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The model has been followed for other conditions and has led to the establishment of a common infrastructure to enable advocacy groups to initiate, conduct and accelerate research. Collins, F.


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A vision for the future of genomics research. Nature , — Antonarakis, S. Mendelian disorders deserve more attention. Nature Rev. Groft, S. Retina 25 , S86 Sung, N. Central challenges facing the national clinical research enterprise. JAMA , — Kerner, J. Knowledge translation versus knowledge integration: a 'funder's' perspective. Health Prof. Riordan, J. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science , — Zitter, M. Managing drugs for rare diseases: trends and insights. Care 14 , 52—64 Merz, J.

Protecting subjects' interests in genetics research. Terry, S. Empowering the public to be informed consumers of genetic technologies and services. Margus, B.


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    Introduction

    Uitto, J. Le Saux, O. Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum. Nature Genet. Bergen, A. Mutations in ABCC6 cause pseudoxanthoma elasticum. Smith, R. The bst locus on mouse chromosome 16 is associated with age-related subretinal neovascularization. Natl Acad. USA 97 , — Marshall, E.

    Patient advocate named co-inventor on patent for the PXE disease gene. Science , Gheduzzi, D. The placenta in pseudoxanthoma elasticum: clinical, structural and immunochemical study. Placenta 22 , — A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.

    Evidence for a founder effect for pseudoxanthoma elasticum in the Afrikaner population of South Africa. Bercovitch, L. Re: Yellowish papules on flexural areas in a child. Mammographic findings in pseudoxanthoma elasticum. Extracutaneous ultrastructural alterations in pseudoxanthoma elasticum. Pregnancy and obstetrical outcomes in pseudoxanthoma elasticum. Pseudoxanthoma elasticum Bercovitch, R. Testicular microlithiasis in association with pseudoxanthoma elasticum.

    Radiology , — Eriksson, M. Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Eriksson, B. Kuehn, B. Gene discovery speeds progeria research. Interactive Guide to Developing Advocacy Organizations [online] , Pennsylvania, Philadelphia, Shickle, D. The consent problem within DNA biobanks. Allen, A.

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    Court decides tissue samples belong to university, not patients. The Advocates. Rodriguez-Viciana, P. Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. Light, D. No exit and the organization of voice in biotechnology and pharmaceuticals. Health Polit. Policy Law 28 , — Dresser, R. Public advocacy and allocation of federal funds for biomedical research. Milbank Q 77 , —, In the public interest: open access. Hadley, D. Genetic counseling and testing in families with hereditary nonpolyposis colorectal cancer.

    Nierras, C. Human embryonic stem cell research and the Juvenile Diabetes Research Foundation International — a work in progress. Diabetes 5 , S94—S98 Shak, S. Genentech and breast cancer advocacy.