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Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy).
Hartley JL, Zachos NC, Dawood B, Donowitz M, Forman J, Pollitt RJ, Morgan NV, Tee L, Gissen P, Kahr WH, Knisely AS, Watson S, Chitayat D, Booth IW, Protheroe S, Murphy S, de Vries E, Kelly DA, Maher ER. Hartley JL, et al. Among authors: forman j. Gastroenterology. 2010 Jun;138(7):2388-98, 2398.e1-2. doi: 10.1053/j.gastro.2010.02.010. Epub 2010 Feb 20. Gastroenterology. 2010. PMID: 20176027 Free PMC article.
Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidism.
Cangul H, Morgan NV, Forman JR, Saglam H, Aycan Z, Yakut T, Gulten T, Tarim O, Bober E, Cesur Y, Kirby GA, Pasha S, Karkucak M, Eren E, Cetinkaya S, Bas V, Demir K, Yuca SA, Meyer E, Kendall M, Hogler W, Barrett TG, Maher ER. Cangul H, et al. Clin Endocrinol (Oxf). 2010 Nov;73(5):671-7. doi: 10.1111/j.1365-2265.2010.03849.x. Clin Endocrinol (Oxf). 2010. PMID: 20718767
TSHR is the main causative locus in autosomal recessively inherited thyroid dysgenesis.
Cangul H, Aycan Z, Saglam H, Forman JR, Cetinkaya S, Tarim O, Bober E, Cesur Y, Kurtoglu S, Darendeliler F, Bas V, Eren E, Demir K, Kiraz A, Aydin BK, Karthikeyan A, Kendall M, Boelaert K, Shaw NJ, Kirk J, Högler W, Barrett TG, Maher ER. Cangul H, et al. Among authors: forman jr. J Pediatr Endocrinol Metab. 2012;25(5-6):419-26. doi: 10.1515/jpem-2012-0053. J Pediatr Endocrinol Metab. 2012. PMID: 22876533
Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD.
Ricketts CJ, Forman JR, Rattenberry E, Bradshaw N, Lalloo F, Izatt L, Cole TR, Armstrong R, Kumar VK, Morrison PJ, Atkinson AB, Douglas F, Ball SG, Cook J, Srirangalingam U, Killick P, Kirby G, Aylwin S, Woodward ER, Evans DG, Hodgson SV, Murday V, Chew SL, Connell JM, Blundell TL, Macdonald F, Maher ER. Ricketts CJ, et al. Among authors: forman jr. Hum Mutat. 2010 Jan;31(1):41-51. doi: 10.1002/humu.21136. Hum Mutat. 2010. PMID: 19802898
Response by Kristensen et al to Letter Regarding Article, "Half-Life and Clearance of Cardiac Troponin I and Troponin T in Humans".
Kristensen JH, Hasselbalch RB, Strandkjær N, Møller-Sørensen PH, Kamstrup PR, Dahl M, Bor MV, Frikke-Schmidt R, Jørgensen NR, Rode L, Holmvang L, Kjærgaard J, Bang LE, Forman J, Dalhoff K, Jaffe AS, Thygesen K, Bundgaard H, Iversen KK. Kristensen JH, et al. Among authors: forman j. Circulation. 2025 May 27;151(21):e1028-e1029. doi: 10.1161/CIRCULATIONAHA.125.073964. Epub 2025 May 27. Circulation. 2025. PMID: 40424330 No abstract available.
1,199 results