Transcripts from a novel BMPR2 termination mutation escape nonsense mediated decay by downstream translation re-initiation: implications for treating pulmonary hypertensionHAMID, R; HEDGES, L. K; AUSTIN, E et al.Clinical genetics. 2010, Vol 77, Num 3, pp 280-286, issn 0009-9163, 7 p.Article

Mutations in PROP1 cause familial combined pituitary hormone deficiencyWEI WU; COGAN, J. D; PHILLIPS, J. A et al.Nature genetics. 1998, Vol 18, Num 2, pp 147-149, issn 1061-4036Article

Genetic basis of endocrine disease 6 : molecular basis of familial human growth hormone deficiencyPHILLIPS, J. A; COGAN, J. D.The Journal of clinical endocrinology and metabolism. 1994, Vol 78, Num 1, pp 11-16, issn 0021-972XArticle

Heterogeneous growth hormone (GH) gene mutations in familial GH deficiencyCOGAN, J. D; PHILLIPS, J. A; SAKATI, N et al.The Journal of clinical endocrinology and metabolism. 1993, Vol 76, Num 5, pp 1224-1228, issn 0021-972XArticle

Alterations in oestrogen metabolism: implications for higher penetrance of familial pulmonary arterial hypertension in femalesAUSTIN, E. D; COGAN, J. D; WEST, J. D et al.The European respiratory journal. 2009, Vol 34, Num 5, pp 1093-1099, issn 0903-1936, 7 p.Article

Genetic mapping of the human pituitary-specific transcriptional factor gene and its analysis in familial panhypopituitary dwarfismRASKIN, S; COGAN, J. D; SUMMAR, M. J et al.Human genetics. 1996, Vol 98, Num 6, pp 703-705, issn 0340-6717Article

Growth disorders caused by genetic defects in the growth hormone pathwayCOGAN, J. D; PHILLIPS, J. A.Advances in pediatrics. 1998, Vol 45, pp 337-361, issn 0065-3101Article

A novel mechanism of aberrant pre-mRNA splicing in humansCOGAN, J. D; PRINCE, M. A; LEKHAKULA, S et al.Human molecular genetics (Print). 1997, Vol 6, Num 6, pp 909-912, issn 0964-6906Article

Allelic variations in the human growth hormone-1 gene promoter of growth hormone-deficient patients and normal controlsWAGNER, J. K; EBLE, A; COGAN, J. D et al.European journal of endocrinology. 1997, Vol 137, Num 5, pp 474-481, issn 0804-4643Article

Functional diversity of E1A gene autoregulation among human adenovirusesCOGAN, J. D; JONES, S. N; HALL, R. K et al.Journal of virology. 1992, Vol 66, Num 6, pp 3833-3845, issn 0022-538XArticle

Impaired adrenocorticotropin-adrenal axis in combined pituitary hormone deficiency caused by a two-base pair deletion (301-302delAG) in the Prophet of Pit-1 genePERNASETTI, F; TOLEDO, S. P. A; VASILYEV, V. V et al.The Journal of clinical endocrinology and metabolism. 2000, Vol 85, Num 1, pp 390-397, issn 0021-972XArticle

The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiencyCOGAN, J. D; WEI WU; PHILLIPS, J. A et al.The Journal of clinical endocrinology and metabolism. 1998, Vol 83, Num 9, pp 3346-3349, issn 0021-972XArticle

A recurring dominant negative mutation causes autosomal dominant growth hormone deficiency : a clinical research center studyCOGAN, J. D; RAMEL, B; LEHTO, M et al.The Journal of clinical endocrinology and metabolism. 1995, Vol 80, Num 12, pp 3591-3595, issn 0021-972XArticle

Familial growth hormone deficiency : a model of dominant and recessive mutants affecting a monomeric proteinCOGAN, J. D; PHILLIPS, J. A; SCHENKMAN, S. S et al.The Journal of clinical endocrinology and metabolism. 1994, Vol 79, Num 5, pp 1261-1265, issn 0021-972XArticle