Sample records for PHAENOTYP (phenotype)

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Barth, T.F.E.; Brüderlein, S.; Möller, P.

German National Library of Science and Technology (GetInfo) (German)


The Kallikrein-Related Peptidases hK2 and PSA with Emphasis on Genetic Variation, Secretion, and Sperm Motility

Sävblom, Charlotta

Prostate-specific antigen (PSA) and human glandular kallikrein 2 (hK2) are secreted by the prostate into seminal plasma and through leakage into blood. This leakage increases rapidly in prostate disease, and PSA is used worldwide as a marker of prostate cancer. PSA is activated in vitro by hK2, and ...

DRIVER (German)


Spinocerebellar ataxia types 1, 2, 3, and 6 - Disease severity and nonataxia symptoms

Schmitz-Hubsch, T; Coudert, M; Bauer, P; Giunti, P; Globas, C; Baliko, L; Filla, A; Mariotti, C; Rakowicz, M; Charles, P

Objective: To identify factors that determine disease severity and clinical phenotype of the most common spinocerebellar ataxias (SCAs), we studied 526 patients with SCA1, SCA2, SCA3. or SCA6.Methods: To measure the severity of ataxia we used the Scale for the Assessment and Rating of Ataxia ( SARA)...

DRIVER (German)


Somatic intragenic recombination within the mutated locus BLM can correct the high sister-chromatid exchange phenotype of Bloom syndrome cells.

Alhadeff, B; Ellis, N A; Proytcheva, M; Lennon, D J; Henderson, E E; German, J

Cells from persons with Bloom syndrome feature an elevated rate of sister-chromatid exchange (SCE). However, in some affected persons a minority of blood lymphocytes have a normal SCE rate. Persons who inherit the Bloom syndrome gene BLM identical by descent from a common ancestor very rarely exhibi...

DRIVER (German)


Molekulare Analyse von Tumorsuppressorgen-Kandidaten auf Chromosom 10 in Tumoren des Nervensystems

Köhler, Benjamin

Deletionen des Chromosoms 10 stellen eine häufige Veränderung in unterschiedlichen Tumoren des Nervensystems dar. Sie finden sich u.a. in der Mehrzahl der Glioblastome, aber auch in Subgruppen von atypischen und anaplastischen Meningeomen sowie Medulloblastomen. Der häufige Verlust von genetischem M...

DRIVER (German)


A novel keratin 12 mutation in a German kindred with Meesmann's corneal dystrophy

Rochels, R; Corden, L; Swensson, B; Swensson, O; Wannke, B; Thiel, H; McLean, W

AIM—To study a kindred with Meesmann's corneal dystrophy (MCD) to determine if a mutation within the cornea specific K3 or K12 genes is responsible for the disease phenotype. METHODS—Slit lamp examination of the cornea in four members of the kindred was carried out to confirm the diagnosis of MCD. T...

DRIVER (German)