Alterations in oestrogen metabolism: implications for higher penetrance of familial pulmonary arterial hypertension in females
Austin, E. D, Cogan, J. D, West, J. D, Hedges, L. K, Hamid, R, Dawson, E. P, Wheeler, L. A, Parl, F. F, Loyd, J. E, Phillips, J. A., III
Published in The European respiratory journal (01.11.2009)
Published in The European respiratory journal (01.11.2009)
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Journal Article
Transcripts from a novel BMPR2 termination mutation escape nonsense mediated decay by downstream translation re-initiation: implications for treating pulmonary hypertension
Hamid, R, Hedges, LK, Austin, E, Phillips III, JA, Loyd, JE, Cogan, JD
Published in Clinical genetics (01.03.2010)
Published in Clinical genetics (01.03.2010)
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Journal Article
Mutations in PROP1 cause familial combined pituitary hormone deficiency
WEI WU, COGAN, J. D, PHILLIPS, J. A, ROSENFELD, M. G, PFÄFFLE, R. W, DASEN, J. S, FRISCH, H, O'CONNELL, S. M, FLYNN, S. E, BROWN, M. R, MULLIS, P. E, PARKS, J. S
Published in Nature genetics (01.02.1998)
Published in Nature genetics (01.02.1998)
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Journal Article
The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency
Cogan, J D, Wu, W, Phillips, 3rd, J A, Arnhold, I J, Agapito, A, Fofanova, O V, Osorio, M G, Bircan, I, Moreno, A, Mendonca, B B
Published in The journal of clinical endocrinology and metabolism (01.09.1998)
Published in The journal of clinical endocrinology and metabolism (01.09.1998)
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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
PERNASETTI, F, TOLEDO, S. P. A, VASILYEV, V. V, HAYASHIDA, C. Y, COGAN, J. D, FERRARI, C, LOURENCO, D. M, MELLON, P. L
Published in The journal of clinical endocrinology and metabolism (2000)
Published in The journal of clinical endocrinology and metabolism (2000)
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A recurring dominant negative mutation causes autosomal dominant growth hormone deficiency--a clinical research center study
Cogan, J D, Ramel, B, Lehto, M, Phillips, 3rd, J, Prince, M, Blizzard, R M, de Ravel, T J, Brammert, M, Groop, L
Published in The journal of clinical endocrinology and metabolism (01.12.1995)
Published in The journal of clinical endocrinology and metabolism (01.12.1995)
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Journal Article
Heterogeneous growth hormone (GH) gene mutations in familial GH deficiency
Cogan, J D, Phillips, 3rd, J A, Sakati, N, Frisch, H, Schober, E, Milner, R D
Published in The journal of clinical endocrinology and metabolism (01.05.1993)
Published in The journal of clinical endocrinology and metabolism (01.05.1993)
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Journal Article
A Novel Mechanism of Aberrant Pre-mRNA Splicing in Humans
Cogan, Joy D., Prince, Melissa A., Lekhakula, Somsong, Bundey, Sarah, Futrakul, Aree, McCarthy, Eleanor M. S., Phillips, John A.
Published in Human molecular genetics (01.06.1997)
Published in Human molecular genetics (01.06.1997)
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Effect of Process Management on the Emission of Organosulfur Compounds and Gaseous Antecedents from Composting Processes
VanderGheynst, Jean S, Cogan, Daniel J, DeFelice, Perry J, Gossett, James M, Walker, Larry P
Published in Environmental science & technology (01.12.1998)
Published in Environmental science & technology (01.12.1998)
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Journal Article
Gross BMPR2 gene rearrangements constitute a new cause for primary pulmonary hypertension
Cogan, Joy D., Vnencak-Jones, Cindy L., Phillips, John A., Lane, Kirk B., Wheeler, Lisa A., Robbins, Ivan M., Garrison, Gladys, Hedges, Lora K., Loyd, James E.
Published in Genetics in medicine (01.03.2005)
Published in Genetics in medicine (01.03.2005)
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Journal Article
Clinical and molecular characterization of Brazilian patients with growth hormone gene deletions
Arnhold, I J, Osorio, M G, Oliveira, S B, Estefan, V, Kamijo, T, Krishnamani, M R, Cogan, J D, Phillips, 3rd, J A, Mendonca, B B
Published in Brazilian journal of medical and biological research (01.04.1998)
Published in Brazilian journal of medical and biological research (01.04.1998)
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Journal Article
7 FIRST DESCRIPTION: CYTOSOLIC PHOSPHOLIPASE A2-a DEFICIENCY
Adler, D. H., Phillips, J. A., Cogan, J. D., Morrow, J. D., Boutaud, O., Oates, J. A.
Published in Journal of investigative medicine (01.01.2006)
Published in Journal of investigative medicine (01.01.2006)
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Journal Article
Telomerase Mutations in Families with Idiopathic Pulmonary Fibrosis
Armanios, Mary Y, Chen, Julian J.-L, Cogan, Joy D, Alder, Jonathan K, Ingersoll, Roxann G, Markin, Cheryl, Lawson, William E, Xie, Mingyi, Vulto, Irma, Phillips, John A, Lansdorp, Peter M, Greider, Carol W, Loyd, James E
Published in The New England journal of medicine (29.03.2007)
Published in The New England journal of medicine (29.03.2007)
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Journal Article
A54 GENETICS AND EPIGENETIC: Complex Regulation Of Bmpr2 Alternative Splicing In Patients With Pulmonary Arterial Hypertension
Hamid, R, Folad, W, Kendall, Z, Loyd, J E, Austin, E D, Cogan, J D
Published in American journal of respiratory and critical care medicine (01.01.2015)
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Published in American journal of respiratory and critical care medicine (01.01.2015)
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D95 EPIGENETICS IN PULMONARY HYPERTENSION: NOVEL MECHANISMS AND TARGETS: Alternative Splicing Of The Bmpr2 Gene Contributes To Disease Penetrance In A Large Family With Heritable Pulmonary Arterial Hypertension
Leedy, M B, Cogan, J D, Hedges, L, Wheeler, L, Loyd, J E, Hamid, R, Austin, E D
Published in American journal of respiratory and critical care medicine (01.01.2014)
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Published in American journal of respiratory and critical care medicine (01.01.2014)
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