Italian
Albanian
Arabic
Armenian
Azerbaijani
Belarusian
Bengali
Bosnian
Catalan
Czech
Danish
Deutsch
Dutch
English
Estonian
Finnish
Français
Greek
Haitian Creole
Hebrew
Hindi
Hungarian
Icelandic
Indonesian
Irish
Italian
Japanese
Korean
Latvian
Lithuanian
Macedonian
Mongolian
Norwegian
Persian
Polish
Portuguese
Romanian
Russian
Serbian
Slovak
Slovenian
Spanish
Swahili
Swedish
Turkish
Ukrainian
Vietnamese
Български
中文(简体)
中文(繁體)
coloboma/l cisteina
Il collegamento viene salvato negli appunti
5 risultati
A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma.
Solo gli utenti registrati possono tradurre articoli
Entra registrati
Ocular coloboma is a common eye malformation resulting from incomplete fusion of the optic fissure during development. Coloboma is often associated with microphthalmia and/or contralateral anophthalmia. Coloboma shows extensive locus heterogeneity associated with causative mutations identified in
Discordant phenotype in monozygotic twins with renal coloboma syndrome and a PAX2 mutation.
Solo gli utenti registrati possono tradurre articoli
Entra registrati
BACKGROUND
Renal coloboma syndrome (RCS) is a highly variable syndrome characterized by renal and ocular abnormalities. It is associated in about 50 % of cases with mutations of PAX2, a gene encoding a transcription factor required during development.
METHODS
The case study involves two monozygotic
New phenotype associated with an Arg116Cys mutation in the CRYAA gene: nuclear cataract, iris coloboma, and microphthalmia.
Solo gli utenti registrati possono tradurre articoli
Entra registrati
OBJECTIVE
To describe a new phenotype with an arginine-to-cysteine mutation at position 116 (Arg116Cys) in the CRYAA gene.
METHODS
We investigated a 4-generation French family with autosomal dominant cataract and performed a genetic linkage analysis using microsatellite DNA markers encompassing 15
Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits
Solo gli utenti registrati possono tradurre articoli
Entra registrati
Microphthalmia, coloboma and cataract are part of a spectrum of developmental eye disorders in humans affecting ~ 12 per 100 000 live births. Currently, variants in over 100 genes are known to underlie these conditions. However, at least 40% of affected individuals remain without a clinical genetic
CRIM1 haploinsufficiency causes defects in eye development in human and mouse.
Solo gli utenti registrati possono tradurre articoli
Entra registrati
Colobomatous macrophthalmia with microcornea syndrome (MACOM, Online Mendelian Inheritance in Man (OMIM) 602499) is an autosomal dominantly inherited malformation of the eye, which is characterized by microcornea with increased axial length, coloboma of the iris and of the optic disc, and severe
Il database di erbe medicinali più completo supportato dalla scienza
- Funziona in 55 lingue
- Cure a base di erbe sostenute dalla scienza
- Riconoscimento delle erbe per immagine
- Mappa GPS interattiva - tagga le erbe sul luogo (disponibile a breve)
- Leggi le pubblicazioni scientifiche relative alla tua ricerca
- Cerca le erbe medicinali in base ai loro effetti
- Organizza i tuoi interessi e tieniti aggiornato sulle notizie di ricerca, sperimentazioni cliniche e brevetti
Digita un sintomo o una malattia e leggi le erbe che potrebbero aiutare, digita un'erba e osserva le malattie ei sintomi contro cui è usata.
* Tutte le informazioni si basano su ricerche scientifiche pubblicate
