Literature DB >> 8230163

Disease gene mapping in isolated human populations: the example of Finland.

A de la Chapelle1.   

Abstract

Entities:  

Mesh：

Year:  1993        PMID： 8230163      PMCID： PMC1016570          DOI： 10.1136/jmg.30.10.857

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


× No keyword cloud information.
  40 in total

1.  Refined localization of the gene causing X-linked juvenile retinoschisis.

Authors:  T Alitalo; T A Kruse; A de la Chapelle
Journal:  Genomics       Date:  1991-03       Impact factor: 5.736

Review 2.  Genes, peoples and languages.

Authors:  L L Cavalli-Sforza
Journal:  Sci Am       Date:  1991-11       Impact factor: 2.142

3.  Finnish hereditary amyloidosis is caused by a single nucleotide substitution in the gelsolin gene.

Authors:  C P Maury; J Kere; R Tolvanen; A de la Chapelle
Journal:  FEBS Lett       Date:  1990-12-10       Impact factor: 4.124

4.  Cystic fibrosis in Finland: a molecular and genealogical study.

Authors:  J Kere; R Norio; E Savilahti; X Estivill; A de la Chapelle
Journal:  Hum Genet       Date:  1989-08       Impact factor: 4.132

5.  Familial systemic paramyloidosis with lattice dystrophy of the cornea, progressive cranial neuropathy, skin changes and various internal symptoms. A previously unrecognized heritable syndrome.

Authors:  J Meretoja
Journal:  Ann Clin Res       Date:  1969-12

6.  Identification of mutations in Danish choroideremia families.

Authors:  M Schwartz; T Rosenberg; J A van den Hurk; D J van de Pol; F P Cremers
Journal:  Hum Mutat       Date:  1993       Impact factor: 4.878

7.  Choroideremia. A clinical and genetic study of 84 Finnish patients and 126 female carriers.

Authors:  J Kärnä
Journal:  Acta Ophthalmol Suppl       Date:  1986

8.  High prevalence of aspartylglycosaminuria among school-age children in eastern Finland.

Authors:  T Mononen; I Mononen; R Matilainen; E Airaksinen
Journal:  Hum Genet       Date:  1991-07       Impact factor: 4.132

9.  Aberrant splicing of the CHM gene is a significant cause of choroideremia.

Authors:  E M Sankila; R Tolvanen; J A van den Hurk; F P Cremers; A de la Chapelle
Journal:  Nat Genet       Date:  1992-05       Impact factor: 38.330

10.  At least two mutant alleles of ornithine delta-aminotransferase cause gyrate atrophy of the choroid and retina in Finns.

Authors:  G A Mitchell; L C Brody; I Sipila; J E Looney; C Wong; J F Engelhardt; A S Patel; G Steel; C Obie; M Kaiser-Kupfer
Journal:  Proc Natl Acad Sci U S A       Date:  1989-01       Impact factor: 11.205
View more
  97 in total

1.  Phylogenetic network of the mtDNA haplogroup U in Northern Finland based on sequence analysis of the complete coding region by conformation-sensitive gel electrophoresis.

Authors:  S Finnilä; I E Hassinen; L Ala-Kokko; K Majamaa
Journal:  Am J Hum Genet       Date:  2000-03       Impact factor: 11.025

2.  Data mining applied to linkage disequilibrium mapping.

Authors:  H T Toivonen; P Onkamo; K Vasko; V Ollikainen; P Sevon; H Mannila; M Herr; J Kere
Journal:  Am J Hum Genet       Date:  2000-06-09       Impact factor: 11.025

3.  Genomewide linkage analysis of celiac disease in Finnish families.

Authors:  Jianjun Liu; Suh-Hang Juo; Päivi Holopainen; Joseph Terwilliger; Xiaomei Tong; Adina Grunn; Miguel Brito; Peter Green; Kirsi Mustalahti; Markku Mäki; T Conrad Gilliam; Jukka Partanen
Journal:  Am J Hum Genet       Date:  2001-11-19       Impact factor: 11.025

4.  Genomewide scans of complex human diseases: true linkage is hard to find.

Authors:  J Altmüller; L J Palmer; G Fischer; H Scherb; M Wjst
Journal:  Am J Hum Genet       Date:  2001-09-14       Impact factor: 11.025

5.  Two common forms of the human MLH1 gene may be associated with functional differences.

Authors:  P Hutter; A Couturier; C Rey-Berthod
Journal:  J Med Genet       Date:  2000-10       Impact factor: 6.318

6.  Similarities in the epidemiology of neural tube defects and coronary heart disease: is homocysteine the missing link?

Authors:  D H Stone; P McCarron; G D Smith
Journal:  J Epidemiol Community Health       Date:  1999-12       Impact factor: 3.710

Review 7.  On the applicability of a haplotype map to un-assayed populations.

Authors:  Itsik Pe'er; Jacques S Beckmann
Journal:  Hum Genet       Date:  2003-10-25       Impact factor: 4.132

8.  Combined analysis of genome scans of dutch and finnish families reveals a susceptibility locus for high-density lipoprotein cholesterol on chromosome 16q.

Authors:  Päivi Pajukanta; Hooman Allayee; Kelly L Krass; Ali Kuraishy; Aino Soro; Heidi E Lilja; Rebecca Mar; Marja-Riitta Taskinen; Ilpo Nuotio; Markku Laakso; Jerome I Rotter; Tjerk W A de Bruin; Rita M Cantor; Aldons J Lusis; Leena Peltonen
Journal:  Am J Hum Genet       Date:  2003-03-12       Impact factor: 11.025

9.  2002 William Allen Award address. Introductory speech for Albert de la Chapelle.

Authors:  Janet D Rowley
Journal:  Am J Hum Genet       Date:  2003-02       Impact factor: 11.025

10.  PALB2 variants in hereditary and unselected Finnish prostate cancer cases.

Authors:  Sanna Pakkanen; Tiina Wahlfors; Sanna Siltanen; Mimmi Patrikainen; Mika P Matikainen; Teuvo L J Tammela; Johanna Schleutker
Journal:  J Negat Results Biomed       Date:  2009-12-15
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.