Search Results - "Collin, J Richard O."
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Trachomatous Trichiasis and its Management in Endemic Countries
Published in Survey of ophthalmology (01-03-2012)“…Abstract Trichiasis is the sight-threatening consequence of conjunctival scarring in trachoma, the most common infectious cause of blindness worldwide…”
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2
Heterozygous Mutations of OTX2 Cause Severe Ocular Malformations
Published in American journal of human genetics (01-06-2005)“…Major malformations of the human eye, including microphthalmia and anophthalmia, are examples of phenotypes that recur in families yet often show no clear…”
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3
Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators
Published in Human genetics (01-12-2009)“…Mutations in the transcription factor encoding TFAP2A gene underlie branchio-oculo-facial syndrome (BOFS), a rare dominant disorder characterized by…”
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4
A Surgical Strategy for the Correction of Fraser Syndrome Cryptophthalmos
Published in Ophthalmology (Rochester, Minn.) (01-09-2009)“…Purpose To describe a systematic approach for managing the structural adnexal anomalies encountered in Fraser syndrome, a multisystem, autosomal recessive…”
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5
Mutations in SOX2 cause anophthalmia
Published in Nature genetics (01-04-2003)“…A submicroscopic deletion containing SOX2 was identified at the 3q breakpoint in a child with t(3;11)(q26.3;p11.2) associated with bilateral anophthalmia…”
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6
Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies
Published in Human mutation (01-10-2009)“…FOXE3 is a lens-specific transcription factor with a highly conserved forkhead domain previously implicated in congenital primary aphakia and anterior segment…”
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7
SOX2 anophthalmia syndrome
Published in American journal of medical genetics. Part A (15-05-2005)“…Heterozygous, de novo, loss‐of‐function mutations in SOX2 have been shown to cause bilateral anophthalmia. Here we provide a detailed description of the…”
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8
Mutations in BMP4 Cause Eye, Brain, and Digit Developmental Anomalies: Overlap between the BMP4 and Hedgehog Signaling Pathways
Published in American journal of human genetics (01-02-2008)“…Developmental ocular malformations, including anophthalmia-microphthalmia (AM), are heterogeneous disorders with frequent sporadic or non-Mendelian…”
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9
Innervation and Secretory Function of Transplanted Human Submandibular Salivary Glands
Published in Transplantation (15-01-2008)“…Free submandibular gland autotransplantation is used to treat absolute tear deficiency. Although disconnected from any peripheral innervation, most transplants…”
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10
Incidence of eyelid basal cell carcinoma in England: 2000-2010
Published in British journal of ophthalmology (01-02-2017)“…Basal cell carcinomas (BCCs) are the most frequently diagnosed type of skin cancer, with eyelid (including canthus) BCCs accounting for a notable proportion of…”
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11
Orbitotemporal neurofibromatosis. Clinical features and surgical management
Published in Ophthalmology (Rochester, Minn.) (01-02-2004)“…To classify the periorbital deformities of adult orbitotemporal neurofibromatosis (NF) and describe new clinical findings, and to recommend guidelines for…”
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12
Rapid Rehabilitation With Skin-Muscle Sparing Orbital Exenteration: A Single-Center Series
Published in Ophthalmic plastic and reconstructive surgery (01-01-2021)“…To examine the features and clinical management of patients who underwent skin-muscle sparing orbital exenteration in a tertiary referral center. Retrospective…”
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13
Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma
Published in Human mutation (01-11-2008)“…Severe ocular malformations, including anophthalmia‐microphthalmia (AM), are responsible for around 25% of severe visual impairment in childhood. Recurrent…”
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14
Eyelid reconstruction: the state of the art
Published in Current opinion in otolaryngology & head and neck surgery (01-08-2004)Get full text
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15
Kinematic analysis in oculoplastic reconstructive surgery: measuring manual control and fluidity of movement
Published in Archives of ophthalmology (1960) (01-12-2012)“…To evaluate higher-order kinematic analysis, a technique not previously applied to surgical skills assessment, as a tool for elucidating patterns of movement…”
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16
Training and Oculoplastics: Past, Present and Future
Published in Orbit (Amsterdam) (01-04-2013)“…Abstract Purpose: To describe the evolution of ophthalmic plastic surgical training since the establishment of an oculoplastic subspecialty. Methods: A…”
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17
Outcome following surgery for contact lens-induced ptosis
Published in Ophthalmic plastic and reconstructive surgery (01-05-2011)“…To assess the outcome of surgery in patients with a history of contact lens wear. Retrospective, comparative interventional case series. A total of 419…”
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Ophthalmic experience with submandibular gland transplantation for severe dry eyes
Published in The Laryngoscope (01-07-2009)Get full text
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19
Early midline interactions are important in mouse optic chiasm formation but are not critical in man: a significant distinction between man and mouse
Published in The European journal of neuroscience (01-06-2006)“…The optic chiasm is one of the most popular models for studying axon guidance. Here axons make a key binary decision either to cross the midline to innervate…”
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20
Sebaceous carcinoma of the eyelid: a clinicopathological study
Published in British journal of ophthalmology (01-09-1998)“…BACKGROUND Sebaceous carcinoma of the eyelid is rare. The diagnosis might be difficult because of its ability to masquerade as other periocular lesions…”
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