Literature DB >> 12627295

Finnish Disease Heritage I: characteristics, causes, background.

Reijo Norio1.   

Abstract

This review of the Finnish Disease Heritage (FDH), a group of rare hereditary diseases that are overrepresented in Finland, includes the following topics: FDH characteristics, causes and background, primary theory, revis(it)ed theory, consanguineous marriages in Finland, internal migration of the 1500s, family series for further FDH studies, geography and population structure as a basis for FDH, geography of individual diseases, the structure of FDH families, family structure in individual diseases, Finnish gene mutations, linkage disequilibrium and haplotypes, age of gene mutations, frequencies of disease genes and carriers, and a short description of the possible future of FDH.

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Year:  2003        PMID: 12627295     DOI: 10.1007/s00439-002-0875-3

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  35 in total

1.  Inbreeding in Finland.

Authors:  L B Jorde; K J Pitkänen
Journal:  Am J Phys Anthropol       Date:  1991-02       Impact factor: 2.868

2.  Differential systematics.

Authors:  W H WOMBLE
Journal:  Science       Date:  1951-09-28       Impact factor: 47.728

3.  Linkage disequilibrium mapping in isolated populations: the example of Finland revisited.

Authors:  A de la Chapelle; F A Wright
Journal:  Proc Natl Acad Sci U S A       Date:  1998-10-13       Impact factor: 11.205

4.  Refined mapping of the Cohen syndrome gene by linkage disequilibrium.

Authors:  J Kolehmainen; R Norio; S Kivitie-Kallio; E Tahvanainen; A de la Chapelle; A E Lehesjoki
Journal:  Eur J Hum Genet       Date:  1997 Jul-Aug       Impact factor: 4.246

5.  The occurrence of consanguineous marriages in Hungary.

Authors:  A Czeizel; L Bodnár; G Illei; A Molnár
Journal:  Hum Hered       Date:  1976       Impact factor: 0.444

6.  Age and origin of two common MLH1 mutations predisposing to hereditary colon cancer.

Authors:  A L Moisio; P Sistonen; J Weissenbach; A de la Chapelle; P Peltomäki
Journal:  Am J Hum Genet       Date:  1996-12       Impact factor: 11.025

7.  [Hereditary diseases in Finland--from the clinician's and scientist's point of view].

Authors:  J Perheentupa
Journal:  Duodecim       Date:  1972

8.  Proteinuria and prenatal diagnosis of congenital nephrosis in fetal carriers of nephrin gene mutations.

Authors:  Jaakko Patrakka; Paula Martin; Riitta Salonen; Marjo Kestilä; Vesa Ruotsalainen; Minna Männikkö; Markku Ryynänen; Juhani Rapola; Christer Holmberg; Karl Tryggvason; Hannu Jalanko
Journal:  Lancet       Date:  2002-05-04       Impact factor: 79.321

9.  Association of parental consanguinity with decreased birth weight and increased rate of early death and congenital malformations.

Authors:  P Magnus; K Berg; T Bjerkedal
Journal:  Clin Genet       Date:  1985-10       Impact factor: 4.438

10.  Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland.

Authors:  J Hästbacka; A de la Chapelle; I Kaitila; P Sistonen; A Weaver; E Lander
Journal:  Nat Genet       Date:  1992-11       Impact factor: 38.330

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  39 in total

1.  Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport.

Authors:  Juha Kolehmainen; Graeme C M Black; Anne Saarinen; Kate Chandler; Jill Clayton-Smith; Ann-Liz Träskelin; Rahat Perveen; Satu Kivitie-Kallio; Reijo Norio; Mette Warburg; Jean-Pierre Fryns; Albert de la Chapelle; Anna-Elina Lehesjoki
Journal:  Am J Hum Genet       Date:  2003-05-02       Impact factor: 11.025

Review 2.  Mutations in human gonadotropin and gonadotropin-receptor genes.

Authors:  I T Huhtaniemi; A P N Themmen
Journal:  Endocrine       Date:  2005-04       Impact factor: 3.633

3.  Subpopulation difference scanning: a strategy for exclusion mapping of susceptibility genes.

Authors:  E Salmela; O Taskinen; J K Seppänen; P Sistonen; M J Daly; P Lahermo; M-L Savontaus; J Kere
Journal:  J Med Genet       Date:  2006-01-27       Impact factor: 6.318

4.  Consanguinity, endogamy, and genetic disorders in Tunisia.

Authors:  Nizar Ben Halim; Nissaf Ben Alaya Bouafif; Lilia Romdhane; Rym Kefi Ben Atig; Ibtissem Chouchane; Yosra Bouyacoub; Imen Arfa; Wafa Cherif; Sonia Nouira; Faten Talmoudi; Khaled Lasram; Sana Hsouna; Welid Ghazouani; Hela Azaiez; Leila El Matri; Abdelmajid Abid; Neji Tebib; Marie-Françoise Ben Dridi; Salem Kachboura; Ahlem Amouri; Mourad Mokni; Saida Ben Arab; Koussay Dellagi; Sonia Abdelhak
Journal:  J Community Genet       Date:  2012-12-04

5.  Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin.

Authors:  Anna H Hakonen; Silja Heiskanen; Vesa Juvonen; Ilse Lappalainen; Petri T Luoma; Maria Rantamaki; Gert Van Goethem; Ann Lofgren; Peter Hackman; Anders Paetau; Seppo Kaakkola; Kari Majamaa; Teppo Varilo; Bjarne Udd; Helena Kaariainen; Laurence A Bindoff; Anu Suomalainen
Journal:  Am J Hum Genet       Date:  2005-07-27       Impact factor: 11.025

Review 6.  The impact of recent population history on the deleterious mutation load in humans and close evolutionary relatives.

Authors:  Yuval B Simons; Guy Sella
Journal:  Curr Opin Genet Dev       Date:  2016-10-13       Impact factor: 5.578

7.  Screening of BCS1L mutations in severe neonatal disorders suspicious for mitochondrial cause.

Authors:  Vineta Fellman; Susanna Lemmelä; Antti Sajantila; Helena Pihko; Irma Järvelä
Journal:  J Hum Genet       Date:  2008-04-02       Impact factor: 3.172

8.  Delineation of Cohen syndrome following a large-scale genotype-phenotype screen.

Authors:  Juha Kolehmainen; Robert Wilkinson; Anna-Elina Lehesjoki; Kate Chandler; Satu Kivitie-Kallio; Jill Clayton-Smith; Ann-Liz Träskelin; Laura Waris; Anne Saarinen; Jabbar Khan; Varda Gross-Tsur; Elias I Traboulsi; Mette Warburg; Jean-Pierre Fryns; Reijo Norio; Graeme C M Black; Forbes D C Manson
Journal:  Am J Hum Genet       Date:  2004-05-12       Impact factor: 11.025

Review 9.  Genetics of Type 2 Diabetes: the Power of Isolated Populations.

Authors:  Mette Korre Andersen; Casper-Emil Tingskov Pedersen; Ida Moltke; Torben Hansen; Anders Albrechtsen; Niels Grarup
Journal:  Curr Diab Rep       Date:  2016-07       Impact factor: 4.810

10.  Role of MAPT mutations and haplotype in frontotemporal lobar degeneration in Northern Finland.

Authors:  Anna-Lotta Kaivorinne; Johanna Krüger; Katja Kuivaniemi; Hannu Tuominen; Virpi Moilanen; Kari Majamaa; Anne M Remes
Journal:  BMC Neurol       Date:  2008-12-17       Impact factor: 2.474

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