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SICKLE-CELL ANEMIA [4 records]
Record 1 - internal organization data 2012-01-18
Record 1, English
Record 1, Subject field(s)
- Genetics
- Molecular Biology
Record 1, Main entry term, English
- recessive gene
1, record 1, English, recessive%20gene
correct
Record 1, Abbreviations, English
Record 1, Synonyms, English
Record 1, Textual support, English
Record number: 1, Textual support number: 1 DEF
A gene that will produce an effect in the organism only when it is transmitted by both parents. 2, record 1, English, - recessive%20gene
Record number: 1, Textual support number: 1 OBS
The gene for Huntington's disease is dominant. Anyone who carries it eventually develops the disease. But not all genetic disorders are so clear-cut. The genes for cystic fibrosis and sickle-cell anemia, for instance, are recessive : it takes two copies, one from each parent, to produce the disease. If both your parents carry the gene, you have one chance in four of developing the disease. 3, record 1, English, - recessive%20gene
Record 1, French
Record 1, Domaine(s)
- Génétique
- Biologie moléculaire
Record 1, Main entry term, French
- gène récessif
1, record 1, French, g%C3%A8ne%20r%C3%A9cessif
correct, masculine noun
Record 1, Abbreviations, French
Record 1, Synonyms, French
Record 1, Textual support, French
Record number: 1, Textual support number: 1 OBS
récessif : Se dit d'un gène (d'un allèle) ou de la mutation d'un gène qui, lorsqu'il est présent sous forme de copie unique dans le génome, ne se manifeste pas sous la forme d'un trait morphologique ou d'un syndrome clinique. 2, record 1, French, - g%C3%A8ne%20r%C3%A9cessif
Record 1, Spanish
Record 1, Campo(s) temático(s)
- Genética
- Biología molecular
Record 1, Main entry term, Spanish
- gen recesivo
1, record 1, Spanish, gen%20recesivo
correct, masculine noun
Record 1, Abbreviations, Spanish
Record 1, Synonyms, Spanish
Record 1, Textual support, Spanish
Record number: 1, Textual support number: 1 DEF
Gen que se manifiesta en ausencia del gen dominante, en los individuos diploides y heterozigotos. 2, record 1, Spanish, - gen%20recesivo
Record 2 - internal organization data 2011-01-18
Record 2, English
Record 2, Subject field(s)
- Biochemistry
- Genetics
Record 2, Main entry term, English
- human genetic disease
1, record 2, English, human%20genetic%20disease
correct
Record 2, Abbreviations, English
Record 2, Synonyms, English
Record 2, Textual support, English
Record number: 2, Textual support number: 1 CONT
... in the human genetic disease sickle-cell anemia, the oxygen-carrying hemoglobin molecule of the red blood cells is defective because in its synthesis 2 of the nearly 600 amino acid units of which hemoglobin is composed are the wrong kind. 1, record 2, English, - human%20genetic%20disease
Record 2, French
Record 2, Domaine(s)
- Biochimie
- Génétique
Record 2, Main entry term, French
- maladie génétique humaine
1, record 2, French, maladie%20g%C3%A9n%C3%A9tique%20humaine
correct, feminine noun
Record 2, Abbreviations, French
Record 2, Synonyms, French
Record 2, Textual support, French
Record number: 2, Textual support number: 1 CONT
[...] dans une maladie génétique humaine, l'anémie drépanocytaire; la molécule d'hémoglobine qui transporte l'oxygène dans les globules rouges est défectueuse parce qu'au cours de sa synthèse, 2 des 600 aminoacides qui constituent l'hémoglobine ne sont pas les aminoacides qui devraient normalement être présents. 1, record 2, French, - maladie%20g%C3%A9n%C3%A9tique%20humaine
Record 2, Spanish
Record 2, Campo(s) temático(s)
- Bioquímica
- Genética
Record 2, Main entry term, Spanish
- enfermedad genética humana
1, record 2, Spanish, enfermedad%20gen%C3%A9tica%20humana
correct, feminine noun
Record 2, Abbreviations, Spanish
Record 2, Synonyms, Spanish
Record 2, Textual support, Spanish
Record number: 2, Textual support number: 1 CONT
Los seres humanos tienen varias enfermedades genéticas, a menudo causadas por genes recesivos. Algunos ejemplos de enfermedades genéticas humanas son: el síndrome de Turner, la enfermedad de Huntington, el cáncer, el autismo y la anemia de células falciformes. 1, record 2, Spanish, - enfermedad%20gen%C3%A9tica%20humana
Record 3 - internal organization data 2003-05-15
Record 3, English
Record 3, Subject field(s)
- Genetics
Record 3, Main entry term, English
- dominant gene
1, record 3, English, dominant%20gene
correct
Record 3, Abbreviations, English
Record 3, Synonyms, English
Record 3, Textual support, English
Record number: 3, Textual support number: 1 OBS
The gene for Huntington's disease is dominant. Anyone who carries it eventually develops the disease. But not all genetic disorders are so clear-cut. The genes for cystic fibrosis and sickle-cell anemia, for instance, are recessive : it takes two copies, one from each parent, to produce the disease. If both your parents carry the gene, you have one chance in four of developing the disease. 2, record 3, English, - dominant%20gene
Record 3, French
Record 3, Domaine(s)
- Génétique
Record 3, Main entry term, French
- gène dominant
1, record 3, French, g%C3%A8ne%20dominant
correct, masculine noun
Record 3, Abbreviations, French
Record 3, Synonyms, French
Record 3, Textual support, French
Record number: 3, Textual support number: 1 OBS
[Quand on parle de dominance on parle d'un] type d'interaction entre deux gènes allèles dont l'un est qualifié de dominant et l'autre de récessif, qui aboutit pour l'hétérozygote à un phénotype plus ou moins semblable à celui de l'homozygote pour l'allèle dominant. 2, record 3, French, - g%C3%A8ne%20dominant
Record 3, Spanish
Record 3, Campo(s) temático(s)
- Genética
Record 3, Main entry term, Spanish
- gen dominante
1, record 3, Spanish, gen%20dominante
correct, masculine noun
Record 3, Abbreviations, Spanish
Record 3, Synonyms, Spanish
Record 3, Textual support, Spanish
Record 4 - internal organization data 1992-09-16
Record 4, English
Record 4, Subject field(s)
- Radiography (Medicine)
- Musculoskeletal System
Record 4, Main entry term, English
- tibiotalar slant
1, record 4, English, tibiotalar%20slant
correct
Record 4, Abbreviations, English
Record 4, Synonyms, English
Record 4, Textual support, English
Record number: 4, Textual support number: 1 DEF
An angled deformity of the tibiotalar joint due to asymmetrical growth of the distal tibial epiphysis. The medial aspect of the joint may be a half inch lower than the lateral articulating margin. Seen in hemophilia, juvenile rheumatoid arthritis, sickle-cell anemia, fracture, and multiple epiphyseal dysplasia. [From GBONE, 1980, p. 91 and EBONE, 1981, pp. 591, 601. ] 2, record 4, English, - tibiotalar%20slant
Record number: 4, Textual support number: 1 OBS
The tibiotalar slant may be a positioning artifact, caused by external rotation and elevation of the proximal tibia, if the central ray of the x-ray beam is not perpendicular. 3, record 4, English, - tibiotalar%20slant
Record 4, French
Record 4, Domaine(s)
- Radiographie (Médecine)
- Appareil locomoteur (Médecine)
Record 4, Main entry term, French
- bascule de l'articulation tibio-tarsienne
1, record 4, French, bascule%20de%20l%27articulation%20tibio%2Dtarsienne
correct, feminine noun
Record 4, Abbreviations, French
Record 4, Synonyms, French
Record 4, Textual support, French
Record number: 4, Textual support number: 1 DEF
Déformation en pente de l'articulation tibio-tarsienne liée à la croissance anormale de l'épiphyse tibiale. La surface interne de l'articulation se trouve plus basse que la surface articulaire externe. Les causes les plus fréquentes : hémophilie, arthrite chronique juvénile, drépanocytose, fracture et dysplasie polyépiphysaire. 2, record 4, French, - bascule%20de%20l%27articulation%20tibio%2Dtarsienne
Record number: 4, Textual support number: 1 OBS
À ne pas confondre avec un artefact résultant de la rotation externe et de l'élévation de la partie supérieure du tibia lorsque le rayon directeur n'est pas perpendiculaire au plan articulaire. 2, record 4, French, - bascule%20de%20l%27articulation%20tibio%2Dtarsienne
Record number: 4, Textual support number: 2 OBS
source d : EMSQU, 1990, A10, 31191, p. 3. 2, record 4, French, - bascule%20de%20l%27articulation%20tibio%2Dtarsienne
Record 4, Spanish
Record 4, Textual support, Spanish
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