Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis.

Autor: Mackay, Deborah J. G.¹ (AUTHOR) djgm@soton.ac.uk, Gazdagh, Gabriella^1,2 (AUTHOR), Monk, David³ (AUTHOR), Brioude, Frederic⁴ (AUTHOR), Giabicani, Eloise⁴ (AUTHOR), Krzyzewska, Izabela M.⁵ (AUTHOR), Kalish, Jennifer M.^6,7 (AUTHOR), Maas, Saskia M.⁵ (AUTHOR), Kagami, Masayo⁸ (AUTHOR), Beygo, Jasmin⁹ (AUTHOR), Kahre, Tiina^10,11 (AUTHOR), Tenorio-Castano, Jair^12,13 (AUTHOR), Ambrozaitytė, Laima¹⁴ (AUTHOR), Burnytė, Birutė¹⁴ (AUTHOR), Cerrato, Flavia¹⁵ (AUTHOR), Davies, Justin H.^1,16 (AUTHOR), Ferrero, Giovanni Battista¹⁷ (AUTHOR), Fjodorova, Olga¹⁰ (AUTHOR), Manero-Azua, Africa¹⁸ (AUTHOR), Pereda, Arrate¹⁸ (AUTHOR)

Publikováno v: Clinical Epigenetics. 8/1/2024, Vol. 16 Issue 1, p1-19. 19p.

Long-term Follow-up of a Late Diagnosed Patient with Temple Syndrome.

Autor: Yordanova, Nikolinka, Iotova, Violeta, Mackay, Deborah J. G., Temple, I. Karen, Stoyanova, Sara, Hachmeriyan, Mari

Publikováno v: Journal of Clinical Research in Pediatric Endocrinology; Dec2024, Vol. 16 Issue 4, p475-480, 6p

Body Composition and Metabolism in Adults With Molecularly Confirmed Silver-Russell Syndrome.

Autor: Lokulo-Sodipe, Oluwakemi, Inskip, Hazel M, Byrne, Christopher D, Child, Jenny, Wakeling, Emma L, Mackay, Deborah J G, Temple, I Karen, Davies, Justin H

Publikováno v: Journal of Clinical Endocrinology & Metabolism; Nov2024, Vol. 109 Issue 11, pe2001-e2008, 8p

A case of mosaic deletion of paternally‐inherited PLAGL1 and two cases of upd(6)mat add to evidence for PLAGL1 under‐expression as a cause of growth restriction.

Autor: Alhendi, Ahmed S. N., Gazdagh, Gabriella, Lim, Derek, McMullan, Dominic, Wright, Michael, Temple, I. Karen, Davies, Justin H., Mackay, Deborah J. G.

Publikováno v: American Journal of Medical Genetics. Part A; Feb2024, Vol. 194 Issue 2, p383-388, 6p

Clinical and genetic features of Argentinian children with diabetes-onset before 12 months of age: Successful transfer from insulin to oral sulfonylurea

Autor: Taberner, Patricia, Flanagan, Sarah E., Mackay, Deborah J., Ellard, Sian, Taverna, Mariano J., Ferraro, Mabel

Publikováno v: In Diabetes Research and Clinical Practice July 2016 117:104-110