Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes von Shaaban, S., Duzcan, F., Yildirim, C., Chan, W.-M., Andrews, C., Akarsu, N.A., Engle, E.C.

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Clinical characterization of the HOXA1 syndrome BSAS variant von BOSLEY, T. M, SALIH, M. A, ALORAINY, I. A, OYSTRECK, D. T, NESTER, M, ABU-AMERO, K. K, TISCHFIELD, M. A, ENGLE, E. C

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Diffusion tensor MRI shows abnormal brainstem crossing fibers associated with ROBO3 mutations von SICOTTE, N. L, SALAMON, G, BALOH, R. W, DELLER, T, JEN, J. C, SHATTUCK, D. W, HAGEMAN, N, RÜB, U, SALAMON, N, DRAIN, A. E, DEMER, J. L, ENGLE, E. C, ALGER, J. R

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Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3 von Chan, W-M, Traboulsi, E I, Arthur, B, Friedman, N, Andrews, C, Engle, E C

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Congenital Fibrosis of the Extraocular Muscles Type 2, an Inherited Exotropic Strabismus Fixus, Maps to Distal 11q13 von Wang, S.M., Zwaan, J., Mullaney, P.B., Jabak, M.H., Al-Awad, A., Beggs, A.H., Engle, E.C.

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CFEOM3: A New Extraocular Congenital Fibrosis Syndrome that Maps to 16q24.2-q24.3 von Doherty, Edward J, Macy, Margaret E, Wang, Susan M, Dykeman, Catherine P, Melanson, Maureen T, Engle, Elizabeth C

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Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles von Engle, Elizabeth C., Goumnerov, Boyan C., McKeown, Craig A., Schatz, Martha, Johns, Donald R., Porter, John D., Beggs, Alan H.

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110th ENMC International Workshop: The congenital cranial dysinnervation disorders (CCDDs): Naarden, The Netherlands, 25–27 October, 2002 von Gutowski, N.J, Bosley, T.M, Engle, E.C

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Human genetic disorders of axon guidance von Engle, Elizabeth C

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A gene for isolated congenital ptosis maps to a 3-cM region within 1p32-p34.1 von ENGLE, E. C, CASTRO, A. E, MACY, M. E, KNOLL, J. H. M, BEGGS, A. H

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A Japanese family with FEOM1-linked congenital fibrosis of the extraocular muscles type 1 associated with spinal canal stenosis and refinement of the FEOM1 critical region von Uyama, E., Yamada, K., Kawano, H., Chan, W.-M., Andrews, C., Yoshioka, M., Uchino, M., Engle, E.C.

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Congenital fibrosis of the extraocular muscles (autosomal dominant congenital external ophthalmoplegia) : genetic homogeneity, linkage refinement, and physical mapping on chromosom... von ENGLE, E. C, MARONDEL, I, HOUTMAN, W. A, DE VRIES, B, LOEWENSTEIN, A, LAZAR, M, WARD, D. C, RAJU KUCHERLAPATI, BEGGS, A. H

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Homozygous mutations in ARIX ( PHOX2A ) result in congenital fibrosis of the extraocular muscles type 2 von Engle, Elizabeth C, Nakano, Motoi, Yamada, Koki, Fain, Jennifer, Sener, Emin C, Selleck, Carol J, Awad, Abdulaziz H, Zwaan, Johan, Mullaney, Paul B, Bosley, Thomas M

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Mutilating hand syndrome in an infant with familial carpal tunnel syndrome von Swoboda, Kathryn J., Engle, Elizabeth C., Scheindlin, Benjamin, Anthony, Douglas C., Jones, H. Royden

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Recent Progress in Understanding Congenital Cranial Dysinnervation Disorders von Oystreck, Darren T, Engle, Elizabeth C, Bosley, Thomas M

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TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy von Whitman, Mary C., Barry, Brenda J., Robson, Caroline D., Facio, Flavia M., Van Ryzin, Carol, Chan, Wai-Man, Lehky, Tanya J., Thurm, Audrey, Zalewski, Christopher, King, Kelly A., Brewer, Carmen, Almpani, Konstantinia, Lee, Janice S., Delaney, Angela, FitzGibbon, Edmond J., Lee, Paul R., Toro, Camilo, Paul, Scott M., Abdul-Rahman, Omar A., Webb, Bryn D., Jabs, Ethylin Wang, Moller, Hans Ulrik, Larsen, Dorte Ancher, Antony, Jayne H., Troedson, Christopher, Ma, Alan, Ragnhild, Glad, Wirgenes, Katrine V., Tham, Emma, Kvarnung, Malin, Maarup, Timothy James, MacKinnon, Sarah, Hunter, David G., Collins, Francis S., Manoli, Irini, Engle, Elizabeth C.

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The genetic basis of complex strabismus von ENGLE, Elizabeth C

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Congenital fibrosis of the extraocular muscles associated with cortical dysplasia and maldevelopment of the basal ganglia von Flaherty, Maree P, Grattan-Smith, Padraic, Steinberg, Adam, Jamieson, Robyn, Engle, Elizabeth C

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Congenital fibrosis syndromes von Shivaram, S M, Engle, E C, Petersen, R A, Robb, R M

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Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development von Engle, Elizabeth C, Tischfield, Max A, Bosley, Thomas M, Salih, Mustafa A M, Alorainy, Ibrahim A, Sener, Emin C, Nester, Michael J, Oystreck, Darren T, Chan, Wai-Man, Andrews, Caroline, Erickson, Robert P

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