Novel TMEM67 mutations and genotype-phenotype correlates in Meckelin-related ciliopathies
- Author
- Miriam Iannicelli, Francesco Brancati, Soumaya Mougou-Zerelli, Annalisa Mazzotta, Sophie Thomas, Nadia Elkhartoufi, Lorena Travaglini, Celine Gomes, Gian Luigi Ardissino, Enrico Bertini, Eugen Boltshauser, Pierangela Castorina, Stefano D'Arrigo, Rita Fischetto, Brigitte Leroy, Philippe Loget, Maryse Bonniere, Lena Starck, Julia Tantau, Barbara Gentilin, Silvia Majore, Dominika Swistun, Elizabeth Flori, Faustina Lalatta, Chiara Pantaleoni, Johannes Penzien, Paola Grammatico, Bruno Dallapiccola, Joseph G Gleeson, Tania Attie-Bitach, Enza Maria Valente, - International JSRD Study Group and Rudy Van Coster (UGent)
- Organization
- Keywords
- CILIARY, NEPHRONOPHTHISIS, MKS3, TMEM67, DISEASES, DEFECTS, Meckel syndrome, PRIMARY CILIUM, congenital hepatic fibrosis, Joubert syndrome, COACH syndrome, JOUBERT-SYNDROME, GRUBER-SYNDROME
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Citation
Please use this url to cite or link to this publication: http://hdl.handle.net/1854/LU-1061166
- MLA
- Iannicelli, Miriam, et al. “Novel TMEM67 Mutations and Genotype-Phenotype Correlates in Meckelin-Related Ciliopathies.” HUMAN MUTATION, vol. 31, no. 5, 2010, pp. E1319–31, doi:10.1002/humu.21239.
- APA
- Iannicelli, M., Brancati, F., Mougou-Zerelli, S., Mazzotta, A., Thomas, S., Elkhartoufi, N., … Van Coster, R. (2010). Novel TMEM67 mutations and genotype-phenotype correlates in Meckelin-related ciliopathies. HUMAN MUTATION, 31(5), E1319–E1331. https://doi.org/10.1002/humu.21239
- Chicago author-date
- Iannicelli, Miriam, Francesco Brancati, Soumaya Mougou-Zerelli, Annalisa Mazzotta, Sophie Thomas, Nadia Elkhartoufi, Lorena Travaglini, et al. 2010. “Novel TMEM67 Mutations and Genotype-Phenotype Correlates in Meckelin-Related Ciliopathies.” HUMAN MUTATION 31 (5): E1319–31. https://doi.org/10.1002/humu.21239.
- Chicago author-date (all authors)
- Iannicelli, Miriam, Francesco Brancati, Soumaya Mougou-Zerelli, Annalisa Mazzotta, Sophie Thomas, Nadia Elkhartoufi, Lorena Travaglini, Celine Gomes, Gian Luigi Ardissino, Enrico Bertini, Eugen Boltshauser, Pierangela Castorina, Stefano D’Arrigo, Rita Fischetto, Brigitte Leroy, Philippe Loget, Maryse Bonniere, Lena Starck, Julia Tantau, Barbara Gentilin, Silvia Majore, Dominika Swistun, Elizabeth Flori, Faustina Lalatta, Chiara Pantaleoni, Johannes Penzien, Paola Grammatico, Bruno Dallapiccola, Joseph G Gleeson, Tania Attie-Bitach, Enza Maria Valente, - International JSRD Study Group, and Rudy Van Coster. 2010. “Novel TMEM67 Mutations and Genotype-Phenotype Correlates in Meckelin-Related Ciliopathies.” HUMAN MUTATION 31 (5): E1319–E1331. doi:10.1002/humu.21239.
- Vancouver
- 1.Iannicelli M, Brancati F, Mougou-Zerelli S, Mazzotta A, Thomas S, Elkhartoufi N, et al. Novel TMEM67 mutations and genotype-phenotype correlates in Meckelin-related ciliopathies. HUMAN MUTATION. 2010;31(5):E1319–31.
- IEEE
- [1]M. Iannicelli et al., “Novel TMEM67 mutations and genotype-phenotype correlates in Meckelin-related ciliopathies,” HUMAN MUTATION, vol. 31, no. 5, pp. E1319–E1331, 2010.
@article{1061166, author = {{Iannicelli, Miriam and Brancati, Francesco and Mougou-Zerelli, Soumaya and Mazzotta, Annalisa and Thomas, Sophie and Elkhartoufi, Nadia and Travaglini, Lorena and Gomes, Celine and Ardissino, Gian Luigi and Bertini, Enrico and Boltshauser, Eugen and Castorina, Pierangela and D'Arrigo, Stefano and Fischetto, Rita and Leroy, Brigitte and Loget, Philippe and Bonniere, Maryse and Starck, Lena and Tantau, Julia and Gentilin, Barbara and Majore, Silvia and Swistun, Dominika and Flori, Elizabeth and Lalatta, Faustina and Pantaleoni, Chiara and Penzien, Johannes and Grammatico, Paola and Dallapiccola, Bruno and Gleeson, Joseph G and Attie-Bitach, Tania and Valente, Enza Maria and International JSRD Study Group, - and Van Coster, Rudy}}, issn = {{1059-7794}}, journal = {{HUMAN MUTATION}}, keywords = {{CILIARY,NEPHRONOPHTHISIS,MKS3,TMEM67,DISEASES,DEFECTS,Meckel syndrome,PRIMARY CILIUM,congenital hepatic fibrosis,Joubert syndrome,COACH syndrome,JOUBERT-SYNDROME,GRUBER-SYNDROME}}, language = {{eng}}, number = {{5}}, pages = {{E1319--E1331}}, title = {{Novel TMEM67 mutations and genotype-phenotype correlates in Meckelin-related ciliopathies}}, url = {{http://doi.org/10.1002/humu.21239}}, volume = {{31}}, year = {{2010}}, }
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