Sfoglia per AUTORE
ALDERS M
Collezione AOU Città della Salute di Torino

  

Items : 6

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...

Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome, caused by variants in the CTCF gene. in Genetics in medicine : official journal of the American College of Medical Genetics / Genet Med. 2024 Mar;26(3):101041. doi: 10.1016/j.gim.2023.101041. Epub 2023 Dec 3.
2024
AOU Città della Salute di Torino

Alders MM; Merla G; Brusco A; Trajkova S; Mussa A; Shukarova-Angelovska E; Carli D; Asaftei SD; Piccione M; Vissers L; Salzano E; Tedder ML; Gerkes EH; Zonneveld-Huijssoon E; Brooks A; Kerkhof J; McConkey H; Levy MA; Haghshenas S; Relator R; Karimi K; Mol MO; Bouman A; Sadikovic B;

The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes. in Human genetics / Hum Genet. 2024 Jun;143(6):761-773. doi: 10.1007/s00439-024-02679-w. Epub 2024 May 24.
2024
AOU Città della Salute di Torino

Vos N; Haghshenas S; van der Laan L; Russel PKM; Rooney K; Levy MA; Relator R; Kerkhof J; McConkey H; Maas SM; Vissers LELM; de Vries BBA; Pfundt R; Elting MW; van Hagen JM; Verbeek NE; Jongmans MCJ; Lakeman P; Rumping L; Bosch DGM; Vitobello A; Thauvin-Robinet C; Faivre L; Nambot S; Garde A; Willems M; Genevieve D; Nicolas G; Busa T; et alii...

Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype. in American journal of medical genetics. Part C, Seminars in medical genetics / Am J Med Genet C Semin Med Genet. 2024 Dec;196(4):e32089. doi: 10.1002/ajmg.c.32089. Epub 2024 Jun 1
2024
AOU Città della Salute di Torino

Sousa SB; Kini U; Oliveira D; Zollino M; Metcalfe K; Yamamoto T; Bourgois A; Perrin L; Vincent-Devulder A; Weber S; Faivre L; Vitobello A; Ciaccio C; D'Arrigo S; Hennekam RCM; Henneman P; Alders M; Skinner C; Tedder ML; McConkey H; Kerkhof J; Relator R; Levy MA; Brusco A; Carli D; Reilly J; Trajkova S; Sarli C; van der Laan L; et alii...

DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder. in Genetics in medicine : official journal of the American College of Medical Genetics / Genet Med. 2023 Aug;25(8):100871. doi: 10.1016/j.gim.2023.100871. Epub 2023 Apr 28.
2023
AOU Città della Salute di Torino

Sadikovic B; Mannens MMAM; Alders M; Hochstenbach R; Misra-Isrie M; Ferrero GB; Brusco A; Oegema R; Verbeek N; van der Smagt JJ; Volker-Touw CML; de Villemeur TB; Keren B; Terrone G; Mignot C; Brunetti-Pierri N; Levy MA; Vos N; Relator R; Lauffer P; Trajkova S; Haghshenas S; Rooney K; van der Laan L; van Haelst MM; Henneman P;

Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith-Wiedemann locus. in Genetics in medicine : official journal of the American College of Medical Genetics / Genet Med. 2019 Aug;21(8):1808-1820. doi: 10.1038/s41436-018-0416-7. Epub 2019 Jan 12.
2019
AOU Città della Salute di Torino

Williams CA; Ferrero GB; Bliek J; Acurzio B; Gabbarini F; Gazzin A; Mussa A; Angelini C; Carli D; Franzese M; Pignata L; Alders M; Frints SGM; Maas SM; Hill-Harfe K; Freschi A; Sparago A; Valente FM; Riccio A; Cerrato F;