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Select item 104425101.

Myhre syndrome is caused by dominant-negative dysregulation of SMAD4 and other co-factors

Dimuthu Alankarage, Annabelle Enriquez, Robert D Steine, Cathy Raggio, Megan Higgins, Di Milnes, David T Humphreys, Emma L Duncan, Duncan B Sparrow, Philip F Giampietro, Gavin Chapman, Sally L Dunwoodie

Differentiation. Author manuscript; available in PMC 2023 Aug 22.

Published in final edited form as: Differentiation. 2022 Nov-Dec; 128: 1–12. Published online 2022 Sep 24. doi: 10.1016/j.diff.2022.09.002

PMCID:: PMC10442510

Abstract Article PDF–1.6M

Select item 100909712.

A Second Family with Myhre Syndrome Caused by the Same Recurrent SMAD4 Pathogenic Variation (p.Arg496Cys)

Şenol Demir, Ceren Alavanda, Gözde Yeşil, Ayça Dilruba Aslanger, Esra Arslan Ateş

Mol Syndromol. 2023 Apr; 14(2): 175–180. Published online 2023 Jan 13. doi: 10.1159/000527149

PMCID:: PMC10090971

Abstract Article PDF–411K

Select item 100099133.

A newborn male with Myhre syndrome, hearing loss, and complete syndactyly of fingers 3–4

Kun Yang, Xi Wang, Wei‐Qian Wang, Ming‐Yu Han, Li‐Min Hu, Dong‐Yang Kang, Jin‐Yuan Yang, Min Liu, Xue Gao, Yong‐Yi Yuan, Jin‐Cao Xu

Mol Genet Genomic Med. 2023 Mar; 11(3): e2103. Published online 2022 Nov 14. doi: 10.1002/mgg3.2103

PMCID:: PMC10009913

Abstract Article PDF–1.6M

Select item 93386574.

Natural history of Myhre syndrome

David Dawei Yang, Marlene Rio, Caroline Michot, Nathalie Boddaert, Wael Yacoub, Nicolas Garcelon, Briac Thierry, Damien Bonnet, Sophie Rondeau, Dominique Herve, Stephanie Guey, Francois Angoulvant, Valerie Cormier-Daire

Orphanet J Rare Dis. 2022; 17: 304. Published online 2022 Jul 30. doi: 10.1186/s13023-022-02447-x

PMCID:: PMC9338657

Abstract Article PDF–1.3M

Select item 89728425.

First documented case of Myhre syndrome in Romania: A case report

Andreea Cătană, Ruxandra Simonescu-Colan, Zina Cuzmici-Barabaș, Diana Militaru, Irina Iordănescu, Mariela Sanda Militaru

Exp Ther Med. 2022 May; 23(5): 323. Published online 2022 Mar 10. doi: 10.3892/etm.2022.11252

PMCID:: PMC8972842

Abstract Article PDF–731K

Select item 85976096.

Myhre Syndrome Misdiagnosed as Marfan Syndrome: an Educational Presentation

Jinrong Li, Tao Zhu, Sufei Yang, Fan Yang, Jinhui Wu, Fei Xiong

Braz J Cardiovasc Surg. 2021 Sep-Oct; 36(5): 700–702. doi: 10.21470/1678-9741-2020-0592

PMCID:: PMC8597609

Abstract Article PDF–356K

Select item 85050367.

Myhre syndrome: the first case in Korea

Dongjin Lim, Jae Hyun Kim, Jieun Lee

Ann Pediatr Endocrinol Metab. 2021 Sep; 26(3): 210–214. Published online 2021 May 12. doi: 10.6065/apem.2040214.107

PMCID:: PMC8505036

Abstract Article PDF–834K

Select item 83883038.

Benefit of cochlear implantation in a patient with Myhre syndrome

Tiziana Di Cesare, Giorgia Rossi, Giorgia Girotto, Walter Di Nardo

BMJ Case Rep. 2021; 14(8): e243164. Published online 2021 Aug 25. doi: 10.1136/bcr-2021-243164

PMCID:: PMC8388303

Abstract Article PDF–1.0M

Select item 83605019.

Case Report: Improved Height in a Patient With Myhre Syndrome Using a Combination of Growth Hormone and Letrozole

Hui Wu, Xinli Wang, Yunpu Cui, Xuemei Wang

Front Pediatr. 2021; 9: 675934. Published online 2021 Jul 29. doi: 10.3389/fped.2021.675934

PMCID:: PMC8360501

Abstract Article PDF–724K

Select item 832972710.

Multilevel Airway Stenosis Being Bypassed by a Customized Tracheostomy Tube in an Infant with Myhre Syndrome

Min Jin Jeon, Min Jung Kim, Ji Hye Kim, Ji Soo Park, Jisook Yim, Myungshin Kim, Seong Keun Kwon, Soyoung Lee, Jung Min Ko, Jong-Hee Chae, Dong In Suh

Pediatr Allergy Immunol Pulmonol. June 2021; 34(2): 83–87. Published online 2021 Jun 16. doi: 10.1089/ped.2021.0029

PMCID:: PMC8329727

Abstract Article PDF–366K

Select item 819023011.

SMAD4 mutations and cross-talk between TGF-β/IFNγ signaling accelerate rates of DNA damage and cellular senescence, resulting in a segmental progeroid syndrome—the Myhre syndrome

Renuka Kandhaya-Pillai, Deyin Hou, Jiaming Zhang, Xiaomeng Yang, Goli Compoginis, Takayasu Mori, Tamara Tchkonia, George M. Martin, Fuki M. Hisama, James L. Kirkland, Junko Oshima

GeroScience. 2021 Jun; 43(3): 1481–1496. Published online 2021 Jan 5. doi: 10.1007/s11357-020-00318-6

PMCID:: PMC8190230

Abstract Article PDF–3.0M

Select item 789834412.

A pilot clinical trial with losartan in Myhre syndrome

Gerarda Cappuccio, Martina Caiazza, Alessandro Roca, Daniela Melis, Antonella Iuliano, Gabor Matyas, Marta Rubino, Giuseppe Limongelli, Nicola Brunetti‐Pierri

Am J Med Genet A. 2021 Mar; 185(3): 702–709. Published online 2020 Dec 24. doi: 10.1002/ajmg.a.62019

PMCID:: PMC7898344

Abstract Article PDF–1.8M

Select item 748885713.

A case of Myhre syndrome mimicking juvenile scleroderma

Barbara Jensen, Rebecca James, Ying Hong, Ebun Omoyinmi, Clarissa Pilkington, Neil J. Sebire, Kevin J. Howell, Paul A. Brogan, Despina Eleftheriou

Pediatr Rheumatol Online J. 2020; 18: 72. Published online 2020 Sep 11. doi: 10.1186/s12969-020-00466-1

PMCID:: PMC7488857

Abstract Article PDF–844K

Select item 705723014.

Myhre Syndrome Associated With Dunbar Syndrome and Urinary Tract Abnormalities: A Case Report

Zofia Varenyiova, Gabriela Hrckova, Denisa Ilencikova, Ludmila Podracka

Front Pediatr. 2020; 8: 72. Published online 2020 Feb 27. doi: 10.3389/fped.2020.00072

PMCID:: PMC7057230

Abstract Article PDF–595K

Select item 699596615.

Novel Ocular and Inner Ear Anomalies in a Patient with Myhre Syndrome

Semra Gürsoy, Filiz Hazan, Tülay Öztürk, Halil Ateş

Mol Syndromol. 2020 Jan; 10(6): 339–343. Published online 2019 Dec 20. doi: 10.1159/000504829

PMCID:: PMC6995966

Abstract Article PDF–557K

Select item 581486716.

A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot

Marianna Alagia, Gerarda Cappuccio, Michele Pinelli, Annalaura Torella, Raffaella Brunetti‐Pierri, Francesca Simonelli, Giuseppe Limongelli, Guido Oppido, Vincenzo Nigro, Nicola Brunetti‐Pierri, TUDP

Am J Med Genet A. 2018 Feb; 176(2): 426–430. Published online 2017 Dec 12. doi: 10.1002/ajmg.a.38560

PMCID:: PMC5814867

Abstract Article PDF–346K

Select item 398490117.

SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan

Pasquale Piccolo, Pratibha Mithbaokar, Valeria Sabatino, John Tolmie, Daniela Melis, Maria Cristina Schiaffino, Mirella Filocamo, Generoso Andria, Nicola Brunetti-Pierri

Eur J Hum Genet. 2014 Aug; 22(8): 988–994. Published online 2014 Jan 8. doi: 10.1038/ejhg.2013.283

PMCID:: PMC3984901

Abstract Article PDF–4.2M

Select item 325774918.

A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome

Viviana Caputo, Luciano Cianetti, Marcello Niceta, Claudio Carta, Andrea Ciolfi, Gianfranco Bocchinfuso, Eugenio Carrani, Maria Lisa Dentici, Elisa Biamino, Elga Belligni, Livia Garavelli, Loredana Boccone, Daniela Melis, Generoso Andria, Bruce D. Gelb, Lorenzo Stella, Margherita Silengo, Bruno Dallapiccola, Marco Tartaglia

Am J Hum Genet. 2012 Jan 13; 90(1): 161–169. doi: 10.1016/j.ajhg.2011.12.011

PMCID:: PMC3257749

Abstract Article PDF–617K

Select item 420042319.

Myhre and LAPS syndromes: clinical and molecular review of 32 patients

Caroline Michot, Carine Le Goff, Clémentine Mahaut, Alexandra Afenjar, Alice S Brooks, Philippe M Campeau, Anne Destree, Maja Di Rocco, Dian Donnai, Raoul Hennekam, Delphine Heron, Sébastien Jacquemont, Peter Kannu, Angela E Lin, Sylvie Manouvrier-Hanu, Sahar Mansour, Sandrine Marlin, Ruth McGowan, Helen Murphy, Annick Raas-Rothschild, Marlène Rio, Marleen Simon, Irene Stolte-Dijkstra, James R Stone, Yves Sznajer, John Tolmie, Renaud Touraine, Jenneke van den Ende, Nathalie Van der Aa, Ton van Essen, Alain Verloes, Arnold Munnich, Valérie Cormier-Daire

Eur J Hum Genet. 2014 Nov; 22(11): 1272–1277. Published online 2014 Jan 15. doi: 10.1038/ejhg.2013.288