Kay T - Search Results

1

Early onset obesity due to a mutation in the human leptin receptor gene.

Chaves C, Kay T, Anselmo J. Chaves C, et al. Among authors: kay t. Endocrinol Diabetes Metab Case Rep. 2022 Aug 1;2022:21-0124. doi: 10.1530/EDM-21-0124. Online ahead of print. Endocrinol Diabetes Metab Case Rep. 2022. PMID: 36001025 Free PMC article.

2

Resistance to thyroid hormone does not abrogate the transient thyrotoxicosis associated with gestation: report of a case.

Anselmo J, Kay T, Dennis K, Szmulewitz R, Refetoff S, Weiss RE. Anselmo J, et al. Among authors: kay t. J Clin Endocrinol Metab. 2001 Sep;86(9):4273-5. doi: 10.1210/jcem.86.9.7858. J Clin Endocrinol Metab. 2001. PMID: 11549661

3

Mutation of the MIF type II receptor in two brothers.

Rosal-Gonçalves M, Almeida C, Barber J, Kay T, Limbert C, Lopes L, Fonseca G. Rosal-Gonçalves M, et al. Among authors: kay t. J Pediatr Endocrinol Metab. 2010 Mar;23(3):315-7. doi: 10.1515/jpem.2010.23.3.315. J Pediatr Endocrinol Metab. 2010. PMID: 20480734

4

Dyskeratosis congenita--two siblings with a new missense mutation in the DKC1 gene.

Coelho JD, Lestre S, Kay T, Lopes MJ, Fiadeiro T, Apetato M. Coelho JD, et al. Among authors: kay t. Pediatr Dermatol. 2011 Jul-Aug;28(4):464-6. doi: 10.1111/j.1525-1470.2010.01299.x. Epub 2011 Jul 8. Pediatr Dermatol. 2011. PMID: 21736606

5

Blood transcriptome sequencing identifies biomarkers able to track disease stages in spinocerebellar ataxia type 3.

Raposo M, Hübener-Schmid J, Ferreira AF, Vieira Melo AR, Vasconcelos J, Pires P, Kay T, Garcia-Moreno H, Giunti P, Santana MM, Pereira de Almeida L, Infante J, van de Warrenburg BP, de Vries JJ, Faber J, Klockgether T, Casadei N, Admard J, Schöls L; European Spinocerebellar ataxia type 3/Machado-Joseph disease Initiative (ESMI) study group; Riess O, Lima M. Raposo M, et al. Among authors: kay t. Brain. 2023 Oct 3;146(10):4132-4143. doi: 10.1093/brain/awad128. Brain. 2023. PMID: 37071051

6

CYP21A2 mutations in Portuguese patients with congenital adrenal hyperplasia: identification of two novel mutations and characterization of four different partial gene conversions.

Friães A, Rêgo AT, Aragüés JM, Moura LF, Mirante A, Mascarenhas MR, Kay TT, Lopes LA, Rodrigues JC, Guerra S, Dias T, Teles AG, Gonçalves J. Friães A, et al. Among authors: kay tt. Mol Genet Metab. 2006 May;88(1):58-65. doi: 10.1016/j.ymgme.2005.11.015. Epub 2006 Jan 20. Mol Genet Metab. 2006. PMID: 16427797

7

Psychological well-being and family satisfaction levels five years after being confirmed as a carrier of the Machado-Joseph disease mutation.

Gonzalez C, Gomes E, Kazachkova N, Bettencourt C, Raposo M, Kay TT, MacLeod P, Vasconcelos J, Lima M. Gonzalez C, et al. Genet Test Mol Biomarkers. 2012 Dec;16(12):1363-8. doi: 10.1089/gtmb.2011.0370. Genet Test Mol Biomarkers. 2012. PMID: 23153003 Free PMC article.

8

Nystagmus as an early ocular alteration in Machado-Joseph disease (MJD/SCA3).

Raposo M, Vasconcelos J, Bettencourt C, Kay T, Coutinho P, Lima M. Raposo M, et al. Among authors: kay t. BMC Neurol. 2014 Jan 22;14:17. doi: 10.1186/1471-2377-14-17. BMC Neurol. 2014. PMID: 24450306 Free PMC article.

9

Short-term psychological impact of predictive testing for Machado-Joseph disease: depression and anxiety levels in individuals at risk from the Azores (Portugal).

Gonzalez C, Lima M, Kay T, Silva C, Santos C, Santos J. Gonzalez C, et al. Among authors: kay t. Community Genet. 2004;7(4):196-201. doi: 10.1159/000082262. Community Genet. 2004. PMID: 15692194

10

Parkinsonian phenotype in Machado-Joseph disease (MJD/SCA3): a two-case report.

Bettencourt C, Santos C, Coutinho P, Rizzu P, Vasconcelos J, Kay T, Cymbron T, Raposo M, Heutink P, Lima M. Bettencourt C, et al. Among authors: kay t. BMC Neurol. 2011 Oct 24;11:131. doi: 10.1186/1471-2377-11-131. BMC Neurol. 2011. PMID: 22023810 Free PMC article.

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