Sanford P. Bishop, Peter G. Anderson, Daniel Tucker,
... at intervals from 1 to 14 weeks in oculo. For comparison with myocardium developing in oculo, 12-day fetal tissue and 3-, 8-, and ... rats were also studied. At 1 week in oculo, myofibrils were laterally located and more frequent than ... but no M bands. At 10 days in oculo (comparable to birth in normally growing animals), myocyte ... many labeled myocyte nuclei. By 5 weeks in oculo, cells were filled with mature myofibrils with clear ... small cell size, ultrastructure of myocytes developing in oculo for 5 or more weeks appeared very similar ...
Tópico(s): Mitochondrial Function and Pathology
1990 - Lippincott Williams & Wilkins | Circulation Research
Angela Paterson, Jon Ashworth, David Tytler, Elizabeth Anson (Vice-Chairman), Mel Calman, Nicholas Wood, Political Correspondent, Christopher Warman, Property Correspondent, Zahid Hussain, John Goodbody and John O'leary, Gail Goedkoop (Director), Jasper Rees, Ronald Faux, Sheridan Morley, Qamar Ahmed, Ross Tieman, Industrial Correspondent, Michael Stevenson, Richard Long, Philip Howard, Michael Seely, Racing Correspondent, Nick Worrall, Michael Binyon, Clive Davis, Harry Eyres, Neil Bennett, Banking Correspondent, Roddy Forsyth, Colin Narbrough, Gerald Davies, Ray Clancy, Michael Seely Racing Correspondent, Bernard Levin, Martin Fletcher, Michael Dynes Transport Correspondent, Mitchell Platts, Bryan Stiles, Wolfgang Münchau European Business Correspondent, Stuart Jones, Peter Ball, Debra Craine, Louise Taylor, Brian Corby, Martin Barrow, David Phillips, Peter Bills, Martin Waller and Jonathan Prynn, David EVANS(Director), Ernest Beck, Michael McCarthy, Environment Correspondent, John O'Leary, Anatole Kaletsky, David Hands, Andrew Richmond (Chief Executive), S. Sternberg, Michael Seely's, John Percival, John O'leary, Raymond Harris, John Hennessy, Wolfgang Munchau European Business Correspondent, Ken Gill General Secretary, Alan R. Tyrrell, Penny Vincenzi, J. C. Philpott, Director, Edward Gorman, Irish Affairs Correspondent, Roos Tieman, Industrial Correspondent, Sydney Friskin, Dennis Signy, Humphrey Taylor, Chris Thau, David Miller, Mitchell Platts Golf Correspondent, Nicolas Soames, John Higgins, Andrew McEwen, Diplomatic Editor, Robin Oakley, Political Editor, John O'leary Higher Education Correspondent, Kerry Gill, Jonathan Prynn, Peter Davalle, Raymond Keene, Chess Correspondent, Nicholas Beeston and our Foreign Staff, Rosemary Smith, Alix Ramsay, David Powell, Athletics Correspondent, Peter Dear and Gillian Maxey, Bill Griffiths (Chairman), N. R. MacNICOL, Peter Guilford, Ian Ross, Paul Adams, Ronald Butt, Richard Bassett, Graham Hills, Keith MacKlin, David Hands Rugby Correspondent, Nicholas Wood, Christopher Thomas, David Young, Graham JUKES(Under-Secretary), George Hill, H. Hargreaves, Craig Lord, Clive White, Matthew Parris, Malcolm McKeag, Frank Allaun, Chapman Pincher, Michael Austin, Richard Burnell, Keith Blackmore, Walter Gammie, John Greenlees, David Sinclair, Philip Pangalos, Stephen Lewis Fifth Horseman Publications, Britain Nick Nuttall, Benedict Nightingale, Hugh Thompson, Keith Macklin, Matthew Bond, Peter Robinson, Andrew Longmore, Tennis Correspondent, Mary Dejevsky,
... School Management The Church Schools Company Rossall Levavi Oculos Multiple Display Advertising Items The Sunday Times Independent ...
1990 - Gale Group | TDA
Enza Maria Valente, D. C. Salpietro, Francesco Brancati, Enrico Bertini, Tiziana Galluccio, Gaetano Tortorella, Silvana Briuglia, Bruno Dallapiccola,
Cerebello-oculo-renal syndromes (CORSs) and Joubert syndrome (JS) are clinically and genetically heterogeneous autosomal recessive syndromes that share ... unifying feature of these clinically heterogeneous syndromes. Cerebello-oculo-renal syndromes (CORSs) and Joubert syndrome (JS) are ... unifying feature of these clinically heterogeneous syndromes. Cerebello-oculo-renal syndromes (CORSs) are a group of autosomal ... al., 1999Satran D Pierpoint MEM Dobyns WB Cerebello-oculo-renal syndromes including Arima, Senior-Löken and COACH ...
Tópico(s): Genetic and Kidney Cyst Diseases
2003 - Elsevier BV | The American Journal of Human Genetics
Sarah Edworthy, Andrew Billen, Peter Cotes, Jane MacQuitty, Simon Barnes, Boris Johnson, Crawford and Balcarres, David Lee, David Strabolgi, Cliff Feltham, Steven Dunne, Michael Seely, Racing Correspondent, Hilary Finch, Hilary Gaskin, Jeremy Kingston, Clive Davis, Jeremy Flint, Richard Streeton, Colin Narbrough, Ronald Faux and Michael Horsnell, Bernard Levin, Vivien Goldsmith, Francesca Greenoak, Henry Gee, Jim Railton, Peter Dawson, Mitchell Platts, Mitchell Platts, Golf Correspondent, Anthony Grant, Louise Taylor, Huon Mallalieu, Lawrence Lever, Rodney Cowton, Transport Correspondent, Liz Forgan, J. A. Reynolds, Libby Purves, Charles Jackson, Robin Young, David Smith Economics Correspondent, Michael Clark, Chris Drake, and Robert Fisk, Frances Bissell, David Hands, James Wood, Charles Bremner, Simon Banner, Stuart Jones, Football Correspondent, Richard Thomson, Banking Correspondent, John Hennessy, Norman de Mesquita, Jenny Tabakoff, John Cooney and Sheila Gunn, Jack Waterman, Harvey Elliott, Air Correspondent, Edward Fennell, George Rae, Stephen Johnson, Sydney Friskin, Nicholas Harling, David Smith, Economics Correspondent, Dennis Signy, David Miller, Nigel Andrew, (Michael Phillips), Richard Owen and Michael Dynes, David Watts, Albert Friedlander, Michael Watkins, Robin Oakley, Political Editor, Sheila Gunn and Robert Matthews, Raymond Keene, Tony Gurr, Jack Lunzer, William Holmes, Alison Eadie, Anthony Hodges, Raymond Keene, Chess Correspondent, Peter Dear and Jane Rackham, Ken Gosling, Paul Griffiths, Peter Bryan, Alexandra Jackson, Michael Seely and Andrew Longmore, Sheila Gunn, Political Staff, Iain Liddell, Richard Evans Media Editor, Barry Pickthall, Irving Wardle, Tim Jones and Andrew Morgan, Bryan Appleyard, Brian Beel, Derek Harris, Industrial Editor, Keith MacKlin, David Hands Rugby Correspondent, Kenneth Fleet, Christopher Thomas, Peter Hardy, Pat Butcher, Athletics Correspondent, Christopher Walker, John Hannam, Clive White, Paul Newman, Michael Hornsby, Michael Seely, Tony Dawe, Suzanne Budgen, Michael Dynes, Mike Murphy, David Sinclair, William Cash, Alan McGregor, Jonathan Meades, Robert Fisk, Roland Rudd and David Cazalet, Maria Scott, Pearce Wright, Science Editor, Michael Kinsley, Judy Froshaug, Garry Burton, K. G., Philip Jacobson, David Hands, Rugby Correspondent, Michael Coleman, Colin McQuillan, Margaret Stansgate, Philip Ray, Richard Williams,
... Hellenic Jamaica Best Beaches Education in Switzerland Levavi Oculos Multiple Display Advertising Items Ecole Lémania Lausance Genéve ...
1988 - Gale Group | TDA
Matthias T. F. Wolf, Sophie Saunier, John F. O’Toole, Nicola Wanner, Ted Groshong, Massimo Attanasio, Rémi Salomon, Thomas Stallmach, John A. Sayer, R. Waldherr, Martin Griebel, Jangsuk Oh, T. Neuhaus, U. Josefiak, Corinne Antignac, Edgar A. Otto, Friedhelm Hildebrandt,
... JS is called JS type B or cerebello-oculo-renal syndrome patients.6.Saraiva J.M. Baraitser ... al.CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome related disorders.Am ... novel ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel ... novel ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel ... novel ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel ...
Tópico(s): Tissue Engineering and Regenerative Medicine
2007 - Elsevier BV | Kidney International
S. David Ferguson, I D Young, Robert Teoh,
... of a boy with congenital myopathy associated with oculo‐facial and skeletal abnormalities. The relationship of this ... syndromes is discussed. RÉSUMÉ Myopathie congénitale avec anomalies oculo‐faciales et squelettiques Les auteurs rapportent le cas ... présentant une myopathic congenitale associée à des anomalies oculo‐faciales et squelettiques. La relation de ce cas ... Marden‐Walker est discutée. ZUSAMMENFASSUNG Congenitale Myopathie mil oculo‐facialen unci Skelett‐Miβbildungen Es wird der Fallbericht eines Jungen mit congenitaler Myopathie und oculo‐facialen sowie Skelett‐Mißbildungen wiedergegeben. Die Beziehung dieses ...
Tópico(s): Genetic and Kidney Cyst Diseases
1981 - Wiley | Developmental Medicine & Child Neurology
René Kaiser, Elena Guillén Posteguillo, Dietmar Müller, Walter Just,
... DACH-SIX-PAX pathway as candidates for Branchio–Oculo–Facial syndrome (BOFS)† René Kaiser, René Kaiser Institute ... DACH-SIX-PAX pathway as candidates for Branchio–Oculo–Facial syndrome (BOFS). Am J Med Genet Part ... W, Müller D. 2000. The gene for branchio-oculo-facial syndrome does not colocalize to the EYA1- ... the SALL1 gene as a cause of branchio-oculo-facial syndrome. Am J Med Genet Part A ... Müller D. 1995. Further delineation of the branchio-oculo-facial syndrome. Am J Med Genet 56: 42– ... renal syndrome locus (EYA1) from patients with branchio-oculo-facial syndrome. Am J Med Genet 91: 387– ...
Tópico(s): Ophthalmology and Eye Disorders
2007 - Wiley | American Journal of Medical Genetics Part A
Christiane Tasse, Frank Majewski, Stefan Böhringer, Sven Fischer, Hermann‐Josef Lüdecke, Gabriele Gillessen‐Kaesbach, Dagmar Wieczorek,
Oculo-auriculo-vertebral spectrum (MIM 164210) is a term suggested by Gorlin to summarize the different phenotypic ... skeletal and other anomalies occur. The majority of oculo-auriculo-vertebral spectrum cases are sporadic; nevertheless, several ... inheritance. We describe a family with transmission of oculo-auriculo-vertebral spectrum from a mother to her ... reveals that patients with autosomal dominant inheritance of oculo-auriculo-vertebral spectrum are more often bilaterally affected than patients with sporadic occurrence of oculo-auriculo-vertebral spectrum. In addition, hearing loss, absent ...
Tópico(s): Hedgehog Signaling Pathway Studies
2006 - Lippincott Williams & Wilkins | Clinical Dysmorphology
Produção Nacional
Revisado por pares
Dagmar Wieczorek, William G. Newman, Thomas Wieland, Tea Berulava, Maria Kaffe, D. Falkenstein, Christian Beetz, Elisabeth Graf, Thomas Schwarzmayr, Sofia Douzgou, Jill Clayton‐Smith, Sarah B. Daly, Simon G. Williams, Sanjeev S. Bhaskar, Jill Urquhart, Beverley Anderson, James O’Sullivan, Odile Boute, Jasmin Gundlach, Johanna Christina Czeschik, Anthonie J. van Essen, Fılız Hazan, Sarah Park, Anne Hing, Alma Kuechler, Dietmar Lohmann, Kerstin U. Ludwig, Elisabeth Mangold, Laura Steenpaß, Michael Zeschnigk, Johannes R. Lemke, Charles Marques Lourenço, Ute Hehr, Eva-Christina Prott, Mélanie Waldenberger, Anne C. Böhmer, Bernhard Horsthemke, Raymond T. O’Keefe, Thomas Meitinger, John Burn, H.-J. Lüdecke, Tim M. Strom,
... a single highly consanguineous family, formerly diagnosed as oculo-oto-facial dysplasia, the four affected individuals were ... a single highly consanguineous family, formerly diagnosed as oculo-oto-facial dysplasia, the four affected individuals were ... 14) Google Scholar It has been suggested that oculo-oto-facial dysplasia (OOFD [MIM 610332]), reported in ... R. Monks S. Parisi M.A. A novel oculo-oto-facial dysplasia in a Native Alaskan community ... 2) Google Scholar, 6Wieczorek D. Gillessen-Kaesbach G. Oculo-oto-facial dysplasia (OOFD) versus Burn-McKeown syndrome. ...
Tópico(s): Glycosylation and Glycoproteins Research
2014 - Elsevier BV | The American Journal of Human Genetics
Carol L. Shields, Swathi Kaliki, Michael G. Livesey, Brianna Walker, Robert B. Garoon, Marissa Bucci, Eric Feinstein, Aline Pesch, Cristina González, Sara E. Lally, Arman Mashayekhi, Jerry A. Shields,
Ocular/oculodermal (oculo[dermal]) melanocytosis is a congenital periocular pigmentary condition that can lead to the development of uveal melanoma, estimated ... those without melanocytosis.To determine the relationship of oculo(dermal) melanocytosis to the prognosis of patients with ... and death.Of 7872 patients with uveal melanoma, oculo(dermal) melanocytosis was present in 230 (3%). The ... and temporal fossa (1%). Eyes with melanoma and oculo(dermal) melanocytosis had a relative risk for metastasis ... By Kaplan-Meier estimates, metastasis in patients with oculo(dermal) melanocytosis vs no melanocytosis was 2% vs ...
Tópico(s): Retinal Development and Disorders
2013 - American Medical Association | JAMA Ophthalmology
Elias I. Traboulsi, Marshall M. Parks,
Two patients with oculo-dento-osseous dysplasia developed glaucoma in infancy or early childhood. Aggressive surgical management resulted in the preservation of vision ... review of published reports disclosed that glaucoma in oculo-dento-osseous dysplasia develops at different ages and ... life and intellect. Early screening for glaucoma in oculo-dento-osseous dysplasia is mandatory, especially when there ... that suggest high intraocular pressure. Two patients with oculo-dento-osseous dysplasia developed glaucoma in infancy or ...
Tópico(s): Biomedical Research and Pathophysiology
1990 - Elsevier BV | American Journal of Ophthalmology
... of extraocular muscle surgery on 15 patients with oculo-cutaneous albinism (OCA) and infantile nystagmus syndrome (INS). ... of extraocular muscle surgery on 15 patients with oculo-cutaneous albinism (OCA) and infantile nystagmus syndrome (INS). ... of extraocular muscle surgery on 15 patients with oculo-cutaneous albinism (OCA) and infantile nystagmus syndrome (INS). ... of extraocular muscle surgery on 15 patients with oculo-cutaneous albinism (OCA) and infantile nystagmus syndrome (INS). ... of extraocular muscle surgery on 15 patients with oculo-cutaneous albinism (OCA) and infantile nystagmus syndrome (INS). ...
Tópico(s): Tactile and Sensory Interactions
2009 - Elsevier BV | Ophthalmology
... locate the origin of those fed back efferent oculo-motor signals which modify visual perception, the effects ... of saccadic suppression and the organization of the oculo-motor system, are taken to suggest that the midbrain oculo-motor integrating center is the source of the ... Pour tenter de localiser l'origine des signaux oculo-moteurs efférents réverbérants qui modifient la perception visuelle, ... par mouvements saccadés et l'organisation du système oculo-moteur, sont utilisés pour émettre l'hypothèse que ...
Tópico(s): Vestibular and auditory disorders
1966 - Elsevier BV | Electroencephalography and Clinical Neurophysiology
... is termed Joubert syndrome type B, or cerebello-oculo-renal syndrome (CORS). A number of other clinical ... The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel ... The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel ... The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel ... The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel ...
Tópico(s): Congenital Anomalies and Fetal Surgery
2007 - Elsevier BV | Kidney International
Pen‐Hua Su, Ju‐Shan Yu, Jia‐Yuh Chen, Suh-Jen Chen, Shuan‐Yow Li, Hsiao-Neng Chen,
Oculo-auriculo-vertebral spectrum, the exact genetic predisposition of which has not yet been resolved, is characterized ... we analyzed four cases exhibiting multiple features of oculo-auriculo-vertebral spectrum and one case with Treacher- ... reliably identifies craniofacial malformations. We detected one typical oculo-auriculo-vertebral spectrum patient who had a missense ... mutations in exons 10 and 23, three partial oculo-auriculo-vertebral spectrum patients who had no detectable ... in these five patients might be related to oculo-auriculo-vertebral spectrum symptoms.
Tópico(s): Facial Trauma and Fracture Management
2007 - Lippincott Williams & Wilkins | Clinical Dysmorphology