Thomas Bosley

Professor

1978 …2019
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Research Output 1978 2019

2019

Decreased ACKR3 (CXCR7) function causes oculomotor synkinesis in mice and humans

Whitman, M. C., Miyake, N., Nguyen, E. H., Bell, J. L., Matos Ruiz, P. M., Chan, W. M., Di Gioia, S. A., Mukherjee, N., Barry, B. J., Bosley, T., Khan, A. O. & Engle, E. C., Sep 15 2019, In : Human molecular genetics. 28, 18, p. 3113-3125 13 p.

Research output: Contribution to journalArticle

Synkinesis
Oculomotor Nerve
Abducens Nerve
Chemokine Receptors
Eyelids
2018

NEW OBSERVATIONS REGARDING THE RETINOPATHY OF GENETICALLY CONFIRMED KEARNS-SAYRE SYNDROME

Kozak, I., Oystreck, D. T., Abu-Amero, K. K., Nowilaty, S. R., Alkhalidi, H., Elkhamary, S. M., Mohamed, S., Hamad, M. H. A., Salih, M. A., Blakely, E. L., Taylor, R. W. & Bosley, T., Sep 1 2018, In : Retinal cases & brief reports. 12, 4, p. 349-358 10 p.

Research output: Contribution to journalArticle

Kearns-Sayre Syndrome
Mitochondrial DNA
Retinitis Pigmentosa
Chronic Progressive External Ophthalmoplegia
Retinal Perforations
2017

Biallelic mutations in human DCC cause developmental split-brain syndrome

Jamuar, S. S., Schmitz-Abe, K., D'Gama, A. M., Drottar, M., Chan, W. M., Peeva, M., Servattalab, S., Lam, A. T. N., Delgado, M. R., Clegg, N. J., Zayed, Z. A., Dogar, M. A., Alorainy, I. A., Jamea, A. A., Abu-Amero, K., Griebel, M., Ward, W., Lein, E. S., Markianos, K., Barkovich, A. J. & 6 others, Robson, C. D., Grant, P. E., Bosley, T., Engle, E. C., Walsh, C. A. & Yu, T. W., Mar 30 2017, In : Nature Genetics. 49, 4, p. 606-612 7 p.

Research output: Contribution to journalArticle

Split-Brain Procedure
Colorectal Neoplasms
Mutation
Central Nervous System
Diffusion Tensor Imaging

Clinicopathological features of peripheral nerve sheath tumors involving the eye and ocular adnexa

Zhang, M. L., Suarez, M. J., Bosley, T. & Rodriguez, F. J., May 1 2017, In : Human Pathology. 63, p. 70-78 9 p.

Research output: Contribution to journalArticle

Nerve Sheath Neoplasms
Neurofibroma
Neurilemmoma
Mechanoreceptors
Neurofibromatosis 1

Relative Frequencies of Arteritic and Nonarteritic Anterior Ischemic Optic Neuropathy in an Arab Population

Gruener, A. M., Chang, J. R., Bosley, T., Al-Sadah, Z. M., Kum, C. & McCulley, T. J., Jan 17 2017, (Accepted/In press) In : Journal of Neuro-Ophthalmology.

Research output: Contribution to journalArticle

Ischemic Optic Neuropathy
Population
Giant Cell Arteritis
Saudi Arabia
Medical Records
2016

Central Retinal Vein Occlusion in a Childhood Optic Nerve Tumour

Kozak, I., Elkhamary, S. M. & Bosley, T., Jan 2 2016, In : Neuro-Ophthalmology. 40, 1, p. 42-48 7 p.

Research output: Contribution to journalArticle

Retinal Vein
Retinal Vein Occlusion
Optic Nerve
Arteriovenous Anastomosis
Pediatrics

Chromosome 6 microdeletion in a patient with syndromic congenital cranial dysinnervation disorder

Abu-Amero, K. K., Kondkar, A. A., Hellani, A. M., Bosley, T. & Khan, A. O., Jan 1 2016, In : Neurosciences. 21, 1, p. 72-74 3 p.

Research output: Contribution to journalComment/debate

Cullin Proteins
Blepharoptosis
Multiple Abnormalities
Polydactyly
Esotropia

Coats-like retinopathy in Joubert syndrome

Abouammoh, M. A., Al-Shibani, S. K., Alhawwas, A. & Bosley, T., Aug 1 2016, In : Journal of AAPOS. 20, 4, p. 372-374 3 p.

Research output: Contribution to journalArticle

Telangiectasis
Cryotherapy
Retinitis Pigmentosa
Light Coagulation
Reflex

Duane retraction syndrome associated with a Small X chromosome deletion

Abu-Amero, K. K., Kondkar, A. A., Odan, H. A., Khan, A. O., Oystreck, D. T. & Bosley, T., May 1 2016, In : Canadian Journal of Neurological Sciences. 43, 3, p. 445-447 3 p.

Research output: Contribution to journalLetter

Duane retraction syndrome in a patient with Duchenne muscular dystrophy

Bosley, T., Salih, M. A., Alkhalidi, H., Oystreck, D. T., El Khashab, H. Y., Kondkar, A. A. & Abu-Amero, K. K., Jul 2 2016, In : Ophthalmic Genetics. 37, 3, p. 276-280 5 p.

Research output: Contribution to journalArticle

Duane Retraction Syndrome
Dystrophin
Duchenne Muscular Dystrophy
Multiplex Polymerase Chain Reaction
Muscles

Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects

Park, J. G., Tischfield, M. A., Nugent, A. A., Cheng, L., Di Gioia, S. A., Chan, W. M., Maconachie, G., Bosley, T., Summers, C. G., Hunter, D. G., Robson, C. D., Gottlob, I. & Engle, E. C., Jun 2 2016, In : American Journal of Human Genetics. 98, 6, p. 1220-1227 8 p.

Research output: Contribution to journalArticle

Oculomotor Muscles
Duane Retraction Syndrome
Inner Ear
Abducens Nerve
Oculomotor Nerve

Retinal Dysfunction in Patients with Congenital Fibrosis of the Extraocular Muscles Type 2

Khan, A. O., Almutlaq, M., Oystreck, D. T., Engle, E. C., Abu-Amero, K. & Bosley, T., Apr 2 2016, In : Ophthalmic Genetics. 37, 2, p. 130-136 7 p.

Research output: Contribution to journalArticle

Amblyopia
Low Vision
Strabismus
Phenotype
Mutation

Spectrum of MRI findings in 58 patients with methanol intoxication: Long-term visual and neurological correlation

Elkhamary, S. M., Fahmy, D. M., Galvez-Ruiz, A., Asghar, N. & Bosley, T., Sep 1 2016, In : Egyptian Journal of Radiology and Nuclear Medicine. 47, 3, p. 1049-1055 7 p.

Research output: Contribution to journalArticle

Putamen
Methanol
Optic Nerve
Necrosis
Optic Atrophy

The genetics of nonsyndromic bilateral Duane retraction syndrome

Abu-Amero, K. K., Khan, A. O., Oystreck, D. T., Kondkar, A. A. & Bosley, T., Oct 1 2016, In : Journal of AAPOS. 20, 5, p. 396-400.e2

Research output: Contribution to journalArticle

Duane Retraction Syndrome
Databases
Comparative Genomic Hybridization
Mutation
Epigenomics
2015

CCDD Phenotype Associated with a Small Chromosome 2 Deletion

Abu-Amero, K. K., Bosley, T., Kondkar, A. A., Oystreck, D. T. & Khan, A. O., Nov 2 2015, In : Seminars in Ophthalmology. 30, 5-6, p. 435-442 8 p.

Research output: Contribution to journalArticle

Chromosome Deletion
Chromosomes, Human, Pair 2
Phenotype
Genes
Muscle Development

Cupping of the optic disk after methanol poisoning

Galvez-Ruiz, A., Elkhamary, S. M., Asghar, N. & Bosley, T., Sep 1 2015, In : British Journal of Ophthalmology. 99, 9, p. 1220-1223 4 p.

Research output: Contribution to journalArticle

Optic Disk
Poisoning
Methanol
Optic Nerve
Visual Acuity

Nicotinic Receptor Mutation in a Mildly Dysmorphic Girl with Duane Retraction Syndrome

Abu-Amero, K. K., Kondkar, A., Hellani, A. M., Oystreck, D. T., Khan, A. O. & Bosley, T., Jun 1 2015, In : Ophthalmic Genetics. 36, 2, p. 99-104 6 p.

Research output: Contribution to journalArticle

Duane Retraction Syndrome
Nicotinic Receptors
Mutation
Genes
Cholinergic Receptors

Partial duplication of chromosome 19 associated with syndromic Duane retraction syndrome

Abu-Amero, K. K., Kondkar, A. A., Al Otaibi, A., Alorainy, I. A., Khan, A. O., Hellani, A. M., Oystreck, D. T. & Bosley, T., Mar 1 2015, In : Ophthalmic Genetics. 36, 1, p. 14-20 7 p.

Research output: Contribution to journalArticle

Duane Retraction Syndrome
Chromosomes, Human, Pair 19
KIR Receptors
Cognition
Chromosome Duplication

Visual and neurologic sequelae of methanol poisoning in Saudi Arabia

Galvez-Ruiz, A., Elkhamary, S. M., Asghar, N. & Bosley, T., 2015, In : Saudi Medical Journal. 36, 5, p. 568-574 7 p.

Research output: Contribution to journalArticle

Saudi Arabia
Poisoning
Nervous System
Methanol
Optic Nerve
2014

HOXA1 mutations are not commonly associated with non-syndromic deafness

Abu-Amero, K. K., Hagr, A. A., Almomani, M. O., Azad, T. A., Alorainy, I. A., Oystreck, D. T. & Bosley, T., Jul 1 2014, In : Canadian Journal of Neurological Sciences. 41, 4, p. 448-451 4 p.

Research output: Contribution to journalArticle

Homeobox Genes
Deafness
Mutation
Inner Ear
Neuroimaging

Microdeletions involving chromosomes 12 and 22 associated with syndromic duane retraction syndrome

Abu-Amero, K. K., Kondkar, A. A., Oystreck, D. T., Khan, A. O. & Bosley, T., 2014, In : Ophthalmic Genetics. 35, 3, p. 162-169 8 p.

Research output: Contribution to journalArticle

Duane Retraction Syndrome
Chromosomes, Human, Pair 22
Chromosomes, Human, Pair 12
Neck
Klippel-Feil Syndrome

Neurologic injury in isolated sulfite oxidase deficiency

Bosley, T., Alorainy, I. A., Oystreck, D. T., Hellani, A. M., Seidahmed, M. Z., Osman, M. E. F., Sabry, M. A., Rashed, M. S., Al-Yamani, E. A., Abu-Amero, K. K. & Salih, M. A., Jan 1 2014, In : Canadian Journal of Neurological Sciences. 41, 1, p. 42-48 7 p.

Research output: Contribution to journalArticle

Nervous System Trauma
Sulfites
Neuroimaging
Oxidoreductases
Brain Hypoxia-Ischemia

Ocular motility abnormalities in orbitofacial neurofibromatosis type 1

Oystreck, D. T., Alorainy, I. A., Morales, J., Chaudhry, I. A., Elkhamary, S. M. & Bosley, T., 2014, In : Journal of AAPOS. 18, 4, p. 338-343 6 p.

Research output: Contribution to journalArticle

Eye Abnormalities
Neurofibromatosis 1
Strabismus
Neurofibromatoses
Orbit

Xq26.3 microdeletion in a male with wildervanck syndrome

Abu-Amero, K. K., Kondkar, A. A., Alorainy, I. A., Khan, A. O., Al-Enazy, L. A., Oystreck, D. T. & Bosley, T., Mar 2014, In : Ophthalmic Genetics. 35, 1, p. 18-24 7 p.

Research output: Contribution to journalArticle

Duane Retraction Syndrome
X Chromosome
Mutation
Siblings
Chromosome Deletion
2013

A newly recognized autosomal recessive syndrome affecting neurologic function and vision

Salih, M. A., Tzschach, A., Oystreck, D. T., Hassan, H. H., Aldrees, A., Elmalik, S. A., El Khashab, H. Y., Wienker, T. F., Abu-Amero, K. K. & Bosley, T., 2013, In : American Journal of Medical Genetics, Part A. 161, 6, p. 1207-1213 7 p.

Research output: Contribution to journalArticle

Nervous System
Seizures
Parents
Genes
Intellectual Disability

Congenital cranial dysinnervation disorders: A concept in evolution

Bosley, T., Abu-Amero, K. K. & Oystreck, D. T., Sep 2013, In : Current Opinion in Ophthalmology. 24, 5, p. 398-406 9 p.

Research output: Contribution to journalReview article

Phenotype
Mobius Syndrome
Duane Retraction Syndrome
Genotype
Genes

New Findings in a Global Approach to Dissect the Whole Phenotype of PLA2G6 Gene Mutations

Salih, M. A., Mundwiller, E., Khan, A. O., AlDrees, A., Elmalik, S. A., Hassan, H. H., Al-Owain, M., Alkhalidi, H. M. S., Katona, I., Kabiraj, M. M., Chrast, R., Kentab, A. Y., Alzaidan, H., Rodenburg, R. J., Bosley, T., Weis, J., Koenig, M., Stevanin, G. & Azzedine, H., Oct 9 2013, In : PLoS One. 8, 10, e76831.

Research output: Contribution to journalArticle

Neuroimaging
Iron
Biopsy
Genes
Phenotype

Ophthalmologic observations in a patient with partial mosaic trisomy 8

Abu-Amero, K. K., Kondkar, A. A., Salih, M. A., Al-Husain, M., Al Shammari, M., Zeidan, G., Oystreck, D. T., Hellani, A. M., Kentab, A. Y. & Bosley, T., Dec 2013, In : Ophthalmic Genetics. 34, 4, p. 249-253 5 p.

Research output: Contribution to journalArticle

Comparative Genomic Hybridization
Esotropia
Karyotyping
Arm
Agenesis of Corpus Callosum

Partial chromosome 7 duplication with a phenotype mimicking the HOXA1 spectrum disorder

Abu-Amero, K. K., Kondkar, A. A., Salih, M. A. M., Alorainy, I. A., Khan, A. O., Oystreck, D. T. & Bosley, T., Mar 2013, In : Ophthalmic Genetics. 34, 1-2, p. 90-96 7 p.

Research output: Contribution to journalArticle

Chromosome Duplication
Chromosomes, Human, Pair 7
Duane Retraction Syndrome
Hearing Loss
Phenotype

Preimplantation genetic diagnosis in isolated sulfite oxidase deficiency

Salih, M., Bosley, T., Alorainy, I., Sabry, M., Rashed, M., Al-Yamani, E., El-Akoum, S., Mohamed, S., Abu-Amero, K. & Hellani, A., 2013, In : Canadian Journal of Neurological Sciences. 40, 1, p. 109-112 4 p.

Research output: Contribution to journalArticle

DNA Mutational Analysis
Inborn Errors Amino Acid Metabolism
Preimplantation Diagnosis
Consanguinity
Chromosomes, Human, Pair 12

Retrospective review of visual outcome in operated lens subluxation

Alzuhairy, S. A., Bosley, T. & Alotaibi, A. G., Oct 2013, In : Saudi Medical Journal. 34, 10, p. 1030-1034 5 p.

Research output: Contribution to journalArticle

Lens Subluxation
Marfan Syndrome
Ectopia Lentis
Visual Acuity
Temazepam

Variable ptosis after botulinum toxin type a injection with positive ice test mimicking ocular myasthenia gravis

Alaraj, A. M., Oystreck, D. T. & Bosley, T., Jun 2013, In : Journal of Neuro-Ophthalmology. 33, 2, p. 169-171 3 p.

Research output: Contribution to journalArticle

Botulinum Toxins
Myasthenia Gravis
Ice
Type A Botulinum Toxins
Injections
2012

Absence of altered expression of optineurin in primary open angle glaucoma patients

Abu-Amero, K. K., Azad, T. A., Spaeth, G. L., Myers, J., Jay Katz, L., Moster, M. & Bosley, T., Jun 1 2012, In : Molecular Vision. 18, p. 1421-1427 7 p.

Research output: Contribution to journalArticle

Globulins
Genes
Gene Expression
Visual Field Tests
Intraocular Pressure

Entropion in children with isolated peripheral facial nerve paresis

Alsuhaibani, A. H., Bosley, T., Goldberg, R. A. & Al-Faky, Y. H., Aug 2012, In : Eye (Basingstoke). 26, 8, p. 1095-1098 4 p.

Research output: Contribution to journalArticle

Entropion
Facial Paralysis
Facial Nerve
Peripheral Nerves
Ectropion

Genome-wide expression profiling of patients with primary open angle glaucoma

Colak, D., Morales, J., Bosley, T., Al-Bakheet, A., AlYounes, B., Kaya, N. & Abu-Amero, K. K., Aug 2012, In : Investigative Ophthalmology and Visual Science. 53, 9, p. 5899-5904 6 p.

Research output: Contribution to journalArticle

Genome
Genes
Proteasome Endopeptidase Complex
Ubiquitin
Nucleic Acids, Nucleotides, and Nucleosides

Living and working abroad as a neurologist

Bosley, T., Dec 2012, In : Neurology: Clinical Practice. 2, 4, p. 328-334 7 p.

Research output: Contribution to journalArticle

Communication Barriers
Altruism
Middle East
China
Appointments and Schedules

Orbitofacial neurofibromatosis: Clinical characteristics and treatment outcome

Chaudhry, I. A., Morales, J., Shamsi, F. A., Al-Rashed, W., Elzaridi, E., Arat, Y. O., Jacquemin, C., Oystreck, D. T. & Bosley, T., Apr 2012, In : Eye. 26, 4, p. 583-592 10 p.

Research output: Contribution to journalArticle

Neurofibromatoses
Neurofibromatosis 1
Cosmetics
Exophthalmos
Strabismus

Prominent corneal nerves: A novel sign of lipoid proteinosis

Al-Faky, Y. H., Bosley, T., Al-Turki, T., Salih, M. A. M., Abu-Amero, K. K. & Alsuhaibani, A. H., Jul 2012, In : British Journal of Ophthalmology. 96, 7, p. 935-940 6 p.

Research output: Contribution to journalArticle

Extracellular Matrix Proteins
Acoustic Microscopy
Mutation
Siblings
Early Diagnosis

Unaltered myocilin expression in the blood of primary open angle glaucoma patients

Abu-Amero, K. K., Azad, T. A., Spaeth, G. L., Myers, J., Katz, L. J., Moster, M. & Bosley, T., Apr 12 2012, In : Molecular Vision. 18, p. 1004-1009 6 p.

Research output: Contribution to journalArticle

Gene Expression
Trabecular Meshwork
Visual Field Tests
Genes
Primary Open Angle Glaucoma

Visual loss in orbitofacial neurofibromatosis type 1

Oystreck, D. T., Morales, J., Chaudhry, I., Alorainy, I. A., Elkhamary, S. M., Pasha, T. M. U. & Bosley, T., Oct 2012, In : Ophthalmology. 119, 10, p. 2168-2173 6 p.

Research output: Contribution to journalReview article

Neurofibromatosis 1
Neurofibromatoses
Optic Nerve Glioma
Glaucoma
Amblyopia
2011

Choroid plexus papilloma metastases to both cerebellopontine angles mimicking neurofibromatosis type 2

Al-Abdullah, A. A., Abu-Amero, K. K., Hellani, A., Alkhalidi, H. & Bosley, T., Mar 2011, In : Journal of Neurology. 258, 3, p. 504-506 3 p.

Research output: Contribution to journalLetter

Choroid Plexus Papilloma
Neurofibromatosis 2
Cerebellopontine Angle
Differential Diagnosis
Neoplasm Metastasis

Congenital myasthenic syndrome due to homozygous CHRNE mutations: Report of patients in Arabia

Salih, M. A., Oystreck, D. T., Al-Faky, Y. H., Kabiraj, M., Omer, M. I. A., Subahi, E. M., Beeson, D., Abu-Amero, K. K. & Bosley, T., Mar 2011, In : Journal of Neuro-Ophthalmology. 31, 1, p. 42-47 6 p.

Research output: Contribution to journalArticle

Arabia
Congenital Myasthenic Syndromes
Siblings
Pyridostigmine Bromide
Lung

Down-regulation of OPA1 in patients with primary open angle glaucoma

Bosley, T., Hellani, A., Spaeth, G. L., Myers, J., Katz, L. J., Moster, M. R., Milcarek, B. & Abu-Amero, K. K., 2011, In : Molecular Vision. 17, p. 1074-1079 6 p.

Research output: Contribution to journalArticle

Optic Atrophy
Down-Regulation
Optic Nerve Diseases
Optic Nerve
Primary Open Angle Glaucoma

Horizontal gaze palsy and progressive scoliosis due to a deleterious mutation in ROBO3

Abu-Amero, K. K., Kapoor, S., Hellani, A., Monga, S. & Bosley, T., Nov 2011, In : Ophthalmic Genetics. 32, 4, p. 231-236 6 p.

Research output: Contribution to journalArticle

Scoliosis
Paralysis
Mutation
Neurologic Examination
Genetic Association Studies

Horizontal gaze palsy and progressive scoliosis without ROBO3 mutations

Abu-Amero, K. K., Faletra, F., Gasparini, P., Parentin, F., Pensiero, S., Alorainy, I. A., Hellani, A. M., Catalano, D. & Bosley, T., Nov 2011, In : Ophthalmic Genetics. 32, 4, p. 212-216 5 p.

Research output: Contribution to journalArticle

Scoliosis
Paralysis
Pathologic Nystagmus
Mutation
Brain Stem

Molecular and neurological characterizations of three Saudi families with lipoid proteinosis

Salih, M. A., Abu-Amero, K. K., Alrasheed, S., Alorainy, I. A., Liu, L., McGrath, J. A., Van Maldergem, L., Al-Fakey, Y. H., AlSuhaibani, A. H., Oystreck, D. T. & Bosley, T., Feb 24 2011, In : BMC Medical Genetics. 12, 31.

Research output: Contribution to journalArticle

Hoarseness
Nervous System
Skin
Nervous System Malformations
Neuroimaging

Recent progress in understanding congenital cranial dysinnervation disorders

Oystreck, D. T., Engle, E. C. & Bosley, T., Mar 2011, In : Journal of Neuro-Ophthalmology. 31, 1, p. 69-77 9 p.

Research output: Contribution to journalReview article

Phenotype
Nervous System
Genes
Cardiovascular Abnormalities
Ocular Motility Disorders

The neurology of carbonic anhydrase type II deficiency syndrome

Bosley, T., Salih, M. A., Alorainy, I. A., Islam, M. Z., Oystreck, D. T., Suliman, O. S. M., Malki, S. A., Suhaibani, A. H., Khiari, H., Beckers, S., Van Wesenbeeck, L., Perdu, B., Aldrees, A., Elmalik, S. A., Van Hul, W. & Abu-Amero, K. K., 2011, In : Brain. 134, 12, p. 3499-3512 14 p.

Research output: Contribution to journalArticle

Neurology
Renal Tubular Acidosis
Brain
Osteopetrosis
Optic Nerve

When straight eyes won't move: Phenotypic overlap of genetically distinct ocular motility disturbances

Oystreck, D. T., Salih, M. A. & Bosley, T., 2011, In : Canadian Journal of Ophthalmology. 46, 6, p. 477-480 4 p.

Research output: Contribution to journalArticle

Oculopharyngeal Muscular Dystrophy
Congenital Myasthenic Syndromes
Genetic Testing
Scoliosis
Paralysis
2010

A de novo marker chromosome derived from 9p in a patient with 9p partial duplication syndrome and autism features: Genotype-phenotype correlation

Abu-Amero, K. K., Hellani, A. M., Salih, M. A., Seidahmed, M. Z., Elmalik, T. S., Zidan, G. & Bosley, T., Sep 21 2010, (Accepted/In press) In : BMC Medical Genetics. p. 135 1 p.

Research output: Contribution to journalArticle

Genetic Association Studies
Autistic Disorder
Genetic Markers
Genes
Metaphase