Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes von Aldred, M A, Sanford, R O C, Thomas, N S, Barrow, M A, Wilson, L C, Brueton, L A, Bonaglia, M C, Hennekam, R C M, Eng, C, Dennis, N R, Trembath, R C

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Alveolar Epithelial Cells Up-Regulate microRNA-17 & microRNA-548b in Response to Cold Ischemia - Ex Vivo Reperfusion of Human Lungs von Elgharably, H., Okamoto, T., Ayyat, K.S., Niikawa, H., Meade, S., Farver, C., Chan, E., Aldred, M.A., McCurry, K.R.

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Three decades of occupational individual monitoring at the University of São Paulo von Okuno, E, Umisedo, N K, Cancio, F S, Aldred, M A, Yoshimura, E M

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Genomic duplication in Dyggve Melchior Clausen syndrome, a novel mutation mechanism in an autosomal recessive disorder von Kinning, E, Tufarelli, C, Winship, W S, Aldred, M A, Trembath, R C

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Germline mosaicism for a GNAS1 mutation and Albright hereditary osteodystrophy von ALDRED, MICHEALA A, BAGSHAW, R JANE, MACDERMOT, KAY, CASSON, DAVID, MURCH, SIMON H, WALKER-SMITH, J A, TREMBATH, RICHARD C

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Activating and inactivating mutations in the human GNAS1 gene von Aldred, Micheala A., Trembath, Richard C.

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Heterogeneity analysis in 40 X-linked retinitis pigmentosa families von TEAGUE, P. W, ALDRED, M. A, BUNDEY, S, JAY, B, BIRD, A. C, BHATTACHARYA, S. S, WRIGHT, A. F, JAY, M, DEMPSTER, M, HARRISON, C, CAROTHERS, A. D, HARDWICK, L. J, EVANS, H. J, STRAIN, L, BROCK, D. J. H

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Sleep-Related Hypoxia, Right Ventricular Dysfunction, and Survival in Patients With Group 1 Pulmonary Arterial Hypertension von Lowery, Megan M, Hill, Nicholas S, Wang, Lu, Rosenzweig, Erika B, Bhat, Aparna, Erzurum, Serpil, Finet, J Emanuel, Jellis, Christine L, Kaur, Sunjeet, Kwon, Deborah H, Nawabit, Rawan, Radeva, Milena, Beck, Gerald J, Frantz, Robert P, Hassoun, Paul M, Hemnes, Anna R, Horn, Evelyn M, Leopold, Jane A, Rischard, Franz P, Mehra, Reena

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Interstitial deletion constitutes the major mechanism for loss of heterozygosity on chromosome 20q in polycythemia vera von ASIMAKOPOULOS, F. A, GILBERT, J. G. R, ALDRED, M. A, PEARSON, T. C, GREEN, A. R

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The lysosomal inhibitor, chloroquine, increases cell surface BMPR-II levels and restores BMP9 signalling in endothelial cells harbouring BMPR-II mutations von Dunmore, Benjamin J, Drake, Kylie M, Upton, Paul D, Toshner, Mark R, Aldred, Micheala A, Morrell, Nicholas W

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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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How safe is ERCP to the endoscopist ? von COHEN, R. V, ALDRED, M. A, PAES, W. S, FAUSTO, A. M. F, NUCCI, J. R, YOSHIMURA, E. M, OKUNO, E, GARCIA, M. E, MARUTA, L. M, TOLOSA, E. M. C

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A Detailed Physical and Transcriptional Map of the Region of Chromosome 20 That Is Deleted in Myeloproliferative Disorders and Refinement of the Common Deleted Region von Bench, Anthony J., Aldred, Micheala A., Humphray, Sean J., Champion, Kim M., Gilbert, James G.R., Asimakopoulos, Fotios A., Deloukas, Panos, Gwilliam, Rhian, Bentley, David R., Green, Anthony R.

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A54 GENETICS AND EPIGENETIC: The Effect Of Tgf-[Beta] Upregulation On Smad-Mediated Microrna Biogenesis In Pulmonary Arterial Hypertension von Drake, K M, Aldred, M A

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Cleft lip and palate: new genetic clues von Aldred, Micheala A

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A110 LATE BREAKING ABSTRACTS IN DISEASE SUSCEPTIBILITY AND PATHOGENESIS: Distribution Of A Functionally Significant Somatic Deletion Of Chromosome 13 In The Lung Of Associated Pulm... von Drake, K M, Aldred, M A

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Shedding light on endometrial cancer von Aldred, Micheala A

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A54 GENETICS AND EPIGENETIC: Increased Susceptibility To Dna Damaging Agents In Pulmonary Arterial Hypertension Patients And Their Relatives von Aldred, M A, Federici, C, McNelly, L, Drake, K M

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Peroxisome proliferator-activated receptor gamma is frequently downregulated in a diversity of sporadic nonmedullary thyroid carcinomas von Aldred, Micheala A, Morrison, Carl, Gimm, Oliver, Hoang-Vu, Cuong, Krause, Ulf, Dralle, Henning, Jhiang, Sissy, Eng, Charis

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Pseudohypoparathyroidism: new insight into Gsα von Aldred, Micheala A

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