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..Gastrointestinal stromal tumours (GISTs) are mesenchymal tumours that commonly harbour oncogenic mutations in KIT or PDGFRA and are thought to arise from the interstitial cells of Cajal (ICC; the pacemaker cells of the gut)...
- 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%)...