Gêniris

Voici un état de l'art des recherches sur le syndrome de Gillespie : 

Gillespie syndrome in a South Asian child: a case report with confirmation of a heterozygous mutation of the ITPR1 gene and review of the clinical and molecular features.

De Silva D, Williamson KA, Dayasiri KC, Suraweera N, Quinters V, Abeysekara H, Wanigasinghe J, De Silva D, De Silva H.

BMC Pediatr. 2018 Sep 24;18(1):308. doi: 10.1186/s12887-018-1286-5.

PMID:

30249237

Free PMC Article

Select item 30242502

The genetic architecture of aniridia and Gillespie syndrome.

Hall HN, Williamson KA, FitzPatrick DR.

Hum Genet. 2018 Sep 22. doi: 10.1007/s00439-018-1934-8. [Epub ahead of print] Review.

PMID:

30242502

Select item 29906486

Pathophysiological consequences of isoform-specific IP₃ receptor mutations.

Kerkhofs M, Seitaj B, Ivanova H, Monaco G, Bultynck G, Parys JB.

Biochim Biophys Acta Mol Cell Res. 2018 Jun 12. pii: S0167-4889(18)30132-0. doi: 10.1016/j.bbamcr.2018.06.004. [Epub ahead of print] Review.

PMID:

29906486

Select item 29663667

A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome.

Paganini L, Pesenti C, Milani D, Fontana L, Motta S, Sirchia SM, Scuvera G, Marchisio P, Esposito S, Cinnante CM, Tabano SM, Miozzo MR.

Am J Med Genet A. 2018 Jun;176(6):1427-1431. doi: 10.1002/ajmg.a.38704. Epub 2018 Apr 16.

PMID:

29663667

Select item 29169895

Additional features of Gillespie syndrome in two Brazilian siblings with a novel ITPR1 homozygous pathogenic variant.

Carvalho DR, Medeiros JEG, Ribeiro DSM, Martins BJAF, Sobreira NLM.

Eur J Med Genet. 2018 Mar;61(3):134-138. doi: 10.1016/j.ejmg.2017.11.005. Epub 2017 Nov 21.

PMID:

29169895