Resultats de la cerca - Joy D. Cogan

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  1. 1
    The PROP1 2-Base Pair Deletion Is a Common Cause of Combined Pituitary Hormone Deficiency

    The PROP1 2-Base Pair Deletion Is a Common Cause of Combined Pituitary Hormone Deficiency per Joy D. Cogan

    Publicat 1998
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  2. 2
    HACER: an atlas of human active enhancers to interpret regulatory variants

    HACER: an atlas of human active enhancers to interpret regulatory variants per Jing Wang, Xizhen Dai, Lynne D. Berry, Joy D. Cogan, Qi Liu, Yu Shyr

    Publicat 2018
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  3. 3
    Lessons learned: next-generation sequencing applied to undiagnosed genetic diseases

    Lessons learned: next-generation sequencing applied to undiagnosed genetic diseases per Bryce Schuler, Erica T. Nelson, Mary Koziura, Joy D. Cogan, Rizwan Hamid, John A. Phillips

    Publicat 2022
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  4. 4
    Role of <i>BMPR2</i> Alternative Splicing in Heritable Pulmonary Arterial Hypertension Penetrance

    Role of <i>BMPR2</i> Alternative Splicing in Heritable Pulmonary Arterial Hypertension Penetrance per Joy D. Cogan, Eric D. Austin, Lora K. Hedges, Bethany Womack, James West, James E. Loyd, Rizwan Hamid

    Publicat 2012
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  5. 5
    A Novel Mechanism of Aberrant Pre-mRNA Splicing in Humans

    A Novel Mechanism of Aberrant Pre-mRNA Splicing in Humans per Joy D. Cogan, Melissa Prince, Somsong Lekhakula, Sarah Bundey, Aree Futrakul, Eleanor M. S. McCarthy, John A. Phillips

    Publicat 1997
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  6. 6
    Identifying digenic disease genes via machine learning in the Undiagnosed Diseases Network

    Identifying digenic disease genes via machine learning in the Undiagnosed Diseases Network per Souhrid Mukherjee, Joy D. Cogan, John H. Newman, John A. Phillips, Rizwan Hamid, Jens Meiler, John A. Capra

    Publicat 2021
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  7. 7
    Penetrance of pulmonary arterial hypertension is modulated by the expression of normal<i>BMPR2</i>allele

    Penetrance of pulmonary arterial hypertension is modulated by the expression of normal<i>BMPR2</i>allele per Rizwan Hamid, Joy D. Cogan, Lora K. Hedges, Eric D. Austin, John A. Phillips, John H. Newman, James E. Loyd

    Publicat 2009
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  8. 8
    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<sup>1</sup>

    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<sup>1</sup> per Flavia Pernasetti, S. P. A. Toledo, Vyacheslav V. Vasilyev, C Y Hayashida, Joy D. Cogan, Carmela Ferrari, Delmar Muniz Lourenço, Pamela L. Mellon

    Publicat 2000
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  9. 9
    Gene expression in BMPR2 mutation carriers with and without evidence of Pulmonary Arterial Hypertension suggests pathways relevant to disease penetrance

    Gene expression in BMPR2 mutation carriers with and without evidence of Pulmonary Arterial Hypertension suggests pathways relevant to disease penetrance per James West, Joy D. Cogan, Mark W. Geraci, Linda Robinson, John H. Newman, John A. Phillips, Kirk B. Lane, Barbara Meyrick, James E. Loyd

    Publicat 2008
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  10. 10
    Clinical and molecuar characterization of Brazilian patients with growth hormone gene deletions

    Clinical and molecuar characterization of Brazilian patients with growth hormone gene deletions per Ivo J.P. Arnhold, M G F Osorio, S B Oliveira, Vivian Estefan, Takashi Kamijo, M.R.S. Krishnamani, Joy D. Cogan, John A. Phillips, Berenice B. Mendonça

    Publicat 1998
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  11. 11
    Alterations in oestrogen metabolism: implications for higher penetrance of familial pulmonary arterial hypertension in females

    Alterations in oestrogen metabolism: implications for higher penetrance of familial pulmonary arterial hypertension in females per Eric D. Austin, Joy D. Cogan, James West, Lora K. Hedges, Rizwan Hamid, E.P. Dawson, Lisa Wheeler, Fritz F. Parl, James E. Loyd, John A. Phillips

    Publicat 2009
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  12. 12
    The PROP1 2-Base Pair Deletion Is a Common Cause of Combined Pituitary Hormone Deficiency1

    The PROP1 2-Base Pair Deletion Is a Common Cause of Combined Pituitary Hormone Deficiency1 per Joy D. Cogan, Wei Wu, John A. Phillips, Ivo J.P. Arnhold, Ana Agapito, О. В. Фофанова, Maria Geralda Farah Osório, İffet Bircan, Adolfo Moreno, Berenice B. Mendonça

    Publicat 1998
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  13. 13
    Synergistic heterozygosity for TGFβ1 SNPs and BMPR2 mutations modulates the age at diagnosis and penetrance of familial pulmonary arterial hypertension

    Synergistic heterozygosity for TGFβ1 SNPs and BMPR2 mutations modulates the age at diagnosis and penetrance of familial pulmonary arterial hypertension per John A. Phillips, Justin Poling, Charles Phillips, Krista C. Stanton, Eric D. Austin, Joy D. Cogan, Lisa Wheeler, Chang Yu, John H. Newman, Harry C. Dietz, James E. Loyd

    Publicat 2008
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  14. 14
    Truncating and missense BMPR2 mutations differentially affect the severity of heritable pulmonary arterial hypertension

    Truncating and missense BMPR2 mutations differentially affect the severity of heritable pulmonary arterial hypertension per Eric D. Austin, John A. Phillips, Joy D. Cogan, Rizwan Hamid, Chang Yu, Krista C. Stanton, Charles Phillips, Lisa Wheeler, Ivan M. Robbins, John H. Newman, James E. Loyd

    Publicat 2009
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  15. 15
    Bone Marrow–derived Cells Contribute to the Pathogenesis of Pulmonary Arterial Hypertension

    Bone Marrow–derived Cells Contribute to the Pathogenesis of Pulmonary Arterial Hypertension per Yan Ling, Xinping Chen, Megha Talati, Bethany Womack Nunley, Santhi Gladson, Tom Blackwell, Joy D. Cogan, Eric D. Austin, Ferrin C. Wheeler, James E. Loyd, James West, Rizwan Hamid

    Publicat 2015
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  16. 16
    A Novel Dyskerin ( DKC1 ) Mutation Is Associated With Familial Interstitial Pneumonia

    A Novel Dyskerin ( DKC1 ) Mutation Is Associated With Familial Interstitial Pneumonia per Jonathan A. Kropski, Daphne B. Mitchell, Cheryl Markin, Vasiliy V. Polosukhin, Leena Choi, Joyce E. Johnson, William E. Lawson, John A. Phillips, Joy D. Cogan, Timothy S. Blackwell, James E. Loyd

    Publicat 2014
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  17. 17
    Ancestral Mutation in Telomerase Causes Defects in Repeat Addition Processivity and Manifests As Familial Pulmonary Fibrosis

    Ancestral Mutation in Telomerase Causes Defects in Repeat Addition Processivity and Manifests As Familial Pulmonary Fibrosis per Jonathan K. Alder, Joy D. Cogan, Andrew F. Brown, Collin J. Anderson, William E. Lawson, Peter M. Lansdorp, John A. Phillips, James E. Loyd, Julian J.‐L. Chen, Mary Armanios

    Publicat 2011
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  18. 18
    Loss-of-function thrombospondin-1 mutations in familial pulmonary hypertension

    Loss-of-function thrombospondin-1 mutations in familial pulmonary hypertension per James P. Maloney, Robert S. Stearman, Todd Bull, David W. Calabrese, Megan L. Tripp-Addison, Marilee J. Wick, Ulrich Broeckel, Ivan M. Robbins, Lisa Wheeler, Joy D. Cogan, James E. Loyd

    Publicat 2011
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  19. 19
    High Frequency of <i>BMPR2</i> Exonic Deletions/Duplications in Familial Pulmonary Arterial Hypertension

    High Frequency of <i>BMPR2</i> Exonic Deletions/Duplications in Familial Pulmonary Arterial Hypertension per Joy D. Cogan, Michael W. Pauciulo, Amy P. Batchman, Melissa Prince, Ivan M. Robbins, Lora K. Hedges, Krista C. Stanton, Lisa Wheeler, John A. Phillips, James E. Loyd, William C. Nichols

    Publicat 2006
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  20. 20
    Increased prevalence of EPAS1 variant in cattle with high-altitude pulmonary hypertension

    Increased prevalence of EPAS1 variant in cattle with high-altitude pulmonary hypertension per John H. Newman, Timothy N. Holt, Joy D. Cogan, Bethany Womack, John A. Phillips, Chun Li, Zachary Kendall, Kurt R. Stenmark, Milton Thomas, R. Dale Brown, Suzette Riddle, James West, Rizwan Hamid

    Publicat 2015
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