Cogan J - Search Results

1

Clinical heterogeneity of mitochondrial NAD kinase deficiency caused by a NADK2 start loss variant.

Pomerantz DJ, Ferdinandusse S, Cogan J, Cooper DN, Reimschisel T, Robertson A, Bican A, McGregor T, Gauthier J, Millington DS, Andrae JLW, Tschannen MR, Helbling DC, Demos WM, Denis S, Wanders RJA, Newman JN, Hamid R, Phillips JA 3rd; Collaborators of UDN. Pomerantz DJ, et al. Among authors: cogan j. Am J Med Genet A. 2018 Mar;176(3):692-698. doi: 10.1002/ajmg.a.38602. Epub 2018 Feb 1. Am J Med Genet A. 2018. PMID: 29388319 Free PMC article. Review.

2

Phenotypic determinants of adenovirus E1A gene autoregulation: variable region between conserved coding domains 2 and 3.

Hamid R, Cogan JD, Jones SN, Tibbetts C. Hamid R, et al. Among authors: cogan jd. Virology. 1995 Nov 10;213(2):666-70. doi: 10.1006/viro.1995.0039. Virology. 1995. PMID: 7491791 Free article.

3

Familial growth hormone deficiency: a model of dominant and recessive mutations affecting a monomeric protein.

Cogan JD, Phillips JA 3rd, Schenkman SS, Milner RD, Sakati N. Cogan JD, et al. J Clin Endocrinol Metab. 1994 Nov;79(5):1261-5. doi: 10.1210/jcem.79.5.7962317. J Clin Endocrinol Metab. 1994. PMID: 7962317

4

Genetic basis of endocrine disease. 6. Molecular basis of familial human growth hormone deficiency.

Phillips JA 3rd, Cogan JD. Phillips JA 3rd, et al. Among authors: cogan jd. J Clin Endocrinol Metab. 1994 Jan;78(1):11-6. doi: 10.1210/jcem.78.1.8288694. J Clin Endocrinol Metab. 1994. PMID: 8288694 Review. No abstract available.

5

Heterogeneous growth hormone (GH) gene mutations in familial GH deficiency.

Cogan JD, Phillips JA 3rd, Sakati N, Frisch H, Schober E, Milner RD. Cogan JD, et al. J Clin Endocrinol Metab. 1993 May;76(5):1224-8. doi: 10.1210/jcem.76.5.8496314. J Clin Endocrinol Metab. 1993. PMID: 8496314

6

A recurring dominant negative mutation causes autosomal dominant growth hormone deficiency--a clinical research center study.

Cogan JD, Ramel B, Lehto M, Phillips J 3rd, Prince M, Blizzard RM, de Ravel TJ, Brammert M, Groop L. Cogan JD, et al. J Clin Endocrinol Metab. 1995 Dec;80(12):3591-5. doi: 10.1210/jcem.80.12.8530604. J Clin Endocrinol Metab. 1995. PMID: 8530604

7

Genetic mapping of the human pituitary-specific transcriptional factor gene and its analysis in familial panhypopituitary dwarfism.

Raskin S, Cogan JD, Summar ML, Moreno A, Krishnamani MR, Phillips JA 3rd. Raskin S, et al. Among authors: cogan jd. Hum Genet. 1996 Dec;98(6):703-5. doi: 10.1007/s004390050289. Hum Genet. 1996. PMID: 8931705

8

Detection of growth hormone gene defects by dideoxy fingerprinting (ddF).

Miyata I, Cogan JD, Prince MA, Kamijo T, Ogawa M, Phillips JA 3rd. Miyata I, et al. Among authors: cogan jd. Endocr J. 1997 Feb;44(1):149-54. doi: 10.1507/endocrj.44.149. Endocr J. 1997. PMID: 9152628 Free article.

9

A novel mechanism of aberrant pre-mRNA splicing in humans.

Cogan JD, Prince MA, Lekhakula S, Bundey S, Futrakul A, McCarthy EM, Phillips JA 3rd. Cogan JD, et al. Hum Mol Genet. 1997 Jun;6(6):909-12. doi: 10.1093/hmg/6.6.909. Hum Mol Genet. 1997. PMID: 9175738

10

Allelic variations in the human growth hormone-1 gene promoter of growth hormone-deficient patients and normal controls.

Wagner JK, Eblé A, Cogan JD, Prince MA, Phillips JA 3rd, Mullis PE. Wagner JK, et al. Among authors: cogan jd. Eur J Endocrinol. 1997 Nov;137(5):474-81. doi: 10.1530/eje.0.1370474. Eur J Endocrinol. 1997. PMID: 9405026

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