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Items: 1 to 20 of 41

1.
Craniodentofacial Manifestations in a Rare Syndrome: Orofaciodigital Type IV (Mohr-Majewski Syndrome)
Meltem Ozdemir-Karatas, Didem Ozdemir-Ozenen, P. Suzanne Hart, Thomas C. Hart
Case Rep Dent. 2014; 2014: 605892. Published online 2014 Dec 21. doi: 10.1155/2014/605892
PMCID:
PMC4283451
AbstractArticlePDF–1.9M
2.
TCTN3 Mutations Cause Mohr-Majewski Syndrome
Sophie Thomas, Marine Legendre, Sophie Saunier, Bettina Bessières, Caroline Alby, Maryse Bonnière, Annick Toutain, Laurence Loeuillet, Katarzyna Szymanska, Frédérique Jossic, Dominique Gaillard, Mohamed Tahar Yacoubi, Soumaya Mougou-Zerelli, Albert David, Marie-Anne Barthez, Yves Ville, Christine Bole-Feysot, Patrick Nitschke, Stanislas Lyonnet, Arnold Munnich, Colin A. Johnson, Férechté Encha-Razavi, Valérie Cormier-Daire, Christel Thauvin-Robinet, Michel Vekemans, Tania Attié-Bitach
Am J Hum Genet. 2012 Aug 10; 91(2): 372–378. doi: 10.1016/j.ajhg.2012.06.017
PMCID:
PMC3415538
AbstractArticlePDF–714K
3.
Orofaciodigital syndrome type IV (Mohr-Majewski syndrome) with severe expression expanding the known spectrum of anomalies.
P Meinecke, H Hayek
J Med Genet. 1990 Mar; 27(3): 200–202. doi: 10.1136/jmg.27.3.200
PMCID:
PMC1017006
SummaryPage BrowsePDF–599K
4.
Tectonic gene mutations in patients with Joubert syndrome
Peter Huppke, Eike Wegener, Helena Böhrer-Rabel, Hanno J Bolz, Barbara Zoll, Jutta Gärtner, Carsten Bergmann
Eur J Hum Genet. 2015 May; 23(5): 616–620. Published online 2014 Aug 13. doi: 10.1038/ejhg.2014.160
PMCID:
PMC4402635
AbstractArticlePDF–835K
5.
Syndrome Coffin-Siris et anomalies bucco-dentaires : une nouvelle observation
Afaf Houb-Dine, Hammouti Jalila, Fatima Zaoui, Asmae Benkaddour
Tunis Med. 2023 Apr; 101(4): 456–459. French. Publication en ligne 2023 avr. 5.
PMCID:
PMC11217953
AbstractArticlePDF–546K
6.
Under-diagnosis of vector-borne diseases among individuals suspected of having Scrub Typhus in South Korea
Eun Jeong Won, Seong Hoon Kim, Kyeong Hwan Byeon, Chae-Hyeon Jeon, Seung-Ji Kang, Joo-Heon Park, Seung-Jung Kee, Hyun-Woo Choi
PLoS One. 2023; 18(6): e0286631. Published online 2023 Jun 2. doi: 10.1371/journal.pone.0286631
PMCID:
PMC10237470
AbstractArticlePDF–1.1M
7.
A splice site variant in TCTN3 underlies an atypical form of orofaciodigital syndrome IV
Shabir Hussain, Shoaib Nawaz, Hammal Khan, Anushree Acharya, Isabelle Schrauwen, Wasim Ahmad, Suzanne M. Leal
Ann Hum Genet. 2022 Nov; 86(6): 291–296. Published online 2022 Aug 30. doi: 10.1111/ahg.12462
PMCID:
PMC9804382
AbstractArticlePDF–622K
8.
INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex
Lauren G. Mascibroda, Mohammad Shboul, Nathan D. Elrod, Laurence Colleaux, Hanan Hamamy, Kai-Lieh Huang, Natoya Peart, Moirangthem Kiran Singh, Hane Lee, Barry Merriman, Jeanne N. Jodoin, Poojitha Sitaram, Laura A. Lee, Raja Fathalla, Baeth Al-Rawashdeh, Osama Ababneh, Mohammad El-Khateeb, Nathalie Escande-Beillard, Stanley F. Nelson, Yixuan Wu, Liang Tong, Linda J. Kenney, Sudipto Roy, William K. Russell, Jeanne Amiel, Bruno Reversade, Eric J. Wagner
Nat Commun. 2022; 13: 6054. Published online 2022 Oct 13. doi: 10.1038/s41467-022-33547-8
PMCID:
PMC9559116
AbstractArticlePDF–4.0M
9.
OFD1: One gene, several disorders
Nunziana Pezzella, Guglielmo Bove, Roberta Tammaro, Brunella Franco
Am J Med Genet C Semin Med Genet. 2022 Mar; 190(1): 57–71. Published online 2022 Feb 2. doi: 10.1002/ajmg.c.31962
PMCID:
PMC9303915
AbstractArticlePDF–2.5M
10.
Clinical heterogeneity and intrafamilial variability of Joubert syndrome in two siblings with CPLANE1 variants
Xiujuan Zhang, Yue Shen, Ping Li, Ruikun Cai, Chao Lu, Qian Li, Cuixia Chen, Yufei Yu, Tingting Cheng, Xian Wang, Minna Luo, Muqing Cao, Zongfu Cao, Xu Ma
Mol Genet Genomic Med. 2021 Jun; 9(6): e1682. Published online 2021 Apr 6. doi: 10.1002/mgg3.1682
PMCID:
PMC8222854
AbstractArticlePDF–872K
11.
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
AbstractArticle
12.
Regulation of autophagosome biogenesis by OFD1‐mediated selective autophagy
Manuela Morleo, Simona Brillante, Umberto Formisano, Luigi Ferrante, Fabrizia Carbone, Daniela Iaconis, Alessandro Palma, Viviana Buonomo, Angela Serena Maione, Paolo Grumati, Carmine Settembre, Brunella Franco
EMBO J. 2021 Feb 15; 40(4): e105120. Published online 2020 Dec 28. doi: 10.15252/embj.2020105120
PMCID:
PMC7883294
AbstractArticlePDF–2.5M
13.
Ciliary Genes in Renal Cystic Diseases
Anna Adamiok-Ostrowska, Agnieszka Piekiełko-Witkowska
Cells. 2020 Apr; 9(4): 907. Published online 2020 Apr 8. doi: 10.3390/cells9040907
PMCID:
PMC7226761
AbstractArticlePDF–1.6M
14.
Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans
Ranad Shaheen, Nan Jiang, Fatema Alzahrani, Nour Ewida, Tarfa Al-Sheddi, Eman Alobeid, Damir Musaev, Valentina Stanley, Mais Hashem, Niema Ibrahim, Firdous Abdulwahab, Abduljabbar Alshenqiti, Fatma Mujgan Sonmez, Nadia Saqati, Hamad Alzaidan, Mohammad M. Al-Qattan, Futwan Al-Mohanna, Joseph G. Gleeson, Fowzan S. Alkuraya
Am J Hum Genet. 2019 Apr 4; 104(4): 731–737. Published online 2019 Mar 21. doi: 10.1016/j.ajhg.2019.02.018
PMCID:
PMC6451727
AbstractArticlePDF–1.8M
15.
Characterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variants
Nicole J. Boczek, Katharina Hopp, Lacey Benoit, Daniel Kraft, Margot A. Cousin, Patrick R. Blackburn, Charles D. Madsen, Gavin R. Oliver, Asha A. Nair, Jie Na, Diana W. Bianchi, Geoffrey Beek, Peter C. Harris, Pavel Pichurin, Eric W. Klee
Eur J Hum Genet. 2018 Dec; 26(12): 1797–1809. Published online 2018 Aug 10. doi: 10.1038/s41431-018-0222-3
PMCID:
PMC6244354
AbstractArticlePDF–1.3M
16.
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
AbstractArticlePDF–3.5M
17.
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
AbstractArticlePDF–6.9M
18.
TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome
Nils J. Lambacher, Ange-Line Bruel, Teunis J. P. van Dam, Katarzyna Szymańska, Gisela G. Slaats, Stefanie Kuhns, Gavin J. McManus, Julie E. Kennedy, Karl Gaff, Ka Man Wu, Robin van der Lee, Lydie Burglen, Diane Doummar, Jean-Baptiste Rivière, Laurence Faivre, Tania Attié-Bitach, Sophie Saunier, Alistair Curd, Michelle Peckham, Rachel H. Giles, Colin A. Johnson, Martijn A. Huynen, Christel Thauvin-Robinet, Oliver E. Blacque
Nat Cell Biol. Author manuscript; available in PMC 2017 Sep 1.
Published in final edited form as: Nat Cell Biol. 2016 Jan; 18(1): 122–131. Published online 2015 Nov 23. doi: 10.1038/ncb3273
PMCID:
PMC5580800
AbstractArticlePDF–2.4M
19.
15 years of research on Oral-Facial-Digital syndromes: from 1 to 16 causal genes
Ange-Line Bruel, Brunella Franco, Yannis Duffourd, Julien Thevenon, Laurence Jego, Estelle Lopez, Jean-François Deleuze, Diane Doummar, Rachel H. Giles, Colin A. Johnson, Martijn A. Huynen, Véronique Chevrier, Lydie Burglen, Manuela Morleo, Isabelle Desguerres, Geneviève Pierquin, Bérénice Doray, Brigitte Gilbert-Dussardier, Bruno Reversade, Elisabeth Steichen-Gersdorf, Clarisse Baumann, Inusha Panigrahi, Anne Fargeot-Espaliat, Anne Dieux, Albert David, Alice Goldenberg, Ernie Bongers, Dominique Gaillard, Jesús Argente, Bernard Aral, Nadège Gigot, Judith St-Onge, Daniel Birnbaum, Shubha R. Phadke, Valérie Cormier-Daire, Thibaut Eguether, Gregory J. Pazour, Vicente Herranz-Pérez, Jaclyn S. Lee, Laurent Pasquier, Philippe Loget, Sophie Saunier, André Mégarbané, Olivier Rosnet, Michel R. Leroux, John B. Wallingford, Oliver E. Blacque, Maxence V. Nachury, Tania Attie-Bitach, Jean-Baptiste Rivière, Laurence Faivre, Christel Thauvin-Robinet
J Med Genet. Author manuscript; available in PMC 2017 Aug 15.
Published in final edited form as: J Med Genet. 2017 Jun; 54(6): 371–380. Published online 2017 Mar 13. doi: 10.1136/jmedgenet-2016-104436
PMCID:
PMC5557276
AbstractArticlePDF–786K
20.
Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral–facial–digital overlap syndrome
Jennifer J. Johnston, Chanjae Lee, Ingrid M. Wentzensen, Melissa A. Parisi, Molly M. Crenshaw, Julie C. Sapp, Jeffrey M. Gross, John B. Wallingford, Leslie G. Biesecker
Cold Spring Harb Mol Case Stud. 2017 Jul; 3(4): a001321. doi: 10.1101/mcs.a001321
PMCID:
PMC5495032
AbstractArticlePDF–1.1M

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