Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies

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 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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8f64992e7a2eb93dc8f809d7d786fcf
https://doi.org/10.1002/humu.21239

Congenital Adrenal Hyperplasia Complicated by Central Precocious Puberty: Treatment with LHRH-Agonist Analogue

Autor: C. Dacou-Voutetakis, N. Karidis

Publikováno v: Annals of the New York Academy of Sciences. 687:250-254

Eight children with congenital adrenal hyperplasia and late initiation of corticosteroid treatment are included in the present study. Four of them received LHRHa treatment for the arrest of central precocious puberty, while the other four served as c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b12d209c518e0911d8719006ebb5e8c5
https://doi.org/10.1111/j.1749-6632.1993.tb43873.x

Gene symbol: TSH B. Disease: congenital hypothyroidism

Autor: A, Sertedaki, A, Papadimitriou, A, Voutetakis, A, Dracopoulou, M, Maniati-Christidi, C, Dacou-Voutetakis

Publikováno v: Human genetics. 115(2)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d85a5488aa8e8ac38f031fef92c82131
https://pubmed.ncbi.nlm.nih.gov/15300985

Genetic aspects of congenital adrenal hyperplasia

Autor: C, Dacou-Voutetakis, M, Maniati-Christidi, M, Dracopoulou-Vabouli

Publikováno v: Journal of pediatric endocrinologymetabolism : JPEM. 14

Data related to genetics of congenital adrenal hyperplasia with emphasis on CYP21 gene defects are briefly outlined. Mutations of the StAR gene lead to impaired translocation of cholesterol from the outer mitochondrial membrane to the inner mitochond

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::f4f970c5a0bbc5370b7076ee8d095825
https://pubmed.ncbi.nlm.nih.gov/11964027

Growth retardation, distinct oriental-like facies, glaucoma, brachydactyly, ventricular septal defect and speech disorder. An unknown entity

Autor: C, Dacou-Voutetakis, E, Bazopoulou-Kyrkanidou, S, Kyrkanides, C, Pangalos, A, Apostolakis

Publikováno v: Genetic counseling (Geneva, Switzerland). 10(3)

A caucasian boy with distinct oriental-like facies, short stature, brachydactyly, congenital ventricular septal defect, glaucoma, and speech disorder is reported. Routine laboratory tests, karyotype, and hormonal profile (IGF 1, growth hormone during

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::16b2ed8e6b598f376cbca795880617b3
https://pubmed.ncbi.nlm.nih.gov/10546095