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Page 1
A Mouse Model with a Frameshift Mutation in the Nuclear Factor I/X (NFIX) Gene Has Phenotypic Features of Marshall-Smith Syndrome.
Kooblall KG, Stevenson M, Stewart M, Harris L, Zalucki O, Dewhurst H, Butterfield N, Leng H, Hough TA, Ma D, Siow B, Potter P, Cox RD, Brown SDM, Horwood N, Wright B, Lockstone H, Buck D, Vincent TL, Hannan FM, Bassett JHD, Williams GR, Lines KE, Piper M, Wells S, Teboul L, Hennekam RC, Thakker RV. Kooblall KG, et al. JBMR Plus. 2023 Mar 30;7(6):e10739. doi: 10.1002/jbm4.10739. eCollection 2023 Jun. JBMR Plus. 2023. PMID: 37283649 Free PMC article.
miR-3156-5p is downregulated in serum of MEN1 patients and regulates expression of MORF4L2.
Kooblall KG, Stokes VJ, Shariq OA, English KA, Stevenson M, Broxholme J, Wright B, Lockstone HE, Buck D, Grozinsky-Glasberg S, Yates CJ, Thakker RV, Lines KE. Kooblall KG, et al. Endocr Relat Cancer. 2022 Aug 4;29(10):557-568. doi: 10.1530/ERC-22-0045. Print 2022 Oct 1. Endocr Relat Cancer. 2022. PMID: 35900839 Free PMC article.
Studies of mice deleted for Sox3 and uc482: relevance to X-linked hypoparathyroidism.
Gaynor KU, Grigorieva IV, Mirczuk SM, Piret S, Kooblall KG, Stevenson M, Rizzoti K, Bowl MR, Nesbit MA, Christie PT, Fraser WD, Hough T, Whyte MP, Lovell-Badge R, Thakker R. Gaynor KU, et al. Among authors: kooblall kg. Endocr Connect. 2020 Jan 1;9(2):173-86. doi: 10.1530/EC-19-0478. Online ahead of print. Endocr Connect. 2020. PMID: 31961795 Free PMC article.
Further delineation of Malan syndrome.
Priolo M, Schanze D, Tatton-Brown K, Mulder PA, Tenorio J, Kooblall K, Acero IH, Alkuraya FS, Arias P, Bernardini L, Bijlsma EK, Cole T, Coubes C, Dapia I, Davies S, Di Donato N, Elcioglu NH, Fahrner JA, Foster A, González NG, Huber I, Iascone M, Kaiser AS, Kamath A, Liebelt J, Lynch SA, Maas SM, Mammì C, Mathijssen IB, McKee S, Menke LA, Mirzaa GM, Montgomery T, Neubauer D, Neumann TE, Pintomalli L, Pisanti MA, Plomp AS, Price S, Salter C, Santos-Simarro F, Sarda P, Segovia M, Shaw-Smith C, Smithson S, Suri M, Valdez RM, Van Haeringen A, Van Hagen JM, Zollino M, Lapunzina P, Thakker RV, Zenker M, Hennekam RC. Priolo M, et al. Hum Mutat. 2018 Sep;39(9):1226-1237. doi: 10.1002/humu.23563. Epub 2018 Jun 25. Hum Mutat. 2018. PMID: 29897170 Free PMC article.
Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes.
Mulder PA, van Balkom IDC, Landlust AM, Priolo M, Menke LA, Acero IH, Alkuraya FS, Arias P, Bernardini L, Bijlsma EK, Cole T, Coubes C, Dapia I, Davies S, Di Donato N, Elcioglu NH, Fahrner JA, Foster A, González NG, Huber I, Iascone M, Kaiser AS, Kamath A, Kooblall K, Lapunzina P, Liebelt J, Lynch SA, Maas SM, Mammì C, Mathijssen IB, McKee S, Mirzaa GM, Montgomery T, Neubauer D, Neumann TE, Pintomalli L, Pisanti MA, Plomp AS, Price S, Salter C, Santos-Simarro F, Sarda P, Schanze D, Segovia M, Shaw-Smith C, Smithson S, Suri M, Tatton-Brown K, Tenorio J, Thakker RV, Valdez RM, Van Haeringen A, Van Hagen JM, Zenker M, Zollino M, Dunn WW, Piening S, Hennekam RC. Mulder PA, et al. J Intellect Disabil Res. 2020 Dec;64(12):956-969. doi: 10.1111/jir.12787. Epub 2020 Oct 9. J Intellect Disabil Res. 2020. PMID: 33034087 Free PMC article.
Fatal COVID-19 outcomes are associated with an antibody response targeting epitopes shared with endemic coronaviruses.
McNaughton AL, Paton RS, Edmans M, Youngs J, Wellens J, Phalora P, Fyfe A, Belij-Rammerstorfer S, Bolton JS, Ball J, Carnell GW, Dejnirattisai W, Dold C, Eyre DW, Hopkins P, Howarth A, Kooblall K, Klim H, Leaver S, Lee LN, López-Camacho C, Lumley SF, Macallan DC, Mentzer AJ, Provine NM, Ratcliff J, Slon-Compos J, Skelly D, Stolle L, Supasa P, Temperton N, Walker C, Wang B, Wyncoll D; Oxford Protective T Cell Immunology for COVID-19 (OPTIC) consortium; Scottish National Blood Transfusion Service (SNBTS) consortium; Simmonds P, Lambe T, Baillie JK, Semple MG, Openshaw PJ; International Severe Acute Respiratory and emerging Infection Consortium Coronavirus Clinical Characterisation Consortium (ISARIC4C) investigators; Obolski U, Turner M, Carroll M, Mongkolsapaya J, Screaton G, Kennedy SH, Jarvis L, Barnes E, Dunachie S, Lourenço J, Matthews PC, Bicanic T, Klenerman P, Gupta S, Thompson CP. McNaughton AL, et al. JCI Insight. 2022 Jul 8;7(13):e156372. doi: 10.1172/jci.insight.156372. JCI Insight. 2022. PMID: 35608920 Free PMC article.
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