{"_id":"kp63XZE25nwcYTFxW","bibbaseid":"marucci-menzaghi-dodesini-albizzi-acquafredda-fini-trischitta-paola-rareformsofmonogenicdiabetesinnoneuropeanindividualsfirstreportsofcelandrfx6mutationsfromtheindiansubcontinent-2024","author_short":["Marucci, A.","Menzaghi, C.","Dodesini, A. R.","Albizzi, M.","Acquafredda, A.","Fini, G.","Trischitta, V.","Paola, R. D."],"bibdata":{"bibtype":"article","type":"article","title":"Rare forms of monogenic diabetes in non-European individuals. First reports of CEL and RFX6 mutations from the Indian subcontinent","issn":"1432-5233","url":"https://doi.org/10.1007/s00592-024-02357-3","doi":"10.1007/s00592-024-02357-3","abstract":"Monogenic diabetes is one of the few examples in metabolic diseases in which a real precision medicine approach can be implemented in daily clinical work. Unfortunately, most of what is known today comes from studies in Whites, thus leaving much uncertainty about the genetics and the clinical presentation of monogenic diabetes in non-Europeans. To fill this gap, we report here two pedigrees from Bangladesh with CEL- and RFX6- diabetes, two rare types of monogenic diabetes which have never been described so far in individuals of the Indian subcontinent.","language":"en","urldate":"2024-08-30","journal":"Acta Diabetologica","author":[{"propositions":[],"lastnames":["Marucci"],"firstnames":["Antonella"],"suffixes":[]},{"propositions":[],"lastnames":["Menzaghi"],"firstnames":["Claudia"],"suffixes":[]},{"propositions":[],"lastnames":["Dodesini"],"firstnames":["Alessandro","Roberto"],"suffixes":[]},{"propositions":[],"lastnames":["Albizzi"],"firstnames":["Mascia"],"suffixes":[]},{"propositions":[],"lastnames":["Acquafredda"],"firstnames":["Angelo"],"suffixes":[]},{"propositions":[],"lastnames":["Fini"],"firstnames":["Grazia"],"suffixes":[]},{"propositions":[],"lastnames":["Trischitta"],"firstnames":["Vincenzo"],"suffixes":[]},{"propositions":[],"lastnames":["Paola"],"firstnames":["Rosa","Di"],"suffixes":[]}],"month":"August","year":"2024","keywords":"CEL-diabetes; RFX6-diabetes, DDM, Monogenic diabetes, Non-europeans, WES","bibtex":"@article{marucci_rare_2024,\n\ttitle = {Rare forms of monogenic diabetes in non-{European} individuals. {First} reports of {CEL} and {RFX6} mutations from the {Indian} subcontinent},\n\tissn = {1432-5233},\n\turl = {https://doi.org/10.1007/s00592-024-02357-3},\n\tdoi = {10.1007/s00592-024-02357-3},\n\tabstract = {Monogenic diabetes is one of the few examples in metabolic diseases in which a real precision medicine approach can be implemented in daily clinical work. Unfortunately, most of what is known today comes from studies in Whites, thus leaving much uncertainty about the genetics and the clinical presentation of monogenic diabetes in non-Europeans. To fill this gap, we report here two pedigrees from Bangladesh with CEL- and RFX6- diabetes, two rare types of monogenic diabetes which have never been described so far in individuals of the Indian subcontinent.},\n\tlanguage = {en},\n\turldate = {2024-08-30},\n\tjournal = {Acta Diabetologica},\n\tauthor = {Marucci, Antonella and Menzaghi, Claudia and Dodesini, Alessandro Roberto and Albizzi, Mascia and Acquafredda, Angelo and Fini, Grazia and Trischitta, Vincenzo and Paola, Rosa Di},\n\tmonth = aug,\n\tyear = {2024},\n\tkeywords = {CEL-diabetes; RFX6-diabetes, DDM, Monogenic diabetes, Non-europeans, WES},\n}\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n","author_short":["Marucci, A.","Menzaghi, C.","Dodesini, A. R.","Albizzi, M.","Acquafredda, A.","Fini, G.","Trischitta, V.","Paola, R. D."],"key":"marucci_rare_2024","id":"marucci_rare_2024","bibbaseid":"marucci-menzaghi-dodesini-albizzi-acquafredda-fini-trischitta-paola-rareformsofmonogenicdiabetesinnoneuropeanindividualsfirstreportsofcelandrfx6mutationsfromtheindiansubcontinent-2024","role":"author","urls":{"Paper":"https://doi.org/10.1007/s00592-024-02357-3"},"keyword":["CEL-diabetes; RFX6-diabetes","DDM","Monogenic diabetes","Non-europeans","WES"],"metadata":{"authorlinks":{}}},"bibtype":"article","biburl":"https://bibbase.org/zotero/SOPHiAGENETICS","dataSources":["Pcpsxmwz8uxXtL843"],"keywords":["cel-diabetes; rfx6-diabetes","ddm","monogenic diabetes","non-europeans","wes"],"search_terms":["rare","forms","monogenic","diabetes","non","european","individuals","first","reports","cel","rfx6","mutations","indian","subcontinent","marucci","menzaghi","dodesini","albizzi","acquafredda","fini","trischitta","paola"],"title":"Rare forms of monogenic diabetes in non-European individuals. First reports of CEL and RFX6 mutations from the Indian subcontinent","year":2024}