Cover Image

Renal and extrarenal phenotypes in patients with HNF1B variants and chromosome 17q12 microdeletions

Introduction - Hepatocyte nuclear factor 1-beta (HNF1B) gene variants or the chromosome 17q12 deletion (17q12del) represent the most common monogenic cause of developmental kidney disease. Although neurodevelopmental disorders have been associated with the 17q12del, specific genotype-phenotype assoc...

Full description

Saved in:
Bibliographic Details
Main Authors: Buffin-Meyer, Bénédicte (Author) , Richard, Juliette (Author) , Guigonis, Vincent (Author) , Weber, Stefanie (Author) , König, Jens (Author) , Heidet, Laurence (Author) , Moussaoui, Nabila (Author) , Vu, Jeanne-Pierrette (Author) , Faguer, Stanislas (Author) , Casemayou, Audrey (Author) , Prakash, Richa (Author) , Baudouin, Véronique (Author) , Hogan, Julien (Author) , Alexandrou, Demi (Author) , Bockenhauer, Detlef (Author) , Bacchetta, Justine (Author) , Ranchin, Bruno (Author) , Pruhova, Stepanka (Author) , Zieg, Jakub (Author) , Lahoche, Annie (Author) , Okorn, Christine (Author) , Antal-Kónya, Violetta (Author) , Morin, Denis (Author) , Becherucci, Francesca (Author) , Habbig, Sandra (Author) , Liebau, Max C. (Author) , Mauras, Mathilde (Author) , Nijenhuis, Tom (Author) , Llanas, Brigitte (Author) , Mekahli, Djalila (Author) , Thumfart, Julia (Author) , Tönshoff, Burkhard (Author) , Massella, Laura (Author) , Eckart, Philippe (Author) , Cloarec, Sylvie (Author) , Cruz, Alejandro (Author) , Patzer, Ludwig (Author) , Roussey, Gwenaelle (Author) , Vrillon, Isabelle (Author) , Dunand, Olivier (Author) , Bessenay, Lucie (Author) , Taroni, Francesca (Author) , Zaniew, Marcin (Author) , Louillet, Ferielle (Author) , Bergmann, Carsten (Author) , Schaefer, Franz (Author) , van Eerde, Albertien M. (Author) , Schanstra, Joost P. (Author) , Decramer, Stéphane (Author) , Ariceta, Gema (Author) , Benetti, Elisa (Author) , Benz, Marcus R. (Author) , Bjerre, Anna (Author) , Boudailliez, Bernard R. (Author) , Bouts, Antonia (Author) , Drube, Jens (Author) , Gjerstad, Ann Christin (Author) , Jankauskiene, Augustina (Author) , Jávorszky, Eszter (Author) , Jay, Nadine (Author) , Kirschstein, Martin (Author) , Varda, Nataša Marčun (Author) , Niel, Olivier (Author) , Nobili, François (Author) , Pietrement, Christine (Author) , Ruzgiene, Dovile (Author) , Schild, Raphael (Author) , Staude, Hagen (Author) , Tory, Kálmán (Author) , Tsimaratos, Michel (Author) , Walden, Ulrike (Author) , Zappel, Hildegard (Author)
Format: Article (Journal)
Language:English
Published: August 2024
In: Kidney international. Reports
Year: 2024, Volume: 9, Issue: 8, Pages: 2514-2526
ISSN:2468-0249
DOI:10.1016/j.ekir.2024.05.007
Online Access:Verlag, kostenfrei, Volltext: https://doi.org/10.1016/j.ekir.2024.05.007
Verlag, kostenfrei, Volltext: https://www.sciencedirect.com/science/article/pii/S2468024924017157
Get full text
Author Notes:Bénédicte Buffin-Meyer, Juliette Richard, Vincent Guigonis, Stefanie Weber, Jens König, Laurence Heidet, Nabila Moussaoui, Jeanne-Pierrette Vu, Stanislas Faguer, Audrey Casemayou, Richa Prakash, Véronique Baudouin, Julien Hogan, Demi Alexandrou, Detlef Bockenhauer, Justine Bacchetta, Bruno Ranchin, Stepanka Pruhova, Jakub Zieg, Annie Lahoche, Christine Okorn, Violetta Antal-Kónya, Denis Morin, Francesca Becherucci, Sandra Habbig, Max C. Liebau, Mathilde Mauras, Tom Nijenhuis, Brigitte Llanas, Djalila Mekahli, Julia Thumfart, Burkhard Tönshoff, Laura Massella, Philippe Eckart, Sylvie Cloarec, Alejandro Cruz, Ludwig Patzer, Gwenaelle Roussey, Isabelle Vrillon, Olivier Dunand, Lucie Bessenay, Francesca Taroni, Marcin Zaniew, Ferielle Louillet, Carsten Bergmann, Franz Schaefer, Albertien M. van Eerde, Joost P. Schanstra, Stéphane Decramer, Gema Ariceta, Elisa Benetti, Marcus R. Benz, Anna Bjerre, Bernard R. Boudailliez, Antonia Bouts, Jens Drube, Ann Christin Gjerstad, Augustina Jankauskiene, Eszter Jávorszky, Nadine Jay, Martin Kirschstein, Nataša Marčun Varda, Olivier Niel, François Nobili, Christine Pietrement, Dovile Ruzgiene, Raphael Schild, Hagen Staude, Kálmán Tory, Michel Tsimaratos, Ulrike Walden, Hildegard Zappel, on behalf of the HNF1B variant study group

MARC

LEADER 00000caa a2200000 c 4500
001 1908401168
003 DE-627
005 20250325234941.0
007 cr uuu---uuuuu
008 241113s2024 xx |||||o 00| ||eng c
024 7 |a 10.1016/j.ekir.2024.05.007  |2 doi 
035 |a (DE-627)1908401168 
035 |a (DE-599)KXP1908401168 
035 |a (OCoLC)1475647345 
040 |a DE-627  |b ger  |c DE-627  |e rda 
041 |a eng 
084 |a 33  |2 sdnb 
100 1 |a Buffin-Meyer, Bénédicte  |e VerfasserIn  |0 (DE-588)1221404555  |0 (DE-627)1738673251  |4 aut 
245 1 0 |a Renal and extrarenal phenotypes in patients with HNF1B variants and chromosome 17q12 microdeletions  |c Bénédicte Buffin-Meyer, Juliette Richard, Vincent Guigonis, Stefanie Weber, Jens König, Laurence Heidet, Nabila Moussaoui, Jeanne-Pierrette Vu, Stanislas Faguer, Audrey Casemayou, Richa Prakash, Véronique Baudouin, Julien Hogan, Demi Alexandrou, Detlef Bockenhauer, Justine Bacchetta, Bruno Ranchin, Stepanka Pruhova, Jakub Zieg, Annie Lahoche, Christine Okorn, Violetta Antal-Kónya, Denis Morin, Francesca Becherucci, Sandra Habbig, Max C. Liebau, Mathilde Mauras, Tom Nijenhuis, Brigitte Llanas, Djalila Mekahli, Julia Thumfart, Burkhard Tönshoff, Laura Massella, Philippe Eckart, Sylvie Cloarec, Alejandro Cruz, Ludwig Patzer, Gwenaelle Roussey, Isabelle Vrillon, Olivier Dunand, Lucie Bessenay, Francesca Taroni, Marcin Zaniew, Ferielle Louillet, Carsten Bergmann, Franz Schaefer, Albertien M. van Eerde, Joost P. Schanstra, Stéphane Decramer, Gema Ariceta, Elisa Benetti, Marcus R. Benz, Anna Bjerre, Bernard R. Boudailliez, Antonia Bouts, Jens Drube, Ann Christin Gjerstad, Augustina Jankauskiene, Eszter Jávorszky, Nadine Jay, Martin Kirschstein, Nataša Marčun Varda, Olivier Niel, François Nobili, Christine Pietrement, Dovile Ruzgiene, Raphael Schild, Hagen Staude, Kálmán Tory, Michel Tsimaratos, Ulrike Walden, Hildegard Zappel, on behalf of the HNF1B variant study group 
246 3 0 |a one seventeen twelve 
264 1 |c August 2024 
300 |b Illustrationen 
300 |a 13 
336 |a Text  |b txt  |2 rdacontent 
337 |a Computermedien  |b c  |2 rdamedia 
338 |a Online-Ressource  |b cr  |2 rdacarrier 
500 |a Online verfügbar: 16. Mai 2024, Artikelversion: 2. August 2024 
500 |a Gesehen am 13.11.2024 
520 |a Introduction - Hepatocyte nuclear factor 1-beta (HNF1B) gene variants or the chromosome 17q12 deletion (17q12del) represent the most common monogenic cause of developmental kidney disease. Although neurodevelopmental disorders have been associated with the 17q12del, specific genotype-phenotype associations with respect to kidney function evolution have not yet been fully defined. Here, we aimed to determine whether 17q12del or specific HNF1B variants were associated with kidney survival in a large patient population with HNF1B disease. - Methods - This was a retrospective observational study involving 521 patients with HNF1B disease from 14 countries using the European Reference Network for rare kidney diseases with detailed information on the HNF1B genotype (HNF1B variants or the 17q12del). Median follow-up time was 11 years with 6 visits per patient. The primary end point was progression to chronic kidney disease (CKD) stage 3 (estimated glomerular filtration rate [eGFR] < 60 ml/min per 1.73 m2). Secondary end points were the development of hypomagnesemia or extrarenal disorders, including hyperuricemia and hyperglycemia. - Results - Progression toward CKD stage 3 was significantly delayed in patients with the 17q12del compared to patients with HNF1B variants (hazard ratio [HR]: 0.29, 95% confidence interval [CI]: 0.19-0.44, P < 0.001). Progression toward CKD stage 3 was also significantly delayed when HNF1B variants involved the HNF1B Pit-1, Oct-1, and Unc-86 homeodomain (POUh) DNA-binding and transactivation domains rather than the POU-specific domain (POUs) DNA-binding domain (HR: 0.15 [95% CI: 0.06-0.37), P < 0.001 and HR: 0.25 (95% CI: 0.11-0.57), P = 0.001, respectively). Finally, the 17q12del was positively associated with hypomagnesemia and negatively associated with hyperuricemia, but not with hyperglycemia. - Conclusion - Patients with the 17q12del display a significantly better kidney survival than patients with other HNF1B variants; and for the latter, variants in the POUs DNA-binding domain lead to the poorest kidney survival. These are clinically relevant HNF1B kidney genotype-phenotype correlations that inform genetic counseling. 
650 4 |a chronic kidney disease 
650 4 |a disease 
650 4 |a genotype-phenotype correlation 
650 4 |a outcome 
700 1 |a Richard, Juliette  |e VerfasserIn  |4 aut 
700 1 |a Guigonis, Vincent  |e VerfasserIn  |4 aut 
700 1 |a Weber, Stefanie  |e VerfasserIn  |4 aut 
700 1 |a König, Jens  |e VerfasserIn  |4 aut 
700 1 |a Heidet, Laurence  |e VerfasserIn  |4 aut 
700 1 |a Moussaoui, Nabila  |e VerfasserIn  |4 aut 
700 1 |a Vu, Jeanne-Pierrette  |e VerfasserIn  |4 aut 
700 1 |a Faguer, Stanislas  |e VerfasserIn  |4 aut 
700 1 |a Casemayou, Audrey  |e VerfasserIn  |4 aut 
700 1 |a Prakash, Richa  |e VerfasserIn  |4 aut 
700 1 |a Baudouin, Véronique  |e VerfasserIn  |4 aut 
700 1 |a Hogan, Julien  |e VerfasserIn  |4 aut 
700 1 |a Alexandrou, Demi  |e VerfasserIn  |4 aut 
700 1 |a Bockenhauer, Detlef  |e VerfasserIn  |4 aut 
700 1 |a Bacchetta, Justine  |e VerfasserIn  |4 aut 
700 1 |a Ranchin, Bruno  |e VerfasserIn  |0 (DE-588)1297429508  |0 (DE-627)1853772216  |4 aut 
700 1 |a Pruhova, Stepanka  |e VerfasserIn  |4 aut 
700 1 |a Zieg, Jakub  |e VerfasserIn  |4 aut 
700 1 |a Lahoche, Annie  |e VerfasserIn  |4 aut 
700 1 |a Okorn, Christine  |e VerfasserIn  |4 aut 
700 1 |a Antal-Kónya, Violetta  |e VerfasserIn  |4 aut 
700 1 |a Morin, Denis  |e VerfasserIn  |4 aut 
700 1 |a Becherucci, Francesca  |e VerfasserIn  |4 aut 
700 1 |a Habbig, Sandra  |e VerfasserIn  |4 aut 
700 1 |a Liebau, Max C.  |e VerfasserIn  |4 aut 
700 1 |a Mauras, Mathilde  |e VerfasserIn  |4 aut 
700 1 |a Nijenhuis, Tom  |e VerfasserIn  |4 aut 
700 1 |a Llanas, Brigitte  |e VerfasserIn  |4 aut 
700 1 |a Mekahli, Djalila  |e VerfasserIn  |4 aut 
700 1 |a Thumfart, Julia  |e VerfasserIn  |4 aut 
700 1 |a Tönshoff, Burkhard  |e VerfasserIn  |0 (DE-588)1032445823  |0 (DE-627)738463493  |0 (DE-576)173494196  |4 aut 
700 1 |a Massella, Laura  |e VerfasserIn  |4 aut 
700 1 |a Eckart, Philippe  |e VerfasserIn  |4 aut 
700 1 |a Cloarec, Sylvie  |e VerfasserIn  |4 aut 
700 1 |a Cruz, Alejandro  |e VerfasserIn  |4 aut 
700 1 |a Patzer, Ludwig  |e VerfasserIn  |4 aut 
700 1 |a Roussey, Gwenaelle  |e VerfasserIn  |4 aut 
700 1 |a Vrillon, Isabelle  |e VerfasserIn  |4 aut 
700 1 |a Dunand, Olivier  |e VerfasserIn  |4 aut 
700 1 |a Bessenay, Lucie  |e VerfasserIn  |4 aut 
700 1 |a Taroni, Francesca  |e VerfasserIn  |4 aut 
700 1 |a Zaniew, Marcin  |e VerfasserIn  |4 aut 
700 1 |a Louillet, Ferielle  |e VerfasserIn  |4 aut 
700 1 |8 1\p  |a Bergmann, Carsten  |d 1972-  |e VerfasserIn  |0 (DE-588)12276790X  |0 (DE-627)082143552  |0 (DE-576)293412812  |4 aut 
700 1 |a Schaefer, Franz  |d 1961-  |e VerfasserIn  |0 (DE-588)1023365383  |0 (DE-627)718365577  |0 (DE-576)366705598  |4 aut 
700 1 |a van Eerde, Albertien M.  |e VerfasserIn  |4 aut 
700 1 |a Schanstra, Joost P.  |e VerfasserIn  |4 aut 
700 1 |a Decramer, Stéphane  |e VerfasserIn  |4 aut 
700 1 |a Ariceta, Gema  |e VerfasserIn  |4 aut 
700 1 |a Benetti, Elisa  |e VerfasserIn  |4 aut 
700 1 |a Benz, Marcus R.  |e VerfasserIn  |4 aut 
700 1 |a Bjerre, Anna  |e VerfasserIn  |4 aut 
700 1 |a Boudailliez, Bernard R.  |e VerfasserIn  |4 aut 
700 1 |a Bouts, Antonia  |e VerfasserIn  |4 aut 
700 1 |a Drube, Jens  |e VerfasserIn  |4 aut 
700 1 |a Gjerstad, Ann Christin  |e VerfasserIn  |4 aut 
700 1 |a Jankauskiene, Augustina  |e VerfasserIn  |4 aut 
700 1 |a Jávorszky, Eszter  |e VerfasserIn  |4 aut 
700 1 |a Jay, Nadine  |e VerfasserIn  |4 aut 
700 1 |a Kirschstein, Martin  |e VerfasserIn  |4 aut 
700 1 |a Varda, Nataša Marčun  |e VerfasserIn  |4 aut 
700 1 |a Niel, Olivier  |e VerfasserIn  |4 aut 
700 1 |a Nobili, François  |e VerfasserIn  |4 aut 
700 1 |a Pietrement, Christine  |e VerfasserIn  |4 aut 
700 1 |a Ruzgiene, Dovile  |e VerfasserIn  |4 aut 
700 1 |a Schild, Raphael  |e VerfasserIn  |4 aut 
700 1 |a Staude, Hagen  |e VerfasserIn  |4 aut 
700 1 |a Tory, Kálmán  |e VerfasserIn  |4 aut 
700 1 |a Tsimaratos, Michel  |e VerfasserIn  |4 aut 
700 1 |a Walden, Ulrike  |e VerfasserIn  |4 aut 
700 1 |a Zappel, Hildegard  |e VerfasserIn  |4 aut 
773 0 8 |i Enthalten in  |t Kidney international. Reports  |d Amsterdam : Elsevier, 2016  |g 9(2024), 8 vom: Aug., Seite 2514-2526  |h Online-Ressource  |w (DE-627)881695580  |w (DE-600)2887223-X  |w (DE-576)485146266  |x 2468-0249  |7 nnas  |a Renal and extrarenal phenotypes in patients with HNF1B variants and chromosome 17q12 microdeletions 
773 1 8 |g volume:9  |g year:2024  |g number:8  |g month:08  |g pages:2514-2526  |g extent:13  |a Renal and extrarenal phenotypes in patients with HNF1B variants and chromosome 17q12 microdeletions 
856 4 0 |u https://doi.org/10.1016/j.ekir.2024.05.007  |x Verlag  |x Resolving-System  |z kostenfrei  |3 Volltext 
856 4 0 |u https://www.sciencedirect.com/science/article/pii/S2468024924017157  |x Verlag  |z kostenfrei  |3 Volltext 
883 |8 1\p  |a cgwrk  |d 20250301  |q DE-101  |u https://d-nb.info/provenance/plan#cgwrk 
951 |a AR 
992 |a 20241113 
993 |a Article 
994 |a 2024 
998 |g 1023365383  |a Schaefer, Franz  |m 1023365383:Schaefer, Franz  |d 910000  |d 910500  |d 50000  |e 910000PS1023365383  |e 910500PS1023365383  |e 50000PS1023365383  |k 0/910000/  |k 1/910000/910500/  |k 0/50000/  |p 46 
998 |g 1032445823  |a Tönshoff, Burkhard  |m 1032445823:Tönshoff, Burkhard  |d 910000  |d 910500  |d 50000  |e 910000PT1032445823  |e 910500PT1032445823  |e 50000PT1032445823  |k 0/910000/  |k 1/910000/910500/  |k 0/50000/  |p 32 
999 |a KXP-PPN1908401168  |e 4613777348 
BIB |a Y 
SER |a journal 
JSO |a {"type":{"bibl":"article-journal","media":"Online-Ressource"},"origin":[{"dateIssuedDisp":"August 2024","dateIssuedKey":"2024"}],"language":["eng"],"relHost":[{"part":{"pages":"2514-2526","extent":"13","year":"2024","issue":"8","volume":"9","text":"9(2024), 8 vom: Aug., Seite 2514-2526"},"physDesc":[{"extent":"Online-Ressource"}],"language":["eng"],"type":{"bibl":"periodical","media":"Online-Ressource"},"origin":[{"publisher":"Elsevier","dateIssuedDisp":"[2016]-","publisherPlace":"Amsterdam"}],"title":[{"partname":"Reports","title":"Kidney international","title_sort":"Kidney international"}],"id":{"issn":["2468-0249"],"eki":["881695580"],"zdb":["2887223-X"]},"note":["Gesehen am 23.06.20"],"disp":"Renal and extrarenal phenotypes in patients with HNF1B variants and chromosome 17q12 microdeletionsKidney international. Reports","pubHistory":["Volume 1, issue 1 (May 2016)-"],"titleAlt":[{"title":"KI reports"},{"title":"Kidney international reports"}],"recId":"881695580"}],"person":[{"given":"Bénédicte","display":"Buffin-Meyer, Bénédicte","role":"aut","roleDisplay":"VerfasserIn","family":"Buffin-Meyer"},{"given":"Juliette","role":"aut","display":"Richard, Juliette","family":"Richard","roleDisplay":"VerfasserIn"},{"family":"Guigonis","roleDisplay":"VerfasserIn","given":"Vincent","role":"aut","display":"Guigonis, Vincent"},{"family":"Weber","roleDisplay":"VerfasserIn","given":"Stefanie","role":"aut","display":"Weber, Stefanie"},{"given":"Jens","role":"aut","display":"König, Jens","family":"König","roleDisplay":"VerfasserIn"},{"family":"Heidet","roleDisplay":"VerfasserIn","given":"Laurence","role":"aut","display":"Heidet, Laurence"},{"family":"Moussaoui","roleDisplay":"VerfasserIn","given":"Nabila","display":"Moussaoui, Nabila","role":"aut"},{"display":"Vu, Jeanne-Pierrette","role":"aut","given":"Jeanne-Pierrette","family":"Vu","roleDisplay":"VerfasserIn"},{"family":"Faguer","roleDisplay":"VerfasserIn","given":"Stanislas","display":"Faguer, Stanislas","role":"aut"},{"family":"Casemayou","roleDisplay":"VerfasserIn","role":"aut","display":"Casemayou, Audrey","given":"Audrey"},{"family":"Prakash","roleDisplay":"VerfasserIn","given":"Richa","display":"Prakash, Richa","role":"aut"},{"given":"Véronique","role":"aut","display":"Baudouin, Véronique","roleDisplay":"VerfasserIn","family":"Baudouin"},{"family":"Hogan","roleDisplay":"VerfasserIn","given":"Julien","display":"Hogan, Julien","role":"aut"},{"roleDisplay":"VerfasserIn","family":"Alexandrou","given":"Demi","role":"aut","display":"Alexandrou, Demi"},{"given":"Detlef","role":"aut","display":"Bockenhauer, Detlef","roleDisplay":"VerfasserIn","family":"Bockenhauer"},{"role":"aut","display":"Bacchetta, Justine","given":"Justine","roleDisplay":"VerfasserIn","family":"Bacchetta"},{"given":"Bruno","display":"Ranchin, Bruno","role":"aut","family":"Ranchin","roleDisplay":"VerfasserIn"},{"family":"Pruhova","roleDisplay":"VerfasserIn","given":"Stepanka","display":"Pruhova, Stepanka","role":"aut"},{"role":"aut","display":"Zieg, Jakub","given":"Jakub","family":"Zieg","roleDisplay":"VerfasserIn"},{"family":"Lahoche","roleDisplay":"VerfasserIn","role":"aut","display":"Lahoche, Annie","given":"Annie"},{"role":"aut","display":"Okorn, Christine","given":"Christine","family":"Okorn","roleDisplay":"VerfasserIn"},{"display":"Antal-Kónya, Violetta","role":"aut","given":"Violetta","roleDisplay":"VerfasserIn","family":"Antal-Kónya"},{"given":"Denis","display":"Morin, Denis","role":"aut","family":"Morin","roleDisplay":"VerfasserIn"},{"display":"Becherucci, Francesca","role":"aut","given":"Francesca","family":"Becherucci","roleDisplay":"VerfasserIn"},{"given":"Sandra","role":"aut","display":"Habbig, Sandra","roleDisplay":"VerfasserIn","family":"Habbig"},{"display":"Liebau, Max C.","role":"aut","given":"Max C.","family":"Liebau","roleDisplay":"VerfasserIn"},{"role":"aut","display":"Mauras, Mathilde","given":"Mathilde","roleDisplay":"VerfasserIn","family":"Mauras"},{"roleDisplay":"VerfasserIn","family":"Nijenhuis","given":"Tom","role":"aut","display":"Nijenhuis, Tom"},{"given":"Brigitte","display":"Llanas, Brigitte","role":"aut","family":"Llanas","roleDisplay":"VerfasserIn"},{"role":"aut","display":"Mekahli, Djalila","given":"Djalila","roleDisplay":"VerfasserIn","family":"Mekahli"},{"family":"Thumfart","roleDisplay":"VerfasserIn","given":"Julia","display":"Thumfart, Julia","role":"aut"},{"given":"Burkhard","role":"aut","display":"Tönshoff, Burkhard","roleDisplay":"VerfasserIn","family":"Tönshoff"},{"roleDisplay":"VerfasserIn","family":"Massella","given":"Laura","role":"aut","display":"Massella, Laura"},{"roleDisplay":"VerfasserIn","family":"Eckart","role":"aut","display":"Eckart, Philippe","given":"Philippe"},{"roleDisplay":"VerfasserIn","family":"Cloarec","given":"Sylvie","role":"aut","display":"Cloarec, Sylvie"},{"family":"Cruz","roleDisplay":"VerfasserIn","given":"Alejandro","role":"aut","display":"Cruz, Alejandro"},{"display":"Patzer, Ludwig","role":"aut","given":"Ludwig","roleDisplay":"VerfasserIn","family":"Patzer"},{"display":"Roussey, Gwenaelle","role":"aut","given":"Gwenaelle","family":"Roussey","roleDisplay":"VerfasserIn"},{"given":"Isabelle","display":"Vrillon, Isabelle","role":"aut","roleDisplay":"VerfasserIn","family":"Vrillon"},{"given":"Olivier","role":"aut","display":"Dunand, Olivier","family":"Dunand","roleDisplay":"VerfasserIn"},{"roleDisplay":"VerfasserIn","family":"Bessenay","display":"Bessenay, Lucie","role":"aut","given":"Lucie"},{"given":"Francesca","role":"aut","display":"Taroni, Francesca","roleDisplay":"VerfasserIn","family":"Taroni"},{"roleDisplay":"VerfasserIn","family":"Zaniew","role":"aut","display":"Zaniew, Marcin","given":"Marcin"},{"family":"Louillet","roleDisplay":"VerfasserIn","given":"Ferielle","role":"aut","display":"Louillet, Ferielle"},{"role":"aut","display":"Bergmann, Carsten","given":"Carsten","family":"Bergmann","roleDisplay":"VerfasserIn"},{"roleDisplay":"VerfasserIn","family":"Schaefer","given":"Franz","display":"Schaefer, Franz","role":"aut"},{"family":"van Eerde","roleDisplay":"VerfasserIn","role":"aut","display":"van Eerde, Albertien M.","given":"Albertien M."},{"role":"aut","display":"Schanstra, Joost P.","given":"Joost P.","roleDisplay":"VerfasserIn","family":"Schanstra"},{"given":"Stéphane","role":"aut","display":"Decramer, Stéphane","roleDisplay":"VerfasserIn","family":"Decramer"},{"family":"Ariceta","roleDisplay":"VerfasserIn","given":"Gema","role":"aut","display":"Ariceta, Gema"},{"family":"Benetti","roleDisplay":"VerfasserIn","given":"Elisa","display":"Benetti, Elisa","role":"aut"},{"given":"Marcus R.","display":"Benz, Marcus R.","role":"aut","family":"Benz","roleDisplay":"VerfasserIn"},{"family":"Bjerre","roleDisplay":"VerfasserIn","role":"aut","display":"Bjerre, Anna","given":"Anna"},{"role":"aut","display":"Boudailliez, Bernard R.","given":"Bernard R.","family":"Boudailliez","roleDisplay":"VerfasserIn"},{"family":"Bouts","roleDisplay":"VerfasserIn","display":"Bouts, Antonia","role":"aut","given":"Antonia"},{"family":"Drube","roleDisplay":"VerfasserIn","given":"Jens","display":"Drube, Jens","role":"aut"},{"family":"Gjerstad","roleDisplay":"VerfasserIn","given":"Ann Christin","display":"Gjerstad, Ann Christin","role":"aut"},{"roleDisplay":"VerfasserIn","family":"Jankauskiene","role":"aut","display":"Jankauskiene, Augustina","given":"Augustina"},{"family":"Jávorszky","roleDisplay":"VerfasserIn","given":"Eszter","role":"aut","display":"Jávorszky, Eszter"},{"family":"Jay","roleDisplay":"VerfasserIn","given":"Nadine","display":"Jay, Nadine","role":"aut"},{"given":"Martin","role":"aut","display":"Kirschstein, Martin","roleDisplay":"VerfasserIn","family":"Kirschstein"},{"family":"Varda","roleDisplay":"VerfasserIn","given":"Nataša Marčun","display":"Varda, Nataša Marčun","role":"aut"},{"given":"Olivier","display":"Niel, Olivier","role":"aut","family":"Niel","roleDisplay":"VerfasserIn"},{"given":"François","role":"aut","display":"Nobili, François","family":"Nobili","roleDisplay":"VerfasserIn"},{"display":"Pietrement, Christine","role":"aut","given":"Christine","family":"Pietrement","roleDisplay":"VerfasserIn"},{"roleDisplay":"VerfasserIn","family":"Ruzgiene","display":"Ruzgiene, Dovile","role":"aut","given":"Dovile"},{"display":"Schild, Raphael","role":"aut","given":"Raphael","roleDisplay":"VerfasserIn","family":"Schild"},{"family":"Staude","roleDisplay":"VerfasserIn","given":"Hagen","display":"Staude, Hagen","role":"aut"},{"family":"Tory","roleDisplay":"VerfasserIn","role":"aut","display":"Tory, Kálmán","given":"Kálmán"},{"roleDisplay":"VerfasserIn","family":"Tsimaratos","role":"aut","display":"Tsimaratos, Michel","given":"Michel"},{"given":"Ulrike","display":"Walden, Ulrike","role":"aut","roleDisplay":"VerfasserIn","family":"Walden"},{"display":"Zappel, Hildegard","role":"aut","given":"Hildegard","family":"Zappel","roleDisplay":"VerfasserIn"}],"physDesc":[{"extent":"13 S.","noteIll":"Illustrationen"}],"name":{"displayForm":["Bénédicte Buffin-Meyer, Juliette Richard, Vi 
JSO |a ncent Guigonis, Stefanie Weber, Jens König, Laurence Heidet, Nabila Moussaoui, Jeanne-Pierrette Vu, Stanislas Faguer, Audrey Casemayou, Richa Prakash, Véronique Baudouin, Julien Hogan, Demi Alexandrou, Detlef Bockenhauer, Justine Bacchetta, Bruno Ranchin, Stepanka Pruhova, Jakub Zieg, Annie Lahoche, Christine Okorn, Violetta Antal-Kónya, Denis Morin, Francesca Becherucci, Sandra Habbig, Max C. Liebau, Mathilde Mauras, Tom Nijenhuis, Brigitte Llanas, Djalila Mekahli, Julia Thumfart, Burkhard Tönshoff, Laura Massella, Philippe Eckart, Sylvie Cloarec, Alejandro Cruz, Ludwig Patzer, Gwenaelle Roussey, Isabelle Vrillon, Olivier Dunand, Lucie Bessenay, Francesca Taroni, Marcin Zaniew, Ferielle Louillet, Carsten Bergmann, Franz Schaefer, Albertien M. van Eerde, Joost P. Schanstra, Stéphane Decramer, Gema Ariceta, Elisa Benetti, Marcus R. Benz, Anna Bjerre, Bernard R. Boudailliez, Antonia Bouts, Jens Drube, Ann Christin Gjerstad, Augustina Jankauskiene, Eszter Jávorszky, Nadine Jay, Martin Kirschstein, Nataša Marčun Varda, Olivier Niel, François Nobili, Christine Pietrement, Dovile Ruzgiene, Raphael Schild, Hagen Staude, Kálmán Tory, Michel Tsimaratos, Ulrike Walden, Hildegard Zappel, on behalf of the HNF1B variant study group"]},"note":["Online verfügbar: 16. Mai 2024, Artikelversion: 2. August 2024","Gesehen am 13.11.2024"],"recId":"1908401168","id":{"doi":["10.1016/j.ekir.2024.05.007"],"eki":["1908401168"]},"title":[{"title_sort":"Renal and extrarenal phenotypes in patients with HNF1B variants and chromosome 17q12 microdeletions","title":"Renal and extrarenal phenotypes in patients with HNF1B variants and chromosome 17q12 microdeletions"}]} 
SRT |a BUFFINMEYERENALANDEX2024 

Similar Items