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Items : 5

Cyclic Vomiting Syndrome in Patients Affected by Jansen-de Vries Syndrome: Results From an International Survey. in American journal of medical genetics. Part A / Am J Med Genet A. 2025 Mar;197(3):e63918. doi: 10.1002/ajmg.a.63918. Epub 2024 Nov 4.
2025
AOU Città della Salute di Torino

Calvo PL; Curry CJ; de Vries BBA; Adams KA; Pizzol A;

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...

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...

RICTOR variants are associated with neurodevelopmental disorders. in European journal of human genetics : EJHG / Eur J Hum Genet. 2024 Dec 30. doi: 10.1038/s41431-024-01774-w.
2024
AOU Città della Salute di Torino

Carapito R; Molitor A; Pavinato L; Skeyni A; Lambert M; Pichot A; Jiang J; Spinnhirny P; Zimmermann L; Boucher P; Chung CWT; Elserafy N; Blair EM; Li D; Elisabeth B; Kotzaeridou U; Karch S; Wagner M; Lunsing RJ; Pfundt R; Boycott KM; Bruel AL; Mau-Them FT; Moutton S; Conti V; Mei D; Cetica V; Guerrini R; Brunet T; 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...