Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice.

Autor: Joe Rainger, Ellen van Beusekom, Jacqueline K Ramsay, Lisa McKie, Lihadh Al-Gazali, Rosanna Pallotta, Anita Saponari, Peter Branney, Malcolm Fisher, Harris Morrison, Louise Bicknell, Philippe Gautier, Paul Perry, Kishan Sokhi, David Sexton, Tanya M Bardakjian, Adele S Schneider, Nursel Elcioglu, Ferda Ozkinay, Rainer Koenig, Andre Mégarbané, C Nur Semerci, Ayesha Khan, Saemah Zafar, Raoul Hennekam, Sérgio B Sousa, Lina Ramos, Livia Garavelli, Andrea Superti Furga, Anita Wischmeijer, Ian J Jackson, Gabriele Gillessen-Kaesbach, Han G Brunner, Dagmar Wieczorek, Hans van Bokhoven, David R FitzPatrick

Publikováno v: PLoS Genetics, Vol 14, Iss 12, p e1007866 (2018)

[This corrects the article DOI: 10.1371/journal.pgen.1002114.].

Externí odkaz: https://doaj.org/article/5eacb5aa2aef4ceabdeb674476983ece

An animal model for Pierpont syndrome: a mouse bearing the Tbl1xr1 Y446C/Y446C mutation

Autor: Yalan Hu, Peter Lauffer, Michelle Stewart, Gemma Codner, Steffen Mayerl, Heike Heuer, Lily Ng, Douglas Forrest, Paul van Trotsenburg, Aldo Jongejan, Eric Fliers, Raoul Hennekam, Anita Boelen

Publikováno v: Human molecular genetics, 31(17), 2951-2963. Oxford University Press
Human Molecular Genetics, 31(17), 2951-2963. Oxford University Press
Hu, Y, Lauffer, P, Stewart, M, Codner, G, Mayerl, S, Heuer, H, Ng, L, Forrest, D, van Trotsenburg, P, Jongejan, A, Fliers, E, Hennekam, R & Boelen, A 2022, ' An animal model for Pierpont syndrome : a mouse bearing the Tbl1xr1Y446C/Y446C mutation ', Human Molecular Genetics, vol. 31, no. 17, pp. 2951-2963 . https://doi.org/10.1093/hmg/ddac086

Pierpont syndrome is a rare disorder characterized mainly by global developmental delay, unusual facial features, altered fat distribution in the limbs and hearing loss. A specific mutation (p.Tyr446Cys) in TBL1XR1, encoding a WD40 repeat-containing

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2660ed8da8c082427322a8cd043770a
https://doi.org/10.1093/hmg/ddac086

Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events

Autor: Christine M, Armour, Amanda, Smith, Taila, Hartley, Jodi Warman, Chardon, Sarah, Sawyer, Jeremy, Schwartzentruber, Raoul, Hennekam, Jacek, Majewski, Dennis E, Bulman, Mohnish, Suri, Kym M, Boycott

Publikováno v: American journal of medical genetics. Part A. 170(7)

In 1987 Fitzsimmons and Guilbert described identical male twins with progressive spastic paraplegia, brachydactyly with cone shaped epiphyses, short stature, dysarthria, and "low-normal" intelligence. In subsequent years, four other patients, includi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::6d1330d842907f4443ff5c45adb1606c
https://pubmed.ncbi.nlm.nih.gov/27133561

[Introduction of next-generation sequencing in health care: what are the implications for physicians and patients?]

Autor: Corrette, Ploem, Wybo, Dondorp, Guido, de Wert, Raoul, Hennekam

Publikováno v: Nederlands tijdschrift voor geneeskunde. 158(4)

Next-generation sequencing (NGS) involves the laying down of the sequence of the entire genome or exome at one time. This technique is expected to become one of the approaches in diagnostic testing. The genetically determined vulnerability of individ

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::52272e73be4b7aafc6ceef6d4c6de616
https://pubmed.ncbi.nlm.nih.gov/24447675

AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders

Autor: Valente, Em, Brancati, F, Silhavy, Jl, Castori, M, Marsh, Se, Barrano, G, Bertini, E, Boltshauser, E, Zaki, Ms, Abdel Aleem, A, Abdel Salam GM, Bellacchio, E, Battini, R, Cruse, Rp, Dobyns, Wb, Krishnamoorthy, Ks, Lagier Tourenne, C, Magee, A, Pascual Castroviejo, I, SALPIETRO DAMIANO, Carmelo, Sarco, D, Richard, Leventer, Padraic Grattan Smith, Andreas, Janecke, Marc, D’Hooghe, Rudy Van Coster, Karin, Dias, Carla, Moco, Ana, Moreira, Chong Ae Kim, Gustavo, Maegawa, Itxaso, Marti, Susana Quijano Roy, Alain, Verloes, Renaud, Touraine, Miche, Bernard, Stuart, Dorit, Lev, Bruria Ben Zeev, Rita, Fischetto, Mattia, Gentile, Lucio, Giordano, Loredana, Boccone, Martino, Ruggieri, Stefania, Bigoni, Maria Alide Donati, Elena, Procopio, Gianluca, Caridi, Francesca, Faravelli, Gianmarco, Ghiggeri, Briuglia, Silvana, Gaetano, Tortorella, Stefano, D’Arrigo, Chiara, Pantaleoni, Daria, Riva, Graziella, Uziel, Stefania, Bova, Elisa, Fazzi, Sabrina, Signorini, Maria Roberta Cilio, Marilu` Di Sabato, Francesco, Emma, Vincenzo, Leuzzi, Pasquale, Parisi, Alessandro, Simonati, de Jong, Mirjam M., Matloob, Azam, Berta, Rodriguez, Hulya, Kayserili, Lihadh Al Gazali, Laszlo, Sztriha, David, Nicholl, Geoffrey Woods, C., Raoul, Hennekam, Saunder, Bernes, Henry, Sanchez, Clark, Aldon E., Elysa, Demarco, Clement, Donahue, Elliot, Sherr, Jin, Hahn, Terence, D, Sanger, Gallager H, Tomas E., Cynthia, Daugherty, Walsh, Christopher A., Trudy, Mckanna, Joanne, Milisa, Chung, Wendy K., De Vivo, Darryl C., Hillary, Raynes, Romaine, Schubert, Alison, Seward, Brooks, David G., Amy, Goldstein, James, Caldwell, Eco, Finsecke, Kenton, Holden, Swobod, Kathryn J., Dave Viskochil, Dallapiccola, B, Gleeson, Jg

Publikováno v: Valente, E M; Brancat, F; Silhavy, J L; Castori, M; March, S E; Barrano, G; et al.(2006). AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. Annals of Neurology, 59(3), 527-534. UC San Diego: Retrieved from: http://www.escholarship.org/uc/item/4jp5t97n

Author(s): Valente, E M; Brancat, F; Silhavy, J L; Castori, M; March, S E; Barrano, G; Bertini, E; Boltshauser, E; Zaki, M S; Abdel-Aleem, A; Abdel-Salam, GMH; Bellacchlo, E; Battini, R; Cruse, R P; Dobyns, W B; Krishnamoorthy, K S; Lagier-Tourenne,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3243eb573c5d84d0efe6229042b9a7cb
https://pubmed.ncbi.nlm.nih.gov/16453322