SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

Autor: Margaret F. Lippincott, Diane Lucente, Catarina M. Seabra, Shelagh Joss, Hemant Bengani, Angela Lek, Klaus W. Ruprecht, Jenny Jing, Nicholas Katsanis, Joe Rainger, Tammy Kammin, Cynthia C. Morton, Ravikumar Balasubramanian, Chie Hee Cho, Peter L. Jones, Alexandra Silva, Ianina Scheer, Jennifer R. Law, Nobuhiko Okamoto, Stephanie B. Seminara, William F. Crowley, Joseph A. Marsh, Jeanie B. Tryggestad, Markus Zweier, Benjamin Currall, Veronica van Heyningen, Serkan Erdin, Natalie D. Shaw, Michael E. Talkowski, John Graham, Daniel G. MacArthur, Kathleen A. Williamson, Morad Ansari, Angela M. Kaindl, Nirav J. Patel, Jacqueline K. Rainger, Zachary A. Kupchinsky, Koh-ichiro Yoshiura, Kaitlin E. Samocha, Angela E. Lin, Daisuke Sato, Bart Loeys, Malik Nassan, Sylvia S. Singh, Takako I. Jones, Eric C. Liao, Donncha S. Dunican, Claudia Cesaretti, Lisa A. Schimmenti, Janet E. Hall, Christina Jacobsen, Ryan L. Collins, Jill Clayton Smith, Alexei Stortchevoi, Erica E. Davis, Tatiana Pineda Buitrago, Shahrin Pereira, Masato Shino, Steven A. Moore, Wolfgang Mühlbauer, Anita Rauch, James F. Gusella, Colby Chiang, Nalton F. Ferraro, José Elías García-Ortiz, David R. FitzPatrick, Alain Verloes, Katharina Steindl, Jodi D. Hoffman, Yu An, Lacey Plummer, Benjamin Brasseur, Monkol Lek, Richard R. Meehan, Orlando Perez Silva, Harrison Brand, Steven D. Chernausek, Jason R. Willer

Publikováno v: Nature Genetics, 49, 2, pp. 238-248
Nature genetics
Shaw, N D, Brand, H, Kupchinsky, Z A, Bengani, H, Plummer, L, Jones, T I, Erdin, S, Williamson, K A, Rainger, J, Stortchevoi, A, Samocha, K, Currall, B B, Dunican, D S, Collins, R L, Willer, J R, Lek, A, Lek, M, Nassan, M, Pereira, S, Kammin, T, Lucente, D, Silva, A, Seabra, C M, Chiang, C, An, Y, Ansari, M, Rainger, J K, Joss, S, Smith, J C, Lippincott, M F, Singh, S S, Patel, N, Jing, J W, Law, J R, Ferraro, N, Verloes, A, Rauch, A, Steindl, K, Zweier, M, Scheer, I, Sato, D, Okamoto, N, Jacobsen, C, Tryggestad, J, Chernausek, S, Schimmenti, L A, Brasseur, B, Cesaretti, C, García-Ortiz, J E, Buitrago, T P, Silva, O P, Hoffman, J D, Mühlbauer, W, Ruprecht, K W, Loeys, B L, Shino, M, Kaindl, A M, Cho, C-H, Morton, C C, Meehan, R R, van Heyningen, V, Liao, E C, Balasubramanian, R, Hall, J E, Seminara, S B, Macarthur, D, Moore, S A, Yoshiura, K, Gusella, J F, Marsh, J A, Graham Jr, J M, Lin, A E, Katsanis, N, Jones, P L, Crowley Jr, W F, Davis, E E, FitzPatrick, D R & Talkowski, M E 2017, ' SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome ', Nature Genetics, vol. 49, no. 2, pp. 238-248 . https://doi.org/10.1038/ng.3743
Nature Genetics, 49, 238-248
Shaw, N D, Brand, H, Kupchinsky, Z A, Bengani, H, Plummer, L, Jones, T I, Erdin, S, Williamson, K A, Rainger, J, Stortchevoi, A, Samocha, K, Currall, B B, Dunican, D S, Collins, R L, Willer, J R, Lek, A, Lek, M, Nassan, M, Pereira, S, Kammin, T, Lucente, D, Silva, A, Seabra, C M, Chiang, C, An, Y, Ansari, M, Rainger, J K, Joss, S, Smith, J C, Lippincott, M F, Singh, S S, Patel, N, Jing, J W, Law, J R, Ferraro, N, Verloes, A, Rauch, A, Steindl, K, Zweier, M, Scheer, I, Sato, D, Okamoto, N, Jacobsen, C, Tryggestad, J, Chernausek, S, Schimmenti, L A, Brasseur, B, Cesaretti, C, García-Ortiz, J E, Buitrago, T P, Silva, O P, Hoffman, J D, Mühlbauer, W, Ruprecht, K W, Loeys, B L, Shino, M, Kaindl, A M, Cho, C-H, Morton, C C, Meehan, R R, van Heyningen, V, Liao, E C, Balasubramanian, R, Hall, J E, Seminara, S B, Macarthur, D, Moore, S A, Yoshiura, K-I, Gusella, J F, Marsh, J A, Graham, J M, Lin, A E, Katsanis, N, Jones, P L, Crowley, W F, Davis, E E, FitzPatrick, D R & Talkowski, M E 2017, ' SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome ', Nature Genetics, vol. 49, no. 2, pp. 238-248 . https://doi.org/10.1038/ng.3743

Arhinia, or absence of the nose, is a rare malformation of unknown etiology that is often accompanied by ocular and reproductive defects. Sequencing of 40 people with arhinia revealed that 84% of probands harbor a missense mutation localized to a con

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d68d8df63ca8f32d22441b77159f6e8f
https://hdl.handle.net/2066/175555

Prevalence of ocular manifestations in hereditary hemorrhagic telangiectasia

Autor: Urban W. Geisthoff, K. Hille, Klaus W. Ruprecht, Thomas Verse, Peter K. Plinkert

Publikováno v: Graefe's Archive for Clinical and Experimental Ophthalmology. 245:1141-1144

Hereditary hemorrhagic telangiectasia (HHT) is a systemic disorder of the fibrovascular tissue. Few data have been published on the frequency of ophthalmologic manifestations. The aim of this study was to assess this frequency. A prospective observat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58953b907bd25fca88dc12cbf9cd3ab1
https://doi.org/10.1007/s00417-006-0520-2

Medium term results in keratoprostheses with biocompatible and biological haptic

Autor: A. Hille, Klaus W. Ruprecht, K. Hille

Publikováno v: Graefe's Archive for Clinical and Experimental Ophthalmology. 244:696-704

Corneal grafts or limbal stem cell transplantation are often unsuccessful in patients with severe ocular surface disorders such as severe dry eye syndrome, symblepharon or diffuse vascularisation. In those patients, a keratoprosthesis (KPro) may be a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17d408683db38941b4af402d761a0a91
https://doi.org/10.1007/s00417-005-0092-6

Homocysteine in Ocular Arterial and Venous Occlusive Disease

Autor: Elke Denninger, Klaus W. Ruprecht, Gerhard Pindur, Anja M. Palmowski-Wolfe, Jürgen Geisel

Publikováno v: Neuro-Ophthalmology. 29:179-185

Objectives: To evaluate homocysteine and methylentetrahydrofolat reductase (MTHFR 677 C → T) mutations as risk factors in ocular arterial and venous occlusive disease. Materials and methods: Over a period of 3.5 years (1/1999–8/2002) 410 patients

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::352855a558032914c50b37b08e75ca0d
https://doi.org/10.1080/01658100500481149

Influence of cataract on the multifocal ERG recording – a pre- and postoperative comparison

Autor: Bernhild Heinemann-Vernaleken, Anja M. Palmowski, Ursula V. Wördehoff, Klaus W. Ruprecht, Reiner Allgayer

Publikováno v: Documenta Ophthalmologica. 108:67-76

To study the influence of cataract on the multifocal electroretinogram (mfERG), 18 patients underwent mfERG recordings prior to and following cataract surgery. The central 50 degrees of the retina were stimulated by 103 hexagons alternating independe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09793c118dc0b19d5cdb4531dee8f0c3
https://doi.org/10.1023/b:doop.0000018394.84831.40