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Page 1
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study.
Groeneweg S, van Geest FS, Abacı A, Alcantud A, Ambegaonkar GP, Armour CM, Bakhtiani P, Barca D, Bertini ES, van Beynum IM, Brunetti-Pierri N, Bugiani M, Cappa M, Cappuccio G, Castellotti B, Castiglioni C, Chatterjee K, de Coo IFM, Coutant R, Craiu D, Crock P, DeGoede C, Demir K, Dica A, Dimitri P, Dolcetta-Capuzzo A, Dremmen MHG, Dubey R, Enderli A, Fairchild J, Gallichan J, George B, Gevers EF, Hackenberg A, Halász Z, Heinrich B, Huynh T, Kłosowska A, van der Knaap MS, van der Knoop MM, Konrad D, Koolen DA, Krude H, Lawson-Yuen A, Lebl J, Linder-Lucht M, Lorea CF, Lourenço CM, Lunsing RJ, Lyons G, Malikova J, Mancilla EE, McGowan A, Mericq V, Lora FM, Moran C, Müller KE, Oliver-Petit I, Paone L, Paul PG, Polak M, Porta F, Poswar FO, Reinauer C, Rozenkova K, Menevse TS, Simm P, Simon A, Singh Y, Spada M, van der Spek J, Stals MAM, Stoupa A, Subramanian GM, Tonduti D, Turan S, den Uil CA, Vanderniet J, van der Walt A, Wémeau JL, Wierzba J, de Wit MY, Wolf NI, Wurm M, Zibordi F, Zung A, Zwaveling-Soonawala N, Visser WE. Groeneweg S, et al. Among authors: crock p. Lancet Diabetes Endocrinol. 2020 Jul;8(7):594-605. doi: 10.1016/S2213-8587(20)30153-4. Lancet Diabetes Endocrinol. 2020. PMID: 32559475 Free PMC article.
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.
Eggers S, Sadedin S, van den Bergen JA, Robevska G, Ohnesorg T, Hewitt J, Lambeth L, Bouty A, Knarston IM, Tan TY, Cameron F, Werther G, Hutson J, O'Connell M, Grover SR, Heloury Y, Zacharin M, Bergman P, Kimber C, Brown J, Webb N, Hunter MF, Srinivasan S, Titmuss A, Verge CF, Mowat D, Smith G, Smith J, Ewans L, Shalhoub C, Crock P, Cowell C, Leong GM, Ono M, Lafferty AR, Huynh T, Visser U, Choong CS, McKenzie F, Pachter N, Thompson EM, Couper J, Baxendale A, Gecz J, Wheeler BJ, Jefferies C, MacKenzie K, Hofman P, Carter P, King RI, Krausz C, van Ravenswaaij-Arts CM, Looijenga L, Drop S, Riedl S, Cools M, Dawson A, Juniarto AZ, Khadilkar V, Khadilkar A, Bhatia V, Dũng VC, Atta I, Raza J, Thi Diem Chi N, Hao TK, Harley V, Koopman P, Warne G, Faradz S, Oshlack A, Ayers KL, Sinclair AH. Eggers S, et al. Among authors: crock p. Genome Biol. 2016 Nov 29;17(1):243. doi: 10.1186/s13059-016-1105-y. Genome Biol. 2016. PMID: 27899157 Free PMC article.
Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration.
Groeneweg S, van Geest FS, Martín M, Dias M, Frazer J, Medina-Gomez C, Sterenborg RBTM, Wang H, Dolcetta-Capuzzo A, de Rooij LJ, Teumer A, Abaci A, van den Akker ELT, Ambegaonkar GP, Armour CM, Bacos I, Bakhtiani P, Barca D, Bauer AJ, van den Berg SAA, van den Berge A, Bertini E, van Beynum IM, Brunetti-Pierri N, Brunner D, Cappa M, Cappuccio G, Castellotti B, Castiglioni C, Chatterjee K, Chesover A, Christian P, Coenen-van der Spek J, de Coo IFM, Coutant R, Craiu D, Crock P, DeGoede C, Demir K, Dewey C, Dica A, Dimitri P, Dremmen MHG, Dubey R, Enderli A, Fairchild J, Gallichan J, Garibaldi L, George B, Gevers EF, Greenup E, Hackenberg A, Halász Z, Heinrich B, Hurst AC, Huynh T, Isaza AR, Klosowska A, van der Knoop MM, Konrad D, Koolen DA, Krude H, Kulkarni A, Laemmle A, LaFranchi SH, Lawson-Yuen A, Lebl J, Leeuwenburgh S, Linder-Lucht M, López Martí A, Lorea CF, Lourenço CM, Lunsing RJ, Lyons G, Malikova JK, Mancilla EE, McCormick KL, McGowan A, Mericq V, Lora FM, Moran C, Muller KE, Nicol LE, Oliver-Petit I, Paone L, Paul PG, Polak M, Porta F, Poswar FO, Reinauer C, Rozenkova K, Seckold R, Seven Menevse T, Simm P, Simon A, Singh Y, Spada M, Stals MAM, Stegenga MT, Stoupa … See abstract for full author list ➔ Groeneweg S, et al. Among authors: crock p. Nat Commun. 2025 Mar 12;16(1):2479. doi: 10.1038/s41467-025-56628-w. Nat Commun. 2025. PMID: 40075072 Free PMC article.
Requirements for improving health and well-being of children with Prader-Willi syndrome and their families.
Mackay J, McCallum Z, Ambler GR, Vora K, Nixon G, Bergman P, Shields N, Milner K, Kapur N, Crock P, Caudri D, Curran J, Verge C, Seton C, Tai A, Tham E, Musthaffa Y, Lafferty AR, Blecher G, Harper J, Schofield C, Nielsen A, Wilson A, Leonard H, Choong CS, Downs J. Mackay J, et al. Among authors: crock p. J Paediatr Child Health. 2019 Sep;55(9):1029-1037. doi: 10.1111/jpc.14546. Epub 2019 Jun 30. J Paediatr Child Health. 2019. PMID: 31257692 Free PMC article. Review.
Arginine vasopressin in Cushing's disease.
Wittert GA, Crock PA, Donald RA, Gilford EJ, Boolell M, Alford FP, Espiner EA. Wittert GA, et al. Among authors: crock pa. Lancet. 1990 Apr 28;335(8696):991-4. doi: 10.1016/0140-6736(90)91063-g. Lancet. 1990. PMID: 1970107 Clinical Trial.
Growth Hormone Improves Cognitive Function After Experimental Stroke.
Ong LK, Chow WZ, TeBay C, Kluge M, Pietrogrande G, Zalewska K, Crock P, Åberg ND, Bivard A, Johnson SJ, Walker FR, Nilsson M, Isgaard J. Ong LK, et al. Among authors: crock p. Stroke. 2018 May;49(5):1257-1266. doi: 10.1161/STROKEAHA.117.020557. Epub 2018 Apr 10. Stroke. 2018. PMID: 29636425
Inferior petrosal sinus sampling in acromegaly.
Crock PA, Gilford EJ, Henderson JK, Cummins J, Calenti AJ, Best JD, Alford FP. Crock PA, et al. Aust N Z J Med. 1989 Jun;19(3):244-7. doi: 10.1111/j.1445-5994.1989.tb00254.x. Aust N Z J Med. 1989. PMID: 2775044
Daytime sleepiness and emotional and behavioral disturbances in Prader-Willi syndrome.
Choong CS, Nixon GM, Blackmore AM, Chen W, Jacoby P, Leonard H, Lafferty AR, Ambler G, Kapur N, Bergman PB, Schofield C, Seton C, Tai A, Tham E, Vora K, Crock P, Verge C, Musthaffa Y, Blecher G, Wilson A, Downs J. Choong CS, et al. Among authors: crock p. Eur J Pediatr. 2022 Jun;181(6):2491-2500. doi: 10.1007/s00431-022-04439-2. Epub 2022 Mar 22. Eur J Pediatr. 2022. PMID: 35316366 Free PMC article.
Spontaneous and tetracosactide-induced anti-ACTH antibodies in man.
Gan EH, MacArthur K, Mitchell AL, Joshi A, Crock P, Pearce SH. Gan EH, et al. Among authors: crock p. Clin Endocrinol (Oxf). 2016 Apr;84(4):489-95. doi: 10.1111/cen.12795. Epub 2015 Jun 25. Clin Endocrinol (Oxf). 2016. PMID: 25880719 Free PMC article.
84 results