Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Kayserili H"'
Autor:
Elouej S; Aix Marseille Univ, INSERM, MMG, U1251, Marseille, France., Harhouri K; Aix Marseille Univ, INSERM, MMG, U1251, Marseille, France., Le Mao M; MitoLab, Mitochondrial Medicine Research Centre, Institut MITOVASC, CNRS UMR 6015, INSERM U1083, Université d'Angers, CHU d'Angers, Angers, France., Baujat G; Department of Medical Genetics, INSERM UMR 1163, Paris Descartes-Sorbonne Paris Cité University, IMAGINE Institute, Necker Enfants Malades Hospital, Paris, France., Nampoothiri S; Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Centre, AIMS Ponekkara PO Cochin, Kerala, India., Kayserili H; Medical Genetics Department, Koç University, School of Medicine (KUSoM), Istanbul, Turkey., Menabawy NA; Neurology and Metabolic Division, Cairo University Children Hospital, Cairo, Egypt., Selim L; Neurology and Metabolic Division, Cairo University Children Hospital, Cairo, Egypt., Paneque AL; Medical Genetics Service Specialties Hospital FF AA No.1, Quito, Ecuador., Kubisch C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Rubinsztajn R; Pole of Anesthesiology and Reanimation, Necker Enfants Malades Hospital, Paris, France., Charar C; Department of Genetics, Institute of Life Sciences, Hebrew University of Jerusalem, Jerusalem, Israel., Bartoli C; Aix Marseille Univ, INSERM, MMG, U1251, Marseille, France., Airault C; Aix Marseille Univ, INSERM, MMG, U1251, Marseille, France., Deleuze JF; Centre National de Recherche en Génomique Humaine (CNRGH) and Centre d'Etude du Polymorphisme Humain (CEPH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay and Fondation Jean Dausset, Paris, France., Rötig A; INSERM UMR1163, Institut Imagine, Paris, France., Bauer P; CENTOGENE AG, Rostock, Germany., Pereira C; CENTOGENE AG, Rostock, Germany., Loh A; Institute of Medical Biology, A*STAR, Singapore, Singapore., Escande-Beillard N; Medical Genetics Department, Koç University, School of Medicine (KUSoM), Istanbul, Turkey.; Institute of Medical Biology, A*STAR, Singapore, Singapore., Muchir A; Sorbonne Université, INSERM, Institute of Myology, Center of Research in Myology, Paris, France., Martino L; CeleScreen SAS, Paris, France., Gruenbaum Y; Department of Genetics, Institute of Life Sciences, Hebrew University of Jerusalem, Jerusalem, Israel., Lee SH; CeleScreen SAS, Paris, France., Manivet P; CeleScreen SAS, Paris, France.; APHP, Biobank Lariboisière BB-0033-00064, Platform of BioPathology and Innovative Technologies in Health, Hôpital Lariboisière, Paris, France.; INSERM UMR1141 « NeuroDiderot », Université de Paris, Paris, France., Lenaers G; MitoLab, Mitochondrial Medicine Research Centre, Institut MITOVASC, CNRS UMR 6015, INSERM U1083, Université d'Angers, CHU d'Angers, Angers, France., Reversade B; Medical Genetics Department, Koç University, School of Medicine (KUSoM), Istanbul, Turkey.; Institute of Medical Biology, A*STAR, Singapore, Singapore., Lévy N; Aix Marseille Univ, INSERM, MMG, U1251, Marseille, France.; Department of Medical Genetics, La Timone Children's Hospital, Marseille, France., De Sandre-Giovannoli A; Aix Marseille Univ, INSERM, MMG, U1251, Marseille, France. annachiara.desandre-giovannoli@univ-amu.fr.; Department of Medical Genetics, La Timone Children's Hospital, Marseille, France. annachiara.desandre-giovannoli@univ-amu.fr.; Biological Resource Center (CRB-TAC), Assistance Publique Hôpitaux de Marseille, La Timone Children's Hospital, Marseille, France. annachiara.desandre-giovannoli@univ-amu.fr.
Publikováno v:
Nature communications [Nat Commun] 2020 Sep 11; Vol. 11 (1), pp. 4589. Date of Electronic Publication: 2020 Sep 11.
Autor:
Vandervore LV; Department of Clinical Genetics, Erasmus University Medical Center, PO Box 2040, 3000 CA Rotterdam, the Netherlands; Neurogenetics Research Group, Research Cluster Reproduction, Genetics and Regenerative Medicine, Vrije Universiteit Brussel, Brussels 1090, Belgium; Center for Medical Genetics, UZ Brussel, Brussels 1090, Belgium., Schot R; Department of Clinical Genetics, Erasmus University Medical Center, PO Box 2040, 3000 CA Rotterdam, the Netherlands., Milanese C; Department of Molecular Genetics, Erasmus University Medical Center, PO Box 2040, 3000 CA Rotterdam, the Netherlands., Smits DJ; Department of Clinical Genetics, Erasmus University Medical Center, PO Box 2040, 3000 CA Rotterdam, the Netherlands., Kasteleijn E; Department of Clinical Genetics, Erasmus University Medical Center, PO Box 2040, 3000 CA Rotterdam, the Netherlands., Fry AE; Institute of Medical Genetics, University Hospital of Wales, Cardiff CF14 4XW, UK; Division of Cancer and Genetics, School of Medicine, Cardiff University, Cardiff CF14 4XN, UK., Pilz DT; West of Scotland Clinical Genetics Service, Queen Elizabeth University Hospital, Glasgow G51 4TF, UK., Brock S; Neurogenetics Research Group, Research Cluster Reproduction, Genetics and Regenerative Medicine, Vrije Universiteit Brussel, Brussels 1090, Belgium; Department of Pathology, UZ Brussels, Brussels 1090, Belgium., Börklü-Yücel E; Department of Clinical Genetics, Erasmus University Medical Center, PO Box 2040, 3000 CA Rotterdam, the Netherlands; Department of Cell Biology, Erasmus University Medical Center, PO Box 2040, 3000 CA Rotterdam, the Netherlands; Medical Genetics Department, Koç University School of Medicine, Istanbul 34010, Turkey., Post M; Department of Cell Biology, Erasmus University Medical Center, PO Box 2040, 3000 CA Rotterdam, the Netherlands., Bahi-Buisson N; Imagine Institute, INSERM UMR-1163, Laboratory Genetics and Embryology of Congenital Malformations, Paris Descartes University, Institut des Maladies Génétiques 24, Boulevard de Montparnasse, Paris 75015, France., Sánchez-Soler MJ; Sección Genética Médica, Servicio de Pediatría, Hospital Clínico Universitario Virgen de la Arrixaca, IMIB-Arrixaca, Murcia 30120, España., van Slegtenhorst M; Department of Clinical Genetics, Erasmus University Medical Center, PO Box 2040, 3000 CA Rotterdam, the Netherlands., Keren B; Département de génétique, Hôpital Pitié-Salpêtrière, Assistance Publique - Hôpitaux de Paris, Paris 75013, France., Afenjar A; Département de génétique et embryologie médicale, CRMR des malformations et maladies congénitales du cervelet et des déficits intellectuels de causes rares, GRC n°19, pathologies Congénitales du Cervelet-LeucoDystrophies, Sorbonne Universités, Hôpital Trousseau, Paris 75012, France., Coury SA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA., Tan WH; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; Harvard Medical School, Boston, MA 02115, USA., Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht University, 3584 CX, the Netherlands., de Vries LS; Department of Neonatology, University Medical Center Utrecht, Utrecht University, 3584 CX, the Netherlands., Fawcett KA; Medical Research Council (MRC) Computational Genomics Analysis and Training Programme, MRC Centre for Computational Biology, MRC Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford OX3 9DS, UK., Nikkels PGJ; Department of Pathology, University Medical Center Utrecht, Utrecht University, 3584 CX, the Netherlands., Bertoli-Avella A; Centogene AG, Rostock 18055, Germany., Al Hashem A; Division of Medical Genetic, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh 12233, Saudi Arabia., Alwabel AA; Division of General Pediatrics, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh 12233, Saudi Arabia., Tlili-Graiess K; Division of Neuroradiology, Department of Radiology, Prince Sultan Military Medical City, Riyadh 12233, Saudi Arabia., Efthymiou S; Department of Neuromuscular Disorders, University College London Institute of Neurology, Queen Square, London WC1N 3BG, UK., Zafar F; Department of Pediatric Neurology, Children's Hospital and Institute of Child Health, Multan 60000, Pakistan., Rana N; Department of Pediatric Neurology, Children's Hospital and Institute of Child Health, Multan 60000, Pakistan., Bibi F; University Institute of Biochemistry & Biotechnology, PMAS - Arid Agriculture University, Rawalpindi 43600, Pakistan., Houlden H; Department of Neuromuscular Disorders, University College London Institute of Neurology, Queen Square, London WC1N 3BG, UK., Maroofian R; Department of Neuromuscular Disorders, University College London Institute of Neurology, Queen Square, London WC1N 3BG, UK., Person RE; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., Crunk A; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., Savatt JM; The Autism & Developmental Medicine Institute at Geisinger, Danville, PA 17822, USA., Turner L; The Autism & Developmental Medicine Institute at Geisinger, Danville, PA 17822, USA., Doosti M; Department of Molecular Genetics, Next Generation Genetic Polyclinic, Mashhad 009851, Iran., Karimiani EG; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace London, SW17 ORE, UK; Innovative Medical Research Center, Mashhad Branch, Islamic Azdad University, Mashhad 9133736351, Iran., Saadi NW; College of Medicine / Baghdad University, Children Welfare Teaching Hospital, Medical City Complex, Baghdad 10001, Iraq., Akhondian J; Department of Pediatric Neurology, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad 009851, Iran., Lequin MH; Department of Radiology, University Medical Center Utrecht, Utrecht, 3584 CX, the Netherlands., Kayserili H; Medical Genetics Department, Koç University School of Medicine, Istanbul 34010, Turkey., van der Spek PJ; Department of Pathology, Clinical Bio-informatics, Erasmus University Medical Center, PO Box 2040, 3000 CA Rotterdam, the Netherlands., Jansen AC; Neurogenetics Research Group, Research Cluster Reproduction, Genetics and Regenerative Medicine, Vrije Universiteit Brussel, Brussels 1090, Belgium; Pediatric Neurology Unit, Department of Pediatrics, Universitair Ziekenhuis Brussel, Brussels 1090, Belgium., Kros JM; Department of Pathology, Erasmus University Medical Center, PO Box 2040, 3000 CA Rotterdam, the Netherlands., Verdijk RM; Department of Pathology, Erasmus University Medical Center, PO Box 2040, 3000 CA Rotterdam, the Netherlands., Milošević NJ; Croatian Institute of Brain Research, School of Medicine, University of Zagreb, Zagreb 10000, Croatia., Fornerod M; Department of Cell Biology, Erasmus University Medical Center, PO Box 2040, 3000 CA Rotterdam, the Netherlands., Mastroberardino PG; Department of Molecular Genetics, Erasmus University Medical Center, PO Box 2040, 3000 CA Rotterdam, the Netherlands; Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila 67100, Italy., Mancini GMS; Department of Clinical Genetics, Erasmus University Medical Center, PO Box 2040, 3000 CA Rotterdam, the Netherlands. Electronic address: g.mancini@erasmusmc.nl.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2019 Dec 05; Vol. 105 (6), pp. 1126-1147. Date of Electronic Publication: 2019 Nov 14.
Autor:
Lopez E; Equipe d'accueil EA 4271 GAD 'Génétique des Anomalies du Développement', IFR Santé STIC, Université de Bourgogne, Dijon, France, estl_l@yahoo.fr., Thauvin-Robinet C, Reversade B, Khartoufi NE, Devisme L, Holder M, Ansart-Franquet H, Avila M, Lacombe D, Kleinfinger P, Kaori I, Takanashi J, Le Merrer M, Martinovic J, Noël C, Shboul M, Ho L, Güven Y, Razavi F, Burglen L, Gigot N, Darmency-Stamboul V, Thevenon J, Aral B, Kayserili H, Huet F, Lyonnet S, Le Caignec C, Franco B, Rivière JB, Faivre L, Attié-Bitach T
Publikováno v:
Human genetics [Hum Genet] 2014 Mar; Vol. 133 (3), pp. 367-77. Date of Electronic Publication: 2013 Nov 01.
Autor:
Uzumcu A; Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey., Candan S, Toksoy G, Uyguner ZO, Karaman B, Eris H, Tatli B, Kayserili H, Yuksel A, Geckinli B, Yuksel-Apak M, Basaran S
Publikováno v:
Journal of genetics and genomics = Yi chuan xue bao [J Genet Genomics] 2009 Apr; Vol. 36 (4), pp. 251-6.
Autor:
Kalay E; Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands., Li Y, Uzumcu A, Uyguner O, Collin RW, Caylan R, Ulubil-Emiroglu M, Kersten FF, Hafiz G, van Wijk E, Kayserili H, Rohmann E, Wagenstaller J, Hoefsloot LH, Strom TM, Nürnberg G, Baserer N, den Hollander AI, Cremers FP, Cremers CW, Becker C, Brunner HG, Nürnberg P, Karaguzel A, Basaran S, Kubisch C, Kremer H, Wollnik B
Publikováno v:
Human mutation [Hum Mutat] 2006 Jul; Vol. 27 (7), pp. 633-9.
Autor:
Dowling O; Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA., Difeo A, Ramirez MC, Tukel T, Narla G, Bonafe L, Kayserili H, Yuksel-Apak M, Paller AS, Norton K, Teebi AS, Grum-Tokars V, Martin GS, Davis GE, Glucksman MJ, Martignetti JA
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2003 Oct; Vol. 73 (4), pp. 957-66. Date of Electronic Publication: 2003 Sep 12.
Autor:
van Bokhoven H; Department of Human Genetics, University Medical Centre, Nijmegen, The Netherlands. H.vanbokhoven@ANTRG.AZN.NL, Hamel BC, Bamshad M, Sangiorgi E, Gurrieri F, Duijf PH, Vanmolkot KR, van Beusekom E, van Beersum SE, Celli J, Merkx GF, Tenconi R, Fryns JP, Verloes A, Newbury-Ecob RA, Raas-Rotschild A, Majewski F, Beemer FA, Janecke A, Chitayat D, Crisponi G, Kayserili H, Yates JR, Neri G, Brunner HG
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2001 Sep; Vol. 69 (3), pp. 481-92. Date of Electronic Publication: 2001 Jul 17.
Autor:
Brancati, F., Iannicelli, M., Travaglini, L., Mazzotta, A., Bertini, E., Boltshauser, E., D?arrigo, S., Emma, F., Fazzi, E., Gallizzi, R., Gentile, M., Loncarevic, D., Mejaski-Bosnjak, V., Pantaleoni, C., Rigoli, L., Salpietro, C. D., Signorini, S., Stringini, G. R., Verloes, A., Zabloka, D., Dallapiccola, B., Gleeson, J. G., Valente, E. M., Zankl, A., Leventer, R., Smith, P. G., Janecke, A., D?hooghe, M., Sznajer, Y., Van Coster, R., Demerleir, L., Dias, K., Moco, C., Moreira, A., Ae Kim, C., Maegawa, G., Petkovic, D., Abdel-Salam, G. M. H., Abdel-Aleem, A., Zaki, M. S., Marti, I., Quijano-Roy, S., Sigaudy, S., De Lonlay, P., Romano, S., Touraine, R., Koenig, M., Lagier-Tourenne, C., Messer, J., Collignon, P., Wolf, N., Philippi, H., Tzeli, S. K., Halldorsson, S., Johannsdottir, J., Ludvigsson, P., Phadke, S. R., Udani, V., Stuart, B., Magee, A., Lev, D., Michelson, M., Ben-Zeev, B., Fischetto, R., Benedicenti, F., Stanzial, F., Borgatti, R., Accorsi, P., Battaglia, S., Giordano, L., Pinelli, L., Boccone, L., Bigoni, S., Ferlini, A., Donati, M. A., Caridi, G., Divizia, M. T., Faravelli, F., Ghiggeri, G., Pessagno, A., Briuglia, S., Tortorella, G., Adami, A., Castorina, P., Lalatta, F., Marra, G., Riva, D., Scelsa, B., Spaccini, L., Uziel, G., Giudice, E. D., Laverda, A. M., Ludwig, K., Permunian, A., Suppiej, A., Uggetti, C., Battini, R., Giacomo, M. D., Cilio, M. R., Di Sabato, M. L., Leuzzi, V., Parisi, P., Pollazzon, M., Silengo, M., De Vescovi, R., Greco, D., Romano, C., Cazzagon, M., Simonati, A., Al-Tawari, A. A., Bastaki, L., M('e)garban('e), A., Sabolic Avramovska, V., De Jong, M. M., Stromme, P., Koul, R., Rajab, A., Azam, M., Barbot, C., Martorell Sampol, L., Rodriguez, B., Pascual-Castroviejo, I., Teber, S., Anlar, B., Comu, S., Karaca, E., Kayserili, H., Y
Publikováno v:
Human Mutation, 30(2), E432-E442. Wiley-Liss Inc.
International JSRD Study Group 2009, ' MKS3/TMEM67 mutations are a major cause of COACH syndrome, a joubert syndrome related disorder with liver involvement ', Human Mutation, vol. 30, no. 2, pp. E432-E442 . https://doi.org/10.1002/humu.20924
International JSRD Study Group 2009, ' MKS3/TMEM67 mutations are a major cause of COACH syndrome, a joubert syndrome related disorder with liver involvement ', Human Mutation, vol. 30, no. 2, pp. E432-E442 . https://doi.org/10.1002/humu.20924
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert syndrome related disorder with liver involvement. The acronym COACH defines an autosomal recessive condition of Cerebellar vermis hypo/aplasia, Oligophrenia, congenital Ataxia, Colo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5516a353ea15c6d875abcec34c7ef0e6
http://hdl.handle.net/11588/677358
http://hdl.handle.net/11588/677358
Autor:
S. Kitsiou Tzeli, Hülya Kayserili, L. Giordano, B. Rodriguez, P. Collignon, V. Sabolic Avramovska, Silvana Briuglia, Christopher A. Walsh, Laila Bastaki, Amy Goldstein, Francesca Faravelli, F. Papadia, A. Permunian, Alessandro Simonati, S. Halldorsson, Gian Marco Ghiggeri, David G. Brooks, Clara Barbot, Kathryn J. Swoboda, Chiara Pantaleoni, O. D'Addato, Jason W. Caldwell, Maria Roberta Cilio, Soumaya Mougou-Zerelli, M. Vascotto, Andreas Zankl, Gaetano Tortorella, Julia Tantau, Elliott H. Sherr, Patrizia Accorsi, Maurizio Genuardi, Carmelo Salpietro, G. Marra, Pierangela Castorina, Petter Strømme, J. Johannsdottir, Bruno Dallapiccola, Kenton R. Holden, Donatella Greco, Maria Spanò, Pasquale Parisi, Roberta Battini, Paola Grammatico, P. Ludvigsson, Dorit Lev, Daria Riva, C. Ae Kim, WB Dobyns, L. Martorell Sampol, Robert P. Cruse, H. Raynes, Sabrina Signorini, A. Seward, Raoul C.M. Hennekam, Elena Andreucci, Manuela Priolo, Banu Anlar, Bernard Stuart, Christopher P. Bennett, S. Comu, Christopher Geoffrey Woods, Vlatka Mejaški-Bošnjak, J. Milisa, Eamonn Sheridan, Melissa Lees, C. Moco, Ender Karaca, Miriam Iannicelli, Annalisa Mazzotta, C. Dacou-Voutetakis, Tania Attié-Bitach, Philippe Loget, D. Petkovic, L. Demerleir, Loredana Boccone, Meriem Tazir, Kalpathy S. Krishnamoorthy, Damir Lončarević, Dominika Swistun, Yves Sznajer, Stefano D'Arrigo, Ginevra Zanni, Angela Barnicoat, Marina Michelson, L. I. Al Gazali, Vincenzo Leuzzi, G. Uziel, A. Adami, B. Gener Querol, V. Udani, M. Di Giacomo, Maryse Bonnière, Enrico Bertini, K. Dias, Edward Blair, Johannes M. Penzien, M. Cazzagon, Susana Quijano-Roy, Trine Prescott, Barbara Scelsa, Giuseppina Vitiello, Francesco Brancati, Gilda Stringini, Trudy McKanna, Roser Pons, Renato Borgatti, M. Gentile, Dean Sarco, C. Von Der Lippe, Eugen Boltshauser, Luigina Spaccini, A. Pessagno, Alex Magee, Marilena Briguglio, Margherita Silengo, Lena Starck, M. L. Di Sabato, Roshan Koul, Nicole I. Wolf, A. M. Laverda, Elizabeth Flori, Clotilde Lagier-Tourenne, A. Matuleviciene, Matloob Azam, Kathrin Ludwig, Ghada M H Abdel-Salam, Atıl Yüksel, Johannes R. Lemke, Stefania Bigoni, Elizabeth Said, Anna Rajab, Mary Kay Koenig, Andreas R. Janecke, Asma A. Al-Tawari, Agnese Suppiej, Henry Sanchez, Wendy K. Chung, P. Guanciali, Heike Philippi, Silvia Majore, E. DeMarco, J. Hahn, Gianluca Caridi, Marc D'Hooghe, M. M. De Jong, M. Akcakus, Franco Stanzial, Silvia Battaglia, Gian Luigi Ardissino, Giangennaro Coppola, Jane A. Hurst, Terry D. Sanger, Alessandra Renieri, Nadia Elkhartoufi, Rita Fischetto, Alex E. Clark, S. Strozzi, S. Romano, Alain Verloes, Marzia Pollazzon, Elisa Fazzi, L. Yates, Faustina Lalatta, Sabine Sigaudy, Alessandra D'Amico, Brigitte Leroy, Joel Victor Fluss, David Viskochil, Alice Abdel-Aleem, Darryl C. De Vivo, Padraic Grattan-Smith, Corrado Romano, D. Nicholl, Regine Schubert, A. Moreira, Claudia Izzi, Barbara Gentilin, Gustavo Maegawa, Céline Gomes, László Sztriha, C. Donahue, Luciana Rigoli, Jean Messer, Sophie Thomas, E. Del Giudice, R. Van Coster, André Mégarbané, Ignacio Pascual-Castroviejo, Alessandra Ferlini, Topcu, R. Touraine, Ginevra Guanti, Lorena Travaglini, L. Ali Pacha, R. De Vescovi, Enza Maria Valente, Filippo Bernardi, L. Carr, Shubha R. Phadke, S. Bernes, Maria Teresa Divizia, C. Daugherty, M. Akgul, C. Macaluso, Maha S. Zaki, E. Finsecke, Itxaso Marti, Lorenzo Pinelli, F. McKay, Maria Amorini, Joseph G. Gleeson, F. Benedicenti, Bruria Ben-Zeev, Carla Uggetti, R. Romoli, Richard J. Leventer, Francesco Emma, T. E. Gallager, P. De Lonlay, Marco Seri, Bernard L. Maria, M.A. Donati, Bosanka Jocic-Jakubi
Publikováno v:
International JSRD Study Group 2010, ' Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies ', Human Mutation, vol. 31, no. 5, pp. E1319-E1331 . https://doi.org/10.1002/humu.21239
Human Mutation, 31(5), E1319-E1331. Wiley-Liss Inc.
Human Mutation, 31(5), E1319-E1331. Wiley-Liss Inc.
Human ciliopathies are hereditary conditions caused by defects of proteins expressed at the primary cilium. Among ciliopathies, Joubert syndrome and related disorders (JSRD), Meckel syndrome (MKS) and nephronophthisis (NPH) present clinical and genet
Autor:
Louise Devisme, Jun-ichi Takanashi, Hülya Kayserili, Frédéric Huet, Jelena Martinovic, Catherine Noël, Tania Attié-Bitach, Muriel Holder, Nadia El Khartoufi, Estelle Lopez, Cédric Le Caignec, Jean-Baptiste Rivière, Pascale Kleinfinger, Ferechté Razavi, Hélène Ansart-Franquet, Nadège Gigot, Brunella Franco, Magali Avila, Irahara Kaori, Didier Lacombe, Julien Thevenon, Martine Le Merrer, Bernard Aral, Stanislas Lyonnet, Christel Thauvin-Robinet, Véronique Darmency-Stamboul, Bruno Reversade, Yeliz Güven, Lydie Burglen, Laurence Faivre, Lena Ho, Mohammad Shboul
Publikováno v:
Human genetics, 133(3), 367-377. Springer Verlag
Oral-facial-digital syndrome type VI (OFD VI) is a recessive ciliopathy defined by two diagnostic criteria: molar tooth sign (MTS) and one or more of the following: (1) tongue hamartoma (s) and/or additional frenula and/or upper lip notch; (2) mesoax
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d7838c7e9039ef326fa2f88aada94b0
https://pure.amc.nl/en/publications/c5orf42-is-the-major-gene-responsible-for-ofd-syndrome-type-vi(c45c493e-f2d6-4cea-b8ab-595ca4b5a1f0).html
https://pure.amc.nl/en/publications/c5orf42-is-the-major-gene-responsible-for-ofd-syndrome-type-vi(c45c493e-f2d6-4cea-b8ab-595ca4b5a1f0).html