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AMERICAN JOURNAL OF MEDICAL GENETICS. PART A
Collezione AOU Città della Salute di Torino

Items : 12

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;

EMILIN1 gene variant associated with polyneuropathy, language impairment, and motor dysfunction. in American journal of medical genetics. Part A / Am J Med Genet A. 2024 Nov;194(11):e63808. doi: 10.1002/ajmg.a.63808. Epub 2024 Jul 4.

2024
AOU Città della Salute di Torino

Gallone S; Calvo A; Canosa A; Tessa A; Romano A; Moglia C; Palumbo F;

Rock around DYRK1A: Ethnic diversity, clinical challenges. in American journal of medical genetics. Part A / Am J Med Genet A. 2023 May;191(5):1459-1464. doi: 10.1002/ajmg.a.63140. Epub 2023 Feb 11.

2023
AOU Città della Salute di Torino

Marchetti D; Pezzoli L; Gabbiadini S; Guuva C; Marzaroli M; Cereda A; Scatigno A; Alfei E; Moroni A; Pezzani L; Spaccini L; Iascone M;

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...

Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data. in American journal of medical genetics. Part A / Am J Med Genet A. 2022 Oct;188(10):2958-2968. doi: 10.1002/ajmg.a.62919. Epub 2022 Jul 29.

2022
AOU Città della Salute di Torino

Cole T; Morton J; Turnpenny PD; McKee S; Lam WWK; Harrison RE; Shannon NL; Varghese V; Bernardini L; Giuffrida MG; Dean J; McMullan DJ; Boogaerts A; Van Den Bogaert K; Joubert M; Beneteau C; Wellesley D; Di Gregorio E; Brusco A; Ferrero GB; Neas K; Rustad CF; Graziani L; Digilio MC; Capolino R; Dentici ML; Novelli A; Di Tommaso S; Hernandez-Garcia A; et alii...

Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans. in American journal of medical genetics. Part A / Am J Med Genet A. 2021 Mar;185(3):836-840. doi: 10.1002/ajmg.a.62066. Epub 2021 Jan 14.

2021
AOU Città della Salute di Torino

Brusco A; Naretto VG; Di Gregorio E; Potocki L; Keswani S; Machol K; Mackay LP; Gofin Y; Hernandez-Garcia A; Scott DA;

Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review. in American journal of medical genetics. Part A / Am J Med Genet A. 2021 Jun;185(6):1712-1720. doi: 10.1002/ajmg.a.62157. Epub 2021 Mar 6.

2021
ASL Città di Torino
AOU Città della Salute di Torino

Brusco A; Keller R; Buxbaum J; Ferrero GB; De Rubeis S; Tartaglia M; Petlichkovski A; Pippucci T; Dimartino P; Radio FC; Bruselles A; Giorgio E; Grosso E; Trajkova S; Pavinato L;

Clinical spectrum and follow-up in six individuals with Lamb-Shaffer syndrome (SOX5). in American journal of medical genetics. Part A / Am J Med Genet A. 2021 Feb;185(2):608-613. doi: 10.1002/ajmg.a.62001. Epub 2020 Dec 9.

2021
AOU Città della Salute di Torino

Romano C; Ferrero GB; Galesi O; Giorgio E; Magini P; Carli D; Greco D; Innella G; Brusco A; Graziano C;

Chronic subdural hematoma: A previously unreported life-threatening complication in adult with Sotos syndrome. in American journal of medical genetics. Part A / Am J Med Genet A. 2020 Dec;182(12):3052-3055. doi: 10.1002/ajmg.a.61900. Epub 2020 Oct 14.

2020
AOU Città della Salute di Torino

Ferrero GB; Mussa A; Bongioanni MR; Bergui M; Gazzin A; Carli D;

A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes. in American journal of medical genetics. Part A / Am J Med Genet A. 2019 Feb;179(2):306-311. doi: 10.1002/ajmg.a.61000. Epub 2018 Dec 18.

2019
AOU Città della Salute di Torino

Brussino A; Grosso E; Sobreira NLM; Bosco M; Sirchia F; Giorgio E; Brusco A; Giorgio E; Sirchia F; Bosco M; Sobreira NLM; Grosso E; Brussino A; Brusco A;

Serum alpha-fetoprotein screening for hepatoblastoma in Beckwith-Wiedemann syndrome. in American journal of medical genetics. Part A / Am J Med Genet A. 2017 Mar;173(3):585-587. doi: 10.1002/ajmg.a.38077.

2017
AOU Città della Salute di Torino

Mussa A; Ferrero GB;

Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples. in American journal of medical genetics. Part A / Am J Med Genet A. 2016 Jul;170(7):1772-9. doi: 10.1002/ajmg.a.37649. Epub 2016 Apr 25.

2016
AOU Città della Salute di Torino

Giorgio E; Ciolfi A; Biamino E; Caputo V; Di Gregorio E; Belligni EF; Calcia A; Gaidolfi E; Bruselles A; Mancini C; Cavalieri S; Molinatto C; Cirillo Silengo M; Ferrero GB; Tartaglia M; Brusco A; Giorgio E; Ciolfi A; Biamino E; Caputo V; Di Gregorio E; Belligni EF; Calcia A; Gaidolfi E; Bruselles A; Mancini C; Cavalieri S; Molinatto C; Cirillo Silengo M; et alii...