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The Marshall M. Parks memorial lecture: making sense of early-onset childhood retinal dystrophies—the clinical phenotype of Leber congenital amaurosis

British Journal of Ophthalmology, 2010-10, Vol.94 (10), p.1281-1287

Traboulsi, E I

2010

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Clinical characteristics of recessive retinal degeneration due to mutations in the CDHR1 gene and a review of the literature

Ophthalmic genetics, 2018-01, Vol.39 (1), p.51-55

2018

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Accuracy of EUS and CEH EUS for the diagnosis of pancreatic tumours

Scandinavian journal of gastroenterology, 2018-11, Vol.53 (10-11), p.1411-1417

2018

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TULP1 related retinal dystrophy: report of rare and novel variants with a previously undescribed phenotype in two cases

Ophthalmic genetics, 2022-04, Vol.43 (2), p.277-281

2022

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Evaluation of clinical relevance of examining K-ras, p16 and p53 mutations along with allelic losses at 9p and 18q in EUS-guided fine needle aspiration samples of patients with chronic pancreatitis and pancreatic cancer

World journal of gastroenterology : WJG, 2007-07, Vol.13 (27), p.3714

2007

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Associated systemic and ocular disorders in patients with congenital unilateral cataracts: the Infant Aphakia Treatment Study experience

Eye (London), 2016-09, Vol.30 (9), p.1170-1174

2016

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Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet–Biedl syndrome patient population

Journal of medical genetics, 2010-07, Vol.47 (7), p.453-463

2010

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Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3

Journal of medical genetics, 2006-03, Vol.43 (3), p.e11-e11

2006

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A third locus (GLC1D) for adult-onset primary open-angle glaucoma maps to the 8q23 region

American journal of ophthalmology, 1998-07, Vol.126 (1), p.17-28

1998

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Ocular pathology in congenital heart disease

Eye (London), 2005-01, Vol.19 (1), p.29-34

2005

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Management of Hypertension in the Elderly Patient at Abidjan Cardiology Institute (Ivory Coast)

International Journal of Hypertension, 2012-01, Vol.2012 (2012), p.560-565

2012

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X-Linked Cone-Rod Dystrophy (Locus COD1): Identification of Mutations in RPGR Exon ORF15

American journal of human genetics, 2002-04, Vol.70 (4), p.1049-1053

2002

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An Arg311Gln NR2E3 mutation in a family with classic Goldmann-Favre syndrome

British journal of ophthalmology, 2005-08, Vol.89 (8), p.1065-1066

2005

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Pituitary stalk duplication in association with moya moya disease and bilateral morning glory disc anomaly – broadening the clinical spectrum of midline defects

Journal of neurology, 2008-06, Vol.255 (6), p.885-890

2008

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Clinical and Molecular Genetic Aspects of Optic Nerve Hypoplasia

Acta ophthalmologica (Oxford, England), 2011-09, Vol.89 (s248), p.0-0

TRABOULSI, E

2011

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Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy

Ophthalmic genetics, 2010-03, Vol.31 (1), p.12-17

2010

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Choroideremia: A review of general findings and pathogenesis

Ophthalmic genetics, 2012-06, Vol.33 (2), p.57-65

2012

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APC gene mutations and extraintestinal phenotype of familial adenomatous polyposis

Gut, 1997-04, Vol.40 (4), p.521-525

1997

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Giant intracavernous carotid aneurysm presenting as isolated sixth nerve palsy in an infant

British journal of ophthalmology, 2008-04, Vol.92 (4), p.576-577

2008

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Nonfunctional parathyroid cancer a case report

Perspectives in Surgery, 2021, Vol.100 (3), p.133

2021

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Prevalence of obesity in school children in Ivory Coast

Annales de cardiologie et d'angeiologie, 2012-06, Vol.61 (3), p.145-149

2012

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Choroideremia: Effect of age on visual acuity in patients and female carriers

Ophthalmic genetics, 2012-06, Vol.33 (2), p.66-73

2012

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Mapping a new genetic locus for X linked retinitis pigmentosa to Xq28

Journal of medical genetics, 2006-06, Vol.43 (6), p.e27-e27

2006

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Posterior scleral choristoma in the organoid nevus syndrome (linear nevus sebaceus of Jadassohn)

Ophthalmology (Rochester, Minn.), 1999-11, Vol.106 (11), p.2126-2130

1999

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Ocular malformations, moyamoya disease, and midline cranial defects: a distinct syndrome

American journal of ophthalmology, 1999-03, Vol.127 (3), p.356-357

1999

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The Marshall M. Parks memorial lecture: making sense of early-onset childhood retinal dystrophies—the clinical phenotype of Leber congenital amaurosis

Clinical characteristics of recessive retinal degeneration due to mutations in the CDHR1 gene and a review of the literature

Accuracy of EUS and CEH EUS for the diagnosis of pancreatic tumours

TULP1 related retinal dystrophy: report of rare and novel variants with a previously undescribed phenotype in two cases

Evaluation of clinical relevance of examining K-ras, p16 and p53 mutations along with allelic losses at 9p and 18q in EUS-guided fine needle aspiration samples of patients with chronic pancreatitis and pancreatic cancer

Associated systemic and ocular disorders in patients with congenital unilateral cataracts: the Infant Aphakia Treatment Study experience

Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet–Biedl syndrome patient population

Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3

A third locus (GLC1D) for adult-onset primary open-angle glaucoma maps to the 8q23 region

Ocular pathology in congenital heart disease

Management of Hypertension in the Elderly Patient at Abidjan Cardiology Institute (Ivory Coast)

X-Linked Cone-Rod Dystrophy (Locus COD1): Identification of Mutations in RPGR Exon ORF15

An Arg311Gln NR2E3 mutation in a family with classic Goldmann-Favre syndrome

Pituitary stalk duplication in association with moya moya disease and bilateral morning glory disc anomaly – broadening the clinical spectrum of midline defects

Clinical and Molecular Genetic Aspects of Optic Nerve Hypoplasia

Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy

Choroideremia: A review of general findings and pathogenesis

APC gene mutations and extraintestinal phenotype of familial adenomatous polyposis

Giant intracavernous carotid aneurysm presenting as isolated sixth nerve palsy in an infant

Nonfunctional parathyroid cancer a case report

Prevalence of obesity in school children in Ivory Coast

Choroideremia: Effect of age on visual acuity in patients and female carriers

Mapping a new genetic locus for X linked retinitis pigmentosa to Xq28

Posterior scleral choristoma in the organoid nevus syndrome (linear nevus sebaceus of Jadassohn)

Ocular malformations, moyamoya disease, and midline cranial defects: a distinct syndrome

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