siRNA therapeutics: big potential from small RNAs von Ryther, R C C, Flynt, A S, Phillips, J A, Patton, J G

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Alterations in oestrogen metabolism: implications for higher penetrance of familial pulmonary arterial hypertension in females von 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

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Telomerase Mutations in Families with Idiopathic Pulmonary Fibrosis von 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

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22q13.3 deletion syndrome: Clinical and molecular analysis using array CGH von Dhar, S.U., del Gaudio, D., German, J.R., Peters, S.U., Ou, Z., Bader, P.I., Berg, J.S., Blazo, M., Brown, C.W., Graham, B.H., Grebe, T.A., Lalani, S., Irons, M., Sparagana, S., Williams, M., Phillips III, J.A., Beaudet, A.L., Stankiewicz, P., Patel, A., Cheung, S.W., Sahoo, T.

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Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies von Reis, L. M., Tyler, R. C., Weh, E., Hendee, K. E., Schilter, K. F., Phillips III, J. A., Sequeira, S., Schinzel, A., Semina, E. V.

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Heterozygous germline mutations in BMPR2 , encoding a TGF-β receptor, cause familial primary pulmonary hypertension von Lane, Kirk B, Machado, Rajiv D, Pauciulo, Michael W, Thomson, Jennifer R, Phillips, John A, Loyd, James E, Nichols, William C, Trembath, Richard C

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Mutation in the Gene for Bone Morphogenetic Protein Receptor II as a Cause of Primary Pulmonary Hypertension in a Large Kindred von Newman, John H, Wheeler, Lisa, Lane, Kirk B, Loyd, Emily, Loyd, James E, Gaddipati, Radhika, Phillips, John A

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Mutations in PROP1 cause familial combined pituitary hormone deficiency von Wu, Wei, Cogan, Joy D., Pfäffle, Roland W., Dasen, Jeremy S., Frisch, Herwig, O'Connell, Shawn M., Flynn, Sarah E., Brown, Milton R., Mullis, Primus E., Parks, John S., Phillips III, John A., Rosenfeld, Michael G.

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Role of the Angiotensin Type 2 Receptor Gene in Congenital Anomalies of the Kidney and Urinary Tract, CAKUT, of Mice and Men von Nishimura, Hideki, Yerkes, Elizabeth, Hohenfellner, Katharina, Miyazaki, Yoichi, Ma, Ji, Hunley, Tracy E, Yoshida, Hiroaki, Ichiki, Toshihiro, Threadgill, David, Phillips, John A, Hogan, Brigid M.L, Fogo, Agnes, Brock, John W, Inagami, Tadashi, Ichikawa, Iekuni

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Transcripts from a novel BMPR2 termination mutation escape nonsense mediated decay by downstream translation re-initiation: implications for treating pulmonary hypertension von Hamid, R, Hedges, LK, Austin, E, Phillips III, JA, Loyd, JE, Cogan, JD

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Gross BMPR2 gene rearrangements constitute a new cause for primary pulmonary hypertension von 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.

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Familial dwarfism due to a novel mutation of the growth hormone-releasing hormone receptor gene von SALVATORI, R, HAYASHIDA, C. Y, BAUMANN, G, LEVINE, M. A, AGUIAR-OLIVEIRA, M. H, PHILLIPS, J. A, SOUZA, A. H. O, GONDO, R. G, TOLEDO, S. P. A, CONCEICAO, M. M, PRINCE, M, MAHESHWARI, H. G

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The molecular genetics of growth hormone deficiency von PROCTER, A. M, PHILLIPS, J. A, COOPER, D. N

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Localization of the gene for familial primary pulmonary hypertension to chromosome 2q31-32 von Nichols, William C, Koller, Daniel L, Slovis, Bonnie, Foroud, Tatiana, Terry, Valeri H, Arnold, Nathan D, Siemieniak, David R, Wheeler, Lisa, Phillips, John A, Newman, John H, Conneally, P. Michael, Ginsburg, David, Loyd, James E

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Isolated growth hormone deficiency type II caused by a point mutation that alters both splice site strength and splicing enhancer function von Shariat, N, Holladay, CD, Cleary, RK, Phillips III, JA, Patton, JG

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Characterization of an Intron Splice Enhancer that Regulates Alternative Splicing of Human GH Pre-mRNA von McCarthy, Eleanor M. S., Phillips, John A.

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Synergistic heterozygosity for TGF[beta]1 SNPs and BMPR2 mutations modulates the age at diagnosis and penetrance of familial pulmonary arterial hypertension von Phillips, JA III, Poling, J S, Phillips, CA, Stanton, K C, Austin, ED, Cogan, J D, Wheeler, L, Yu, C, Newman, J H, Dietz, H C, Loyd, JE

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Lack of interest by nonpregnant couples in population-based cystic fibrosis carrier screening von CLAYTON, E. W, HANNIG, V. L, PFOTENHAUER, J. P, PARKER, R. A, CAMPBELL, P. W, PHILLIPS, J. A

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A Novel Arginine Vasopressin-Neurophysin II Mutation Causes Autosomal Dominant Neurohypophyseal Diabetes insipidus and Morphologic Pituitary Changes von Skordis, Nicos, Patsalis, Philippos C., Hettinger, Joe A., Kontou, Maria, Herakleous, Eleni, Krishnamani, M.R.S., Phillips III, J.A.

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Hot Spots for Growth Hormone Gene Deletions in Homologous Regions Outside of Alu Repeats von Vnencak-Jones, Cindy L., Phillips, John A.

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