David G Brooks

Summary

Affiliation: University of Pennsylvania
Country: USA

Publications

  1. ncbi request reprint Ferritin crystal cataracts in hereditary hyperferritinemia cataract syndrome
    David G Brooks
    Division of Medical Genetics, Department of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    Invest Ophthalmol Vis Sci 43:1121-6. 2002
  2. ncbi request reprint The neurofibromatoses: hereditary predisposition to multiple peripheral nerve tumors
    David 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
  3. ncbi request reprint Macular degeneration in a patient with aceruloplasminemia, a disease associated with retinal iron overload
    Joshua L Dunaief
    F M Kirby Center for Molecular Ophthalmology, Philadelphia, Pennsylvania, USA
    Ophthalmology 112:1062-5. 2005
  4. ncbi request reprint Increased IRP1 activity in Friedreich ataxia
    Lioba 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
  5. ncbi request reprint Decreased serum ferritin is associated with alopecia in women
    Jonathan Kantor
    Department of Dermatology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA
    J Invest Dermatol 121:985-8. 2003
  6. ncbi request reprint A new locus for autosomal dominant cataract on chromosome 19: linkage analyses and screening of candidate genes
    J Bronwyn Bateman
    Department of Ophthalmology, Rocky Mountain Lions Eye Institute, Denver, CO 80045, USA
    Invest Ophthalmol Vis Sci 47:3441-9. 2006
  7. pmc Mitotic recombination as evidence of alternative pathogenesis of gastrointestinal stromal tumours in neurofibromatosis type 1
    Douglas R Stewart
    J Med Genet 44:e61. 2007
  8. pmc RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders
    F Brancati
    Istituto di Ricovero e Cura a Carattere Scientifico, CSS Mendel Institute, Rome, Italy
    Clin Genet 74:164-70. 2008

Collaborators

  • Tim G St Pierre
  • John F Schenck
  • Alain Verloes
  • T S Aleman
  • Douglas R Stewart
  • R Koul
  • Robert Wilson
  • Dorit Lev
  • Enrico Bertini
  • A G Rajab
  • Shubha R Phadke
  • Robert Owens
  • J Bronwyn Bateman
  • Vincenzo Leuzzi
  • L Rigoli
  • Martino Ruggieri
  • Joshua Dunaief
  • Kathryn Swoboda
  • Loredana Boccone
  • F Brancati
  • Lioba Lobmayr
  • Jonathan Kantor
  • F Emma
  • Mattia Gentile
  • Ghada M H Abdel-Salam
  • Christopher A Walsh
  • Anna Maria Laverda
  • Elliot Sherr
  • B Dallapiccola
  • Roberta Battini
  • Clotilde Lagier-Tourenne
  • Stefania Bova
  • Pascale de Lonlay
  • Renaud Touraine
  • Andreas Janecke
  • Alberto Permunian
  • Henry Sanchez
  • Chong Ae Kim
  • Christopher Bennett
  • Sinan Comu
  • Heike Philippi
  • Raoul Hennekam
  • Maha S Zaki
  • E M Valente
  • Matloob Azam
  • Pasquale Parisi
  • Kenton Holden
  • Jane Hurst
  • Laila Bastaki
  • James Caldwell
  • Maria Roberta Cilio
  • Graziella Uziel
  • Kalpathy S Krishnamoorthy
  • Melissa Lees
  • Alice Abdel-Aleem
  • Alessandra Ferlini
  • Lihadh Al Gazali
  • Jin Hahn
  • Asma A Al-Tawari
  • Padraic Grattan-Smith
  • D Zablocka
  • C Geoffrey Woods
  • Jean Messer
  • E Boltshauser
  • Silvana Briuglia
  • Aldon E Clark
  • Bruria Ben-Zeev
  • Stefano D'Arrigo
  • Ignacio Pascual-Castroviejo
  • Gaetano Tortorella
  • Romaine Schubert
  • J L Silhavy
  • Bernard L Maria
  • Susana Quijano-Roy
  • Karin Dias
  • Tomas E Gallager
  • Maril├╣ Di Sabato
  • Carmelo D Salpietro
  • Gianluca Caridi
  • Daria Riva
  • Laszlo Sztriha
  • Rudy Van Coster
  • Carla Moco
  • P Accorsi
  • G Montagna
  • Hillary Raynes
  • Hulya Kayserili
  • Itxaso Marti
  • Marc D'Hooghe
  • Clara Barbot

Detail Information

Publications8

  1. ncbi request reprint Ferritin crystal cataracts in hereditary hyperferritinemia cataract syndrome
    David 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...
  2. ncbi request reprint The neurofibromatoses: hereditary predisposition to multiple peripheral nerve tumors
    David 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...
  3. ncbi request reprint Macular degeneration in a patient with aceruloplasminemia, a disease associated with retinal iron overload
    Joshua 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...
  4. ncbi request reprint Increased IRP1 activity in Friedreich ataxia
    Lioba 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...
  5. ncbi request reprint Decreased serum ferritin is associated with alopecia in women
    Jonathan 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...
  6. ncbi request reprint A new locus for autosomal dominant cataract on chromosome 19: linkage analyses and screening of candidate genes
    J 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...
  7. pmc Mitotic recombination as evidence of alternative pathogenesis of gastrointestinal stromal tumours in neurofibromatosis type 1
    Douglas 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)...
  8. pmc RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders
    F 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%)...