID:: PMC10205753

Article PDF–902K

Select item 96241754.

Increased osteoclastogenesis contributes to bone loss in the Costello syndrome Hras G12V mouse model

Sayantan Nandi, Saravanakkumar Chennappan, Yannik Andrasch, Miray Fidan, Melanie Engler, Mubashir Ahmad, Jan P. Tuckermann, Martin Zenker, Ion Cristian Cirstea

Front Cell Dev Biol. 2022; 10: 1000575. Published online 2022 Oct 18. doi: 10.3389/fcell.2022.1000575

PMCID:: PMC9624175

Article PDF–2.8M

Select item 94370315.

A novel HRAS c.466C>T p.(Phe156Leu) variant in two patients with attenuated features of Costello syndrome

Suzanna Lindsey-Temple, Matt Edwards, Verena Rickassel, Theresa Nauth, Georg Rosenberger

Eur J Hum Genet. 2022 Sep; 30(9): 1088–1093. Published online 2022 Jun 29. doi: 10.1038/s41431-022-01139-1

PMCID:: PMC9437031

Article PDF–1.1M

Select item 92218306.

Rapid Weight Loss and Severe Failure to Thrive Mimicking Lipodystrophy Syndrome in a 1-Year-Old Taiwanese Girl with Costello Syndrome

Yu-Min Syu, Hung-Chang Lee, Jui-Hsing Chang, Chung-Lin Lee, Chih-Kuang Chuang, Huei-Ching Chiu, Ya-Hui Chang, Hsiang-Yu Lin, Shuan-Pei Lin

Children (Basel) 2022 Jun; 9(6): 905. Published online 2022 Jun 16. doi: 10.3390/children9060905

PMCID:: PMC9221830

Article PDF–1.7M

Select item 91698407.

Multidisciplinary Management of Costello Syndrome: Current Perspectives

Chiara Leoni, Germana Viscogliosi, Marco Tartaglia, Yoko Aoki, Giuseppe Zampino

J Multidiscip Healthc. 2022; 15: 1277–1296. Published online 2022 Jun 2. doi: 10.2147/JMDH.S291757

PMCID:: PMC9169840

Article PDF–1.8M

Select item 91689758.

Surgical techniques for infectious endocarditis of the mitral valve with hypertrophic cardiomyopathy in Costello syndrome

Shinichi Ishida, Masato Mutsuga, Takashi Fujita, Kei Yagami

J Cardiol Cases. 2022 Jun; 25(6): 367–369. Published online 2022 Jan 14. doi: 10.1016/j.jccase.2021.12.010

PMCID:: PMC9168975

Article PDF–1.0M

Select item 90122939.

HRAS germline mutations impair LKB1/AMPK signaling and mitochondrial homeostasis in Costello syndrome models

Laetitia Dard, Christophe Hubert, Pauline Esteves, Wendy Blanchard, Ghina Bou About, Lyla Baldasseroni, Elodie Dumon, Chloe Angelini, Mégane Delourme, Véronique Guyonnet-Dupérat, Stéphane Claverol, Laura Fontenille, Karima Kissa, Pierre-Emmanuel Séguéla, Jean-Benoît Thambo, Lévy Nicolas, Yann Herault, Nadège Bellance, Nivea Dias Amoedo, Frédérique Magdinier, Tania Sorg, Didier Lacombe, Rodrigue Rossignol

J Clin Invest. 2022 Apr 15; 132(8): e131053. Published online 2022 Apr 15. doi: 10.1172/JCI131053

PMCID:: PMC9012293

Article PDF–14M

Select item 861731110.

MEK-inhibitor-mediated rescue of skeletal myopathy caused by activating Hras mutation in a Costello syndrome mouse model

William E. Tidyman, Alice F. Goodwin, Yoshiko Maeda, Ophir D. Klein, Katherine A. Rauen

Dis Model Mech. 2022 Feb 1; 15(2): dmm049166. Published online 2021 Nov 19. doi: 10.1242/dmm.049166

PMCID:: PMC8617311

Article

Select item 836502811.

Dysregulated ECM remodeling proteins lead to aberrant osteogenesis of Costello syndrome iPSCs

Jong Bin Choi, Joonsun Lee, Minyong Kang, Bumsoo Kim, Younghee Ju, Hyo-Sang Do, Han-Wook Yoo, Beom Hee Lee, Yong-Mahn Han

Stem Cell Reports. 2021 Aug 10; 16(8): 1985–1998. Published online 2021 Jul 8. doi: 10.1016/j.stemcr.2021.06.007

PMCID:: PMC8365028

Article PDF–2.1M

Select item 823801512.

Costello syndrome: Clinical phenotype, genotype, and management guidelines

Karen W. Gripp, Lindsey A. Morse, Marni Axelrad, Kathryn C. Chatfield, Aaron Chidekel, William Dobyns, Daniel Doyle, Bronwyn Kerr, Angela E. Lin, David D. Schwartz, Barbara J. Sibbles, Dawn Siegel, Suma P. Shankar, David A. Stevenson, Mihir M. Thacker, K. Nicole Weaver, Sue M. White, Katherine A. Rauen

Am J Med Genet A. Author manuscript; available in PMC 2021 Jun 28.

Published in final edited form as: Am J Med Genet A. 2019 Sep; 179(9): 1725–1744. Published online 2019 Jun 20. doi: 10.1002/ajmg.a.61270

PMCID:: PMC8238015

Article PDF–953K

Select item 822285713.

Costello syndrome with special cutaneous manifestations and HRAS G12D mutation: A case report and literature review

Wen Qian, Meijie Zhang, Hequn Huang, Yihe Chen, Gajin Park, Ni Zeng, Yueyue Li, Qian Lu, Dan Luo

Mol Genet Genomic Med. 2021 Jun; 9(6): e1690. Published online 2021 May 1. doi: 10.1002/mgg3.1690

PMCID:: PMC8222857

Article PDF–732K

Select item 808208214.

Anterior lenticular opacities in Costello Syndrome

Anchal Thakur, Vishal Thakur, Tripti Choudhary, Rahul Mahajan, Ashish Kulshrestha, Amit Gupta

Am J Ophthalmol Case Rep. 2021 Jun; 22: 101036. Published online 2021 Feb 28. doi: 10.1016/j.ajoc.2021.101036

PMCID:: PMC8082082

Article PDF–2.5M

Select item 782155315.

Musculo-skeletal phenotype of Costello syndrome and cardio-facio-cutaneous syndrome: insights on the functional assessment status

Chiara Leoni, Domenico Marco Romeo, Michele Pelliccioni, Mariangela Di Già, Roberta Onesimo, Valentina Giorgio, Elisabetta Flex, Marta Tedesco, Marco Tartaglia, Donato Rigante, Antonio Valassina, Giuseppe Zampino

Orphanet J Rare Dis. 2021; 16: 43. Published online 2021 Jan 22. doi: 10.1186/s13023-021-01674-y

PMCID:: PMC7821553

Article PDF–1.1M

Select item 767522516.

Hyperinsulinemic Hypoglycemia in a Patient with Costello Syndrome: An Etiology to Consider in Hypoglycemia

Dogus Vuralli, Can Kosukcu, Ekim Taskiran, Pelin Ozlem Simsek-Kiper, Gulen Eda Utine, Koray Boduroglu, Ayfer Alikasifoglu, Mehmet Alikasifoglu

Mol Syndromol. 2020 Nov; 11(4): 207–216. Published online 2020 Sep 16. doi: 10.1159/000510171

PMCID:: PMC7675225

Article PDF–200K

Select item 753452217.

Recombinant GH treatment in a case of Costello syndrome with a 5-year follow-up

Sirmen Kizilcan Cetin, Zeynep Siklar, Elif Ozsu, Zehra Aycan, Rukiye Uyanik, Meliha E. Bilici, Aysegul Ceran, Merih Berberoglu

Clin Pediatr Endocrinol. 2020; 29(4): 195–199. Published online 2020 Oct 3. doi: 10.1297/cpe.29.195

PMCID:: PMC7534522

Article PDF–955K

Select item 740809418.

Treatment of Dystonia Using Trihexyphenidyl in Costello Syndrome

Domenico M. Romeo, Alessandro Specchia, Alfonso Fasano, Chiara Leoni, Roberta Onesimo, Claudia Brogna, Stefania Veltri, Giuseppe Zampino

Brain Sci. 2020 Jul; 10(7): 450. Published online 2020 Jul 14. doi: 10.3390/brainsci10070450

PMCID:: PMC7408094

Article PDF–211K

Select item 680538719.

Precocious puberty and Chiari I malformation with syrinx: a case report of an unusual presentation of Costello syndrome

Naomi S. Schwartz, Molly O. Regelmann

Int J Pediatr Endocrinol. 2019; 2019: 2. Published online 2019 Oct 22. doi: 10.1186/s13633-019-0067-8

PMCID:: PMC6805387

Article PDF–885K

Select item 550984220.

Respiratory System Involvement in Costello Syndrome

Natalia Gomez-Ospina, Christin Kuo, Amitha Lakshmi Ananth, Angela Myers, Marie-Luise Brennan, David A Stevenson, Jonathan A Bernstein, Louanne Hudgins

Am J Med Genet A. Author manuscript; available in PMC 2017 Jul 14.

Published in final edited form as: Am J Med Genet A. 2016 Jul; 170(7): 1849–1857. Published online 2016 Apr 22. doi: 10.1002/ajmg.a.37655

PMCID:: PMC5509842

Article PDF–376K

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