Sfoglia per AUTORE
MARCELIS C
Collezione AOU Città della Salute di Torino

  

Items : 7

CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature. in HGG advances / HGG Adv. 2025 Jan 9;6(1):100380. doi: 10.1016/j.xhgg.2024.100380. Epub 2024 Nov 4.
2025
AOU Città della Salute di Torino

Barakat TS; Alders M; van der Smagt JJ; José van den Boogaard M; Trajkova S; van Bever Y; Polstra AM; Pfundt R; Nordgren A; Närhi A; Mignot C; Mussa A; Mizuguchi T; Matsumoto N; Marcelis C; Mancini GMS; Maas SM; Lock-Hock N; Levy MA; Kroes HY; Keren B; Kato M; Kira R; Kant SG; Hopman S; Hochstenbach R; Herkert JC; Engelen M; Vega AD; et alii...

Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families. in American journal of medical genetics. Part A / Am J Med Genet A. 2023 Jul;191(7):1900-1910. doi: 10.1002/ajmg.a.63226. Epub 2023 May 14.
2023
AOU Città della Salute di Torino

Wojcik MH; Srivastava S; Agrawal PB; Balci TB; Callewaert B; Calvo PL; Carli D; Caudle M; Colaiacovo S; Cross L; Demetriou K; Drazba K; Dutra-Clarke M; Edwards M; Genetti CA; Grange DK; Hickey SE; Isidor B; Küry S; Lachman HM; Lavillaureix A; Lyons MJ; Marcelis C; Marco EJ; Martinez-Agosto JA; Nowak C; Pizzol A; Planes M; Prijoles EJ; et alii...

A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy. in Communications biology / Commun Biol. 2022 Nov 9;5(1):1203. doi: 10.1038/s42003-022-04092-3.
2022
AOU Città della Salute di Torino

Mingardo E; Beaman G; Grote P; Nordenskjöld A; Newman W; Woolf AS; Eckstein M; Hilger AC; Dworschak GC; Rösch W; Ebert AK; Stein R; Brusco A; Di Grazia M; Tamer A; Torres FM; Hernandez JL; Erben P; Maj C; Olmos JM; Riancho JA; Valero C; Hostettler IC; Houlden H; Werring DJ; Schumacher J; Gehlen J; Giel AS; Buerfent BC; et alii...

De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus. in Brain : a journal of neurology / Brain. 2022 Mar 29;145(1):208-223. doi: 10.1093/brain/awab299.
2022
AOU Città della Salute di Torino

Galosi S; Edani BH; Martinelli S; Hansikova H; Eklund EA; Caputi C; Masuelli L; Corsten-Janssen N; Srour M; Oegema R; Bosch DGM; Ellis CA; Amlie-Wolf L; Accogli A; Atallah I; Averdunk L; Barañano KW; Bei R; Bagnasco I; Brusco A; Demarest S; Alaix AS; Di Bonaventura C; Distelmaier F; Elmslie F; Gan-Or Z; Good JM; Gripp K; Kamsteeg EJ; et alii...

SLC20A1 Is Involved in Urinary Tract and Urorectal Development. in Frontiers in cell and developmental biology / Front Cell Dev Biol. 2020 Aug 7;8:567. doi: 10.3389/fcell.2020.00567. eCollection 2020.
2020
AOU Città della Salute di Torino

Grote P; Wittler L; Dakal TC; Sharma A; Keegan CE; Beckers GMA; Bökenkamp A; Van Rooij IALM; Marcelis CLM; Feitz WFJ; Di Grazia M; Giorgio E; Keene D; Cervellione RM; Läckgren G; Holmdahl G; Barker G; Anderberg M; Kluth D; Gosemann JH; Lacher M; Boemers TM; Schmiedeke E; Schäfer FM; Hirsch K; Stein R; Rösch WH; Promm M; Ebert AK; et alii...

ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development. in Scientific reports / Sci Rep. 2017 Feb 8;7:42170. doi: 10.1038/srep42170.
2017
AOU Città della Salute di Torino

Zhang R; Knapp M; Suzuki K; Kajioka D; Schmidt JM; Winkler J; Yilmaz Ö; Pleschka M; Cao J; Kockum CC; Barker G; Holmdahl G; Beaman G; Keene D; Woolf AS; Cervellione RM; Cheng W; Wilkins S; Gearhart JP; Sirchia F; Di Grazia M; Ebert AK; Rösch W; Ellinger J; Jenetzky E; Zwink N; Feitz WF; Marcelis C; Schumacher J; et alii...

CNV analysis in 169 patients with bladder exstrophy-epispadias complex. in BMC medical genetics / BMC Med Genet. 2016 Apr 30;17(1):35. doi: 10.1186/s12881-016-0299-x.
2016
AOU Città della Salute di Torino

von Lowtzow C; Hofmann A; Zhang R; Marsch F; Ebert AK; Rösch W; Stein R; Boemers TM; Hirsch K; Marcelis C; Feitz WF; Brusco A; Migone N; Di Grazia M; Moebus S; Nöthen MM; Reutter H; Ludwig M; Draaken M;