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Items: 19

Select item 85109531.

Posterior vault distraction technique: how I do it

Niina Salokorpi, Leonid Satanin, Ivan Teterin, Juha-Jaakko Sinikumpu, Willy Serlo

Childs Nerv Syst. 2021; 37(10): 3127–3136. Published online 2021 May 25. doi: 10.1007/s00381-021-05203-x

PMCID:: PMC8510953

Abstract Article PDF–6.4M

Select item 65655792.

Expanding the phenotype for the recurrent p.Ala391Glu variant in FGFR3: Beyond crouzon syndrome and acanthosis nigricans

Karen Rymer, Rita Shiang, Anting Hsiung, Arti Pandya, Tim Bigdeli, Bradley T. Webb, Jennifer Rhodes

Mol Genet Genomic Med. 2019 Jun; 7(6): e656. Published online 2019 Apr 23. doi: 10.1002/mgg3.656

PMCID:: PMC6565579

Abstract Article PDF–569K

Select item 47319253.

Timing, rates and spectra of human germline mutation

Raheleh Rahbari, Arthur Wuster, Sarah J. Lindsay, Robert J. Hardwick, Ludmil B. Alexandrov, Saeed Al Turki, Anna Dominiczak, Andrew Morris, David Porteous, Blair Smith, Michael R. Stratton, UK10K Consortium, Matthew E. Hurles

Nat Genet. Author manuscript; available in PMC 2016 Jun 14.

Published in final edited form as: Nat Genet. 2016 Feb; 48(2): 126–133. Published online 2015 Dec 14. doi: 10.1038/ng.3469

PMCID:: PMC4731925

Abstract Article PDF–1.6M

Select item 45166444.

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

Abstract Article PDF–594K

Select item 41319815.

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

Abstract Article PDF–120K

Select item 41011896.

Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses

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

Childs Nerv Syst. Author manuscript; available in PMC 2014 Jul 17.

Published in final edited form as: Childs Nerv Syst. 2012 Sep; 28(9): 1447–1463. Published online 2012 Aug 8. doi: 10.1007/s00381-012-1756-2

PMCID:: PMC4101189

Abstract Article PDF–748K

Select item 38285187.

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

Abstract Article PDF–1.5M

Select item 35817208.

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

Abstract Article PDF–226K

Select item 35357619.

Prevalence and complications of single gene and chromosomal disorders in craniosynostosis

Andrew O.M. Wilkie, Jo C. Byren, Jane A. Hurst, Jayaratnam Jayamohan, David Johnson, Samantha J. L. Knight, Tracy Lester, Peter G. Richards, Stephen R. F. Twigg, Steven A. Wall

Pediatrics. Author manuscript; available in PMC 2013 Jan 3.

Published in final edited form as: Pediatrics. 2010 Aug; 126(2): e391–e400. Published online 2010 Jul 19. doi: 10.1542/peds.2009-3491

PMCID:: PMC3535761

Abstract Article PDF–554K

Select item 289089010.

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

Abstract Article PDF–724K

Select item 264464411.

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

Abstract Article PDF–1.0M

Select item 244921912.

Familial craniosynostosis due to Pro250Arg mutation in the fibroblast growth factor receptor 3 gene.

J. Hughes, N. C. Nevin, P. J. Morrison

Ulster Med J. 2001 May; 70(1): 47–50.

PMCID:: PMC2449219

Summary Page Browse PDF–681K

Select item 180153213.

Analysis of phenotypic features and FGFR2 mutations in Apert syndrome.

W J Park, C Theda, N E Maestri, G A Meyers, J S Fryburg, C Dufresne, M M Cohen, Jr, E W Jabs

Am J Hum Genet. 1995 Aug; 57(2): 321–328.

PMCID:: PMC1801532

Summary Page Browse PDF–1.8M

Select item 176295814.

E. Lajeunie, V. El Ghouzzi, M. Le Merrer, A. Munnich, J. Bonaventure, D. Renier

J Med Genet. 1999 Jan; 36(1): 9–13.

PMCID:: PMC1762958

Summary PDF–155K

Select item 173499515.

Heterozygous P250L mutation of fibroblast growth factor receptor 3 in a case of isolated craniosynostosis

S Schindler, M Friedrich, H Wagener, B Lorenz, M Preising

J Med Genet. 2002 Oct; 39(10): 764–766. doi: 10.1136/jmg.39.10.764

PMCID:: PMC1734995

Summary PDF–145K

Select item 171251816.

A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome

M. Muenke, K. W. Gripp, D. M. McDonald-McGinn, K. Gaudenz, L. A. Whitaker, S. P. Bartlett, R. I. Markowitz, N. H. Robin, N. Nwokoro, J. J. Mulvihill, H. W. Losken, J. B. Mulliken, A. E. Guttmacher, R. S. Wilroy, L. A. Clarke, G. Hollway, L. C. Adès, E. A. Haan, J. C. Mulley, M. M. Cohen, G. A. Bellus, C. A. Francomano, D. M. Moloney, S. A. Wall, A. O. M. Wilkie, E. H. Zackai

Am J Hum Genet. 1997 Mar; 60(3): 555–564.