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Cone dystrophy associated with autoimmune polyglandular syndrome type 1

Scientific reports, 2023-07, Vol.13 (1), p.11223-11223, Article 11223

2023

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Clinical Characterization of LRPAP1 -Related Pediatric High Myopia

Ophthalmology (Rochester, Minn.), 2016-02, Vol.123 (2), p.434-435

2016

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Genetic testing results of children suspected to have Stickler syndrome type collagenopathy after ocular examination

Molecular genetics & genomic medicine, 2021-05, Vol.9 (5), p.e1628-n/a

2021

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The ECEL1 -related strabismus phenotype is consistent with congenital cranial dysinnervation disorder

Journal of AAPOS, 2014-08, Vol.18 (4), p.362-367

2014

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Congenital ptosis, scoliosis, and malignant hyperthermia susceptibility in siblings with recessive RYR1 mutations

Journal of AAPOS, 2015-12, Vol.19 (6), p.577-579

2015

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Juvenile Cataract Morphology in 3 Siblings Not Yet Diagnosed with Cerebrotendinous Xanthomatosis

Ophthalmology (Rochester, Minn.), 2013-05, Vol.120 (5), p.956-960

2013

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Elevation deficiency in children with recessive RDH12 -related retinopathy

Journal of AAPOS, 2015-12, Vol.19 (6), p.568-570

2015

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LOXL3, encoding lysyl oxidase-like 3, is mutated in a family with autosomal recessive Stickler syndrome

Human genetics, 2015-04, Vol.134 (4), p.451-453

2015

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LEPREL1 -RELATED GIANT RETINAL TEAR DETACHMENTS MIMIC THE PHENOTYPE OF OCULAR STICKLER SYNDROME

Retina (Philadelphia, Pa.), 2023-03, Vol.43 (3), p.498

2023

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Congenital glaucoma with acquired peripheral circumferential iris degeneration

Journal of AAPOS, 2013-02, Vol.17 (1), p.105-107

2013

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The distinct ophthalmic phenotype of Knobloch syndrome in children

British journal of ophthalmology, 2012-06, Vol.96 (6), p.890-895

2012

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Corneal enlargement without optic disk cupping in children with recessive CYP1B1 mutations

Journal of AAPOS, 2013-12, Vol.17 (6), p.643-645

2013

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Clinical characterisation of the CABP4-related retinal phenotype

British journal of ophthalmology, 2013-03, Vol.97 (3), p.262-265

2013

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CYP1B1 analysis of unilateral primary newborn glaucoma in Saudi children

Journal of AAPOS, 2012-12, Vol.16 (6), p.571-572

2012

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‘Cone dystrophy with supranormal rod response’ in children

British journal of ophthalmology, 2012-03, Vol.96 (3), p.422-426

2012

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Biometric and Molecular Characterization of Clinically Diagnosed Posterior Microphthalmos

American journal of ophthalmology, 2013-02, Vol.155 (2), p.361-372.e7

2013

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Early-Onset Myopia and Retinal Detachment without Typical Microcoria or Severe Proteinuria due to a Novel LAMB2 Variant

Ophthalmology retina, 2024-02, Vol.8 (2), p.155-162

2024

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Familial juvenile glaucoma with underlying homozygous p.G61E CYP1B1 mutations

Journal of AAPOS, 2011-04, Vol.15 (2), p.198-199

2011

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Exome-based case–control association study using extreme phenotype design reveals novel candidates with protective effect in diabetic retinopathy

Human genetics, 2016-02, Vol.135 (2), p.193-200

2016

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Brittle cornea syndrome ZNF469 mutation carrier phenotype and segregation analysis of rare ZNF469 variants in familial keratoconus

Investigative ophthalmology & visual science, 2015-01, Vol.56 (1), p.578-586

2015

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Tyrosine-mutant AAV8 delivery of human MERTK provides long-term retinal preservation in RCS rats

Investigative ophthalmology & visual science, 2012-04, Vol.53 (4), p.1895-1904

2012

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Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma - a distinct phenotype caused by recessive LTBP2 mutations

Molecular vision, 2011, Vol.17, p.2570-2579

2011

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Recessive Mutations in LEPREL1 Underlie a Recognizable Lens Subluxation Phenotype

Ophthalmic genetics, 2015-03, Vol.36 (1), p.58-63

2015

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The RPGRIP1-related retinal phenotype in children

British journal of ophthalmology, 2013-06, Vol.97 (6), p.760-764

2013

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RGS6: a novel gene associated with congenital cataract, mental retardation, and microcephaly in a Tunisian family

Investigative ophthalmology & visual science, 2014-12, Vol.56 (2), p.1261-1266

2014

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Cone dystrophy associated with autoimmune polyglandular syndrome type 1

Clinical Characterization of LRPAP1 -Related Pediatric High Myopia

Genetic testing results of children suspected to have Stickler syndrome type collagenopathy after ocular examination

The ECEL1 -related strabismus phenotype is consistent with congenital cranial dysinnervation disorder

Congenital ptosis, scoliosis, and malignant hyperthermia susceptibility in siblings with recessive RYR1 mutations

Juvenile Cataract Morphology in 3 Siblings Not Yet Diagnosed with Cerebrotendinous Xanthomatosis

Elevation deficiency in children with recessive RDH12 -related retinopathy

LOXL3, encoding lysyl oxidase-like 3, is mutated in a family with autosomal recessive Stickler syndrome

LEPREL1 -RELATED GIANT RETINAL TEAR DETACHMENTS MIMIC THE PHENOTYPE OF OCULAR STICKLER SYNDROME

Congenital glaucoma with acquired peripheral circumferential iris degeneration

The distinct ophthalmic phenotype of Knobloch syndrome in children

Corneal enlargement without optic disk cupping in children with recessive CYP1B1 mutations

Clinical characterisation of the CABP4-related retinal phenotype

CYP1B1 analysis of unilateral primary newborn glaucoma in Saudi children

‘Cone dystrophy with supranormal rod response’ in children

Biometric and Molecular Characterization of Clinically Diagnosed Posterior Microphthalmos

Early-Onset Myopia and Retinal Detachment without Typical Microcoria or Severe Proteinuria due to a Novel LAMB2 Variant

Familial juvenile glaucoma with underlying homozygous p.G61E CYP1B1 mutations

Exome-based case–control association study using extreme phenotype design reveals novel candidates with protective effect in diabetic retinopathy

Brittle cornea syndrome ZNF469 mutation carrier phenotype and segregation analysis of rare ZNF469 variants in familial keratoconus

Tyrosine-mutant AAV8 delivery of human MERTK provides long-term retinal preservation in RCS rats

Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma - a distinct phenotype caused by recessive LTBP2 mutations

Recessive Mutations in LEPREL1 Underlie a Recognizable Lens Subluxation Phenotype

The RPGRIP1-related retinal phenotype in children

RGS6: a novel gene associated with congenital cataract, mental retardation, and microcephaly in a Tunisian family

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