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Items: 1 to 20 of 29

1.
Biallelic loss of function variants in FUZ result in an orofaciodigital syndrome
Swati Singh, Sheela Nampoothiri, Dhanya Lakshmi Narayanan, Chakshu Chaudhry, Sandesh Salvankar, Katta M. Girisha
Eur J Hum Genet. 2024 Aug; 32(8): 1022–1026. Published online 2024 May 3. doi: 10.1038/s41431-024-01619-6
PMCID:
PMC11291644
ArticlePDF–848K
2.
Syndromic ciliopathy: a taiwanese single-center study
Yu-Wen Pan, Tsung-Ying Ou, Yen-Yin Chou, Pao-Lin Kuo, Hui-Pin Hsiao, Pao-Chin Chiu, Ju-Li Lin, Fu-Sung Lo, Chung-Hsing Wang, Peng-Chieh Chen, Meng-Che Tsai
BMC Med Genomics. 2024; 17: 106. Published online 2024 Apr 26. doi: 10.1186/s12920-024-01880-0
PMCID:
PMC11046915
ArticlePDF–1.6M
3.
Pathogenic RAB34 variants impair primary cilium assembly and cause a novel oral-facial-digital syndrome
Ange-Line Bruel, Anil Kumar Ganga, Lenka Nosková, Irene Valenzuela, Jelena Martinovic, Yannis Duffourd, Marie Zikánová, Filip Majer, Stanislav Kmoch, Markéta Mohler, Jingbo Sun, Lauren K Sweeney, Núria Martínez-Gil, Christel Thauvin-Robinet, David K Breslow
Hum Mol Genet. 2023 Sep 15; 32(18): 2822–2831. Published online 2023 Jun 29. doi: 10.1093/hmg/ddad109
PMCID:
PMC10481091
ArticlePDF–1.0M
4.
Whole‐exome sequencing identified novel variants in CPLANE1 that causes oral‐facial‐digital syndrome Ⅵ by inducing primary cilia abnormality
Wen Qian, Xinlei Liu, Zhengrong Wang, Yongjie Xu, Jingzhi Zhang, Haizhi Li, Qiang Zhong, Chengcheng Li, Liying Zhu, Zunlun Zhou, Wei Pan
J Cell Mol Med. 2022 Jun; 26(11): 3213–3222. Published online 2022 May 18. doi: 10.1111/jcmm.17326
PMCID:
PMC9170817
ArticlePDF–3.9M
5.
A rare triad of morning glory disc anomaly, moyamoya vasculopathy, and transsphenoidal cephalocele: pathophysiological considerations and surgical management
Marco Pavanello, Pietro Fiaschi, Andrea Accogli, Mariasavina Severino, Domenico Tortora, Gianluca Piatelli, Valeria Capra
Neurol Sci. 2021; 42(12): 5433–5439. Published online 2021 Apr 6. doi: 10.1007/s10072-021-05221-2
PMCID:
PMC8642253
ArticlePDF–4.0M
6.
Expanding the Phenotype of the FAM149B1-Related Ciliopathy and Identification of Three Neurogenetic Disorders in a Single Family
Sandy Siegert, Gabriel T. Mindler, Christof Brücke, Andreas Kranzl, Janina Patsch, Markus Ritter, Andreas R. Janecke, Julia Vodopiutz
Genes (Basel) 2021 Nov; 12(11): 1648. Published online 2021 Oct 20. doi: 10.3390/genes12111648
PMCID:
PMC8622907
ArticlePDF–710K
7.
Ciliopathic micrognathia is caused by aberrant skeletal differentiation and remodeling
Christian Louis Bonatto Paese, Evan C. Brooks, Megan Aarnio-Peterson, Samantha A. Brugmann
Development. 2021 Feb 15; 148(4): dev194175. Published online 2021 Feb 15. doi: 10.1242/dev.194175
PMCID:
PMC7903998
Article
8.
The splice c.1815G>A variant in KIAA0586 results in a phenotype bridging short-rib-polydactyly and oral-facial-digital syndrome: A case report and literature review
Dario Cocciadiferro, Emanuele Agolini, Maria Cristina Digilio, Lorenzo Sinibaldi, Marco Castori, Evelina Silvestri, Andrea Dotta, Bruno Dallapiccola, Antonio Novelli
Medicine (Baltimore) 2020 Feb; 99(8): e19169. Published online 2020 Feb 21. doi: 10.1097/MD.0000000000019169
PMCID:
PMC7034684
ArticlePDF–550K
9.
Is There a Future for Anti-CD38 Antibody Therapy in Systemic Autoimmune Diseases?
Devis Benfaremo, Armando Gabrielli
Cells. 2020 Jan; 9(1): 77. Published online 2019 Dec 27. doi: 10.3390/cells9010077
PMCID:
PMC7016693
ArticlePDF–274K
10.
Genome-wide association study of eosinophilic granulomatosis with polyangiitis reveals genomic loci stratified by ANCA status
Paul A Lyons, James E Peters, Federico Alberici, James Liley, Richard M. R. Coulson, William Astle, Chiara Baldini, Francesco Bonatti, Maria C Cid, Heather Elding, Giacomo Emmi, Jörg Epplen, Loïc Guillevin, David R. W. Jayne, Tao Jiang, Iva Gunnarsson, Peter Lamprecht, Stephen Leslie, Mark A. Little, Davide Martorana, Frank Moosig, Thomas Neumann, Sophie Ohlsson, Stefanie Quickert, Giuseppe A. Ramirez, Barbara Rewerska, Georg Schett, Renato A. Sinico, Wojciech Szczeklik, Vladimir Tesar, Damjan Vukcevic, The European Vasculitis Genetics Consortium, Benjamin Terrier, Richard A Watts, Augusto Vaglio, Julia U Holle, Chris Wallace, Kenneth G. C. Smith
Nat Commun. 2019; 10: 5120. Published online 2019 Nov 12. doi: 10.1038/s41467-019-12515-9
PMCID:
PMC6851141
ArticlePDF–1.4M
11.
Autosomal Recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia
Julien Thevenon, Laurence Duplomb, Shubha Phadke, Thibaut Eguether, Aline Saunier, Magali Avila, Virginie Carmignac, Ange-Line Bruel, Judith St-Onge, Yannis Duffourd, Gregory J. Pazour, Brunella Franco, Tania Attie-Bitach, Alice Masurel-Paulet, Jean-Baptiste Rivière, Valérie Cormier-Daire, Christophe Philippe, Laurence Faivre, Christel Thauvin-Robinet
Clin Genet. Author manuscript; available in PMC 2018 Jan 12.
Published in final edited form as: Clin Genet. 2016 Dec; 90(6): 509–517. Published online 2016 Apr 29. doi: 10.1111/cge.12785
PMCID:
PMC5765760
ArticlePDF–906K
12.
Ciliopathy Protein Tmem107 Plays Multiple Roles in Craniofacial Development
P. Cela, M. Hampl, N.A. Shylo, K.J. Christopher, M. Kavkova, M. Landova, T. Zikmund, S.D. Weatherbee, J. Kaiser, M. Buchtova
J Dent Res. 2018 Jan; 97(1): 108–117. Published online 2017 Sep 27. doi: 10.1177/0022034517732538
PMCID:
PMC5755812
ArticlePDF–3.5M
13.
Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies
A. Hammarsjö, Z. Wang, R. Vaz, F. Taylan, M. Sedghi, K. M. Girisha, D. Chitayat, K. Neethukrishna, P. Shannon, R. Godoy, K. Gowrishankar, A. Lindstrand, J. Nasiri, M. Baktashian, P. T. Newton, L. Guo, W. Hofmeister, M. Pettersson, A. S. Chagin, G. Nishimura, L. Yan, N. Matsumoto, A. Nordgren, N. Miyake, G. Grigelioniene, S. Ikegawa
Sci Rep. 2017; 7: 15585. Published online 2017 Nov 14. doi: 10.1038/s41598-017-15442-1
PMCID:
PMC5686170
ArticlePDF–6.9M
14.
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes
Susanne Roosing, Marta Romani, Mala Isrie, Rasim Ozgur Rosti, Alessia Micalizzi, Damir Musaev, Tommaso Mazza, Lihadh Al-gazali, Umut Altunoglu, Eugen Boltshauser, Stefano D'Arrigo, Bart De Keersmaecker, Hülya Kayserili, Sarah Brandenberger, Ichraf Kraoua, Paul R Mark, Trudy McKanna, Joachim Van Keirsbilck, Philippe Moerman, Andrea Poretti, Ratna Puri, Hilde Van Esch, Joseph G Gleeson, Enza Maria Valente
J Med Genet. 2016 Sep; 53(9): 608–615. Published online 2016 May 6. doi: 10.1136/jmedgenet-2016-103832
PMCID:
PMC5013089
ArticlePDF–797K
15.
12 year follow up of enzyme-replacement therapy in two siblings with attenuated mucopolysaccharidosis I: the important role of early treatment
Orazio Gabrielli, Lorne A. Clarke, Anna Ficcadenti, Lucia Santoro, Lucia Zampini, Nicola Volpi, Giovanni V. Coppa
BMC Med Genet. 2016; 17: 19. Published online 2016 Mar 10. doi: 10.1186/s12881-016-0284-4
PMCID:
PMC4785727
ArticlePDF–1.4M
16.
The pathogenesis of the clinical features of oral-facial-digital syndrome type I
Wael M. AlKattan, Mohammad M. Al-Qattan, Sameer A. Bafaqeeh
Saudi Med J. 2015 Nov; 36(11): 1277–1284. doi: 10.15537/smj.2015.11.12446
PMCID:
PMC4673363
ArticlePDF–2.2M
17.
Exome Sequencing Identifies a Homozygous C5orf42 Variant in a Turkish Kindred With Oral-Facial-Digital Syndrome Type VI
Yavuz Bayram, Hatip Aydin, Tomasz Gambin, Zeynep Coban Akdemir, Mehmed M. Atik, Ender Karaca, Ali Karaman, Davut Pehlivan, Shalini N. Jhangiani, Richard A. Gibbs, James R. Lupski
Am J Med Genet A. Author manuscript; available in PMC 2015 Sep 1.
Published in final edited form as: Am J Med Genet A. 2015 Sep; 167(9): 2132–2137. Published online 2015 Apr 6. doi: 10.1002/ajmg.a.37092
PMCID:
PMC4545386
ArticlePDF–657K
18.
Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?
Marta Romani, Francesca Mancini, Alessia Micalizzi, Andrea Poretti, Elide Miccinilli, Patrizia Accorsi, Emanuela Avola, Enrico Bertini, Renato Borgatti, Romina Romaniello, Serdar Ceylaner, Giangennaro Coppola, Stefano D’Arrigo, Lucio Giordano, Andreas R. Janecke, Mario Lituania, Kathrin Ludwig, Loreto Martorell, Tommaso Mazza, Sylvie Odent, Lorenzo Pinelli, Pilar Poo, Margherita Santucci, Sabrina Signorini, Alessandro Simonati, Ronen Spiegel, Franco Stanzial, Maja Steinlin, Brahim Tabarki, Nicole I. Wolf, Federica Zibordi, Eugen Boltshauser, Enza Maria Valente
Hum Genet. 2015; 134(1): 123–126. Published online 2014 Nov 19. doi: 10.1007/s00439-014-1508-3
PMCID:
PMC4282684
ArticlePDF–354K
19.
SAS-1 Is a C2 Domain Protein Critical for Centriole Integrity in C. elegans
Lukas von Tobel, Tamara Mikeladze-Dvali, Marie Delattre, Fernando R. Balestra, Simon Blanchoud, Susanne Finger, Graham Knott, Thomas Müller-Reichert, Pierre Gönczy
PLoS Genet. 2014 Nov; 10(11): e1004777. Published online 2014 Nov 20. doi: 10.1371/journal.pgen.1004777
PMCID:
PMC4238951
ArticlePDF–2.7M
20.
Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients
Lucia Micale, Bartolomeo Augello, Carmela Fusco, Angelo Selicorni, Maria N Loviglio, Margherita Cirillo Silengo, Alexandre Reymond, Barbara Gumiero, Federica Zucchetti, Ester V D'Addetta, Elga Belligni, Alessia Calcagnì, Maria C Digilio, Bruno Dallapiccola, Francesca Faravelli, Francesca Forzano, Maria Accadia, Aldo Bonfante, Maurizio Clementi, Cecilia Daolio, Sofia Douzgou, Paola Ferrari, Rita Fischetto, Livia Garavelli, Elisabetta Lapi, Teresa Mattina, Daniela Melis, Maria G Patricelli, Manuela Priolo, Paolo Prontera, Alessandra Renieri, Maria A Mencarelli, Gioacchino Scarano, Matteo della Monica, Benedetta Toschi, Licia Turolla, Alessandra Vancini, Adriana Zatterale, Orazio Gabrielli, Leopoldo Zelante, Giuseppe Merla
Orphanet J Rare Dis. 2011; 6: 38. Published online 2011 Jun 9. doi: 10.1186/1750-1172-6-38
PMCID:
PMC3141365
ArticlePDF–1.6M

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