Molecular genetic testing of patients with craniosynostosis

Monographs in Human Genetics

Volumn 19, Issue , 2011, Pages 177-183

  Hehr, U ^a,b  

^a UNIVERSITY OF REGENSBURG   (Germany)

^b UNIVERSITY HOSPITAL REGENSBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84866056479     PISSN: 00770876     EISSN: 16623835     Source Type: Book Series    
DOI: 10.1159/000318428     Document Type: Article

References (10)

1. Morriss-Kay GM, Wilkie AO: Growth of the normal skull vault and its alteration in craniosynostosis: insights from human genetics and experimental studies. J Anat 2005;207:637-653. (Pubitemid 41723374)
2. Wilkie AO, Bochukova EG, Hansen RM, Taylor IB, Rannan-Eliya SV, et al: Clinical dividends from the molecular genetic diagnosis of craniosynostosis. Am J Med Genet A 2007;143 A: 1941-1949.
3. Jehee FS, Krepischi-Santos AC, Rocha KM, Cavalcanti DP, Kim CA, et al: High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligationdependent probe amplification and array-based comparative genome hybridisation. J Med Genet 2008;45:447-450. (Pubitemid 351977135)
4. Woods RH, Ul-Haq E, Wilkie AO, Jayamohan J, Richards PG, et al: Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review. Plast Reconstr Surg 2009;123:1801-1810.
5. Bochukova EG, Roscioli T, Hedges DJ, Taylor IB, Johnson D, et al: Rare mutations of FGFR2 causing Apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily. Hum Mutat 2009;30:204-211.
6. McGillivray G, Savarirayan R, Cox TC, Stojkoski C, McNeil R, et al: Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain. J Med Genet 2005;42:656-662. (Pubitemid 41129038)
7. Jenkins D, Seelow D, Jehee FS, Perlyn CA, Alonso LG, et al: RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity. Am J Hum Genet 2007;80:1162-1170. (Pubitemid 47579351)
8. Kaname T, Yanagi K, Chinen Y, Makita Y, Okamoto N, et al: Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome. Am J Hum Genet 2007;81:835-841. (Pubitemid 47596551)
9. Harper PS: Practical Genetic Counselling, 6th ed. Oxford, Oxford University Press, 2004.
10. Karadimas C, Trouvas D, Haritatos G, Makatsoris C, Dedoulis E, et al: Prenatal diagnosis of achondroplasia presenting with multiple-suture synostosis: a novel association. Prenat Diagn 2006;26:258-261.