+ Site Statistics
+ Search Articles
+ PDF Full Text Service
How our service works
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ Translate
+ Recently Requested

Phenotype versus genotype: is emerging methodology improving disease identification?

Phenotype versus genotype: is emerging methodology improving disease identification?

Clinica Chimica Acta; International Journal of Clinical Chemistry 257(2): 141-142

Please choose payment method:

(PDF emailed within 0-6 h: $19.90)

Accession: 046973718

Download citation: RISBibTeXText

PMID: 9118559

DOI: 10.1016/s0009-8981(96)06483-2

Related references

Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2. Human Mutation 34(4): 587-594, 2013

Von Willebrand disease - phenotype versus genotype: deficiency versus disease. Thrombosis Research 120(Suppl. 1): S11-S16, 2007

Gap junction mutations in skin disease and deafness Genotype versus phenotype. Journal of Medical Genetics 36(Suppl. 1): S25, 1999

Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease. Clinical Genetics 60(1): 46-51, 2001

Gaucher's disease: Identification of novel mutant alleles and genotype-phenotype relationships. Clinical Genetics 64(1): 57-64, 2003

Genotype-phenotype correlation in von Hippel-Lindau disease: identification of a mutation associated with VHL type 2A. Journal of Medical Genetics 33(8): 716-717, 1996

Identification of misdiagnosed fronto-temporal dementia using APOE genotype and phenotype-genotype correlation analyses. Current Alzheimer Research 11(2): 182-191, 2014

Identification of novel silent KEL alleles causing KEL?5 Ko phenotype or discordance between KEL1,?2 phenotype/KEL*01/02 genotype. 2013

Identification of novel silent KEL alleles causing KEL:-5 (Ko) phenotype or discordance between KEL:1,-2 phenotype/KEL*01/02 genotype. Transfusion 53(11 Suppl 2): 2859-2866, 2013

Identification of genes contributing to the obese yellow Avy phenotype: caloric restriction, genotype, diet x genotype interactions. Physiological Genomics 18(3): 316-324, 2004

APOE genotype and cholesterol levels in lewy body dementia and Alzheimer disease: investigating genotype-phenotype effect on disease risk. American Journal of Geriatric Psychiatry 14(12): 1022-1031, 2006

Identification of mutations, genotype-phenotype correlation and prenatal diagnosis of maple syrup urine disease in Indian patients. European Journal of Medical Genetics 58(9): 471-478, 2015

Genotype-phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype. Neuromuscular Disorders 9(3): 159-165, 1999

Identification of mutation c.632G>A (p.G211D) in the ATP2A2 gene and genotype-phenotype correlation in a large Chinese family with Darier's disease. International Journal of Dermatology 50(11): 1366-1370, 2011

Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses. American Journal of Human Genetics 61(2): 317-328, 1997