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Cellular, Molecular and Clinical Characterization of Patients with Hermansky–Pudlak Syndrome Type 5

Traffic (Copenhagen, Denmark), 2004-09, Vol.5 (9), p.711-722

2004

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Hermansky‐Pudlak syndrome type 1: gene organization, novel mutations, and clinical‐molecular review of non‐Puerto Rican cases

Human mutation, 2002-12, Vol.20 (6), p.482-482

2002

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Keratopathy of Multiple Myeloma Masquerading as Corneal Crystals of Ocular Cystinosis

Mayo Clinic proceedings, 2004-03, Vol.79 (3), p.410-412

2004

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Use of nitisinone in patients with alkaptonuria

Metabolism, clinical and experimental, 2005-06, Vol.54 (6), p.719-728

2005

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Nephropathic cystinosis : Posterior segment manifestations and effects of cysteamine therapy

Ophthalmology (Rochester, Minn.), 2006-06, Vol.113 (6), p.1002-1009

2006

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Loss of heterozygosity for the NF2 gene in retinal and optic nerve lesions of patients with neurofibromatosis 2

The Journal of pathology, 2002-09, Vol.198 (1), p.14-20

2002

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Genetic Defects and Clinical Characteristics of Patients with a Form of Oculocutaneous Albinism (Hermansky–Pudlak Syndrome)

The New England journal of medicine, 1998-04, Vol.338 (18), p.1258-1265

1998

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Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases

Human mutation, 2002-12, Vol.20 (6), p.482-482

2002

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Hermansky-Pudlak Syndrome Type 3 in Ashkenazi Jews and Other Non–Puerto Rican Patients with Hypopigmentation and Platelet Storage-Pool Deficiency

American journal of human genetics, 2001-11, Vol.69 (5), p.1022-1032

2001

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Ocular nonnephropathic cystinosis : Clinical, biochemical, and molecular correlations

Pediatric research, 2000, Vol.47 (1), p.17-23

2000

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Milder ocular findings in Hermansky–Pudlak syndrome type 3 compared with Hermansky–Pudlak syndrome type 1

Ophthalmology (Rochester, Minn.), 2004-08, Vol.111 (8), p.1599-1603

2004

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Pilot Trial of the Safety, Tolerability, and Retinoid Levels of N-(4-hydroxyphenyl) Retinamide in Combination With Tamoxifen in Patients at High Risk for Developing Invasive Breast Cancer

Journal of clinical oncology, 2000-01, Vol.18 (2), p.275-283

2000

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Age-Related Prevalence of Anterior Segment Complications in Patients With Infantile Nephropathic Cystinosis

Cornea, 2002-03, Vol.21 (2), p.173-176

2002

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Usher syndrome clinical types I and II: Could ocular symptoms and signs differentiate between the two types?

Acta ophthalmologica Scandinavica, 2002-04, Vol.80 (2), p.196-201

2002

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Correlation of visual acuity and ocular pigmentation with the 16-bp duplication in the HPS-1 gene of Hermansky-Pudlak syndrome, a form of albinism

Ophthalmology (Rochester, Minn.), 2000-04, Vol.107 (4), p.783-789

2000

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Clinical Biochemical and Pathologic Correlations in Bietti's Crystalline Dystrophy

American journal of ophthalmology, 1994-11, Vol.118 (5), p.569-582

1994

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Evaluation of Visual Function Following Neodymium:YAG Laser Posterior Capsulotomy

Ophthalmology (Rochester, Minn.), 1997-08, Vol.104 (8), p.1287-1293

1997

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Three New Mutations in a Gene Causing Hermansky–Pudlak Syndrome: Clinical Correlations

Molecular genetics and metabolism, 1998-06, Vol.64 (2), p.99-107

1998

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Neurofibromatosis 2 (NF2): Clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity

American journal of medical genetics, 1994-10, Vol.52 (4), p.450-461

1994

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Classic nephropathic cystinosis as an adult disease

JAMA : the journal of the American Medical Association, 1993-11, Vol.270 (18), p.2200

1993

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Use of an arginine-restricted diet to slow progression of visual loss in patients with gyrate atrophy

Archives of ophthalmology (1960), 2004-07, Vol.122 (7), p.982

2004

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Corneal Crystals in Nephropathic Cystinosis: Natural History and Treatment with Cysteamine Eyedrops

Molecular Genetics and Metabolism, 2000-09, Vol.71 (1-2), p.100-120

2000

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Removal of corneal crystals by topical cysteamine in nephropathic cystinosis

The New England journal of medicine, 1987-03, Vol.316 (13), p.775-779

1987

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Ocular manifestations of metabolic disorders

Current opinion in ophthalmology, 1996-12, Vol.7 (6), p.80-84

1996

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Germ-line mutations in the neurofibromatosis 2 gene : Correlations with disease severity and retinal abnormalities

American journal of human genetics, 1996-09, Vol.59 (3), p.529-539

1996

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Cellular, Molecular and Clinical Characterization of Patients with Hermansky–Pudlak Syndrome Type 5

Hermansky‐Pudlak syndrome type 1: gene organization, novel mutations, and clinical‐molecular review of non‐Puerto Rican cases

Keratopathy of Multiple Myeloma Masquerading as Corneal Crystals of Ocular Cystinosis

Use of nitisinone in patients with alkaptonuria

Nephropathic cystinosis : Posterior segment manifestations and effects of cysteamine therapy

Loss of heterozygosity for the NF2 gene in retinal and optic nerve lesions of patients with neurofibromatosis 2

Genetic Defects and Clinical Characteristics of Patients with a Form of Oculocutaneous Albinism (Hermansky–Pudlak Syndrome)

Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases

Hermansky-Pudlak Syndrome Type 3 in Ashkenazi Jews and Other Non–Puerto Rican Patients with Hypopigmentation and Platelet Storage-Pool Deficiency

Ocular nonnephropathic cystinosis : Clinical, biochemical, and molecular correlations

Milder ocular findings in Hermansky–Pudlak syndrome type 3 compared with Hermansky–Pudlak syndrome type 1

Pilot Trial of the Safety, Tolerability, and Retinoid Levels of N-(4-hydroxyphenyl) Retinamide in Combination With Tamoxifen in Patients at High Risk for Developing Invasive Breast Cancer

Age-Related Prevalence of Anterior Segment Complications in Patients With Infantile Nephropathic Cystinosis

Usher syndrome clinical types I and II: Could ocular symptoms and signs differentiate between the two types?

Correlation of visual acuity and ocular pigmentation with the 16-bp duplication in the HPS-1 gene of Hermansky-Pudlak syndrome, a form of albinism

Clinical Biochemical and Pathologic Correlations in Bietti's Crystalline Dystrophy

Evaluation of Visual Function Following Neodymium:YAG Laser Posterior Capsulotomy

Three New Mutations in a Gene Causing Hermansky–Pudlak Syndrome: Clinical Correlations

Neurofibromatosis 2 (NF2): Clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity

Classic nephropathic cystinosis as an adult disease

Use of an arginine-restricted diet to slow progression of visual loss in patients with gyrate atrophy

Corneal Crystals in Nephropathic Cystinosis: Natural History and Treatment with Cysteamine Eyedrops

Removal of corneal crystals by topical cysteamine in nephropathic cystinosis

Ocular manifestations of metabolic disorders

Germ-line mutations in the neurofibromatosis 2 gene : Correlations with disease severity and retinal abnormalities

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