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Items: 7

1.

Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2.

Duncan CJA, Thompson BJ, Chen R, Rice GI, Gothe F, Young DF, Lovell SC, Shuttleworth VG, Brocklebank V, Corner B, Skelton AJ, Bondet V, Coxhead J, Duffy D, Fourrage C, Livingston JH, Pavaine J, Cheesman E, Bitetti S, Grainger A, Acres M, Innes BA, Mikulasova A, Sun R, Hussain R, Wright R, Wynn R, Zarhrate M, Zeef LAH, Wood K, Hughes SM, Harris CL, Engelhardt KR, Crow YJ, Randall RE, Kavanagh D, Hambleton S, Briggs TA.

Sci Immunol. 2019 Dec 13;4(42). pii: eaav7501. doi: 10.1126/sciimmunol.aav7501.

PMID:
31836668
2.

Clinical Diversity in Focal Congenital Hyperinsulinism in Infancy Correlates With Histological Heterogeneity of Islet Cell Lesions.

Craigie RJ, Salomon-Estebanez M, Yau D, Han B, Mal W, Newbould M, Cheesman E, Bitetti S, Mohamed Z, Sajjan R, Padidela R, Skae M, Flanagan S, Ellard S, Cosgrove KE, Banerjee I, Dunne MJ.

Front Endocrinol (Lausanne). 2018 Oct 17;9:619. doi: 10.3389/fendo.2018.00619. eCollection 2018.

3.

Focal Congenital Hyperinsulinism as a Cause for Sudden Infant Death.

Chinoy A, Banerjee I, Flanagan SE, Ellard S, Han B, Mohamed Z, Dunne MJ, Bitetti S.

Pediatr Dev Pathol. 2019 Jan-Feb;22(1):65-69. doi: 10.1177/1093526618765376. Epub 2018 Mar 20.

PMID:
29558846
4.

SIFD as a novel cause of severe fetal hydrops and neonatal anaemia with iron loading and marked extramedullary haemopoiesis.

Barton C, Kausar S, Kerr D, Bitetti S, Wynn R.

J Clin Pathol. 2018 Mar;71(3):275-278. doi: 10.1136/jclinpath-2017-204698. Epub 2017 Oct 21.

5.

Infantile haemangiopericytoma: a rare congenital cervical tumour.

Farrar EM, Bates JE, Bitetti S, Bruce IA.

J Laryngol Otol. 2014 Feb;128(2):212-5. doi: 10.1017/S0022215113003630. Epub 2014 Feb 10.

PMID:
24507075
6.

Intraoperative examination (IOE) in pediatric extracranial tumors.

Dall'igna P, d'Amore ES, Cecchetto G, Bisogno G, Carretto E, Bitetti S, Famengo B, Alaggio R.

Pediatr Blood Cancer. 2010 Mar;54(3):388-93. doi: 10.1002/pbc.22309.

PMID:
20052774
7.

Meconium periorchitis: a rare cause of fetal scrotal cyst--MRI and pathologic appearance.

Cesca E, Midrio P, Tregnaghi A, Alaggio R, Bitetti S, Gamba P.

Fetal Diagn Ther. 2009;26(1):38-40. doi: 10.1159/000236358. Epub 2009 Oct 10.

PMID:
19816029

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