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Literature: Books & Jounral Articles

 

Books

Cremers, W.R.J & Smith, R.J.H (2002).  Genetic hearing impairment: It's clinical presentations (Advances in oto-rhino-laryngology).  New York, NY: S.Karger AG. (ISBN# 3085574495)

Jones, K.L. &  Smith, D.W. (2006).  Smith's recognizable patterns of human malformation.  Philadelphia, PA: Elsevier, Inc.(ISBN# 0721661157)

Kahn, A. (2007). Waardenburg Syndrome. San Diego, CA: Plural Publishing, Inc. (ISBN# 1597560219)

Toriello, H.V., Reardon, W. & Gorlin, R.J. (2004).  Hereditary hearing loss and its syndromes (Oxford monographs on medical genetics).  New York, NY: Oxford University Press, Inc.(ISBN# 019513849X)

Wiedemann, H.R. & Kunze, J. (1997). Clinical syndromes (3rd ed.).  Italy: Mosby-Wolfe.(ISBN# 0723429502)

Willems, P.J. (2004).  Genetic hearing loss. New York, NY: Marcel Dekker, Inc. (ISBN# 0824743091)

 

Journal Articles

Arias, S., & Mota, M. (1978). Apparent non-penetrance for dystopia in Waardenburg’s syndrome type 1, with some hints on the diagnosis of dystopia canthorum. J. Genet. Hum., 26, 103-131.

Baar-Hamilton, R., Matheson, L., & Keay, D. (1991). Ototoxicity of cis-platinum and its relationship to eye colour.The Journal of Laryntology and Otology, 105, 7-11.

Baldwin, C., Hoth, C., Macina, R., & Milunsky, A. (1995). Mutation in PAX3 that causes Waardenburg’s syndrome type I: Ten new mutations and review of the literature. American Journal of Medical Genetics, 58: 115-122.

Bandyopadhyay, S., Prasad, S., & Singhania, P. (1999). Partial anodontia in a case of Waardenburg’s syndrome. The Journal of Laryngology and Otology, 113: 672-674.

Black, F., Pesznecker, S., Allen, K., & Gianna, C. (2001). A vestibular phenotype for Waardenburg syndrome. Otology & Neurotology, 22: 188-194.

Cagatay, O., Baserer, N., & Tinaz, N. (2000). Audiometric manifestations of Waardenburg’s syndrome. Ear, Nose & Throat Journal.

Da-Silva, E., Batista, J., Medeiros, M., & Fonteless, S. (1993). Craniofacial anthropometric studies in Waardenburg’s syndrome type I. Clinical Genetics, 44: 20-25.

Dennis, L., Lanza, J., & Har-el, G. (1996). Waardenburg Syndrome. Otoltolaryngol Head Neck Surgery, 114: 166-167.

Dourmishev, A., Schwartz, R., & Janniger, C. (1999). Waardenburg Syndrome. International Journal of Dermatology, 38: 656-663.

Fisch, L. (1959). Deafness as part of an hereditary syndrome. The Journal of Laryntology and Otology, 355-382.

Graned, G., Collet, L., & Morgon, A. (1995). Physiopathological investigations in a family with a history of Unilateral hereditary deafness. Acta Otolaryngology (Stockh), 115: 196-201.

Gupta, V., Harisch M., & Aggarwal, C. (2000). Open angle Glaucoma as a manifestation of Waardenburg’s syndrome. Indian J Opthalmol, 48: 49-50.

Kadoi, C., Hayasaka, S., & Yamamoto, S. (1996). Branch retinal vein occlusion in a patient with Waardenburg Syndrome. Ophthalmologica, 210: 354-357.

Keefe, M. (1999). A typical presentation of Waardenburg’s syndrome. Otolaryngol Head Neck Surgery, 120: 749.

Keats, J. (2002). Genes and syndromic hearing loss. Journal Of Communication, 35: 355-366.

Klein, D. (1983). Historical background and evidence for dominant inheritance of the Klein-Warrensburg syndrome(type III). American Journal of Medical Genetics, 14: 231-239.

Knox, G., Mcpherson, A., & Lopes, A. (1999). A clinical presentation of Waardenburg’s syndrome type II.

Lee, D., Lanza, J., & Har-el, G. (1996). Waardenburg Syndrome. Otolaryngol Head Neck Surgery, 114: 166-167.

Liu, X., Newton, E., & Read, A. (1995). Hearing loss and pigmentary disturbances in Waardenburg syndrome with reference to WS Type II. The Journal of Laryntology and Otology, 109: 96-100.

Liu, X., Newton, E., & Read, A. (1995). Waardenburg’s syndrome type II: Phenotype findings and diagnostic criteria. American Journal of Medical Genetics, 55: 95-100.

Liu, X. & Newton, E. (1997). Distortion product emissions in normal-hearing and low-frequency hearing loss carriers of genes for Waardenburg’s syndrome. Ann Otol Rhinol Larygology, 106: 220-225.


Mckenna, M., Milunsky, A., Baldwin, C., & Nadol, J. (2001). Otopathology in a case of type 1 Waardenburg’s syndrome. Ann Otol Rhinol Otolaryngology, 110.

Mishriki, Y. (2000). Facial clues to an inherited syndrome. Postgraduate Medicine, 106.

Morell, R., Friedman.,T., Asher, J., & Robbins, L. (1996). The incidence of deafness is non-randomly distributed among families segregating Waardenburg syndrome type 1 (WS1).

Nakashima, S., Sando, I., Takahashi, H., & Hashida, Y. (1992). Temporal bone histopathology findings of Waardenburg’s syndrome: A case report. Laryngoscope, 102: 563-567.

Newton, V. (1990). Hearing loss and Waardenburg’s syndrome: implications for genetic counseling. The Journal of Laryntology and Otology, 104, 97-103.

Ortonne, J. (1988). Piebaldism, Waardenburg’s syndrome, and related disorders. Dermatologic Clinics, 6, 205-216.

Oysu, C., Baserer, N., & Tinaz, M. (2000). Audiometric manifestations of Waardenburg’s syndrome. Ear, Nose, & Throat Journal, 704-709.

Read, A. & Newton, V. (1997). Waardenburg syndrome. Journal of Medical Genetics, 34: 656-665.

Read, A. (2000). Waardenburg syndrome. Genetics in Otorhinolaryngology Adv Otorhinolaryngol, 56: 32-38.

Read, A. (2000). Hereditay deafness: lessons for developmental studies and genetic diagnosis. Eur J Pediatr, 159: 232-235.

Reed, W., Stone, V., Boder, E., & Ziprowski, L. (1967). Pigmentary disorders in association with congenital deafness. Arch Derm, 95, 176-178.

Reynolds, J., et al. (1995). Analysis of variability of clinical manifestations in Waardenburg syndrome. American Journal of Medical Genetics, 57: 540-547.

Rosenberg, T., et al. (1987). Chroidereima, congenital deafness and mental retardation in a family with an X chromosomal deletion. Ophthalmic Paediatrics and Genetics, 8: 139-143.

Sayh, B., Akarsu, A., & Altan, S. (1995). Anophthalmos-Syndactyly(Waardenburg) syndrome without oligodactyly of toes. American Journal of Medical Genetics, 58: 18-20.

Sener, R. (1998). Cranial MR imaging findings in Waardenburg syndrome: exophthalmia, and hypothalamic hamartoma. Computerized Medical Imaging and Graphics, 22: 409-411.

Sheffer, R. & Zlotogora, J. (1992). Autosomal dominant inheritance of Klein Waardenburg’s syndrome. American Journal of Medical Genetics, 42: 320-322.

Shim, W., Dereig, M., Powell, B., & Hsia, E. (1999). Near total intestinal aganglionosis in the Waardenburg-Shah syndrome. J Pediatric Surgery, 34: 1853-1855.

Smith, S., Kolodziej, P., & Olney, A. (1998). Waardenburg Syndrome. Ear, Nose& Throat Journal, 77:257-258.

Sotirova, V., et al. (1999). Identification of a novel mutation in the paired domain of PAX3 in an Iranian family with Waardenburg’s Sydrome type 1. Opthalmic Genetics, 21:25-28.

Strain, M. et al.(1992). Brainstem auditory-evoked potential assessment of congenital deafness in Dalmatians: Associations with phenotypic markers. Journal of Veterinary Internal Medicine, 6: 175-182.

Suyugul, Z., et al. (1996). Anophtalamia-Waardenburg Syndrome: A report of three cases. American Journal of Medical Genetics, 62: 391-397.

Valenzuela, G., et al. (1995). Waardenburg syndrome and Gastric Stasis in adults.

Yoder, B. & Preyson, R. (2002). Shah-Waardenburg syhndome and dandy-walker formation: an autopsy report. Clinical Neuropathology, 21: 236-240.

 

 

 
 

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