Search Results - "OYSTRECK, D. T"

Clinical characterization of the HOXA1 syndrome BSAS variant by BOSLEY, T. M, SALIH, M. A, ALORAINY, I. A, OYSTRECK, D. T, NESTER, M, ABU-AMERO, K. K, TISCHFIELD, M. A, ENGLE, E. C

“…The Bosley-Salih-Alorainy syndrome (BSAS) variant of the congenital human HOXA1 syndrome results from autosomal recessive truncating HOXA1 mutations. We…”
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Orbitofacial neurofibromatosis: clinical characteristics and treatment outcome by Chaudhry, I A, Morales, J, Shamsi, F A, Al-Rashed, W, Elzaridi, E, Arat, Y O, Jacquemin, C, Oystreck, D T, Bosley, T M

“…Purpose To report clinical observations and surgical management in a large series of patients with orbitofacial neurofibromatosis type 1 (OFNF). Patients and…”
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Diplopia following cataract surgery: a review of 150 patients by Nayak, H, Kersey, J P, Oystreck, D T, Cline, R A, Lyons, C J

“…Aim To study the motility pattern, underlying mechanism, and management of patients who complained of double vision after cataract surgery. Methods A…”
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Recent Progress in Understanding Congenital Cranial Dysinnervation Disorders by Oystreck, Darren T, Engle, Elizabeth C, Bosley, Thomas M

“…BACKGROUND:In 2002, the new term congenital cranial dysinnervation disorder (CCDD) was proposed as a substitute for the traditional concept of congenital…”
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The neurology of carbonic anhydrase type II deficiency syndrome by Bosley, Thomas M., Salih, Mustafa A., Alorainy, Ibrahim A., Islam, M. Zahidul, Oystreck, Darren T., Suliman, Omer S. M., Malki, Salem al, Suhaibani, Adel H., Khiari, Hattan, Beckers, Sigri, van Wesenbeeck, Liesbeth, Perdu, Bram, AlDrees, Abdulmajeed, Elmalik, Salah A., Van Hul, Wim, Abu-Amero, Khaled K.

“…Carbonic anhydrase type II deficiency syndrome is an uncommon autosomal recessive disease with cardinal features including osteopetrosis, renal tubular…”
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Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development by Engle, Elizabeth C, Tischfield, Max A, Bosley, Thomas M, Salih, Mustafa A M, Alorainy, Ibrahim A, Sener, Emin C, Nester, Michael J, Oystreck, Darren T, Chan, Wai-Man, Andrews, Caroline, Erickson, Robert P

“…We identified homozygous truncating mutations in HOXA1 in three genetically isolated human populations. The resulting phenotype includes horizontal gaze…”
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Congenital Myasthenic Syndrome Due to Homozygous CHRNE Mutations: Report of Patients in Arabia by Salih, Mustafa A, Oystreck, Darren T, Al-Faky, Yasser H, Kabiraj, Mohammed, Omer, Mohamed I A, Subahi, Elamin M, Beeson, David, Abu-Amero, Khaled K, Bosley, Thomas M

“…We describe the clinical characteristics of 3 siblings from 1 family with congenital myasthenic syndrome due to homozygous mutations of the gene coding for the…”
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Presbyopia complicating pre-existing strabismus by Oystreck, Darren T., OC(C), Lyons, Christopher J., MB, FRCSC

“…Abstract Background: Presbyopia may affect pre-existing sensory adaptations or aggravate previously asymptomatic heterophoria. We describe the presentation,…”
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