Results 91 to 100 of about 7,052 (205)

Trastornos oculares y otras enfermedades en casos con síndrome de Waardenburg Ocular disorders and other diseases in patients suffering from Waardenburg’s syndrome

Revista de Ciencias Médicas de Pinar del Río, 2012
Introducción: el síndrome de Waardenburg es una entidad infrecuente, hereditaria, que presenta heterocromía del iris, Distopia cantorum y cursa con cierto grado de discapacidad cuando aparece la hipoacusia neurosensorial entre otras alteraciones ...
Fidel Castro Pérez, José Guillermo Sanabria Negrín, Julián Santana Oruña, Rolando Jesús Iviricu Tielves, Deyaniris Gelis Pérez   +4 more
doaj  

Choroidal thickness in Waardenburg syndrome

GMS Ophthalmology Cases, 2019
Purpose: To assess the choroidal thickness in differently pigmented areas of the fundus in a 46-year-old female with Waardenburg syndrome. Methods: Retrospective, case review.
Rishi, Pukhraj, Multani, Priyansha, Prasan, Vishnu Vahan, Rishi, Ekta, Attiku, Yamini   +4 more
doaj   +1 more source

The Waardenburg syndrome.

South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, 1998
Click on the link to view.
Scott, FP, van Beukering, JA
openaire   +2 more sources

SLUG in cancer development [PDF]

, 2005
The SNAIL-related zinc-finger transcription factor, SLUG (SNAI2), is critical for the normal development of neural crest-derived cells and loss-of-function SLUG mutations have been proven to contribute to piebaldism and Waardenburg syndrome type 2 in a ...
Flores, Teresa, González-Herrero, Inés, Gutiérrez-Adán, Alfonso, Gutiérrez-Cianca, N., Pintado, Belén, Pérez-Caro, M., Pérez-Mancera, P. A., Sánchez García, Isidro, Sánchez-Martín, M.   +8 more
core   +2 more sources

Waardenburg Syndrome

Ear, Nose & Throat Journal, 1998
S, Smith, P, Kolodziej, A H, Olney
  +6 more sources

Waardinburg syndrome — inherited deafness with pigmentary involvement

Curationis, 1979
The Waardenburg syndrome was first clearly defined in 1951. The major clinical importance lies in the fact that about 20% of affected individuals are deaf.
M.F. Macrae
doaj   +1 more source

[Waardenburg's syndrome]. [PDF]

Ceskoslovenska otolaryngologie, 1980
S B, Yalaburgi, P K, Mistry
  +8 more sources

Blue Eyed Boy

Online Journal of Health & Allied Sciences, 2015
We report a case of blue eyes of Waardenburg Syndrome, with findings of hypopigmentation on the posterior ...
Kamath MM, D Souza S, Sharma T
doaj  

Genetic disorders in the Indian community of South Africa [PDF]

, 2016
OBJECTIVES: To determine the range of genetic disorders in the Indian population of South Africa, assess relevant historical and demographic factors, and discuss the implications for medical and genetic care.
Beighton, P, Winship, W S
core  

Asymmetric severity of diabetic retinopathy in Waardenburg syndrome

Clinical Ophthalmology, 2011
Tomoyuki Kashima, Hideo Akiyama, Shoji KishiDepartment of Ophthalmology, Gunma University School of Medicine, Gunma 371-8511, JapanAbstract: A 30-year-old female patient was referred to our institution due to vitreous hemorrhage.
Kashima T, Akiyama H, Kishi S
doaj