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Items: 1 to 20 of 96

1.

Squamosal suture craniosynostosis in Muenke syndrome.

Doumit GD, Sidaoui J, Meisler E, Papay FA.

J Craniofac Surg. 2014 Mar;25(2):429-31. doi: 10.1097/SCS.0000000000000394.

PMID:
24448525
2.

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

Mansour SL, Li C, Urness LD.

Genes Dev. 2013 Nov 1;27(21):2320-31. doi: 10.1101/gad.228957.113. Epub 2013 Oct 21.

3.

Talocalcaneal coalition in Muenke syndrome: report of a patient, review of the literature in FGFR-related craniosynostoses, and consideration of mechanism.

Agochukwu NB, Solomon BD, Benson LJ, Muenke M.

Am J Med Genet A. 2013 Mar;161A(3):453-60. doi: 10.1002/ajmg.a.35233. Epub 2013 Feb 1. Review.

4.

Epilepsy in Muenke syndrome: FGFR3-related craniosynostosis.

Agochukwu NB, Solomon BD, Gropman AL, Muenke M.

Pediatr Neurol. 2012 Nov;47(5):355-61. doi: 10.1016/j.pediatrneurol.2012.07.004. Review.

5.

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

Agochukwu NB, Solomon BD, Muenke M.

Childs Nerv Syst. 2012 Sep;28(9):1447-63. doi: 10.1007/s00381-012-1756-2. Epub 2012 Aug 8. Review.

6.

Muenke syndrome associated with multiple osteochondromas.

Talbot SG, Upton J, Rogers GF.

J Craniofac Surg. 2012 Mar;23(2):e115-7. doi: 10.1097/SCS.0b013e31824cd9f6.

PMID:
22446440
7.

Health-related problems and quality of life in patients with syndromic and complex craniosynostosis.

de Jong T, Maliepaard M, Bannink N, Raat H, Mathijssen IM.

Childs Nerv Syst. 2012 Jun;28(6):879-82. doi: 10.1007/s00381-012-1681-4. Epub 2012 Jan 11.

8.

Prenatal diagnosis of craniosynostosis: sonographic features of Muenke syndrome.

Shaw A, Petersen OB, Chitty LS.

J Obstet Gynaecol. 2011 Nov;31(8):770-1. doi: 10.3109/01443615.2011.615956. No abstract available.

PMID:
22085076
9.

Audiological profile of children and young adults with syndromic and complex craniosynostosis.

de Jong T, Toll MS, de Gier HH, Mathijssen IM.

Arch Otolaryngol Head Neck Surg. 2011 Aug;137(8):775-8. doi: 10.1001/archoto.2011.115.

PMID:
21844411
10.

Craniofacial growth in patients with FGFR3Pro250Arg mutation after fronto-orbital advancement in infancy.

Ridgway EB, Wu JK, Sullivan SR, Vasudavan S, Padwa BL, Rogers GF, Mulliken JB.

J Craniofac Surg. 2011 Mar;22(2):455-61. doi: 10.1097/SCS.0b013e3182077d93.

PMID:
21403567
11.

Additional phenotypic features of Muenke syndrome in 2 Dutch families.

de Jong T, Mathijssen IM, Hoogeboom AJ.

J Craniofac Surg. 2011 Mar;22(2):571-5. doi: 10.1097/SCS.0b013e318207b761.

PMID:
21403557
12.

Obstructive sleep apnea-specific quality of life and behavioral problems in children with syndromic craniosynostosis.

Bannink N, Maliepaard M, Raat H, Joosten KF, Mathijssen IM.

J Dev Behav Pediatr. 2011 Apr;32(3):233-8. doi: 10.1097/DBP.0b013e318206d5e3.

PMID:
21297497
13.

Craniosynostosis: prenatal diagnosis by means of ultrasound and SSSE-MRI. Family series with report of neurodevelopmental outcome and review of the literature.

Tonni G, Panteghini M, Rossi A, Baldi M, Magnani C, Ferrari B, Lituania M.

Arch Gynecol Obstet. 2011 Apr;283(4):909-16. doi: 10.1007/s00404-010-1643-6. Epub 2010 Sep 2. Review.

PMID:
20811900
14.

A child with an FGFR3 mutation, a laterality disorder and an hepatoblastoma: novel associations and possible gene-environment interactions.

Baynam GS, Goldblatt J.

Twin Res Hum Genet. 2010 Aug;13(4):297-300. doi: 10.1375/twin.13.4.297.

PMID:
20707699
15.

Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.

Wilkie AO, Byren JC, Hurst JA, Jayamohan J, Johnson D, Knight SJ, Lester T, Richards PG, Twigg SR, Wall SA.

Pediatrics. 2010 Aug;126(2):e391-400. doi: 10.1542/peds.2009-3491. Epub 2010 Jul 19.

16.

A Korean family with the Muenke syndrome.

Yu JE, Park DH, Yoon SH.

J Korean Med Sci. 2010 Jul;25(7):1086-9. doi: 10.3346/jkms.2010.25.7.1086. Epub 2010 Jun 17.

17.

Long-term functional outcome in 167 patients with syndromic craniosynostosis; defining a syndrome-specific risk profile.

de Jong T, Bannink N, Bredero-Boelhouwer HH, van Veelen ML, Bartels MC, Hoeve LJ, Hoogeboom AJ, Wolvius EB, Lequin MH, van der Meulen JJ, van Adrichem LN, Vaandrager JM, Ongkosuwito EM, Joosten KF, Mathijssen IM.

J Plast Reconstr Aesthet Surg. 2010 Oct;63(10):1635-41. doi: 10.1016/j.bjps.2009.10.029. Epub 2009 Nov 12.

PMID:
19913472
18.

New insight on FGFR3-related chondrodysplasias molecular physiopathology revealed by human chondrocyte gene expression profiling.

Schibler L, Gibbs L, Benoist-Lasselin C, Decraene C, Martinovic J, Loget P, Delezoide AL, Gonzales M, Munnich A, Jais JP, Legeai-Mallet L.

PLoS One. 2009 Oct 29;4(10):e7633. doi: 10.1371/journal.pone.0007633.

19.

Scalp fibroblasts have a shared expression profile in monogenic craniosynostosis.

Bochukova EG, Soneji S, Wall SA, Wilkie AO.

J Med Genet. 2010 Dec;47(12):803-8. doi: 10.1136/jmg.2009.069617. Epub 2009 Sep 15.

20.

Intellectual outcomes following protocol management in Crouzon, Pfeiffer, and Muenke syndromes.

Flapper WJ, Anderson PJ, Roberts RM, David DJ.

J Craniofac Surg. 2009 Jul;20(4):1252-5. doi: 10.1097/SCS.0b013e3181acdf9a.

PMID:
19625842
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