Molecular Analysis of Turkish Maroteaux-Lamy Patients and Identification of One Novel Mutation in the Arylsulfatase B (ARSB) Gene

Por Zanetti, Alessandra, Önenli-Mungan, Neslihan, Elcioglu, Nursel, Özbek, Mehmet Nuri, Kör, Deniz, Lenzini, Elisabetta, Scarpa, Maurizio, Tomanin, Rosella
Publicado em 2013

Novel and recurrent COL11A1 and COL2A1 mutations in the Marshall–Stickler syndrome spectrum

Por Guo, Long, Elcioglu, Nursel H, Wang, Zheng, Demirkol, Yasemin K, Isguven, Pinar, Matsumoto, Naomichi, Nishimura, Gen, Miyake, Noriko, Ikegawa, Shiro
Publicado no Hum Genome Var (2017)

Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia

Por Guo, Long, Elcioglu, Nursel H, Mizumoto, Shuji, Wang, Zheng, Noyan, Bilge, Albayrak, Hatice M, Yamada, Shuhei, Matsumoto, Naomichi, Miyake, Noriko, Nishimura, Gen, Ikegawa, Shiro
Publicado no J Hum Genet (2017)

Carpenter Syndrome: Extended RAB23 Mutation Spectrum and Analysis of Nonsense-mediated mRNA Decay

Por Jenkins, Dagan, Baynam, Gareth, De Catte, Luc, Elcioglu, Nursel, Gabbett, Michael T, Hudgins, Louanne, Hurst, Jane A, Jehee, Fernanda Sarquis, Oley, Christine, Wilkie, Andrew O M
Publicado em 2011

Spondylocheiro Dysplastic Form of the Ehlers-Danlos Syndrome—An Autosomal-Recessive Entity Caused by Mutations in the Zinc Transporter Gene SLC39A13

Por Giunta, Cecilia, Elçioglu, Nursel H., Albrecht, Beate, Eich, Georg, Chambaz, Céline, Janecke, Andreas R., Yeowell, Heather, Weis, MaryAnn, Eyre, David R., Kraenzlin, Marius, Steinmann, Beat
Publicado em 2008

Genetic and Mutational Analyses of a Large Multiethnic Bardet-Biedl Cohort Reveal a Minor Involvement of BBS6 and Delineate the Critical Intervals of Other Loci

Por Beales, Philip L., Katsanis, Nicholas, Lewis, Richard A., Ansley, Stephen J., Elcioglu, Nursel, Raza, Jamal, Woods, Michael O., Green, Jane S., Parfrey, Patrick S., Davidson, William S., Lupski, James R.
Publicado em 2001

Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis

Por Pehlivan, Davut, Akdemir, Zeynep Coban, Karaca, Ender, Bayram, Yavuz, Jhangiani, Shalini, Yildiz, Edibe, Muzny, Donna, Uluc, Kayihan, Gibbs, Richard A., Elcioglu, Nursel, Lupski, James R., Harel, Tamar
Publicado no Hum Genet (2015)

Rothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome

Por Colombo, Elisa A., Locatelli, Andrea, Cubells Sánchez, Laura, Romeo, Sara, Elcioglu, Nursel H., Maystadt, Isabelle, Esteve Martínez, Altea, Sironi, Alessandra, Fontana, Laura, Finelli, Palma, Gervasini, Cristina, Pecile, Vanna, Larizza, Lidia
Publicado no Int J Mol Sci (2018)

A role for repressive complexes and H3K9 di-methylation in PRDM5-associated brittle cornea syndrome

Por Porter, Louise F., Galli, Giorgio G., Williamson, Sally, Selley, Julian, Knight, David, Elcioglu, Nursel, Aydin, Ali, Elcioglu, Mustafa, Venselaar, Hanka, Lund, Anders H., Bonshek, Richard, Black, Graeme C., Manson, Forbes D.
Publicado no Hum Mol Genet (2015)

Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral Anomalies

Por Di Gioia, Silvio Alessandro, Shaaban, Sherin, Tüysüz, Beyhan, Elcioglu, Nursel H., Chan, Wai-Man, Robson, Caroline D., Ecklund, Kirsten, Gilette, Nicole M., Hamzaoglu, Azmi, Tayfun, Gulsen Akay, Traboulsi, Elias I., Engle, Elizabeth C.
Publicado no Am J Hum Genet (2018)

Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability

Por McSherry, Megan, Masih, Katherine E., Elcioglu, Nursel H., Celik, Pelin, Balci, Ozge, Cengiz, Filiz Basak, Nunez, Daniella, Sineni, Claire J., Seyhan, Serhat, Kocaoglu, Defne, Guo, Shengru, Duman, Duygu, Bademci, Guney, Tekin, Mustafa
Publicado no PLoS One (2018)

Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome

Por Atik, Tahir, Koparir, Asuman, Bademci, Guney, Foster, Joseph, Altunoglu, Umut, Mutlu, Gül Yesiltepe, Bowdin, Sarah, Elcioglu, Nursel, Tayfun, Gulsen A., Atik, Sevinc Sahin, Ozen, Mustafa, Ozkinay, Ferda, Alanay, Yasemin, Kayserili, Hulya, Thiel, Steffen, Tekin, Mustafa
Publicado no Orphanet J Rare Dis (2015)

Novel <it>C16orf57 </it>mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations

Por Colombo Elisa A, Bazan J Fernando, Negri Gloria, Gervasini Cristina, Elcioglu Nursel H, Yucelten Deniz, Altunay Ilknur, Cetincelik Umram, Teti Anna, Del Fattore Andrea, Luciani Matteo, Sullivan Spencer K, Yan Albert C, Volpi Ludovica, Larizza Lidia
Publicado em 2012-01-01

Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations

Por Colombo, Elisa A, Bazan, J Fernando, Negri, Gloria, Gervasini, Cristina, Elcioglu, Nursel H, Yucelten, Deniz, Altunay, Ilknur, Cetincelik, Umram, Teti, Anna, Del Fattore, Andrea, Luciani, Matteo, Sullivan, Spencer K, Yan, Albert C, Volpi, Ludovica, Larizza, Lidia
Publicado em 2012

Mutations in FKBP10 Cause Recessive Osteogenesis Imperfecta and Bruck Syndrome

Por Kelley, Brian P, Malfait, Fransiska, Bonafe, Luisa, Baldridge, Dustin, Homan, Erica, Symoens, Sofie, Willaert, Andy, Elcioglu, Nursel, Van Maldergem, Lionel, Verellen-Dumoulin, Christine, Gillerot, Yves, Napierala, Dobrawa, Krakow, Deborah, Beighton, Peter, Superti-Furga, Andrea, De Paepe, Anne, Lee, Brendan
Publicado em 2011

Whole Exome Sequencing Identifies Three Novel Mutations in ANTXR1 in Families with GAPO Syndrome

Por Bayram, Yavuz, Pehlivan, Davut, Karaca, Ender, Gambin, Tomasz, Jhangiani, Shalini N., Erdin, Serkan, Gonzaga-Jauregui, Claudia, Wiszniewski, Wojciech, Muzny, Donna, Elcioglu, Nursel H., Yildirim, M. Selman, Bozkurt, Banu, Zamani, Ayse Gul, Boerwinkle, Eric, Gibbs, Richard A., Lupski, James R.
Publicado no Am J Med Genet A (2014)

Novel EYA1 Variants Causing Branchio-Oto-Renal Syndrome

Por Klingbeil, Kyle D., Greenland, Christopher M., Arslan, Selcuk, Paneque, Arianne Llamos, Gurkan, Hakan, Ulusal, Selma Demir, Maroofian, Reza, Carrera-Gonzalez, Andrea, Montufar-Armendariz, Stefany, Paredes, Rosario, Elcioglu, Nursel, Menendez, Ibis, Behnam, Mahdiyeh, Foster, Joseph, Guo, Shengru, Escarfuller, Sebastian, Cengiz, Filiz Basak, Duman, Duygu, Bademci, Guney, Tekin, Mustafa
Publicado no Int J Pediatr Otorhinolaryngol (2017)

Mutations in Multidomain Protein MEGF8 Identify a Carpenter Syndrome Subtype Associated with Defective Lateralization

Por Twigg, Stephen R.F., Lloyd, Deborah, Jenkins, Dagan, Elçioglu, Nursel E., Cooper, Christopher D.O., Al-Sannaa, Nouriya, Annagür, Ali, Gillessen-Kaesbach, Gabriele, Hüning, Irina, Knight, Samantha J.L., Goodship, Judith A., Keavney, Bernard D., Beales, Philip L., Gileadi, Opher, McGowan, Simon J., Wilkie, Andrew O.M.
Publicado em 2012

REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis

Por Bayram, Yavuz, White, Janson J., Elcioglu, Nursel, Cho, Megan T., Zadeh, Neda, Gedikbasi, Asuman, Palanduz, Sukru, Ozturk, Sukru, Cefle, Kivanc, Kasapcopur, Ozgur, Coban Akdemir, Zeynep, Pehlivan, Davut, Begtrup, Amber, Carvalho, Claudia M.B., Paine, Ingrid Sophie, Mentes, Ali, Bektas-Kayhan, Kivanc, Karaca, Ender, Jhangiani, Shalini N., Muzny, Donna M., Gibbs, Richard A., Lupski, James R.
Publicado no Am J Hum Genet (2017)

LRP4 Mutations Alter Wnt/β-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome

Por Li, Yun, Pawlik, Barbara, Elcioglu, Nursel, Aglan, Mona, Kayserili, Hülya, Yigit, Gökhan, Percin, Ferda, Goodman, Frances, Nürnberg, Gudrun, Cenani, Asim, Urquhart, Jill, Chung, Boi-Dinh, Ismail, Samira, Amr, Khalda, Aslanger, Ayca D., Becker, Christian, Netzer, Christian, Scambler, Pete, Eyaid, Wafaa, Hamamy, Hanan, Clayton-Smith, Jill, Hennekam, Raoul, Nürnberg, Peter, Herz, Joachim, Temtamy, Samia A., Wollnik, Bernd
Publicado em 2010