Stratakis CA - Search Results

1

Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report.

Brooks BP, Kleta R, Caruso RC, Stuart C, Ludlow J, Stratakis CA. Brooks BP, et al. Among authors: stratakis ca. BMC Ophthalmol. 2004 Jun 24;4:7. doi: 10.1186/1471-2415-4-7. BMC Ophthalmol. 2004. PMID: 15217518 Free PMC article.

2

Segregation of Allgrove (triple-A) syndrome in Puerto Rican kindreds with chromosome 12 (12q13) polymorphic markers.

Stratakis CA, Lin JP, Pras E, Rennert OM, Bourdony CJ, Chan WY. Stratakis CA, et al. Proc Assoc Am Physicians. 1997 Sep;109(5):478-82. Proc Assoc Am Physicians. 1997. PMID: 9285947

3

Spectrum of mutations of the AAAS gene in Allgrove syndrome: lack of mutations in six kindreds with isolated resistance to corticotropin.

Sandrini F, Farmakidis C, Kirschner LS, Wu SM, Tullio-Pelet A, Lyonnet S, Metzger DL, Bourdony CJ, Tiosano D, Chan WY, Stratakis CA. Sandrini F, et al. Among authors: stratakis ca. J Clin Endocrinol Metab. 2001 Nov;86(11):5433-7. doi: 10.1210/jcem.86.11.8037. J Clin Endocrinol Metab. 2001. PMID: 11701718

4

Triple A syndrome: two siblings with a novel mutation in the AAAS gene.

Bouliari A, Lu X, Persky RW, Stratakis CA. Bouliari A, et al. Among authors: stratakis ca. Hormones (Athens). 2019 Mar;18(1):109-112. doi: 10.1007/s42000-018-0089-2. Epub 2019 Jan 5. Hormones (Athens). 2019. PMID: 30612286 Free PMC article.

5

Nelson's syndrome associated with a somatic frame shift mutation in the glucocorticoid receptor gene.

Karl M, Von Wichert G, Kempter E, Katz DA, Reincke M, Mönig H, Ali IU, Stratakis CA, Oldfield EH, Chrousos GP, Schulte HM. Karl M, et al. Among authors: stratakis ca. J Clin Endocrinol Metab. 1996 Jan;81(1):124-9. doi: 10.1210/jcem.81.1.8550738. J Clin Endocrinol Metab. 1996. PMID: 8550738

6

Dideoxyfingerprinting (ddF) analysis of the type X collagen gene (COL10A1) and identification of a novel mutation (S671P) in a kindred with Schmid metaphyseal chondrodysplasia.

Stratakis CA, Orban Z, Burns AL, Vottero A, Mitsiades CS, Marx SJ, Abbassi V, Chrousos GP. Stratakis CA, et al. Biochem Mol Med. 1996 Dec;59(2):112-7. doi: 10.1006/bmme.1996.0075. Biochem Mol Med. 1996. PMID: 8986632 Free article.

7

Clinical and molecular features of the Carney complex: diagnostic criteria and recommendations for patient evaluation.

Stratakis CA, Kirschner LS, Carney JA. Stratakis CA, et al. J Clin Endocrinol Metab. 2001 Sep;86(9):4041-6. doi: 10.1210/jcem.86.9.7903. J Clin Endocrinol Metab. 2001. PMID: 11549623 Review.

8

Lack of mutations in the gene coding for the hGR (NR3C1) in a pediatric patient with ACTH-secreting pituitary adenoma, absence of stigmata of Cushing's syndrome and unusual histologic features.

Briassoulis G, Horvath A, Christoforou P, Lodish M, Xekouki P, Quezado M, Patronas N, Keil MF, Stratakis CA. Briassoulis G, et al. Among authors: stratakis ca. J Pediatr Endocrinol Metab. 2012;25(1-2):213-9. doi: 10.1515/jpem.2011.371. J Pediatr Endocrinol Metab. 2012. PMID: 22570980 Free PMC article.

9

Index of suspicion. Case 2. Wiedemann-Beckwith syndrome.

Stratakis CA. Stratakis CA. Pediatr Rev. 1995 Nov;16(11):433, 434-5. Pediatr Rev. 1995. PMID: 8539195 No abstract available.

10

[Primary pigmented nodular adrenocortical dysplasia (PPNAD) within the scope of Carney complex as the etiology of Cushing syndrome].

Koch CA, Bornstein SR, Chrousos GP, Stratakis CA. Koch CA, et al. Among authors: stratakis ca. Med Klin (Munich). 2000 Apr 15;95(4):224-30. doi: 10.1007/pl00002112. Med Klin (Munich). 2000. PMID: 10808306 German.

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