+ Resolve Article
+ Follow Us
Follow on FacebookFollow on Facebook
Follow on TwitterFollow on Twitter

+ Translate
+ Subscribe to Site Feed
GeoScience Most Shared ContentMost Shared Content

Accurate description of the phenotype: the clinician's contribution to the clarification of genotype-phenotype correlations

, : Accurate description of the phenotype: the clinician's contribution to the clarification of genotype-phenotype correlations. Orvosi Hetilap 147(23): 1059-1061

Utility of genomics in medical practice highly depends on the knowledge of genotype-phenotype correlations. So far, severity, natural course, drug-sensitivity, etc. belonging to a given mutation have been clarified in only a part of diseases. Concerning such research, the main difficulty is that the objectively determined genotype is often related to the more or less superficially or even subjectively described phenotype. Detailed, accurate, possibly objective recording of the clinical picture and the findings during follow-up by the clinician may make the protracted and heterogeneous collection of data much quicker and more reliable.


PMID: 16856507

Other references

Saleh, J.S., 1955: Rupture of a four month gravid rudimentary horn of a bicornate uterus. American Journal of Obstetrics and Gynecology 70(2): 426-427

Muthusamy, S.; Sithanantham, S.; Baskaran, T.L., 1975: Studies on incidence of smut in promising sugarcane varieties. Twelve cvs were assessed for their reaction to Ustilago scitaminea. All were resistant in the plant crop except Co.6512 which was highly susceptible in both plant and ratoon crops. Co.419, Co.1290, Co.6406 and Co.6411 were particularly susceptible...

Wald, G.; Griffin, D.R., 1947: The change in refractive power of the human eye in dim and bright light. In dim light, binoculars are habitually set slightly negative. 110 trials by 21 observers aged 17-30 yrs. with 3 types of binocular showed a wide range of individual variation, with avg. 0.54 diopter more negative in very dim light than in day lig...

Rodbell, Martin, 1954: Some aspects of lecithin metabolism in the liver. Dissertation Absts 14(11): 1911

Gibson, Alan., 2001: Common coots feeding wet feathers to young. British Birds. September; 949: 438

Peterson J.M.C., 1985: Birds of Little Sachigo Lake and Thorne-Sachigo Rivers, Ontario. Ontario Birds, 33: 87-99

Yager T.D.; Reuben M.A.; Ainpour P.R.; Wickstrom E., 1981: Molecular rulers with 5 or 11 prolines intra molecularly cross linked to g 45 of yeast phenyl alanine transfer rna. Febs Letters 133(1): 59-62

Tiews K., 1968: The german sandeel fishery in 1967. Annales Biologiques (Copenhagen) 24(1967): 196

Xin JiuQing; Gao YuLong;; Wang YanFan, 2004: Cloning and sequence analysis for the N-terminal domain of the lipoprotein LppQ of Mycoplasma mycoides subsp. mycoides SC. The lipoprotein LppQ gene is specific to Mycoplasma mycoides subsp. mycoides SC (MmmSC) and was found in field strains isolated in Europe, Africa, as well as in vaccine strains. The LppQ N-terminal domain possesses strong immunogenicity and induce...

Apolo, A.B.; Ostrovnaya, I.; Halabi, S.; Iasonos, A.; Philips, G.K.; Rosenberg, J.E.; Riches, J.; Small, E.J.; Milowsky, M.I.; Bajorin, D.F., 2013: Prognostic model for predicting survival of patients with metastatic urothelial cancer treated with cisplatin-based chemotherapy. A prognostic model that predicts overall survival (OS) for metastatic urothelial cancer (MetUC) patients treated with cisplatin-based chemotherapy was developed, validated, and compared with a commonly used Memorial Sloan-Kettering Cancer Center (...