David G Brooks
Affiliation: University of Pennsylvania
- Ferritin crystal cataracts in hereditary hyperferritinemia cataract syndromeDavid G Brooks
Division of Medical Genetics, Department of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
Invest Ophthalmol Vis Sci 43:1121-6. 2002..HHCS was diagnosed in this study in one of the first families known to be affected in the United States, and the basis of lens opacities in HHCS was determined...
- The neurofibromatoses: hereditary predisposition to multiple peripheral nerve tumorsDavid G Brooks
Division of Medical Genetics, University of Pennsylvania, 3400 Spruce Street, Room 538, Maloney Building, Philadelphia, PA 19104 5238, USA
Neurosurg Clin N Am 15:145-55. 2004..Genetic counseling and testing have an important role in the diagnosis of NFI and NF2 as well as in the management of all the neurofibromatoses...
- Macular degeneration in a patient with aceruloplasminemia, a disease associated with retinal iron overloadJoshua L Dunaief
F M Kirby Center for Molecular Ophthalmology, Philadelphia, Pennsylvania, USA
Ophthalmology 112:1062-5. 2005..To provide the first ophthalmic case report of a Caucasian patient with the rare autosomal recessive disease aceruloplasminemia, which results in iron overload in the retina, brain, and pancreas...
- Increased IRP1 activity in Friedreich ataxiaLioba Lobmayr
University of Pennsylvania School of Medicine, Department of Pathology and Laboratory Medicine, Room 509A, Stellar-Chance Laboratories, 422 Curie Blvd, Philadelphia, PA 19104, USA
Gene 354:157-61. 2005..Our data suggest an impaired adaptive response to iron accumulation in FRDA cells...
- Decreased serum ferritin is associated with alopecia in womenJonathan Kantor
Department of Dermatology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA
J Invest Dermatol 121:985-8. 2003..33]) and alopecia areata totalis/universalis (52.3 [23.1, 81.5]) were not significantly lower than in normals. Our findings have implications regarding therapeutics, clinical trial design, and understanding the triggers for alopecia...
- A new locus for autosomal dominant cataract on chromosome 19: linkage analyses and screening of candidate genesJ Bronwyn Bateman
Department of Ophthalmology, Rocky Mountain Lions Eye Institute, Denver, CO 80045, USA
Invest Ophthalmol Vis Sci 47:3441-9. 2006..To map and identify the mutated gene for autosomal dominant cataract (ADC) in family ADC4...
- Mitotic recombination as evidence of alternative pathogenesis of gastrointestinal stromal tumours in neurofibromatosis type 1Douglas R Stewart
J Med Genet 44:e61. 2007..We hypothesise that the LOH of NF1 and lack of KIT and PDGFRA mutations are evidence of an alternative pathogenesis in NF1-associated GISTs...
- RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disordersF Brancati
Istituto di Ricovero e Cura a Carattere Scientifico, CSS Mendel Institute, Rome, Italy
Clin Genet 74:164-70. 2008..Conversely, no pathogenic changes were found in patients with other JSRD phenotypes, suggesting that RPGRIP1L mutations are largely confined to the cerebello-renal subgroup, while they overall represent a rare cause of JSRD (<2%)...