Slia-Nasser L, de Aquino SN, Paranaba
LMR, Gomes A, dos-Santos-Neto P, Coletta
RD, Cardoso AF, Frota AC, Martelli-Jnior
H. Waardenburg syndrome type I: Dental phenotypes and genetic
analysis of an extended family. Med Oral Patol Oral Cir Bucal. 2016 May 1;21
(3):e321-7.
doi:10.4317/medoral.20789
http://dx.doi.org/doi:10.4317/medoral.20789
|
1. Pingault V, Ente D, Dastot-Le Moal F, Goossens M, Marlin S, Bondurand N. Review and update of mutations causing Waardenburgsyndrome. Hum Mutat. 2010;31:1-16. |
|
|
|
|
|
2. Read AP, Newton VE. Waardenburg
syndrome. J Med Genet. 1997;34:656-65. |
|
|
|
|
|
3. Waardenburg PJ. A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with
pigmentary defects of the iris and head hair and with congenital deafness. Am J Hum Genet. 1951;3:195-253. |
|
|
|
|
|
4. Otman SG, Abdelhamid NI. Waardenburg syndrome type 2 in an African patient. Indian J Dermatol Venereol Leprol. 2005;71:426-7. |
|
|
|
|
|
5. Morin M, Vinuela A, Rivera T, Villamar M, Moreno-Pelayo MA, Moreno F, et al. A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish
sporadic case of Waardenburg
syndrome type IV. Am J Med Genet. 2008;146:1032-7. |
|
|
|
|
|
6. Inoue K, Khajavi M, Ohyama T, Hirabayashi S, Wilson
J, Reggin JD, et al. Molecular mechanism
for distinct neurological phenotypes conveyed by allelic
truncating mutations. Nat Genet. 2004;36:361-9. |
|
|
|
|
|
7. Wu M, Li J, Engleka KA, Zhou B, Lu MM, Plotkin JB, et
al. Persistent expression
of Pax3 in the neural crest
causes cleft palate and defective osteogenesis in mice. J Clin Invest. 2008;118:2076-87. |
|
|
|
|
|
8. Chen H, Jiang L, Xie Z, Mei L, He C, Hu Z, et al. Novel mutations of
PAX3, MITF, and SOX10 genes in Chinese patients with type I or type
II Waardenburg syndrome. Biochem Biophys Res Commun. 2010;397:70-4. |
|
|
|
|
|
9. Silan F, Demirci L, Egeli A, Egeli E, Onder HI, Ozturk O, et al. Syndromic etiology in children at schools for the deaf
in Turkey. Int J Pediatr Otorhinolaryngol.
2004;68:1399-406. |
|
|
|
|
|
10. Fisch L. Deafness as part of a hereditary syndrome. J Laryngol Otol. 1959;73:355-82. |
|
|
|
|
|
11. Bandyopadhyay S, Prasad S, Singhania PK. Partial anodontia in a case of Waardenburg's
syndrome. J Laryngol Otol. 1999;113:672-4. |
|
|
|
|
|
12. Sommer A, Bartholomew DW. Craniofacial-deafness-hand syndrome
revisited. Am J Med Genet A. 2003;123:91-4. |
|
|
|
|
|
13.
Salvatore S, Carnevale C, Infussi
R, Arrico L, Mafrici M, Plateroti AM, et al. [Waardenburg
Syndrome: a review of literature and case reports]. Clin Ter. 2012;163:e85-94. |
|
|
|
|
|
14. Aidar M, Line SR. A simple and cost-effective
protocol for DNA isolation from buccal epithelial cells. Braz Dent
J. 2007;18:148-52. |
|
|
|
|
|
15. Pandya A, Xia X, Landa B. Phenotypic variation in Waardenburg syndrome: mutational heterogeneity, modifier genes or polygenic background?. Hum Mol Genet. 1996;5:497-502. |
|
|
|
|
|
16.
Newton VE. Clinical features
of the Waardenburg syndromes. Adv Otorhinolaryngol. 2002;61:201-8. |
|
|
|
|
|
17.
Wang J, Li S, Xiao X, Wang P, Guo
X, Zhang Q. PAX3 mutations and clinical
characteristics in Chinese
patients with Waardenburg syndrome type 1. Mol Vis. 2010;16:1146-53. |
|
|
|
|
|
18.
Arias S, Mota M. Apparent non-penetrance
for dystopia in Waardenburg syndrome type I, with some hints on
the diagnosis of dystopia
canthorum. J Genet Hum. 1978;26:103-31. |
|
|
|
|
|
19. Tay CH. Waardenburg's syndrome and familial periodic paralysis. Postgrad Med J. 1971;47:354-60. |
|
|
|
|
|
20. Asher JH Jr, Friedman TB. Mouse
and hamster mutants as models for Waardenburg
syndromes in humans. J Med Genet. 1990;27:618-26. |
|
|
|
|
|
21. Bondurand N, Dastot-Le Moal F, Stanchina L, Collot N, Baral V, Marlin S. Deletions at the SOX10 gene locus cause Waardenburg
syndrome types 2 and 4.
Am J Hum Genet.
2007;81:1169-85. |
|
|
|
|
|
22. Dourmishev AL, Dourmishev LA,
Schwartz RA, Janniger CK. Waardenburg
syndrome with facial palsy and lingua plicata: is that
a new type of disease.
Cutis. 1999;63:139-41. |
|
|
|
|
|
23. Vastardis H. The genetics of human tooth agenesis: new discoveries for understanding dental anomalies. Am J Orthod Dentofacial Orthop.
2000;117:650-6. |
|
|
|
|
|
24. Sarns KV, Rune B. The facial profile in advanced hypodontia: a mixed longitudinal study of 141
children. Eur J Orthod. 1983;5:133-43. |
|
|
|
|
|
25. Larmour CJ, Mossey PA, Thind BS, Forgie AH, Stirrups DR. Hypodontia-a retrospective review of prevalence and etiology. Part I. Quintessence Int. 2005;36:263-70. |
|
|
|
|
|
26. Dechkunakorn S, Chaiwat J, Sawaengkit P. Congenital absence and loss of teeth in an orthodontic
patient group. J Dent Assoc Thai.
1990;40:165-76. |
|
|
|
|
|
27. Jorgenson RJ. Clinician's view of hypodontia. J Am Dent Assoc. 1980;101:283-6. |
|
|
|
|
|
28.
Li X, Venugopalan SR, Cao H, Pinho
FO, Paine ML, Snead ML,
et al. A model of molecular underpinnings
of tooth defects in Axenfel-Rieger syndrome. Hum Mol Genet. 2014;23:194-208. |
|
|
|
|
|
29. Bckman B, Wahlin YB. Variations in number and morphology of permanent teeth in 7-year-old Swedish children. Int J Paediatr Dent. 2001;11:11-7. |
|
|
|
|
|
30. Alvesalo L, Portin P. The inheritance of missing, peg-shaped and strongly mesiodistally reduced upper lateral incisors. Acta Odontol Scand. 1969;27:563-75. |
|
|
|
|