Genetic Homogeneity of Autoimmune Polyglandular Disease

'Department of Molecular Genetics, National Public Health Institute, and 2Children's Hospital, University of Helsinki, Helsinki; 3Department of Pediatrics, Schneider Children's Medical Center of Israel, Petach Tiqva; 4Clinica Pediatrica, Universita Degli Studi di Milano, Milan; 5Department of Clinical Genetics and Pediatrics, University Hospital, Uppsala; 6Kinderkliniken, Lehrkrankenhaus der Ludwig-MaximiliansUniversitat, Munich; 7Afdeling Kindergeneeskunde, Academisch Ziekenhuis Vrije Universiteit, Amsterdam; 'Assistance Publique Hospitaux de Paris, Hospital Saint Vincent de Paul, Paris; 9Department of Pediatrics, University of Bern, Bern; '0Kinderklinik, UniversitAt Freiburg, Freiburg; "Pediatric Endocrinology Unit, Karolinska Hospital, Stockholm; "3Endocrine Unit, Meir General Hospital, Kvar Saava, Israel; '2Laboratorio Genetica Molecolare, Istituto G. Gaslini, Genoa; "4Alder Hey Children's Hospital, Liverpool; "IL. Department of Pediatrics, Semmelweis University of Medicine, Budapest; and '6Department of Human Genetics, Hadassah Medical Organization, Jerusalem

[1]  J. Perheentupa.  Autoimmune Polyendocrinopathy - Candidiasis - Ectodermal Dystrophy (APECED) , 1996, Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme.

[2]  L. Peltonen,et al.  The age of human mutation: genealogical and linkage disequilibrium analysis of the CLN5 mutation in the Finnish population. , 1996, American journal of human genetics.

[3]  L. Peltonen,et al.  Linkage disequilibrium utilized to establish a refined genetic position of the Salla disease locus on 6q14-q15. , 1995, Genomics.

[4]  L. Peltonen,et al.  Random search for shared chromosomal regions in four affected individuals: the assignment of a new hereditary ataxia locus. , 1995, American journal of human genetics.

[5]  J. Terwilliger.  A powerful likelihood method for the analysis of linkage disequilibrium between trait loci and one or more polymorphic marker loci. , 1995, American journal of human genetics.

[6]  L. Peltonen,et al.  Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses. , 1994, American journal of human genetics.

[7]  Jurg Ott,et al.  Handbook of Human Genetic Linkage , 1994 .

[8]  L. Peltonen,et al.  An autosomal locus causing autoimmune disease: autoimmune polyglandular disease type I assigned to chromosome 21 , 1994, Nature Genetics.

[9]  E. Lander,et al.  Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: linkage disequilibrium allows high resolution mapping. , 1993, Human molecular genetics.

[10]  J. Blancato.  Mendelian inheritance in man: 10th edition. McKusik VA. Baltimore, Maryland: Johns Hopkins University Press; 1992.2320 pages in two volumes, $150 , 1993 .

[11]  N E Morton,et al.  Integration of gene maps: chromosome 21. , 1992, Proceedings of the National Academy of Sciences of the United States of America.

[12]  J. Zlotogora,et al.  Polyglandular autoimmune syndrome type I among Iranian Jews. , 1992, Journal of medical genetics.

[13]  I. Järvelä.  Infantile neuronal ceroid lipofuscinosis (CLN1): linkage disequilibrium in the Finnish population and evidence that variant late infantile form (variant CLN2) represents a nonallelic locus. , 1991, Genomics.

[14]  J. Perheentupa,et al.  Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a series of 68 patients. , 1990, The New England journal of medicine.

[15]  M. Lokki,et al.  The expression of autoimmune polyglandular disease type I appears associated with several HLA-A antigens but not with HLA-DR. , 1988, The Journal of clinical endocrinology and metabolism.

[16]  K. Mullis,et al.  Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction. , 1987, Methods in enzymology.

[17]  J. Ott,et al.  Strategies for multilocus linkage analysis in humans. , 1984, Proceedings of the National Academy of Sciences of the United States of America.

[18]  C. Mathew,et al.  Blot hybridisation analysis of genomic DNA. , 1984, Journal of medical genetics.

[19]  C. Carter.  Mendelian Inheritance in Man , 1967 .