关注
Joy D. Cogan
Joy D. Cogan
Vanderbilt University Medical Center
在 vanderbilt.edu 的电子邮件经过验证
标题
引用次数
引用次数
年份
Telomerase mutations in families with idiopathic pulmonary fibrosis
MY Armanios, JJL Chen, JD Cogan, JK Alder, RG Ingersoll, C Markin, ...
New England Journal of Medicine 356 (13), 1317-1326, 2007
15762007
Short telomeres are a risk factor for idiopathic pulmonary fibrosis
JK Alder, JJL Chen, L Lancaster, S Danoff, S Su, JD Cogan, I Vulto, M Xie, ...
Proceedings of the National Academy of Sciences 105 (35), 13051-13056, 2008
8872008
Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis
TE Fingerlin, E Murphy, W Zhang, AL Peljto, KK Brown, MP Steele, ...
Nature genetics 45 (6), 613-620, 2013
8062013
Mutations in PROP1 cause familial combined pituitary hormone deficiency
W Wu, JD Cogan, RW Pfäffle, JS Dasen, H Frisch, SM O'Connell, ...
Nature genetics 18 (2), 147-149, 1998
6711998
High frequency of BMPR2 exonic deletions/duplications in familial pulmonary arterial hypertension
JD Cogan, MW Pauciulo, AP Batchman, MA Prince, IM Robbins, ...
American journal of respiratory and critical care medicine 174 (5), 590-598, 2006
2792006
Alterations in oestrogen metabolism: implications for higher penetrance of familial pulmonary arterial hypertension in females
ED Austin, JD Cogan, JD West, LK Hedges, R Hamid, EP Dawson, ...
European Respiratory Journal 34 (5), 1093-1099, 2009
2782009
The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency
JD Cogan, W Wu, JA Phillips III, IJP Arnhold, A Agapito, OV Fofanova, ...
The Journal of Clinical Endocrinology & Metabolism 83 (9), 3346-3349, 1998
2631998
Rare variants in RTEL1 are associated with familial interstitial pneumonia
JD Cogan, JA Kropski, M Zhao, DB Mitchell, L Rives, C Markin, ET Garnett, ...
American journal of respiratory and critical care medicine 191 (6), 646-655, 2015
2042015
Impaired adrenocorticotropin-adrenal axis in combined pituitary hormone deficiency caused by a two-base pair deletion (301–302delAG) in the prophet of Pit-1 gene
F Pernasetti, SPA Toledo, VV Vasilyev, CY Hayashida, JD Cogan, ...
The Journal of Clinical Endocrinology & Metabolism 85 (1), 390-397, 2000
1902000
Inherited human cPLA deficiency is associated with impaired eicosanoid biosynthesis, small intestinal ulceration, and platelet dysfunction
DH Adler, JD Cogan, JA Phillips, N Schnetz-Boutaud, GL Milne, T Iverson, ...
The Journal of clinical investigation 118 (6), 2121-2131, 2008
1892008
Extensive phenotyping of individuals at risk for familial interstitial pneumonia reveals clues to the pathogenesis of interstitial lung disease
JA Kropski, JM Pritchett, DF Zoz, PF Crossno, C Markin, ET Garnett, ...
American journal of respiratory and critical care medicine 191 (4), 417-426, 2015
1662015
Gross BMPR2 gene rearrangements constitute a new cause for primary pulmonary hypertension
JD Cogan, CL Vnencak-Jones, JA Phillips III, KB Lane, LA Wheeler, ...
Genetics in Medicine 7 (3), 169-174, 2005
1622005
A novel dyskerin (DKC1) mutation is associated with familial interstitial pneumonia
JA Kropski, DB Mitchell, C Markin, VV Polosukhin, L Choi, JE Johnson, ...
Chest 146 (1), e1-e7, 2014
1562014
Gene expression in BMPR2 mutation carriers with and without evidence of pulmonary arterial hypertension suggests pathways relevant to disease penetrance
J West, J Cogan, M Geraci, L Robinson, J Newman, JA Phillips, K Lane, ...
BMC medical genomics 1, 1-11, 2008
1502008
A novel mechanism of aberrant pre-mRNA splicing in humans
JD Cogan, MA Prince, S Lekhakula, S Bundey, A Futrakul, EMS McCarthy, ...
Human Molecular Genetics 6 (6), 909-912, 1997
1421997
Penetrance of pulmonary arterial hypertension is modulated by the expression of normal BMPR2 allele
R Hamid, JD Cogan, LK Hedges, E Austin, JA Phillips III, JH Newman, ...
Human mutation 30 (4), 649-654, 2009
1372009
Familial growth hormone deficiency: a model of dominant and recessive mutations affecting a monomeric protein
JD Cogan, JA Phillips 3rd, SS Schenkman, RD Milner, N Sakati
The Journal of Clinical Endocrinology & Metabolism 79 (5), 1261-1265, 1994
1361994
Ancestral mutation in telomerase causes defects in repeat addition processivity and manifests as familial pulmonary fibrosis
JK Alder, JD Cogan, AF Brown, CJ Anderson, WE Lawson, PM Lansdorp, ...
PLoS genetics 7 (3), e1001352, 2011
1302011
A recurring dominant negative mutation causes autosomal dominant growth hormone deficiency--a clinical research center study
JD Cogan, B Ramel, M Lehto, J Phillips 3rd, M Prince, RM Blizzard, ...
The Journal of Clinical Endocrinology & Metabolism 80 (12), 3591-3595, 1995
1191995
Heterogeneous growth hormone (GH) gene mutations in familial GH deficiency.
JD Cogan, JA Phillips 3rd, N Sakati, H Frisch, E Schober, RD Milner
The Journal of Clinical Endocrinology & Metabolism 76 (5), 1224-1228, 1993
1191993
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