Literature DB >> 12627297

The Finnish Disease Heritage III: the individual diseases.

Reijo Norio1.   

Abstract

This article is the third and last in a series entitled The Finnish Disease Heritage I-III. All the 36 rare hereditary diseases belonging to this entity are described for clinical and molecular genetic purposes, based on the Finnish experience gathered over a period of half a century. In addition, five other diseases are mentioned. They may be included in the list of the "Finnish diseases" after adequate complementary studies.

Entities:  

Mesh：

Year:  2003        PMID： 12627297     DOI： 10.1007/s00439-002-0877-1

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


  426 in total

1.  Magnetic resonance imaging analysis of hip joint development in patients with diastrophic dysplasia.

Authors:  Ville Remes; Pekka Tervahartiala; Ilkka Helenius; Jari Peltonen
Journal:  J Pediatr Orthop       Date:  2002 Mar-Apr       Impact factor: 2.324

2.  Visual acuity in 183 cases of X-chromosomal retinoschisis.

Authors:  H Forsius; U Krause; J Helve; V Vuopala; E Mustonen; B Vainio-Mattila; J Fellman; A W Eriksson
Journal:  Can J Ophthalmol       Date:  1973-07       Impact factor: 1.882

3.  [3 hereditary growth disorders].

Authors:  J Perheentupa
Journal:  Duodecim       Date:  1972

4.  Diastrophic dwarfism.

Authors:  B A Walker; C I Scott; J G Hall; J L Murdoch; V A McKusick
Journal:  Medicine (Baltimore)       Date:  1972-01       Impact factor: 1.889

5.  Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland.

Authors:  L Huopaniemi; A Rantala; H Forsius; M Somer; A de la Chapelle; T Alitalo
Journal:  Eur J Hum Genet       Date:  1999-04       Impact factor: 4.246

6.  Inherited selective intestinal cobalamin malabsorption and cobalamin deficiency in dogs.

Authors:  J C Fyfe; U Giger; C A Hall; P F Jezyk; S A Klumpp; J S Levine; D F Patterson
Journal:  Pediatr Res       Date:  1991-01       Impact factor: 3.756

7.  Pulmonary manifestations in lysinuric protein intolerance.

Authors:  K Parto; E Svedström; M L Majurin; R Härkönen; O Simell
Journal:  Chest       Date:  1993-10       Impact factor: 9.410

8.  Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A-->G mutation of the untranslated RMRP.

Authors:  Maaret Ridanpää; Pertti Sistonen; Susanna Rockas; David L Rimoin; Outi Mäkitie; Ilkka Kaitila
Journal:  Eur J Hum Genet       Date:  2002-07       Impact factor: 4.246

9.  Prenatal diagnosis of Batten's disease.

Authors:  P B Munroe; J Rapola; H M Mitchison; A Mustonen; S E Mole; R M Gardiner; I Jarvela
Journal:  Lancet       Date:  1996-04-13       Impact factor: 79.321

10.  Toward understanding the pathogenic mechanisms in gelsolin-related amyloidosis: in vitro expression reveals an abnormal gelsolin fragment.

Authors:  T Paunio; H Kangas; N Kalkkinen; M Haltia; J Palo; L Peltonen
Journal:  Hum Mol Genet       Date:  1994-12       Impact factor: 6.150
View more
  27 in total

1.  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

2.  The genome-wide patterns of variation expose significant substructure in a founder population.

Authors:  Eveliina Jakkula; Karola Rehnström; Teppo Varilo; Olli P H Pietiläinen; Tiina Paunio; Nancy L Pedersen; Ulf deFaire; Marjo-Riitta Järvelin; Juha Saharinen; Nelson Freimer; Samuli Ripatti; Shaun Purcell; Andrew Collins; Mark J Daly; Aarno Palotie; Leena Peltonen
Journal:  Am J Hum Genet       Date:  2008-12       Impact factor: 11.025

3.  Genetic markers and population history: Finland revisited.

Authors:  Jukka U Palo; Ismo Ulmanen; Matti Lukka; Pekka Ellonen; Antti Sajantila
Journal:  Eur J Hum Genet       Date:  2009-04-15       Impact factor: 4.246

4.  Of founder populations, long QT syndrome, and destiny.

Authors:  Paul A Brink; Peter J Schwartz
Journal:  Heart Rhythm       Date:  2009-09-03       Impact factor: 6.343

5.  Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.

Authors:  Choudhary Sonal; McLeod Michael; Torchia Daniele; Romanelli Paolo
Journal:  J Clin Aesthet Dermatol       Date:  2012-12

6.  Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts.

Authors:  Anne Polvi; Tarja Linnankivi; Tero Kivelä; Riitta Herva; James P Keating; Outi Mäkitie; Davide Pareyson; Leena Vainionpää; Jenni Lahtinen; Iiris Hovatta; Helena Pihko; Anna-Elina Lehesjoki
Journal:  Am J Hum Genet       Date:  2012-03-01       Impact factor: 11.025

Review 7.  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

8.  Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene.

Authors:  Stephan M Tanner; Zhongyuan Li; James D Perko; Cihan Oner; Mualla Cetin; Cigdem Altay; Zekiye Yurtsever; Karen L David; Laurence Faivre; Essam A Ismail; Ralph Gräsbeck; Albert de la Chapelle
Journal:  Proc Natl Acad Sci U S A       Date:  2005-02-28       Impact factor: 11.205

9.  Extended haplotypes in the growth hormone releasing hormone receptor gene (GHRHR) are associated with normal variation in height.

Authors:  Asa Johansson; Inger Jonasson; Ulf Gyllensten
Journal:  PLoS One       Date:  2009-02-11       Impact factor: 3.240

10.  SLC26A2-Associated Diastrophic Dysplasia and rMED-Clinical Features in Affected Finnish Children and Review of the Literature.

Authors:  Helmi Härkönen; Petra Loid; Outi Mäkitie
Journal:  Genes (Basel)       Date:  2021-05-11       Impact factor: 4.096
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.