U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from MedGen

Items: 1 to 20 of 22

1.
Syndromic Craniosynostosis: A Comprehensive Review
Kyriaki Katouni, Aggelos Nikolaou, Theodoros Mariolis, Vasileios Protogerou, Dimosthenis Chrysikos, Sophia Theofilopoulou, Dimitrios Filippou
Cureus. 2023 Dec; 15(12): e50448. Published online 2023 Dec 13. doi: 10.7759/cureus.50448
PMCID:
PMC10785997
ArticlePDF–290K
2.
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
ArticlePDF–596K
3.
Growth charts in FGFR2- and FGFR3-related faciocraniosynostoses
Caroline Ea, Quentin Hennocq, Arnaud Picard, Michel Polak, Corinne Collet, Laurence Legeai-Mallet, Éric Arnaud, Giovanna Paternoster, Roman Hossein Khonsari
Bone Rep. 2022 Jun; 16: 101524. Published online 2022 Mar 26. doi: 10.1016/j.bonr.2022.101524
PMCID:
PMC8965158
ArticlePDF–6.3M
4.
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
ArticlePDF–1.0M
5.
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
ArticlePDF–5.4M
6.
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
ArticlePDF–480K
7.
Deviating dental arch morphology in mild coronal craniosynostosis syndromes
T. M. Choi, L. Kragt, J. A. C. Goos, I. M. J. Mathijssen, E. B. Wolvius, E. M. Ongkosuwito
Clin Oral Investig. 2019; 23(7): 2995–3003. Published online 2018 Nov 3. doi: 10.1007/s00784-018-2710-9
PMCID:
PMC7398388
ArticlePDF–614K
8.
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
ArticlePDF–418K
9.
Genetic Syndromes Associated with Craniosynostosis
Jung Min Ko
J Korean Neurosurg Soc. 2016 May; 59(3): 187–191. Published online 2016 May 10. doi: 10.3340/jkns.2016.59.3.187
PMCID:
PMC4877538
ArticlePDF–1.2M
10.
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
ArticlePDF–594K
11.
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
ArticlePDF–50K
12.
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
ArticlePDF–3.3M
13.
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
ArticlePDF–120K
14.
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
ArticlePDF–1.5M
15.
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
ArticlePDF–226K
16.
Muenke Syndrome Mutation, FgfR3P244R, 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
ArticlePDF–7.3M
17.
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
ArticlePDF–43K
18.
Health-related problems and quality of life in patients with syndromic and complex craniosynostosis
Tim de Jong, Marianne Maliepaard, Natalja Bannink, Hein Raat, Irene M. J. Mathijssen
Childs Nerv Syst. 2012; 28(6): 879–882. Published online 2012 Jan 11. doi: 10.1007/s00381-012-1681-4
PMCID:
PMC3360850
ArticlePDF–111K
19.
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
ArticlePDF–415K
20.
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
ArticlePDF–724K

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center