Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Kyrieckos A. Aleck"'
Autor:
Sixto Garcia Minaur, Pankaj B. Agrawal, A. Micheil Innes, Catherine A. Brownstein, David S. Wargowski, Brenda McInnes, Isaac Wong, Albert E. Chudley, Jennifer E. Posey, Francesc López-Giráldez, Ping-Yee B Au, Alper Gezdirici, Kyrieckos A. Aleck, Eric Boerwinkle, Paolo Prontera, Bilgen Bilge Geçkinli, Yeting Zhang, An Nguyen, David A. Dyment, Jukka S. Moilanen, Alan H. Beggs, Nara Sobreira, Hatip Aydin, Elizabeth E. Blue, Kathryn Dunn, Gerald F. Cox, Bernard N. Chodirker, Harrison Brand, Jinchuan Xing, Hind Al Sharhan, Bert B.A. de Vries, Maria Juliana Rodovalho Doriqui, Davut Pehlivan, Shalini N. Jhangiani, Centers for Mendelian Genomics, Katrin Õunap, Cheryl R. Greenberg, Kaya Bilguvar, Carol L. Clericuzio, Cynthia J. Curry, Taila Hartley, Julie Lauzon, Michael J. Bamshad, Timothy Poterba, R. Brian Lowry, Jill A. Fahrner, Cullen M. Dutmer, M. E. Suzanne Lewis, Steve Buyske, Ender Karaca, Aziz Mhanni, William T. Gibson, Valentina Stanley, April Hall, Elke de Boer, Kristin D. Kernohan, Joseph G. Gleeson, P. Dane Witmer, Jungmin Choi, Danny Antaki, Małgorzata J.M. Nowaczyk, Sander Pajusalu, Anne H. O’Donnell-Luria, Sarah L. Sawyer, Zeynep Coban Akdemir, Tara C. Matise, Jennifer McEvoy-Venneri, Casie A. Genetti, Kym M. Boycott, Lynette S. Penney, Ada Hamosh, Eleina M. England, Deniz Torun, Maha S. Zaki, Deborah A. Nickerson
Publikováno v:
Am J Med Genet A
Dubowitz syndrome (DubS) is considered a recognizable syndrome characterized by a distinctive facial appearance and deficits in growth and development. There have been over 200 individuals reported with Dubowitz or a "Dubowitz-like" condition, althou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62d9fcc3e2207989ee26f7c3b468b59d
https://hdl.handle.net/11424/243257
https://hdl.handle.net/11424/243257
Autor:
Priya S. Kishnani, Tammy L. Yanovitch, S. Grace Prakalapakorn, Kyrieckos A Aleck, Alan D. Proia, Stephanie DeArmey, Nancy J. Mendelsohn
Publikováno v:
Journal of Pediatric Ophthalmology & Strabismus. 51:355-362
Purpose: To report the ophthalmologic and histologic findings in a series of children with infantile Pompe disease treated with enzyme replacement therapy (ERT). Methods: Records of children with infantile Pompe disease treated with ERT who had at le
Autor:
Estelle Colin, Jens Daniel, Alban Ziegler, Jamal Wakim, Aurora Scrivo, Tobias B. Haack, Salim Khiati, Anne-Sophie Denommé, Patrizia Amati-Bonneau, Majida Charif, Vincent Procaccio, Pascal Reynier, Kyrieckos A. Aleck, Lorenzo D. Botto, Claudia Lena Herper, Charlotte Sophia Kaiser, Rima Nabbout, Sylvie N’Guyen, José Antonio Mora-Lorca, Birgit Assmann, Stine Christ, Thomas Meitinger, Tim M. Strom, Holger Prokisch, Antonio Miranda-Vizuete, Georg F. Hoffmann, Guy Lenaers, Pascale Bomont, Eva Liebau, Dominique Bonneau, Emmanuelle Génin, Dominique Campion, Jean-François Dartigues, Jean-François Deleuze, Jean-Charles Lambert, Richard Redon, Thomas Ludwig, Benjamin Grenier-Boley, Sébastien Letort, Pierre Lindenbaum, Vincent Meyer, Olivier Quenez, Christian Dina, Céline Bellenguez, Camille Charbonnier -Le Clézio, Joanna Giemza, Stéphanie Chatel, Claude Férec, Hervé Le Marec, Luc Letenneur, Gaël Nicolas, Karen Rouault, Delphine Bacq, Anne Boland, Doris Lechner
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, 2016, Equipe 3 Equipe 4, 99 (3), pp.695--703. ⟨10.1016/j.ajhg.2016.06.030⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2016, Equipe 3 Equipe 4, 99 (3), pp.695--703. ⟨10.1016/j.ajhg.2016.06.030⟩
American Journal of Human Genetics, 2016, Equipe 3 Equipe 4, 99 (3), pp.695--703. ⟨10.1016/j.ajhg.2016.06.030⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2016, Equipe 3 Equipe 4, 99 (3), pp.695--703. ⟨10.1016/j.ajhg.2016.06.030⟩
International audience; Via whole-exome sequencing, we identified rare autosomal-recessive variants in UBA5 in five children from four unrelated families affected with a similar pattern of severe intellectual deficiency, microcephaly, movement disord
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59339d7ead2b4652420feb3bb7254942
https://hal.science/hal-01831597
https://hal.science/hal-01831597
Autor:
Cynthia J. Curry, Margarita Raygada, Raoul C.M. Hennekam, Virginia Kimonis, John M. Graham, Alexa Kidd, David J. Amor, Helen Murphy, Annmarie Sommer, Salim Aftimos, Maureen Bocian, Amy Shealy, Michael T. Gabbett, Graeme C.M. Black, Susan Tomkins, Lakshmi Mehta, Bernhard Zabel, Michael Field, Joyce T. Turner, Margot I. Van Allen, Mark J. Stephan, Wendy E. Smith, Sally Ann Lynch, David Tilstra, Janice Zunich, Anne Chun Hui Tsai, Alan F. Rope, Pradeep Vasudevan, Kenneth N. Rosenbaum, Robert J. Hopkin, Julie C. Sapp, Moran Gal, Kyrieckos A. Aleck, Hülya Kayserili, Jennifer J. Johnston, Angela E. Lin, Julie McGaughran, Leslie G. Biesecker, G. Bradley Schaefer, Ruth Day, Joann Bodurtha, Ikuma Fujiwara, Heather J. Stalker, Dian Donnai, Melissa K. Maisenbacher, Peter Hedera, Maria Soller, Sahar Mansour, Nathaniel H. Robin, Joseph H. Hersh, Pamela Trapane, Gerald F. Cox, Bernhard Steiner
Publikováno v:
Human mutation, 31(10), 1142-1154. Wiley-Liss Inc.
A range of phenotypes including Greig cephalopolysyndactyly and Pallister-Hall syndromes (GCPS, PHS) are caused by pathogenic mutation of the GLI3 gene. To characterize the clinical variability of GLI3 mutations, we present a subset of a cohort of 17
Concomitant achondroplasia and Chiari II malformation: A double-hit at the cervicomedullary junction
We report the first case of a neonate with concurrent Chiari II malformation and achondroplasia. Although rare, both these conditions contribute to several deleterious anatomical changes at the cervicomedullary junction and thus predispose to acute h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::753c5339b664b1ac8d205e8cecae2a26
https://europepmc.org/articles/PMC4233428/
https://europepmc.org/articles/PMC4233428/
Autor:
J. Edward Spence, Lynne M. Bird, Joyce T. Turner, R. Neil Schimke, Heidi A. Heilstedt, Lakshmi Mehta, Leslie G. Biesecker, Jan Blancato, Jennifer J. Johnston, Isabelle M. Olivos-Glander, Kyrieckos A. Aleck
Publikováno v:
American Journal of Medical Genetics. :236-242
Greig cephalopolysyndactyly syndrome (GCPS) is caused by haploinsufficiency of GLI3 on 7p13. Features of GCPS include polydactyly, macrocephaly, and hypertelorism, and may be associated with cognitive deficits and abnormalities of the corpus callosum
Autor:
Kyrieckos A. Aleck, Douglas L. Bartley
Publikováno v:
American Journal of Medical Genetics. 72:253-256
We report on a patient with malformations following long-term and high-dose maternal fluconazole use during pregnancy. The patient had exorbitism, a large pear-shaped nose, “dysplastic” ears, and radiohumeral synostosis. He is similar to three pr
Publikováno v:
Pediatric dermatology. 27(3)
Cardiofaciocutaneous syndrome is a rare genetic disorder characterized by dysmorphic facial features and neurologic, cardiac, ophthalmologic, and dermatologic findings. Previously reported skin and hair findings in cardiofaciocutaneous syndrome inclu
Publikováno v:
American Journal of Medical Genetics. 85:2-4
We present the case of a patient with true hermaphroditism and partial duplication of chromosome 22. Cytogenetic evaluation showed no evidence of a Y chromosome in blood, skin, or gonadal tissue. Additional investigations using molecular probes showe
Autor:
John M. Opitz, M L Guion-Almeida, A L Aronson, H F Mitchell, R A Price, Nathaniel H. Robin, R A Martin, L G Leichtman, Judith Allanson, Claire O. Leonard, Maximilian Muenke, George J. Feldman, Renata Laxova, Rosanna Weksberg, Barbara K. Burton, Kevin D. Josephson, Kyrieckos A. Aleck
Publikováno v:
Nature Genetics. 11:459-461
Opitz syndrome (OS, McKusick 145410) is a well described genetic syndrome affecting multiple organ systems whose cardinal manifestations include widely spaced eyes and hypospadias (Fig. 1). It was first reported as two separate entities, BBB syndrome