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MALADIE GENETIQUE [5 records]
Record 1 - internal organization data 2011-07-04
Record 1, English
Record 1, Subject field(s)
- Genetics
Record 1, Main entry term, English
- triplet expansion genetic disease
1, record 1, English, triplet%20expansion%20genetic%20disease
correct
Record 1, Abbreviations, English
Record 1, Synonyms, English
Record 1, Textual support, English
Record 1, French
Record 1, Domaine(s)
- Génétique
Record 1, Main entry term, French
- maladie génétique à expansion de triplets
1, record 1, French, maladie%20g%C3%A9n%C3%A9tique%20%C3%A0%20expansion%20de%20triplets
correct, feminine noun
Record 1, Abbreviations, French
Record 1, Synonyms, French
Record 1, Textual support, French
Record number: 1, Textual support number: 1 CONT
Les graves maladies génétiques à expansion de triplets sont dues à une expansion de microsatellites particuliers, le plus souvent des polymères de CAG ou de CGG, ou d'autres triplets de base. On connaît maintenant onze maladies causées par l'expansion de ces microsatellites. Ce sont des maladies dégénératives du système nerveux. 1, record 1, French, - maladie%20g%C3%A9n%C3%A9tique%20%C3%A0%20expansion%20de%20triplets
Record 1, Spanish
Record 1, Campo(s) temático(s)
- Genética
Record 1, Main entry term, Spanish
- enfermedad genética por expansión de tripletes
1, record 1, Spanish, enfermedad%20gen%C3%A9tica%20por%20expansi%C3%B3n%20de%20tripletes
correct, feminine noun
Record 1, Abbreviations, Spanish
Record 1, Synonyms, Spanish
Record 1, Textual support, Spanish
Record number: 1, Textual support number: 1 OBS
Son varias las afecciones neurológicas, neurodegenerativas y neuromusculares causadas por expansión de tripletes. [...] Estas expansiones de tripletes de ADN se caracterizan por ser dinámicas entre los tejidos y a través de las generaciones. El patrón de herencia y la inestabilidad en el tejido son determinados por los elementos cis y trans-actuantes presentes en ese momento. Aunque cada enfermedad en particular es causada por una mutación en un locus diferente, varias características son comunes en este grupo de trastornos. 2, record 1, Spanish, - enfermedad%20gen%C3%A9tica%20por%20expansi%C3%B3n%20de%20tripletes
Record 2 - internal organization data 2011-05-09
Record 2, English
Record 2, Subject field(s)
- Genetics
Record 2, Main entry term, English
- multifactorial disease
1, record 2, English, multifactorial%20disease
correct
Record 2, Abbreviations, English
Record 2, Synonyms, English
- polyfactorial disease 2, record 2, English, polyfactorial%20disease
correct, less frequent
- multifactorial genetic disease 3, record 2, English, multifactorial%20genetic%20disease
avoid, see observation
Record 2, Textual support, English
Record number: 2, Textual support number: 1 DEF
A disease arising from the interaction of genetic and nongenetic factors. 4, record 2, English, - multifactorial%20disease
Record number: 2, Textual support number: 1 OBS
multifactorial genetic disease: Since genetic factors, among others, always play a role in a multifactorial disease, the expression is pleonastic. 4, record 2, English, - multifactorial%20disease
Record 2, Key term(s)
- multi-factorial disease
- poly-factorial disease
Record 2, French
Record 2, Domaine(s)
- Génétique
Record 2, Main entry term, French
- maladie multifactorielle
1, record 2, French, maladie%20multifactorielle
correct, feminine noun
Record 2, Abbreviations, French
Record 2, Synonyms, French
- maladie plurifactorielle 2, record 2, French, maladie%20plurifactorielle
correct, feminine noun
- maladie polyfactorielle 3, record 2, French, maladie%20polyfactorielle
correct, feminine noun
- maladie génétique multifactorielle 4, record 2, French, maladie%20g%C3%A9n%C3%A9tique%20%20multifactorielle
avoid, see observation
Record 2, Textual support, French
Record number: 2, Textual support number: 1 DEF
Maladie où plusieurs facteurs (génétiques et non génétiques) entrent en jeu. 5, record 2, French, - maladie%20multifactorielle
Record number: 2, Textual support number: 1 OBS
L'asthme est une maladie plurifactorielle. 6, record 2, French, - maladie%20multifactorielle
Record number: 2, Textual support number: 2 OBS
maladie génétique multifactorielle : Il faut éviter d'utiliser cette expression, car par définition une maladie multifactorielle est nécessairement génétique. Il s'agit donc d'un pléonasme. 5, record 2, French, - maladie%20multifactorielle
Record 2, Key term(s)
- maladie pluri-factorielle
- maladie multi-factorielle
- maladie poly-factorielle
Record 2, Spanish
Record 2, Campo(s) temático(s)
- Genética
Record 2, Main entry term, Spanish
- enfermedad multifactorial
1, record 2, Spanish, enfermedad%20multifactorial
correct, feminine noun
Record 2, Abbreviations, Spanish
Record 2, Synonyms, Spanish
- enfermedad polifactorial 2, record 2, Spanish, enfermedad%20polifactorial
correct, feminine noun
Record 2, Textual support, Spanish
Record number: 2, Textual support number: 1 DEF
[Enfermedad] que es causada por la combinación de múltiples alelos genotípicos y de factores exógenos, tales como el ambiente o el estilo de vida. 1, record 2, Spanish, - enfermedad%20multifactorial
Record 3 - internal organization data 2011-01-18
Record 3, English
Record 3, Subject field(s)
- Biochemistry
- Genetics
Record 3, Main entry term, English
- human genetic disease
1, record 3, English, human%20genetic%20disease
correct
Record 3, Abbreviations, English
Record 3, Synonyms, English
Record 3, Textual support, English
Record number: 3, 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 3, English, - human%20genetic%20disease
Record 3, French
Record 3, Domaine(s)
- Biochimie
- Génétique
Record 3, Main entry term, French
- maladie génétique humaine
1, record 3, French, maladie%20g%C3%A9n%C3%A9tique%20humaine
correct, feminine noun
Record 3, Abbreviations, French
Record 3, Synonyms, French
Record 3, Textual support, French
Record number: 3, 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 3, French, - maladie%20g%C3%A9n%C3%A9tique%20humaine
Record 3, Spanish
Record 3, Campo(s) temático(s)
- Bioquímica
- Genética
Record 3, Main entry term, Spanish
- enfermedad genética humana
1, record 3, Spanish, enfermedad%20gen%C3%A9tica%20humana
correct, feminine noun
Record 3, Abbreviations, Spanish
Record 3, Synonyms, Spanish
Record 3, Textual support, Spanish
Record number: 3, 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 3, Spanish, - enfermedad%20gen%C3%A9tica%20humana
Record 4 - internal organization data 2008-11-18
Record 4, English
Record 4, Subject field(s)
- Human Diseases - Various
- Genetics
Record 4, Main entry term, English
- genetic disease
1, record 4, English, genetic%20disease
correct
Record 4, Abbreviations, English
Record 4, Synonyms, English
Record 4, Textual support, English
Record number: 4, Textual support number: 1 DEF
A disease caused by a mutation in a gene or a set of genes. 2, record 4, English, - genetic%20disease
Record 4, French
Record 4, Domaine(s)
- Maladies humaines diverses
- Génétique
Record 4, Main entry term, French
- maladie génétique
1, record 4, French, maladie%20g%C3%A9n%C3%A9tique
correct, feminine noun
Record 4, Abbreviations, French
Record 4, Synonyms, French
Record 4, Textual support, French
Record number: 4, Textual support number: 1 DEF
Maladie due à la déficience d'un ou de plusieurs gènes. 1, record 4, French, - maladie%20g%C3%A9n%C3%A9tique
Record 4, Spanish
Record 4, Campo(s) temático(s)
- Enfermedades humanas varias
- Genética
Record 4, Main entry term, Spanish
- enfermedad genética
1, record 4, Spanish, enfermedad%20gen%C3%A9tica
correct, feminine noun
Record 4, Abbreviations, Spanish
Record 4, Synonyms, Spanish
Record 4, Textual support, Spanish
Record 5 - internal organization data 1994-02-12
Record 5, English
Record 5, Subject field(s)
- Genetics
- Musculoskeletal System
Record 5, Main entry term, English
- genetically transmitted disease 1, record 5, English, genetically%20transmitted%20disease
Record 5, Abbreviations, English
Record 5, Synonyms, English
Record 5, French
Record 5, Domaine(s)
- Génétique
- Appareil locomoteur (Médecine)
Record 5, Main entry term, French
- maladie d’origine génétique
1, record 5, French, maladie%20d%26rsquo%3Borigine%20g%C3%A9n%C3%A9tique
correct, feminine noun
Record 5, Abbreviations, French
Record 5, Synonyms, French
- maladie génétiquement déterminée 2, record 5, French, maladie%20g%C3%A9n%C3%A9tiquement%20d%C3%A9termin%C3%A9e
correct, feminine noun
Record 5, Textual support, French
Record 5, Spanish
Record 5, Textual support, Spanish
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