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Fundus autofluorescence imaging in hereditary retinal diseases

Acta ophthalmologica (Oxford, England), 2018-08, Vol.96 (5), p.e549-e561

2018

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ADAMTS18 -related anterior segment dysgenesis mistaken as Axenfeld-Rieger syndrome

Taiwan journal of ophthalmology, 2023-10, Vol.13 (4), p.540-542

Khan, Arif O

2023

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Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes

Genome research, 2013-02, Vol.23 (2), p.236

2013

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Mutations in ASPH Cause Facial Dysmorphism, Lens Dislocation, Anterior-Segment Abnormalities, and Spontaneous Filtering Blebs, or Traboulsi Syndrome

American journal of human genetics, 2014-05, Vol.94 (5), p.755-759

2014

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Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish

American journal of human genetics, 2017-07, Vol.101 (1), p.23-36

2017

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Recognizing the KCNV2 -Related Retinal Phenotype

Ophthalmology (Rochester, Minn.), 2013-11, Vol.120 (11), p.e79-e80

Khan, Arif O., MD

2013

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Anterior segment dysgenesis: Insights into the genetics and pathogenesis

Indian journal of ophthalmology, 2022-07, Vol.70 (7), p.2293-2303

2022

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Mutations in LRPAP1 Are Associated with Severe Myopia in Humans

American journal of human genetics, 2013-08, Vol.93 (2), p.313-320

2013

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Loss of the collagen IV modifier prolyl 3-hydroxylase 2 causes thin basement membrane nephropathy

The Journal of clinical investigation, 2022-05, Vol.132 (9), p.1-13

2022

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Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts

PloS one, 2015-09, Vol.10 (9), p.e0137973-e0137973

2015

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CABP4 Mutations Do Not Cause Congenital Stationary Night Blindness

Ophthalmology (Rochester, Minn.), 2014-03, Vol.121 (3), p.e15-e15

Khan, Arif O., MD

2014

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A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula

Scientific reports, 2017-05, Vol.7 (1), p.1411-10, Article 1411

2017

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Potential ASPH -Related Ectopia Lentis

Journal of neuro-ophthalmology, 2024-06, Vol.44 (2), p.283

Khan, Arif O

2024

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New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutations

PloS one, 2013-10, Vol.8 (10), p.e76831-e76831

2013

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Usher syndrome in the United Arab Emirates

Ophthalmic genetics, 2024-07, p.1-5

Khan, Arif O.

2024

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RPGRIP1 -related retinal disease presenting as isolated cone dysfunction

Ophthalmic genetics, 2023-11, Vol.44 (6), p.1-597

Khan, Arif O

2023

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Ophthalmic Features of Children Not Yet Diagnosed with Alstrom Syndrome

Ophthalmology (Rochester, Minn.), 2015-08, Vol.122 (8), p.1726-1727.e2

2015

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FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1

Nature communications, 2016-04, Vol.7 (1), p.10953-10953, Article 10953

2016

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Ophthalmic diagnosis and optical coherence tomography of abetalipoproteinemia, a treatable form of pediatric retinal dystrophy

Journal of AAPOS, 2019-06, Vol.23 (3), p.176-177

2019

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Phenotypes and genotypes underlying paradoxical pupillary reaction in children

Journal of AAPOS, 2022-08, Vol.26 (4), p.205-207

Khan, Arif O.

2022

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Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital Cataracts

PloS one, 2016-11, Vol.11 (11), p.e0162620-e0162620

2016

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Two-Year Survival of Ahmed Valve Implantation in the First 2 Years of Life with and without Intraoperative Mitomycin-C

Ophthalmology (Rochester, Minn.), 2009-10, Vol.116 (10), p.1862-1865

2009

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Peripherin mutations cause a distinct form of recessive Leber congenital amaurosis and dominant phenotypes in asymptomatic parents heterozygous for the mutation

British journal of ophthalmology, 2016-02, Vol.100 (2), p.209-215

2016

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Paradoxical keratitis and dermatitis following adalimumab treatment

Journal of AAPOS, 2024-07, p.103970, Article 103970

2024

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Juvenile progressive optic atrophy as the presenting feature of biotinidase deficiency, a treatable metabolic disorder

Journal of AAPOS, 2021-08, Vol.25 (4), p.248-250

Khan, Arif O.

2021

Volltextzugriff (PDF)

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Fundus autofluorescence imaging in hereditary retinal diseases

ADAMTS18 -related anterior segment dysgenesis mistaken as Axenfeld-Rieger syndrome

Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes

Mutations in ASPH Cause Facial Dysmorphism, Lens Dislocation, Anterior-Segment Abnormalities, and Spontaneous Filtering Blebs, or Traboulsi Syndrome

Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish

Recognizing the KCNV2 -Related Retinal Phenotype

Anterior segment dysgenesis: Insights into the genetics and pathogenesis

Mutations in LRPAP1 Are Associated with Severe Myopia in Humans

Loss of the collagen IV modifier prolyl 3-hydroxylase 2 causes thin basement membrane nephropathy

Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts

CABP4 Mutations Do Not Cause Congenital Stationary Night Blindness

A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula

Potential ASPH -Related Ectopia Lentis

New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutations

Usher syndrome in the United Arab Emirates

RPGRIP1 -related retinal disease presenting as isolated cone dysfunction

Ophthalmic Features of Children Not Yet Diagnosed with Alstrom Syndrome

FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1

Ophthalmic diagnosis and optical coherence tomography of abetalipoproteinemia, a treatable form of pediatric retinal dystrophy

Phenotypes and genotypes underlying paradoxical pupillary reaction in children

Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital Cataracts

Two-Year Survival of Ahmed Valve Implantation in the First 2 Years of Life with and without Intraoperative Mitomycin-C

Peripherin mutations cause a distinct form of recessive Leber congenital amaurosis and dominant phenotypes in asymptomatic parents heterozygous for the mutation

Paradoxical keratitis and dermatitis following adalimumab treatment

Juvenile progressive optic atrophy as the presenting feature of biotinidase deficiency, a treatable metabolic disorder

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