RE-BVS – Piemonte Repository

Sfoglia per RIVISTA
EUROPEAN JOURNAL OF HUMAN GENETICS : EJHG
Collezione AOU Città della Salute di Torino

Items : 11

Identification of the DNA methylation signature of Mowat-Wilson syndrome. in European journal of human genetics : EJHG / Eur J Hum Genet. 2024 Jun;32(6):619-629. doi: 10.1038/s41431-024-01548-4. Epub 2024 Feb 13.

2024
AOU San Luigi di Orbassano
AOU Città della Salute di Torino

Trajkova S; Zuntini R; Relator R; Haghshenas S; Levy MA; Garavelli L; Sadikovic B; Ferrero GB; Tartaglia M; McConkey H; Zollino M; Pullano V; Brusco A; Pavinato L; Ivanovski I; Fetta A; Sukarova E; Lauzon C; Cordelli DM; Mandrile G; Baldo C; Rooney K; Caraffi SG; van der Laan L;

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...

Epidemiology of the disorders of the Pik3ca-related overgrowth spectrum (Pros). in European journal of human genetics : EJHG / Eur J Hum Genet. 2023 Nov;31(11):1333-1336. doi: 10.1038/s41431-023-01414-9. Epub 2023 Jun 26.

2023
AOU Città della Salute di Torino

Ranieri C; Resta N; Turchiano A; Bagnulo R; Piglionica M; La Selva R; Coppo P; Luca M; Gazzin A; Carli D; Cardaropoli S; Reynolds G; Mussa A;

Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes. in European journal of human genetics : EJHG / Eur J Hum Genet. 2023 Nov;31(11):1228-1236. doi: 10.1038/s41431-023-01324-w. Epub 2023 Mar 6.

2023
AOU San Luigi di Orbassano
AOU Città della Salute di Torino

Ferrero GB; Delledonne M; Rossato M; Tartaglia M; Pippucci T; De Rubeis S; Buxbaum JD; Pasini B; Mandrile G; Bruselles A; Froukh T; Dimartino P; Mussa A; Palermo F; Carli D; Battaglia A; Bertoli L; Fadda A; Rinninella A; Salmin P; Carestiato S; Sukarova-Angelovska E; Ferrero E; Brusco A; Pullano V; Cardaropoli S; Pavinato L; Trajkova S; Giovenino C; et alii...

Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return. in European journal of human genetics : EJHG / Eur J Hum Genet. 2023 Dec;31(12):1430-1439. doi: 10.1038/s41431-023-01451-4. Epub 2023 Sep 7.

2023
AOU Città della Salute di Torino

Geddes GC; Landis BJ; Helvaty LR; Rankin J; Kerstjens-Frederikse WS; Brusco A; Ferrero GB; Neas K; Armstrong R; Tan TY; Burgess T; Kini U; Sasaki E; Kraus A; Breckpot J; Gewillig M; Louw JJ; Parker MJ; Clayton-Smith J; Joss S; Dorf ILH; Vogel I; Luna PN; Owen N; Zhao X; Huth EA; McBride KL; Ware SM; Shaw CA; et alii...

Variants in the 5'UTR reduce SHOX expression and contribute to SHOX haploinsufficiency. in European journal of human genetics : EJHG / Eur J Hum Genet. 2021 Jan;29(1):110-121. doi: 10.1038/s41431-020-0676-y. Epub 2020 Jul 9.

2021
AOU Città della Salute di Torino

Stuppia L; De Sanctis L; Vinci G; Monzani A; Bellone S; Grandone A; Essa WA; Corrado L; Baffico AM; Mellone S; Fanelli A; Vannelli S; Babu D; Prodam F; Giordano M;

ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population. in European journal of human genetics : EJHG / Eur J Hum Genet. 2020 Nov;28(11):1602-1614. doi: 10.1038/s41431-020-0691-z. Epub 2020 Jul 17.

2020
AOU Città della Salute di Torino

Seri M; Furini S; Bruttini M; Asselta R; Brusco A; Baldassarri M; Valentino F; Trezza A; Torella A; Pippucci T; Musacchia F; Marconi C; Giliberti A; Doddato G; Bruselles A; Birolo G; Ciolfi A; Spiga O; Tita R; Benetti E; Nigro V; Matullo G; Tartaglia M; Mari F; Renieri A; Pinto AM;

Recontacting or not recontacting? A survey of current practices in clinical genetics centres in Europe. in European journal of human genetics : EJHG / Eur J Hum Genet. 2018 Jul;26(7):946-954. doi: 10.1038/s41431-018-0131-5. Epub 2018 Apr 23.

2018
AOU Città della Salute di Torino

Lucassen AM; van Langen IM; Halbersma-Konings TF; Mendes Á; Melegh B; van El CG; Turnpenny PD; Kayserili H; Cordier C; Benjamin C; Dheensa S; Carrieri D; Sirchia F; Clarke AJ; Forzano F; Kelly SE; Sirchia F; Carrieri D; Dheensa S; Benjamin C; Kayserili H; Cordier C; van El CG; Turnpenny PD; Melegh B; Mendes Á; Halbersma-Konings TF; van Langen IM; Lucassen AM; et alii...

Revisiting Wilms tumour surveillance in Beckwith-Wiedemann syndrome with IC2 methylation loss, reply. in European journal of human genetics : EJHG / Eur J Hum Genet. 2018 Apr;26(4):471-472. doi: 10.1038/s41431-017-0074-2. Epub 2018 Feb 15.

2018
AOU Città della Salute di Torino

Brioude F; Hennekam R; Bliek J; Coze C; Eggermann T; Ferrero GB; Kratz C; Bouc YL; Maas SM; Mackay DJG; Maher ER; Mussa A; Netchine I;

Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome). in European journal of human genetics : EJHG / Eur J Hum Genet. 2016 Aug;24(9):1262-7. doi: 10.1038/ejhg.2016.19. Epub 2016 Mar 2.

2016
AOU Città della Salute di Torino

Micalizzi A; Poretti A; Romani M; Ginevrino M; Mazza T; Aiello C; Zanni G; Baumgartner B; Borgatti R; Brockmann K; Camacho A; Cantalupo G; Haeusler M; Hikel C; Klein A; Mandrile G; Mercuri E; Rating D; Romaniello R; Santorelli FM; Schimmel M; Spaccini L; Teber S; von Moers A; Wente S; Ziegler A; Zonta A; Bertini E; Boltshauser E; et alii...

Deep-intronic ATM mutation detected by genomic resequencing and corrected in vitro by antisense morpholino oligonucleotide (AMO). in European journal of human genetics : EJHG / Eur J Hum Genet. 2013 Jul;21(7):774-8. doi: 10.1038/ejhg.2012.266. Epub 2012 Dec 5.

2013
AOU Città della Salute di Torino

Cavalieri S; Pozzi E; Gatti RA; Brusco A;