Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia von Simpson, MA, Scheuerle, A, Hurst, J, Patton, MA, Stewart, H, Crosby, AH

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Sequence Alterations within CYP7B1 Implicate Defective Cholesterol Homeostasis in Motor-Neuron Degeneration von Tsaousidou, Maria K., Ouahchi, Karim, Warner, Tom T., Yang, Yi, Simpson, Michael A., Laing, Nigel G., Wilkinson, Philip A., Madrid, Ricardo E., Patel, Heema, Hentati, Faycal, Patton, Michael A., Hentati, Afif, Lamont, Philippa J., Siddique, Teepu, Crosby, Andrew H.

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Mutations in FAM20C Are Associated with Lethal Osteosclerotic Bone Dysplasia (Raine Syndrome), Highlighting a Crucial Molecule in Bone Development von Simpson, M.A., Hsu, R., Keir, L.S., Hao, J., Sivapalan, G., Ernst, L.M., Zackai, E.H., Al-Gazali, L.I., Hulskamp, G., Kingston, H.M., Prescott, T.E., Ion, A., Patton, M.A., Murday, V., George, A., Crosby, A.H.

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Mutations in PTPN11 , encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome von Tartaglia, Marco, Mehler, Ernest L, Goldberg, Rosalie, Zampino, Giuseppe, Brunner, Han G, Kremer, Hannie, van der Burgt, Ineke, Crosby, Andrew H, Ion, Andra, Jeffery, Steve, Kalidas, Kamini, Patton, Michael A, Kucherlapati, Raju S, Gelb, Bruce D

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Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase von Crosby, Andrew H, Simpson, Michael A, Cross, Harold, Proukakis, Christos, Priestman, David A, Neville, David C A, Reinkensmeier, Gabriele, Wang, Heng, Wiznitzer, Max, Gurtz, Kay, Verganelaki, Argyro, Pryde, Anna, Patton, Michael A, Dwek, Raymond A, Butters, Terry D, Platt, Frances M

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PTPN11 Mutations in Noonan Syndrome: Molecular Spectrum, Genotype-Phenotype Correlation, and Phenotypic Heterogeneity von Tartaglia, Marco, Kalidas, Kamini, Shaw, Adam, Song, Xiaoling, Musat, Dan L., van der Burgt, Ineke, Brunner, Han G., Bertola, Débora R., Crosby, Andrew, Ion, Andra, Kucherlapati, Raju S., Jeffery, Steve, Patton, Michael A., Gelb, Bruce D.

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An analysis of appropriate delivery of postoperative radiation therapy for endometrial cancer using the RAND/UCLA Appropriateness Method: Executive summary von Jones, Ellen, MD, PhD, Beriwal, Sushil, MD, Beyer, David, MD, Chino, Junzo, MD, Jhingran, Anuja, MD, Lee, Larissa, MD, Michalski, Jeff, MD, MBA, Mundt, Arno J., MD, Patton, Caroline, MA, Petersen, Ivy, MD, Portelance, Lorraine, MD, Schwarz, Julie K., MD, PhD, McCloskey, Susan, MD, MSHS

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Maspardin Is Mutated in Mast Syndrome, a Complicated Form of Hereditary Spastic Paraplegia Associated with Dementia von Simpson, Michael A., Cross, Harold, Proukakis, Christos, Pryde, Anna, Hershberger, Ruth, Chatonnet, Arnaud, Patton, Michael A., Crosby, Andrew H.

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Homozygous Mutation of Desmocollin-2 in Arrhythmogenic Right Ventricular Cardiomyopathy with Mild Palmoplantar Keratoderma and Woolly Hair von Simpson, M.A., Mansour, S., Ahnood, D., Kalidas, K., Patton, M.A., McKenna, W.J., Behr, E.R., Crosby, A.H.

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Robinow syndrome von Patton, M A, Afzal, A R

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SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia von Crosby, Andrew H, Patel, Heema, Cross, Harold, Proukakis, Christos, Hershberger, Ruth, Bork, Peer, Ciccarelli, Francesca D, Patton, Michael A, McKusick, Victor A

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The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia von Arnason, Alfred, Marçano, Ana Carolina B, Braybrook, Claire, Goodfellow, Paul J, Doudney, Kit, Moore, Gudrun E, Patton, Michael A, Stanier, Philip, Bjornsson, Arni

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A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23 von DICK, K. J, AL-MJENI, Hons R, BASKIR, W, KOUL, R, SIMPSON, M. A, PATTON, M. A, RAEBURN, S, CROSBY, A. H

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Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2 von Jeffery, Steve, Afzal, Ali R, Rajab, Anna, Fenske, Christiane D, Oldridge, Michael, Elanko, Navaratnam, Ternes-Pereira, Eliana, Tüysüz, Beyhan, Murday, Victoria A, Patton, Michael A, Wilkie, Andrew O.M

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3D analysis of facial morphology von Hammond, Peter, Hutton, Tim J., Allanson, Judith E., Campbell, Linda E., Hennekam, Raoul C.M., Holden, Sean, Patton, Michael A., Shaw, Adam, Temple, I. Karen, Trotter, Matthew, Murphy, Kieran C., Winter, Robin M.

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TBX22 mutations are a frequent cause of cleft palate von Marçano, A C B, Doudney, K, Braybrook, C, Squires, R, Patton, M A, Lees, M M, Richieri-Costa, A, Lidral, A C, Murray, J C, Moore, G E, Stanier, P

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The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia von Ciccarelli, Francesca D, Proukakis, Christos, Patel, Heema, Cross, Harold, Azam, Shakil, Patton, Michael A, Bork, Peer, Crosby, Andrew H

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Psychological profile of children with Noonan syndrome von Lee, DA, Portnoy, S, Hill, P, Gillberg, C, Patton, MA

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Paternal Germline Origin and Sex-Ratio Distortion in Transmission of PTPN11 Mutations in Noonan Syndrome von Tartaglia, Marco, Cordeddu, Viviana, Chang, Hong, Shaw, Adam, Kalidas, Kamini, Crosby, Andrew, Patton, Michael A., Sorcini, Mariella, van der Burgt, Ineke, Jeffery, Steve, Gelb, Bruce D.

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Common arterial trunk associated with a homeodomain mutation of NKX2.6 von Heathcote, Kirsten, Braybrook, Claire, Abushaban, Lulu, Guy, Michelle, Khetyar, Maher E., Patton, Michael A., Carter, Nicholas D., Scambler, Peter J., Syrris, Petros

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