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Defective myosin VIIA gene responsible for Usher syndrome type IB

• Dominique Well, Stéphane Blanchard, +16 authors Christine Petit
• Nature
• 1995

USHER syndrome represents the association of a hearing impairment with retinitis pigmentosa1 and is the most frequent cause of deaf–blindness in humans. It is inherited as an autosomal recessive… (More)

Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I.

• Lisa M. Astuto, Michael D. Weston, +15 authors William J. Kimberling
• American journal of human genetics
• 2000

Usher syndrome type I is an autosomal recessive disorder marked by hearing loss, vestibular areflexia, and retinitis pigmentosa. Six Usher I genetic subtypes at loci USH1A-USH1F have been reported.… (More)

Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients.

• Michael D. Weston, Philip M. Kelley, +12 authors William J. Kimberling
• American journal of human genetics
• 1996

Usher syndrome type 1b (USH1B) is an autosomal recessive disorder characterized by congenital profound hearing loss, vestibular abnormalities, and retinitis pigmentosa. The disorder has recently been… (More)

Long-term effects of carotid sinus denervation on arterial blood pressure in humans.

• Adrianus A. J. Smit, Henri J. L. M. Timmers, +5 authors John M. Karemaker
• Circulation
• 2002

BACKGROUND After experimental carotid sinus denervation in animals, blood pressure (BP) level and variability increase markedly but normalize to preoperative levels within 10 to 14 days. We… (More)

Variable clinical features in patients with CDH23 mutations (USH1D-DFNB12).

• Ronald J. E. Pennings, Vedat V. Topsakal, +7 authors Cor W. R. J. Cremers
• Otology & neurotology : official publication of…
• 2004

OBJECTIVE To describe the findings of audiovestibular and ophthalmologic examinations in four families with mutations in the CDH23 gene. STUDY DESIGN Family study. SETTING Tertiary referral… (More)

Daily pain assessment: value for nurses and patients.

• M E de Rond, Rianne de Wit, +6 authors B T van Campen
• Journal of advanced nursing
• 1999

Current guidelines for pain management recommend systematic assessment of pain. A few standardized tools exist for the daily assessment of pain intensity, for example the numeric rating scale or… (More)

Assessing quality of life in Australian patients with Graves' ophthalmopathy.

• Joseph J Park, Timothy John Sullivan, Robin H. Mortimer, Mariette Wagenaar, Donald A. Perry-Keene
• The British journal of ophthalmology
• 2004

AIMS To determine quality of life and adequacy of education and counselling in Australian patients with Graves' ophthalmopathy during the course of their illness. METHODS A cross sectional study… (More)

Pure tone hearing thresholds and speech recognition scores in Dutch patients carrying mutations in the USH2A gene.

• Ronald J. E. Pennings, Patrick L. M. Huygen, +4 authors Cor W. R. J. Cremers
• Otology & neurotology : official publication of…
• 2003

OBJECTIVE To establish the audiometric profile and speech recognition characteristics in 36 Usher IIa patients, carrying one (A) or two (B) pathogenic mutations in the gene. STUDY DESIGN Family… (More)

Hearing impairment in Usher's syndrome.

• Ronald J. E. Pennings, Mariette Wagenaar, Annelies van Aarem, Patrick L. M. Huygen, William J. Kimberling, Cor W. R. J. Cremers
• Advances in oto-rhino-laryngology
• 2002

Widespread presence of cytomegalovirus DNA in tissues of healthy trauma victims.

• Ron M. G. Hendrix, Mariette Wagenaar, Rob L. Slobbe, Catherine A Bruggeman
• Journal of clinical pathology
• 1997

AIMS To determine the localisation of human cytomegalovirus (CMV) DNA in abdominal aorta, spleen, and transplantable organs, such as kidney, pancreas, and liver, obtained from healthy individuals; to… (More)

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