Ocular pathology in congenital heart disease.

Spontaneous retinal venous pulsatility in patients with cyanotic congenital heart disease. Heart Vessels (2011) 0.79

Macular and peripapillary retinal nerve fibre layer thickness in patients with cyanotic congenital heart disease. Eye (Lond) (2015) 0.78

MAPK activation in mature cataract associated with Noonan syndrome. BMC Ophthalmol (2013) 0.77

A case of bilateral developmental cataract with non-syndromic cyanotic congenital heart disease. Med J Armed Forces India (2012) 0.75

Bilateral persistent pupillary membrane with tetralogy of fallot: a case report and review of the literature. Case Rep Ophthalmol Med (2014) 0.75

Retinal vascular tortuosity in a patient with weill-marchesani syndrome. Case Rep Ophthalmol Med (2011) 0.75

A Case of Anterior Segment Dysgenesis with Iridolenticular Adhesions in Trisomy 18. J Pediatr Genet (2015) 0.75

Reply to ocular pathology in congenital heart disease. Eye (Lond) (2005) 0.75

Population structure in the Mediterranean basin: a Y chromosome perspective. Ann Hum Genet (2006) 2.28

Prevalence and importance of pigmented ocular fundus lesions in Gardner's syndrome. N Engl J Med (1987) 1.76

Dominant inheritance of optic pits. Am J Ophthalmol (1997) 1.74

A comparative histologic study of the fibrillin microfibrillar system in the lens capsule of normal subjects and subjects with Marfan syndrome. Invest Ophthalmol Vis Sci (1998) 1.71

Comparative efficacy of conservative medical and chiropractic treatments for carpal tunnel syndrome: a randomized clinical trail. J Manipulative Physiol Ther (1998) 1.70

A third locus (GLC1D) for adult-onset primary open-angle glaucoma maps to the 8q23 region. Am J Ophthalmol (1998) 1.50

Anterior ischaemic optic neuropathy after coronary artery bypass graft: the role of anaemia in diabetics. Eye (Lond) (2005) 1.49

Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation. J Med Genet (2008) 1.45

Immunohistochemical localization of fibrillin in human ocular tissues. Relevance to the Marfan syndrome. Arch Ophthalmol (1995) 1.44

Determinants of radiologists' productivity in private group practices in California. J Am Coll Radiol (2006) 1.42

Dynamic thoracoplasty for asphyxiating thoracic dystrophy. Ann Thorac Surg (2001) 1.40

Visual prognosis in autosomal dominant optic atrophy (Kjer type). Am J Ophthalmol (1993) 1.38

Comparison of clinical characteristics of familial and sporadic acquired accommodative esotropia. J AAPOS (2001) 1.36

[Amino acids and trisomy 21]. Ann Genet (1992) 1.34

Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease. Hum Genet (2010) 1.33

Ocular findings in aplastic anemia. Ophthalmologica (2000) 1.25

Update on the molecular genetics of retinitis pigmentosa. Ophthalmic Genet (2001) 1.17

The natural history of Leber's congenital amaurosis. Age-related findings in 35 patients. Ophthalmology (1992) 1.10

Oral erythromycin treatment for childhood blepharokeratitis. J AAPOS (2000) 1.10

Long-term follow-up in Bietti crystalline dystrophy. Eur J Ophthalmol (2007) 1.10

Glaucoma in the Marfan syndrome. Trans Am Ophthalmol Soc (1992) 1.09

Ophthalmologic manifestations of X-linked childhood adrenoleukodystrophy. Ophthalmology (1987) 1.09

Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3. J Med Genet (2006) 1.08

Ocular malformations, moyamoya disease, and midline cranial defects: a distinct syndrome. Am J Ophthalmol (1999) 1.07

Value of combined phenotypic markers in identifying inheritance of familial adenomatous polyposis. Gut (1991) 1.07

An Arg311Gln NR2E3 mutation in a family with classic Goldmann-Favre syndrome. Br J Ophthalmol (2005) 1.03

Transient hypertrophic cardiomyopathy in the newborn following multiple doses of antenatal corticosteroids. Am J Perinatol (1999) 1.02

A case of Trichosporon beigelii endocarditis. Eur J Clin Microbiol Infect Dis (2001) 1.01

A family with the Bardet-Biedl syndrome and diabetes mellitus. Arch Ophthalmol (1989) 0.98

Bilateral melanosis of the iris. Am J Ophthalmol (1987) 0.96

Neovascular glaucoma and ischemia. J Clin Neuroophthalmol (1986) 0.96

Optic nerve head swelling and optic atrophy in the systemic mucopolysaccharidoses. Ophthalmology (1990) 0.96

APC gene mutations and extraintestinal phenotype of familial adenomatous polyposis. Gut (1997) 0.95

A histopathologic study of the pigmented fundus lesions in familial adenomatous polyposis. Retina (1992) 0.93

The ocular findings in Kniest dysplasia. Am J Ophthalmol (1985) 0.93

Waardenburg's recessive anophthalmia syndrome. Ophthalmic Paediatr Genet (1984) 0.92

Five mandibular incisors: an autosomal recessive trait? Br Dent J (2004) 0.92

Aniridia, atypical iris defects, optic pit and the morning glory disc anomaly in a family. Ophthalmic Paediatr Genet (1986) 0.91

Doppler characterization of left ventricular diastolic function in beta-thalassaemia major. Evidence for an early stage of impaired relaxation. Eur J Echocardiogr (2002) 0.91

Periocular pigmentation in the Peutz-Jeghers syndrome. Am J Ophthalmol (1986) 0.91

Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability. Clin Genet (2013) 0.90

Mapping a new genetic locus for X linked retinitis pigmentosa to Xq28. J Med Genet (2006) 0.89

Traumatic pseudoaneurysm of the left sinus of Valsalva: a case report. J Am Soc Echocardiogr (1997) 0.87

An unusual case of hyperkalaemia-induced cardiac arrest in a paediatric patient during transfusion of a 'fresh' 6-day-old blood unit. Transfus Med (2002) 0.87

A new locus for dominant drusen and macular degeneration maps to chromosome 6q14. Am J Ophthalmol (2000) 0.87

A family with a syndrome of ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism. Ophthalmic Genet (1995) 0.86

Exclusion of chromosome 9 helps to identify mild variants of acromesomelic dysplasia Maroteaux type. J Med Genet (2000) 0.86

Hepatoblastoma, pigmented ocular fundus lesions and jaw lesions in Gardner syndrome. Am J Med Genet (1988) 0.86

Confirmation of the autosomal recessive syndrome of ectopia lentis and distinctive craniofacial appearance. Am J Med Genet (2001) 0.85

Screening relatives of patients with familial chronic open angle glaucoma. Ophthalmology (2000) 0.85

Melanocytoma of the ciliary body: presentation of four cases and review of nineteen reports. Surv Ophthalmol (1985) 0.84

Clinical spectrum of chromosome 6-linked autosomal dominant drusen and macular degeneration. Am J Ophthalmol (2000) 0.84

Crystalline retinopathy. Ann Ophthalmol (1987) 0.84

Microcephaly, colobomatous microphthalmia, short stature, and severe psychomotor retardation in two male cousins: a new MCA/MR syndrome? Am J Med Genet (1999) 0.83

Keratoconus after penetrating keratoplasty. Ophthalmic Surg (1990) 0.83

Visual outcome after surgery for Peters' anomaly. Ophthalmic Genet (1994) 0.82

HLA-C molecular characterization of a Lebanese population and genetic structure of 39 populations from Europe to India-Pakistan. Tissue Antigens (2006) 0.82

Progression of retinopathy in olivopontocerebellar atrophy with retinal degeneration. Arch Ophthalmol (1992) 0.82

Effect of aminophylline on complete atrioventricular block with ventricular asystole following blunt chest trauma. Injury (2001) 0.82

An autosomal recessive cerebellar ataxia syndrome with upward gaze palsy, neuropathy, and seizures. Neurology (2005) 0.82

Extraocular muscle aplasia in Moebius syndrome. J Pediatr Ophthalmol Strabismus (1986) 0.81

Dominant radial drusen and Arg345Trp EFEMP1 mutation. Am J Ophthalmol (2001) 0.81

The genetics of strabismus. Am Orthopt J (2001) 0.80

Foreign body retrieval in children with respiratory symptoms and no history of aspiration. Middle East J Anaesthesiol (2000) 0.80

Differences in purine metabolism in patients with Down's syndrome. J Intellect Disabil Res (1993) 0.80

Bilateral microphthalmia with cyst, facial clefts, and limb anomalies: a new syndrome with features of Waardenburg syndrome, cerebro-oculo-nasal syndrome, and craniotelencephalic dysplasia. Am J Med Genet A (2003) 0.80

Radiologic findings in infected and noninfected scleral buckles. Eur J Ophthalmol (2007) 0.80

Virus-induced chalazion. Eye (Lond) (2006) 0.80

A new patient with pure trisomy 4p resulting from isochromosome formation and whole arm translocation. Am J Med Genet A (2004) 0.79

The retinopathy of primary hyperoxaluria. Retina (1985) 0.79

Duane's retraction syndrome in the fetal alcohol syndrome. Am J Ophthalmol (1990) 0.79

Retinal pigment epithelium tear as a cause of vitreous hemorrhage. Ann Ophthalmol (1985) 0.79

Anterior segment malformations in 18q- (de Grouchy) syndrome. Ophthalmic Paediatr Genet (1993) 0.79

Multiple myeloma presenting with optic nerve compression. Eye (Lond) (2001) 0.79

Strabismus in the Marfan syndrome. Am J Ophthalmol (1994) 0.78

Spondylometaphyseal dysplasia with cone-rod dystrophy. Ophthalmic Genet (2010) 0.78

Echocardiographic prevalence of mitral and/or aortic regurgitation in patients exposed to either fenfluramine-phentermine combination or to dexfenfluramine. Am J Cardiol (1999) 0.78

Molecular screening of MECP2 gene in a cohort of Lebanese patients suspected with Rett syndrome: report on a mild case with a novel indel mutation. J Intellect Disabil Res (2011) 0.77

Metabolic anomalies in cri du chat syndrome (5p-) lymphocytes and de novo purine synthesis. Ann Genet (1991) 0.77

Familial posterior lenticonus and microcornea. Arch Ophthalmol (1992) 0.77

Dominant syndrome with isolated cryptophthalmos and ocular anomalies. Am J Med Genet (1992) 0.76

Familial adenomatous polyposis. Dis Colon Rectum (1989) 0.76

Hereditary pigmented paravenous chorioretinal atrophy. Arch Ophthalmol (1986) 0.76

Ocular findings in partial trisomy 3q. A case report and review of the literature. Ophthalmic Paediatr Genet (1988) 0.76

Corneal opacities in Gaucher disease. Am J Ophthalmol (1998) 0.76

Pigmented fundus lesions in a preterm infant with familial adenomatous polyposis. Arch Ophthalmol (1993) 0.76

Anterior transposition of the inferior oblique muscle as the initial treatment of a snapped inferior rectus muscle. J AAPOS (2001) 0.76

A patient with de Morsier and Duane syndromes. J AAPOS (2000) 0.76

[Frontal pseudo-tumoral form of adrenoleukodystrophy]. Rev Neurol (Paris) (2000) 0.76

Idiopathic macular hypoplasia: a report of four cases and refinement of the phenotype of so-called ateliotic macula. Eur J Ophthalmol (2006) 0.76

Coats' disease and central nervous system venous malformation. Ophthalmic Genet (1996) 0.75

Persistent hyperplastic primary vitreous and recessive oculo-dento-osseous dysplasia. Am J Med Genet (1986) 0.75

Bread crumb-flecked retinopathy. Retina (1993) 0.75

Morning glory disc anomaly or optic disc coloboma? Arch Ophthalmol (1994) 0.75

To lump or to split? Ophthalmic Paediatr Genet (1993) 0.75

Ocular findings in the candidiasis-endocrinopathy syndrome. Am J Ophthalmol (1985) 0.75

X-linked microphthalmia syndrome. Am J Med Genet (1990) 0.75

International cooperation in the expansion of a newborn screening programme in Lebanon: a possible model for other programmes. J Inherit Metab Dis (2008) 0.75