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Select item 103384151.

Anesthetic management of a pediatric patient with Freeman-Sheldon syndrome undergoing atrial septal defect closure: a case report

Kyosuke Takahashi, Kotaro Sakurai, Izumi Hamaya

JA Clin Rep. 2023 Dec; 9: 40. Published online 2023 Jul 13. doi: 10.1186/s40981-023-00633-9

PMCID:: PMC10338415

Abstract Article PDF–920K

Select item 89303362.

Freeman-Sheldon Syndrome with Stiff Knee Gait – A Case Report

Sandeep Sehrawat, Sumit Sural, Pon Aravindhan A Sugumar, Shahrukh Khan, Santanu Kar, Madhan Jeyaraman

J Orthop Case Rep. 2021 Nov; 11(11): 64–68. Published online 2021 Nov. doi: 10.13107/jocr.2021.v11.i11.2518

PMCID:: PMC8930336

Abstract Article PDF–4.8M

Select item 87969583.

Emergent Cesarean Delivery in a Patient With Freeman-Sheldon Syndrome Complicated by Preeclampsia, Acute Pulmonary Embolism, and Pulmonary Edema: A Case Report

Mohamed Fayed, Mark A Giska, Rebekah C Shievitz, Ami Attali, Joshua Younger

Cureus. 2021 Dec; 13(12): e20802. Published online 2021 Dec 29. doi: 10.7759/cureus.20802

PMCID:: PMC8796958

Abstract Article PDF–536K

Select item 81905394.

Anesthetic management of a patient with Freeman‐Sheldon syndrome undergoing oral surgery: A case report

Aiji Sato (Boku), Yoshiki Sento, Tatsuya Hasegawa, Kosuke Tsutsumi, Yuji Kamimura, MinHye So, Eisuke Kako, Kazuya Sobue

Clin Case Rep. 2021 Jun; 9(6): e04358. Published online 2021 Jun 9. doi: 10.1002/ccr3.4358

PMCID:: PMC8190539

Abstract Article PDF–173K

Select item 80082705.

Prolonged myosin binding increases muscle stiffness in Drosophila models of Freeman-Sheldon syndrome

Kaylyn M. Bell, Alice Huang, William A. Kronert, Sanford I. Bernstein, Douglas M. Swank

Biophys J. 2021 Mar 2; 120(5): 844–854. Published online 2021 Jan 30. doi: 10.1016/j.bpj.2020.12.033

PMCID:: PMC8008270

Abstract Article PDF–1.3M

Select item 72141346.

Precise Pulmonary Function Evaluation and Management of a Patient With Freeman-Sheldon Syndrome Associated With Recurrent Pneumonia and Chronic Respiratory Insufficiency

Jihyun Park, Seong-Woong Kang, Won Ah Choi, Yewon Lee, Han Eol Cho

Ann Rehabil Med. 2020 Apr; 44(2): 165–170. Published online 2020 Apr 29. doi: 10.5535/arm.2020.44.2.165

PMCID:: PMC7214134

Abstract Article PDF–2.7M

Select item 58319737.

Anesthetic Considerations for an Adult Patient with Freeman-Sheldon Syndrome Undergoing Open Heart Surgery

S. Viehmeyer, P. Gabriel, K. Bauer, S. Bauer, R. Sodian, J. N. Hilberath

Case Rep Anesthesiol. 2018; 2018: 7862327. Published online 2018 Feb 13. doi: 10.1155/2018/7862327

PMCID:: PMC5831973

Abstract Article PDF–1.0M

Select item 54439938.

Freeman–Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa

A. M. Ali, R. M. Mbwasi, G. Kinabo, E.-J. Kamsteeg, B. C. Hamel, M. C. J. Dekker

Case Rep Genet. 2017; 2017: 9327169. Published online 2017 May 11. doi: 10.1155/2017/9327169

PMCID:: PMC5443993

Abstract Article PDF–1.3M

Select item 48589799.

The Most Prevalent Freeman-Sheldon Syndrome Mutations in the Embryonic Myosin Motor Share Functional Defects

Jonathan Walklate, Carlos Vera, Marieke J. Bloemink, Michael A. Geeves, Leslie Leinwand

J Biol Chem. 2016 May 6; 291(19): 10318–10331. Published online 2016 Mar 4. doi: 10.1074/jbc.M115.707489

PMCID:: PMC4858979

Abstract Article PDF–3.4M

Select item 462020710.

Freeman-Sheldon syndrome in a 29-year-old woman presenting with rare and previously undescribed features

Robert L Chamberlain, Mikaela I Poling, Augusto L Portillo, Andrés Morales, Rigoberto RT Ramirez, Rodger J McCormick

BMJ Case Rep. 2015; 2015: bcr2015212607. Published online 2015 Oct 22. doi: 10.1136/bcr-2015-212607

PMCID:: PMC4620207

Abstract Article PDF–5.6M

Select item 451357711.

Preliminary experience with delayed non-operative therapy of multiple hand and wrist contractures in a woman with Freeman-Sheldon syndrome, at ages 24 and 28 years

Rodger J McCormick, Mikaela I Poling, Augusto L Portillo, Robert L Chamberlain

BMJ Case Rep. 2015; 2015: bcr2015210935. Published online 2015 Jul 14. doi: 10.1136/bcr-2015-210935

PMCID:: PMC4513577

Abstract Article PDF–714K

Select item 451351012.

Bilateral patellar tendon-bearing Symes-type prostheses in a severe case of Freeman-Sheldon syndrome in a 21-year-old woman presenting with uncorrectable equinovarus

Rodger J McCormick, Mikaela I Poling, Robert L Chamberlain

BMJ Case Rep. 2015; 2015: bcr2015211338. Published online 2015 Jul 15. doi: 10.1136/bcr-2015-211338

PMCID:: PMC4513510

Abstract Article PDF–41M

Select item 448158013.

The embryonic myosin R672C mutation that underlies Freeman-Sheldon syndrome impairs cross-bridge detachment and cycling in adult skeletal muscle

Alice W. Racca, Anita E. Beck, Margaret J. McMillin, F. Steven Korte, Michael J. Bamshad, Michael Regnier

Hum Mol Genet. 2015 Jun 15; 24(12): 3348–3358. Published online 2015 Mar 3. doi: 10.1093/hmg/ddv084

PMCID:: PMC4481580

Abstract Article PDF–509K

Select item 384702214.

Freeman-Sheldon Syndrome Presenting with Microstomia: A Case Report and Literature Review

Vivek Gurjar, Anita Parushetti, Minal Gurjar

J Maxillofac Oral Surg. 2013 Dec; 12(4): 395–399. Published online 2012 May 17. doi: 10.1007/s12663-012-0392-4

PMCID:: PMC3847022

Abstract Article PDF–271K

Select item 383041115.

Improving oral function and cosmesis in a case of Freeman-Sheldon syndrome

Vishal Vyas, Riaz Agha, Tariq Ahmad

BMJ Case Rep. 2013; 2013: bcr2013009191. Published online 2013 Nov 13. doi: 10.1136/bcr-2013-009191

PMCID:: PMC3830411

Abstract Article PDF–452K

Select item 327949016.

Severe Skew Foot Deformity in a Patient With Freeman-Sheldon Syndrome

Ali Al Kaissi, Klaus Klaushofer, Franz Grill

J Clin Med Res. 2011 Oct; 3(5): 265–267. Published online 2011 Sep 26. doi: 10.4021/jocmr653e

PMCID:: PMC3279490

Abstract Article PDF–403K

Select item 255303017.

Freeman-Sheldon Syndrome with Unusual Hand and Foot Anomalies

Raul Estrada, Warren Rosenfeld, J. Delfor Salazar, Ramesh Jhaveri

J Natl Med Assoc. 1981 Jul; 73(7): 664–667.

PMCID:: PMC2553030

Summary Page Browse PDF–1.2M

Select item 171240318.

A variant of Freeman-Sheldon syndrome maps to 11p15.5-pter.

P A Krakowiak, J R O'Quinn, J F Bohnsack, W S Watkins, J C Carey, L B Jorde, M Bamshad

Am J Hum Genet. 1997 Feb; 60(2): 426–432.

PMCID:: PMC1712403

Summary Page Browse PDF–1.7M

Select item 104963319.

Freeman-Sheldon syndrome: a disorder of congenital myopathic origin?

J Vanĕk, J Janda, V Amblerová, F Losan

J Med Genet. 1986 Jun; 23(3): 231–236. doi: 10.1136/jmg.23.3.231

PMCID:: PMC1049633

Summary Page Browse PDF–1.8M

Select item 104931820.

Genetic heterogeneity in the Freeman-Sheldon syndrome: two adults with probable autosomal recessive inheritance

J S Fitzsimmons, V Zaldua, A R Chrispin

J Med Genet. 1984 Oct; 21(5): 364–368. doi: 10.1136/jmg.21.5.364

PMCID:: PMC1049318

Summary Page Browse PDF–1.1M

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