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Unravelling morphoea aetiopathogenesis by next-generation sequencing of paired skin biopsies.
Published in:
Archives of Dermatological Research, 2023, v. 315, n. 7, p. 2035, doi. 10.1007/s00403-023-02541-5
By:
- Saracino, Amanda M.;
- Kelberman, Daniel;
- Otto, Georg W.;
- Gagunashvili, Andrey;
- Abraham, David J.;
- Denton, Christopher P.
Publication type:
Article
ZSWIM7 Is Associated With Human Female Meiosis and Familial Primary Ovarian Insufficiency.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 1, p. e254, doi. 10.1210/clinem/dgab597
By:
- McGlacken-Byrne, Sinéad M.;
- Le Quesne Stabej, Polona;
- Del Valle, Ignacio;
- Ocaka, Louise;
- Gagunashvili, Andrey;
- Crespo, Berta;
- Moreno, Nadjeda;
- James, Chela;
- Bacchelli, Chiara;
- Dattani, Mehul T.;
- Williams, Hywel J.;
- Kelberman, Dan;
- Achermann, John C.;
- Conway, Gerard S.
Publication type:
Article
Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans.
Published in:
Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-21712-4
By:
- Gualtieri, Angelica;
- Kyprianou, Nikolina;
- Gregory, Louise C.;
- Vignola, Maria Lillina;
- Nicholson, James G.;
- Tan, Rachael;
- Inoue, Shin-ichi;
- Scagliotti, Valeria;
- Casado, Pedro;
- Blackburn, James;
- Abollo-Jimenez, Fernando;
- Marinelli, Eugenia;
- Besser, Rachael E. J.;
- Högler, Wolfgang;
- Karen Temple, I.;
- Davies, Justin H.;
- Gagunashvili, Andrey;
- Robinson, Iain C.A.F.;
- Camper, Sally A.;
- Davis, Shannon W.
Publication type:
Article
Neuroinflammation, autoinflammation, splenomegaly and anemia caused by bi-allelic mutations in IRAK4.
Published in:
Frontiers in Immunology, 2023, p. 01, doi. 10.3389/fimmu.2023.1231749
By:
- Cooray, Samantha;
- Price-Kuehne, Fiona;
- Ying Hong;
- Omoyinmi, Ebun;
- Burleigh, Alice;
- Gilmour, Kimberly C.;
- Ahmad, Bilal;
- Sangdun Choi;
- Bahar, Mohammad W.;
- Torpiano, Paul;
- Gagunashvili, Andrey;
- Jensen, Barbara;
- Bellos, Evangelos;
- Sancho-Shimizu, Vanessa;
- Herberg, Jethro A.;
- Mankad, Kshitij;
- Kumar, Atul;
- Kaliakatsos, Marios;
- Worth, Austen J. J.;
- Eleftheriou, Despina
Publication type:
Article
Distinctive characters of <italic>Nostoc</italic> genomes in cyanolichens.
Published in:
BMC Genomics, 2018, v. 19, n. 1, p. 1, doi. 10.1186/s12864-018-4743-5
By:
- Gagunashvili, Andrey N.;
- Andrésson, Ólafur S.
Publication type:
Article
Novel missense variants in the RNF213 gene from a European family with Moyamoya disease.
Published in:
Human Genome Variation, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41439-019-0066-6
By:
- Gagunashvili, Andrey N.;
- Ocaka, Louise;
- Kelberman, Daniel;
- Munot, Pinki;
- Bacchelli, Chiara;
- Beales, Philip L.;
- Ganesan, Vijeya
Publication type:
Article
Sotos Syndrome Presenting with Neonatal Hyperinsulinaemic Hypoglycaemia, Extensive Thrombosis, and Multisystem Involvement.
Published in:
Hormone Research in Paediatrics, 2019, v. 92, n. 1, p. 64, doi. 10.1159/000496545
By:
- Cerbone, Manuela;
- Clement, Emma;
- McClatchey, Martin;
- Dobbin, Joanna;
- Gilbert, Clare;
- Keane, Morgan;
- Boukhibar, Lamia;
- Williams, Hywel;
- Gagunashvili, Andrey;
- Dattani, Mehul T.;
- Hurst, Jane;
- Shah, Pratik
Publication type:
Article

Found: 7

Unravelling morphoea aetiopathogenesis by next-generation sequencing of paired skin biopsies.

ZSWIM7 Is Associated With Human Female Meiosis and Familial Primary Ovarian Insufficiency.

Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans.

Neuroinflammation, autoinflammation, splenomegaly and anemia caused by bi-allelic mutations in IRAK4.

Distinctive characters of <italic>Nostoc</italic> genomes in cyanolichens.

Novel missense variants in the RNF213 gene from a European family with Moyamoya disease.

Sotos Syndrome Presenting with Neonatal Hyperinsulinaemic Hypoglycaemia, Extensive Thrombosis, and Multisystem Involvement.