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Items: 17

Select item 91277221.

Evaluation of dental maturity in Muenke syndrome, Saethre-Chotzen syndrome, and TCF12-related craniosynostosis

Tsun M Choi, Gem J C Kramer, Jacqueline A C Goos, Irene M J Mathijssen, Eppo B Wolvius, Edwin M Ongkosuwito

Eur J Orthod. 2022 Jun; 44(3): 287–293. Published online 2021 Aug 23. doi: 10.1093/ejo/cjab056

PMCID:: PMC9127722

Article PDF–596K

Select item 88982432.

Craniofacial morphology and growth in Muenke syndrome, Saethre-Chotzen syndrome, and TCF12-related craniosynostosis

T. M. Choi, O. W. Lijten, I. M. J. Mathijssen, E. B. Wolvius, E. M. Ongkosuwito

Clin Oral Investig. 2022; 26(3): 2927–2936. Published online 2021 Dec 14. doi: 10.1007/s00784-021-04275-y

PMCID:: PMC8898243

Article PDF–1.0M

Select item 85444703.

Quantitative Craniofacial Analysis and Generation of Human Induced Pluripotent Stem Cells for Muenke Syndrome: A Case Report

Fahad K. Kidwai, Byron W. H. Mui, Konstantinia Almpani, Priyam Jani, Cyrus Keyvanfar, Kulsum Iqbal, Sriram S. Paravastu, Deepika Arora, Pamela Orzechowski, Randall K. Merling, Barbara Mallon, Vamsee D. Myneni, Moaz Ahmad, Paul Kruszka, Maximilian Muenke, Jeremiah Woodcock, Jeffrey W. Gilman, Pamela G. Robey, Janice S. Lee

J Dev Biol. 2021 Dec; 9(4): 39. Published online 2021 Sep 22. doi: 10.3390/jdb9040039

PMCID:: PMC8544470

Article PDF–5.4M

Select item 84472204.

Lab Resource: Single Cell Line: Generation of human induced pluripotent stem cell line (NIDCRi001-A) from a Muenke syndrome patient with an FGFR3 p.Pro250Arg mutation

Byron W.H. Mui, Deepika Arora, Barbara S. Mallon, Ariel F. Martinez, Janice S. Lee, Fahad K. Kidwai, Pamela G. Robey

Stem Cell Res. Author manuscript; available in PMC 2021 Sep 17.

Published in final edited form as: Stem Cell Res. 2020 Jul; 46: 101823. Published online 2020 May 19. doi: 10.1016/j.scr.2020.101823

PMCID:: PMC8447220

Article PDF–480K

Select item 69590015.

Muenke syndrome: Medical and surgical comorbidities and long-term management

Chaya N. Murali, Donna M. McDonald-McGinn, Tara Lynn Wenger, Carey McDougall, Bridget M. Stroup, Sarah E. Sheppard, Jesse Taylor, Scott P. Bartlett, Elizabeth J. Bhoj, Elaine H. Zackai, Avni Santani

Am J Med Genet A. Author manuscript; available in PMC 2020 Jan 14.

Published in final edited form as: Am J Med Genet A. 2019 Aug; 179(8): 1442–1450. Published online 2019 May 20. doi: 10.1002/ajmg.a.61199

PMCID:: PMC6959001

Article PDF–418K

Select item 45166446.

Executive Function and Adaptive Behavior in Muenke Syndrome

Colin M.P. Yarnell, Yonit A. Addissie, Donald W. Hadley, Maria J. Guillen Sacoto, Nneamaka B. Agochukwu, Rachel A. Hart, Edythe A. Wiggs, Petra Platte, Yvonne Paelecke, Hartmut Collmann, Tilmann Schweitzer, Paul Kruszka, Maximilian Muenke

J Pediatr. Author manuscript; available in PMC 2016 Aug 1.

Published in final edited form as: J Pediatr. 2015 Aug; 167(2): 428–434. Published online 2015 May 28. doi: 10.1016/j.jpeds.2015.04.080

PMCID:: PMC4516644

Article PDF–594K

Select item 41337437.

Epilepsy in Muenke Syndrome: FGFR3-Related Craniosynostosis

Nneamaka B. Agochukwu, Benjamin D. Solomon, Andrea L. Gropman, Maximilian Muenke

Pediatr Neurol. Author manuscript; available in PMC 2014 Aug 15.

Published in final edited form as: Pediatr Neurol. 2012 Nov; 47(5): 355–361. doi: 10.1016/j.pediatrneurol.2012.07.004

PMCID:: PMC4133743

Article PDF–50K

Select item 38285188.

Genetic rescue of Muenke syndrome model hearing loss reveals prolonged FGF-dependent plasticity in cochlear supporting cell fates

Suzanne L. Mansour, Chaoying Li, Lisa D. Urness

Genes Dev. 2013 Nov 1; 27(21): 2320–2331. doi: 10.1101/gad.228957.113

PMCID:: PMC3828518

Article PDF–1.5M

Select item 35817209.

Talocalcaneal Coalition in Muenke Syndrome: Report of a patient, review of the literature in FGFR-related craniosynostoses, and consideration of mechanism

Nneamaka B. Agochukwu, Benjamin D. Solomon, Laurel J. Benson, Maximilian Muenke

Am J Med Genet A. Author manuscript; available in PMC 2014 Mar 1.

Published in final edited form as: Am J Med Genet A. 2013 Mar; 161(3): 453–460. Published online 2013 Feb 1. doi: 10.1002/ajmg.a.35233

PMCID:: PMC3581720

Article PDF–226K

Select item 338385010.

Muenke Syndrome Mutation, FgfR3^P244R, Causes TMJ Defects

T. Yasuda, H.D. Nah, J. Laurita, T. Kinumatsu, Y. Shibukawa, T. Shibutani, N. Minugh-Purvis, M. Pacifici, E. Koyama

J Dent Res. 2012 Jul; 91(7): 683–689. doi: 10.1177/0022034512449170

PMCID:: PMC3383850

Article PDF–7.3M

Select item 336157011.

The Palatal and Oral Manifestations of Muenke Syndrome (FGFR3 related craniosynostosis)

Nneamaka B. Agochukwu, Benjamin D. Solomon, Emily S. Doherty, Maximilian Muenke

J Craniofac Surg. Author manuscript; available in PMC 2013 May 1.

Published in final edited form as: J Craniofac Surg. 2012 May; 23(3): 664–668. doi: 10.1097/SCS.0b013e31824db8bb

PMCID:: PMC3361570

Article PDF–43K

Select item 289089012.

A Korean Family with the Muenke Syndrome

Jae Eun Yu, Dong Ha Park, Soo Han Yoon

J Korean Med Sci. 2010 Jul; 25(7): 1086–1089. Published online 2010 Jun 17. doi: 10.3346/jkms.2010.25.7.1086

PMCID:: PMC2890890

Article PDF–724K

Select item 413198213.

Phenotype profile of a genetic mouse model for Muenke syndrome

Hyun-Duck Nah, Eiki Koyama, Nneamaka B. Agochukwu, Scott P. Bartlett, Maximilian Muenke

Childs Nerv Syst. Author manuscript; available in PMC 2014 Aug 13.

Published in final edited form as: Childs Nerv Syst. 2012 Sep; 28(9): 1483–1493. Published online 2012 Aug 8. doi: 10.1007/s00381-012-1778-9

PMCID:: PMC4131982

Article PDF–3.3M

Select item 264464414.

Hearing loss in a mouse model of Muenke syndrome

Suzanne L. Mansour, Stephen R.F. Twigg, Rowena M. Freeland, Steven A. Wall, Chaoying Li, Andrew O.M. Wilkie

Hum Mol Genet. 2009 Jan 1; 18(1): 43–50. Published online 2008 Sep 25. doi: 10.1093/hmg/ddn311

PMCID:: PMC2644644

Article PDF–1.0M

Select item 413198115.

Hearing Loss in Syndromic Craniosynostoses: Introduction and Consideration of Mechanisms

Nneamaka B. Agochukwu, Benjamin D. Solomon, Maximilian Muenke

Am J Audiol. Author manuscript; available in PMC 2014 Aug 13.

Published in final edited form as: Am J Audiol. 2014 Jun; 23(2): 135–141. doi: 10.1044/2014_AJA-13-0036

PMCID:: PMC4131981

Article PDF–120K

Select item 299104216.

Scalp fibroblasts have a shared expression profile in monogenic craniosynostosis

Elena G Bochukova, Shamit Soneji, Steven A Wall, Andrew O M Wilkie

J Med Genet. 2010 Dec; 47(12): 803–808. Published online 2009 Sep 15. doi: 10.1136/jmg.2009.069617

PMCID:: PMC2991042

Article PDF–415K

Select item 282994717.

Brain Phenotypes in Two FGFR2 Mouse Models for Apert Syndrome

Kristina Aldridge, Cheryl A. Hill, Jordan R. Austin, Christopher Percival, Neus Martinez-Abadias, Thomas Neuberger, Yingli Wang, Ethylin Wang Jabs, Joan T. Richtsmeier

Dev Dyn. Author manuscript; available in PMC 2010 Mar 1.

Published in final edited form as: Dev Dyn. 2010 Mar; 239(3): 987–997. doi: 10.1002/dvdy.22218