Literature DB >> 9915936

1998 ASHG presidential address. Making genomic medicine a reality.

A L Beaudet1.   

Abstract

Mesh:

Year:  1999        PMID: 9915936      PMCID: PMC1377695          DOI: 10.1086/302217

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN: 0002-9297            Impact factor:   11.025


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  31 in total

1.  A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis.

Authors:  J N Feder; A Gnirke; W Thomas; Z Tsuchihashi; D A Ruddy; A Basava; F Dormishian; R Domingo; M C Ellis; A Fullan; L M Hinton; N L Jones; B E Kimmel; G S Kronmal; P Lauer; V K Lee; D B Loeb; F A Mapa; E McClelland; N C Meyer; G A Mintier; N Moeller; T Moore; E Morikang; C E Prass; L Quintana; S M Starnes; R C Schatzman; K J Brunke; D T Drayna; N J Risch; B R Bacon; R K Wolff
Journal:  Nat Genet       Date:  1996-08       Impact factor: 38.330

2.  Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus.

Authors:  N Vionnet; M Stoffel; J Takeda; K Yasuda; G I Bell; H Zouali; S Lesage; G Velho; F Iris; P Passa
Journal:  Nature       Date:  1992-04-23       Impact factor: 49.962

3.  Clinical features and lung function in 18-year-old adolescents with alpha 1-antitrypsin deficiency.

Authors:  T Sveger; E Piitulainen; M Arborelius
Journal:  Acta Paediatr       Date:  1995-07       Impact factor: 2.299

4.  Natural history and life expectancy in severe alpha1-antitrypsin deficiency, Pi Z.

Authors:  C Larsson
Journal:  Acta Med Scand       Date:  1978

5.  Heart attacks: gone with the century?

Authors:  M S Brown; J L Goldstein
Journal:  Science       Date:  1996-05-03       Impact factor: 47.728

6.  On being an individual, or: the man in the red hat.

Authors:  C R Scriver
Journal:  Ciba Found Symp       Date:  1979 Jun 27-29

7.  Mutation in the gene coding for coagulation factor V and the risk of myocardial infarction, stroke, and venous thrombosis in apparently healthy men.

Authors:  P M Ridker; C H Hennekens; K Lindpaintner; M J Stampfer; P R Eisenberg; J P Miletich
Journal:  N Engl J Med       Date:  1995-04-06       Impact factor: 91.245

8.  Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease.

Authors:  T Attié; A Pelet; P Edery; C Eng; L M Mulligan; J Amiel; L Boutrand; C Beldjord; C Nihoul-Fékété; A Munnich
Journal:  Hum Mol Genet       Date:  1995-08       Impact factor: 6.150

9.  Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome).

Authors:  P Edery; T Attié; J Amiel; A Pelet; C Eng; R M Hofstra; H Martelli; C Bidaud; A Munnich; S Lyonnet
Journal:  Nat Genet       Date:  1996-04       Impact factor: 38.330

Review 10.  Molecular genetics of human blood pressure variation.

Authors:  R P Lifton
Journal:  Science       Date:  1996-05-03       Impact factor: 47.728

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  11 in total

1.  2002 William Allan Award Address. Inherited human diseases: victories, challenges, disappointments.

Authors:  Albert de la Chapelle
Journal:  Am J Hum Genet       Date:  2003-02       Impact factor: 11.025

Review 2.  [Genomic and molecular medicine].

Authors:  V S Baranov
Journal:  Mol Biol (Mosk)       Date:  2004 Jan-Feb

3.  The human genome project: a false dawn?. Interview by Judy Jones.

Authors:  R L Zimmern
Journal:  BMJ       Date:  1999-11-13

4.  Impact of genetic testing on complex diseases.

Authors:  M J E van Rijn; C M van Duijn; A J C Slooter
Journal:  Eur J Epidemiol       Date:  2005       Impact factor: 8.082

5.  Using the optimal receiver operating characteristic curve to design a predictive genetic test, exemplified with type 2 diabetes.

Authors:  Qing Lu; Robert C Elston
Journal:  Am J Hum Genet       Date:  2008-03       Impact factor: 11.025

Review 6.  Genomic medicine and neurological disease.

Authors:  Philip M Boone; Wojciech Wiszniewski; James R Lupski
Journal:  Hum Genet       Date:  2011-05-19       Impact factor: 4.132

7.  Improving the prediction of complex diseases by testing for multiple disease-susceptibility genes.

Authors:  Quanhe Yang; Muin J Khoury; Lorenzo Botto; J M Friedman; W Dana Flanders
Journal:  Am J Hum Genet       Date:  2003-02-14       Impact factor: 11.025

8.  Genetic Factors and Orofacial Clefting.

Authors:  Andrew C Lidral; Lina M Moreno; Steven A Bullard
Journal:  Semin Orthod       Date:  2008-06       Impact factor: 0.970

9.  Genomes, populations and diseases: ethnic genomics and personalized medicine.

Authors:  V A Stepanov
Journal:  Acta Naturae       Date:  2010-10       Impact factor: 1.845

10.  Genetics of asthma: a molecular biologist perspective.

Authors:  Amrendra Kumar; Balaram Ghosh
Journal:  Clin Mol Allergy       Date:  2009-05-06
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