Zobrazeno 1 - 10
of 99
pro vyhledávání: '"A, van Aarem"'
Autor:
August F. Deutman, Annelies Van Aarem, Cor W. R. J. Cremers, M. Wagenaar, Dana J. Orten, William J. Kimberling, Ronald J.E. Pennings, Hannie Kremer, Patrick L. M. Huygen
Publikováno v:
Acta Ophthalmologica Scandinavica. 82:131-139
PURPOSE: To evaluate visual impairment in Usher syndrome 1b (USH1b) and Usher syndrome 2a (USH2a). METHODS: We carried out a retrospective study of 19 USH1b patients and 40 USH2a patients. Cross-sectional regression analyses of the functional acuity
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f1bef723d57e9eeb4d38d1743e0f573c
https://doi.org/10.1111/j.1600-0420.2004.00234.x
https://doi.org/10.1111/j.1600-0420.2004.00234.x
Publikováno v:
International Journal of Pediatric Otorhinolaryngology Extra. 2:225-227
Summary Cervical chondrocutaneous branchial remnants are rare and unusual choristomas (dysgenetic tumor, originating from dislocated tissue). To get proper understanding of the etiology and consequently histology, knowledge of early embryologic proce
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8bcc772eb5c5a4ed3b6241c29546aa31
https://doi.org/10.1016/j.pedex.2007.06.006
https://doi.org/10.1016/j.pedex.2007.06.006
Publikováno v:
International Journal of Pediatric Otorhinolaryngology, 43, 61
International Journal of Pediatric Otorhinolaryngology, 43, pp. 61
International Journal of Pediatric Otorhinolaryngology, 43, pp. 61
A rare case of recurrent mastoiditis is described with abscess formation caused by a nontuberculous mycobacterium (NTM) Mycobacterium chelonae abscessus. The exceptionally slow wound healing after repeated surgical debridement was striking. A literat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::595c6ee6e6a3441100f23183b3458975
https://doi.org/10.1016/s0165-5876(97)00146-8
https://doi.org/10.1016/s0165-5876(97)00146-8
Publikováno v:
Journal of Medical Genetics. 33:753-757
The Usher syndromes are a group of autosomal recessive disorders characterised by retinitis pigmentosa (RP) with congenital, stable (non-progressive) sensorineural hearing loss. Profound deafness, RP, and no vestibular responses are features of Usher
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e7b03031081f5a3738bc39628ff8e4d
https://doi.org/10.1136/jmg.33.9.753
https://doi.org/10.1136/jmg.33.9.753
Autor:
Patrick L. M. Huygen, Cor W. R. J. Cremers, Alfred J. L. G. Pinckers, A. van Aarem, William J. Kimberling, G.C.J. Hombergen
Publikováno v:
International Journal of Pediatric Otorhinolaryngology, 31, 159-174
International Journal of Pediatric Otorhinolaryngology, 31, pp. 159-174
International Journal of Pediatric Otorhinolaryngology, 31, pp. 159-174
Ten obligate carriers of Usher syndrome type 2A from 5 different families with 2 affected persons all underwent audiologic, vestibular and ophthalmologic examinations. They had a sensorineural hearing loss which was in excess of that expected for the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81b2019a7e1d5a7d59c2432cc93a14a7
https://hdl.handle.net/2066/21260
https://hdl.handle.net/2066/21260
Autor:
William J. Kimberling, Patrick L. M. Huygen, R.J.C. Admiraal, Cor W. R. J. Cremers, A. van Aarem, M. Wagenaar, E.M. Bleeker-Wagemakers, Alfred J. L. G. Pinckers, B. ter Rahe
Publikováno v:
American Journal of Medical Genetics, 59, 3, pp. 375-379
American Journal of Medical Genetics, 59, pp. 375-379
American Journal of Medical Genetics, 59, 375-379
American Journal of Medical Genetics, 59, pp. 375-379
American Journal of Medical Genetics, 59, 375-379
Seventeen obligate carriers from nine families with autosomal recessive Usher syndrome type I underwent otological, audiological, vestibular, and ophthalmological examination in order to identify possible manifestations of heterozygosity. Linkage stu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::faea39226e404e43f9c0d74eef9a02b0
https://hdl.handle.net/2066/21703
https://hdl.handle.net/2066/21703
Publikováno v:
Clinical Otolaryngology. 19:185-189
A group of 266 children (515 ears), ranging in age from 5 months to 11 years, was studied. These children were candidates for the insertion of ventilation tubes, or adenoidectomy and/or tonsillectomy with myringotomy. Before surgery, tympanometry was
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58fb3dc55289288515700c6b948efd94
https://doi.org/10.1111/j.1365-2273.1994.tb01211.x
https://doi.org/10.1111/j.1365-2273.1994.tb01211.x
Publikováno v:
Ophthalmic Genetics. 15:25-30
Electrooculographic studies were performed in 77 carriers of tapetoretinal dystrophies: Usher syndrome (20), retinitis pigmentosa (32), neuronal ceroid lipofuscinosis (6), Senior syndrome (2), and choroideremia (17). The carriers were matched for sex
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b789dfbc9cdb771e2036c0ba6f2f6453
https://doi.org/10.3109/13816819409056907
https://doi.org/10.3109/13816819409056907
Publikováno v:
International Ophthalmology. 17:143-146
In retinitis pigmentosa patients the effect of cystoid macular edema on colour vision was studied. The occurrence of cystoid macular edema decreases with increasing colour vision defect. The mutual proportion of the main types of colour vision defect
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4b94b52131247563c47712d83a37069
https://doi.org/10.1007/bf00942928
https://doi.org/10.1007/bf00942928
Publikováno v:
International Journal of Pediatric Otorhinolaryngology. 22:81-84
In 26 children, aged between 3 and 7 years, the course of therapy-resistant chronic maxillary sinusitis over a mean period of 6 years and 3 months, was analysed. The results showed that spontaneous cure had occurred in 24 of the 26 children, on avera
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7d305c168567acb021897e18795656d
https://doi.org/10.1016/0165-5876(91)90099-w
https://doi.org/10.1016/0165-5876(91)90099-w