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Wyeld, Theodor and Zankl, Andreas (2008). 3D visualisation of the radiological features of type II collagenopathies associated with skeletal dysplasias. In: Medivis 2008: Fifth International Conference Biomedical Visualization - Information Visualization in Medical and Biomedical Informatics, Proceedings. 5th International Conference on BioMedical Visualization, London, England, (53-56). 9-11 July 2008. doi:10.1109/MediVis.2008.19 40   0 Cited 0 times in Scopus0 0
Zankl, Andreas and Molinari, Luciano (2003) ABase: A tool for the rapid assessment of anthropometric measurements on handheld computers. American Journal of Medical Genetics Part A, 121A 2: 146-150. doi:10.1002/ajmg.a.20185 189   17 Cited 17 times in Scopus17 0
Zankl, A, Addor, MC, Maeder-Ingvar, M and Schorderet, DF (2001) A characteristic EEG pattern in 4p-syndrome: case report and review of the literature. European Journal of Pediatrics, 160 2: 123-127. doi:10.1007/s004310000679 36   15 Cited 19 times in Scopus19 0
Kloeckener-Gruissem, Barbara, Betts, David R., Zankl, Andreas, Berger, Wolfgang and Güngör, Tayfun (2005) A new and a reclassified ICF patient without mutations in DNMT3B and its interacting proteins SUMO-1 and UBC9. American Journal of Medical Genetics Part A, 136 1: 31-37. doi:10.1002/ajmg.a.30767 34   10 Cited 10 times in Scopus10 0
Ulrich, R, Koletzki, D, Zankl, A, Schulz, A, Meisel, H, Kruger, DH, Gelderblom, HR, Dislers, A, Borisova, G and Pumpens, P (1997). A new strategy to generate mosaic HBcAg particles presenting foreign epitopes. In: Vaccines 97 - Molecular Approaches to the Control of Infectious Diseases. 14th Annual Meeting on Modern Approaches to the Control of Infectious Diseases, Cold Spring Harbor Ny, (235-240). Sep 09-13, 1996. 32   3
Temtamy, S. A., Ismail, S., Aglan, M. S., Ashour, A. M., Hosny, L. A., El-Badry, T. H., Aboul-Ezz, E. H. A., Amr, K., Fateen, E., Maguire, T., Ungerer, K. and Zankl, A. (2012) A report of three patients with MMP2 associated hereditary osteolysis. Genetic Counseling, 23 2: 175-184. 26   4 Cited 3 times in Scopus3
Zankl, Andreas, Rampa, Antonio and Schinzel, Albert (2004) Brachmann-de Lange syndrome (BDLS) with asymmetry and skin pigmentary anomalies: A result of mosaicism for a putative BDLS gene mutation?. American Journal of Medical Genetics Part A, 118 4: 358-361. doi:10.1002/ajmg.a.20069 62   3 Cited 3 times in Scopus3 0
Rice, Gillian, Patrick, Teresa, Parmar, Rekha, Taylor, Claire F., Aeby, Alec, Aicardi, Jean, Artuch, Rafael, Montalto, Simon Attard, Bacino, Carlos A., Barroso, Bruno, Baxter, Peter, Benko, William S., Bergmann, Carsten, Bertini, Enrico, Biancheri, Roberta, Blair, Edward M., Blau, Nenad, Bonthron, David T., Briggs, Tracy, Brueton, Louise A., Brunner, Han G., Burke, Christopher J., Carr, Ian M., Carvalho, Daniel R., Chandler, Kate E., Christen, Hans-Jurgen, Corry, Peter C., Cowan, Frances M., Cox, Helen, D'Arrigo, Stefano, Dean, John, De Laet, Corinne, De Praeter, Claudine, Dery, Catherine, Ferrie, Colin D., Flintoff, Kim, Frints, Suzanna G. M., Garcia-Cazorla, Angels, Gener, Blanca, Goizet, Cyril, Goutieres, Francoise, Green, Andrew J., Guet, Agnes, Hamel, Ben C. J., Hayward, Bruce E., Heiberg, Arvid, Hennekam, Raoul C., Husson, Marie, Jackson, Andrew P., Jayatunga, Rasieka, Jiang, Yong-Hui, Kant, Sarina G., Kao, Amy, King, Mary D., Kingston, Helen M., Klepper, Joerg, van der Knaap, Mario S., Kornberg, Andrew J., Kotzot, Dieter, Kratzer, Wilfried, Lacombe, Didier, Lagae, Lieven, Landrieu, Pierre Georges, Lanzi, Giovanni, Leitch, Andrea, Lim, Ming J., Livingston, John H., Lourenco, Charles M., Lyall, E. G. Hermione, Lynch, Sally A., Lyons, Michael J., Marom, Daphna, McClure, John P., McWilliam, Robert, Melancon, Serge B., Mewasingh, Leena D., Moutard, Marie-Laure, Nischal, Ken K., Ostergaard, John R., Prendiville, Julie, Rasmussen, Magnhild, Rogers, R. Curtis, Roland, Dominique, Rosser, Elisabeth M., Rostasy, Kevin, Roubertie, Agathe, Sanchis, Amparo, Schiffmann, Rafael, Scholl-Burgi, Sabine, Seal, Sunita, Shalev, Stavit A., Corcoles, C. Sierra, Sinha, Gyan P., Soler, Doriette, Spiegel, Ronen, Stephenson, John B. P., Tacke, Uta, Tan, Tiong Yang, Till, Marianne, Tolmie, John L., Tomlin, Pam, Vagnarelli, Federica, Valente, Enza Maria, Van Coster, Rudy N. A., Van der Aa, Nathalie, Vanderver, Adeline, Vles, Johannes S. H., Voit, Thomas, Wassmer, Evangeline, Weschke, Bernhard, Whiteford, Margo L., Willemsen, Michael A. A., Zankl, Andreas, Zuberi, Sameer M., Orcesi, Simona, Fazzi, Elisa, Lebon, Pierre and Crow, Yanick J. (2007) Clinical and molecular phenotype of Aicardi-Goutieres syndrome. American Journal of Human Genetics, 81 4: 713-725. doi:10.1086/521373 226   130 Cited 127 times in Scopus127 0
Zankl, A, Addor, MC, Gaide, AC, Thonney, F, Cousin, P, Schorderet, DF, Gudinchet, F and Nenadov-Beck, M (2000) Complex chromosome rearrangement in a girl with an incomplete form of Beckwith-Wiedemann syndrome. American Journal of Medical Genetics, 95 5: 510-512. doi:10.1002/1096-8628(20001218)95:5<510::AID-AJMG18>3.0.CO;2-V 28   0 0
Zankl, Andreas (2004) Computer-aided anthropometry in the evaluation of dysmorphic children. Pediatrics, 114 3: e333-e336. doi:10.1542/peds.2004-0045 54   0 Cited 1 times in Scopus1 0
Zankl, Andreas, Güngör, Tayfun and Schinzel, Albert (2003) Cranio-cerebello-cardiac (3C) syndrome: Follow-up study of the original patient. American Journal of Medical Genetics Part A, 118 1: 55-59. doi:10.1002/ajmg.a.10233 56   5 Cited 6 times in Scopus6 0
Razan, Paul, Groza, Tudor, Hunter, Jane and Zankl, Andreas (2012) Decision support methods for finding phenotype - disorder associations in the bone dysplasia domain. PLoS One, 7 11: e50614.1-e50614.10. doi:10.1371/journal.pone.0050614 40   2 Cited 1 times in Scopus1 1
Groza, Tudor, Hunter, Jane and Zankl, Andreas (2013) Decomposing phenotype descriptions for the human skeletal phenome. Biomedical Informatics Insights, 6 1-14. doi:10.4137/BII.S10729 28 1 2
Halbritter, Jan, Bizet, Albane A., Schmidts, Miriam, Porath, Jonathan D., Braun, Daniela A., Gee, Heon Yung, McInerney-Leo, Aideen M., Krug, Pauline, Filhol, Emilie, Davis, Erica E., Airik, Rannar, Czarnecki, Peter G., Lehman, Anna M., Trnka, Peter, Nitschke, Patrick, Bole-Feysot, Christine, Schueler, Markus, Knebelmann, Bertrand, Burtey, Stephane, Szabo, Attila J., Tory, Kalman, Leo, Paul J., Gardiner, Brooke, McKenzie, Fiona A., Zankl, Andreas, Brown, Matthew A., Hartley, Jane L., Maher, Eamonn R., Li, Chunmei, Leroux, Michel R., Scambler, Peter J., Zhan, Shing H., Jones, Steven J., Kayserili, Hulya, Tuysuz, Beyhan, Moorani, Khemchand N., Constantinescu, Alexandru, Krantz, Ian D., Kaplan, Bernard S., Shah, Jagesh V., Hurd, Toby W., Doherty, Dan, Katsanis, Nicholas, Duncan, Emma L., Otto, Edgar A., Beales, Philip L., Mitchison, Hannah M., Saunier, Sophie and Hildebrandt, Friedhelm (2013) Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans. American Journal of Human Genetics, 93 5: 915-925. doi:10.1016/j.ajhg.2013.09.012 34   9 Cited 9 times in Scopus9 3
Zankl, A, Addor, MC and Schorderet, DF (1999). De novo t(3;4)(q21;q31) translocation in an infant with spinal muscular atrophy type I (Werdnig-Hoffmann disease) and no deletion of SMN1.. In: American Journal of Human Genetics. , , (A349-A349). . 16   0
Ireland, Penelope Jane, Johnson, Sarah, Donaghey, Samantha, Johnston, Leanne, McGill, James, Zankl, Andreas, Ware, Robert S., Pacey, Verity, Ault, Jenny, Savarirayan, Ravi, Sillence, David, Thompson, Elizabeth and Townshend, Sharron (2010) Developmental milestones in infants and young Australasian children with achondroplasia. Journal of Developmental and Behavioral Pediatrics, 31 1: 41-47. doi:10.1097/DBP.0b013e3181c72052 367   7 Cited 8 times in Scopus8 0
Ireland, Penelope J., Donaghey, Samantha, McGill, James, Zankl, Andreas, Ware, Robert S., Pacey, Verity, Ault, Jenny, Savarirayan, Ravi, Sillence, David, Thompson, Elizabeth, Townshend, Sharron and Johnston, Leanne M. (2012) Development in children with achondroplasia: a prospective clinical cohort study. Developmental Medicine and Child Neurology, 54 6: 532-537. doi:10.1111/j.1469-8749.2012.04234.x 89   1 Cited 1 times in Scopus1 0
Zankl, Andreas, Neumann, Luitgard, Ignatius, Jaako, Nikkels, Peter, Schrander-Stumpel, Connie, Mortier, Geert, Omran, Heymut, Wright, Michael, Hilbert, Katja, Bonafe, Luisa, Spranger, Juergen, Zabel, Bernhard and Superti-Furga, Andrea (2005) Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies. American Journal of Medical Genetics Part A, 133A 1: 61-67. doi:10.1002/ajmg.a.30531 107   21 Cited 24 times in Scopus24 0
Zankl, Andreas, Scheffer, H. and Schinzel, Albert (2004) Ectodermal dysplasia with tetramelic deficiencies and no mutation in p63: Odontotrichomelic syndrome or a new entity?. American Journal of Medical Genetics Part A, 127A 1: 74-80. doi:10.1002/ajmg.a.20646 63   0 Cited 1 times in Scopus1 0
Bonafe, Luisa, Dermitzakis, Emmanouil T., Unger, Sheila, Greenberg, Cheryl R., Campos-Xavier, Belinda A., Zankl, Andreas, Ucla, Catherine, Antonarakis, Stylianos E., Superti-Furga, Andrea and Reymond, Alexandre (2005) Evolutionary comparison provides evidence for pathogenicity of RMRP mutations. PLoS Genetics, 1 4: e47-1-e47-11. doi:10.1371/journal.pgen.0010047 52   30 Cited 25 times in Scopus25 0
Travaglini, Lorena, Brancati, Francesco, Anttie-Bitach, Tania, Audollent, Sophie, Bertini, Enrico, Kaplan, Josseline, Perrault, Isabelle, Iannicelli, Miriam, Mancuso, Brunella, Rigoli, Luciana, Rozet, Jean-Michel, Swistun, Dominika, Tolentino, Jerlyn, Zankl, A., Dallapiccola, Bruno, Gleeson, Joseph G. and Valente, Enza Maria (2009) Expanding CEP290 mutational spectrum in ciliopathies. American Journal of Medical Genetics, 149A 10: 2173-2180. doi:10.1002/ajmg.a.33025 80   13 Cited 16 times in Scopus16 0
Tudor Groza, Andreas Zankl and Jane Hunter (2012). Experiences with modeling composite phenotypes in the SKELETOME project. In: Philippe Cudré-Mauroux, Jeff Heflin, Evren Sirin, Tania Tudorache, Jérôme Euzenat, Josiane Xavier Parreira, Jim Hendler, Guus Schreiber, Abraham Bernstein and Eva Blomqvist, The Semantic Web - ISWC 2012: 11th International SemanticWeb Conference proceedings, part II. 11th International Semantic Web Conference (ISWC 2012), Boston, MA, USA, (82-97). 11-15 November 2012. doi:10.1007/978-3-642-35173-0-6 64 9 Cited 0 times in Scopus0 0
Zankl, A, Addor, MC, Cousin, P, Gaide, AC, Gudinchet, F and Schorderet, DF (2001) Fatal outcome in a female monozygotic twin with X-linked hypohydrotic ectodermal dysplasia (XLHED) due to a de novo t(X;9) translocation with probable disruption of the EDA gene. European Journal of Pediatrics, 160 5: 296-299. doi:10.1007/s004310100738 20   9 Cited 12 times in Scopus12 0
Ireland, Penelope Jane, Mcgill, James, Zankl, Andreas, Ware, Robert S., Pacey, Verity, Ault, Jenny, Savarirayan, Ravi, Sillence, David, Thompson, Elizabeth M., Townshend, Sharron and Johnston, Leanne Marie (2011) Functional performance in young Australian children with achondroplasia. Developmental Medicine and Child Neurology, 53 10: 944-950. doi:10.1111/j.1469-8749.2011.04050.x 78 1 4 Cited 5 times in Scopus5 0
Oetting, William S., Robinson, Peter N., Greenblatt, Marc S., Cotton, Richard G., Beck, Tim, Carey, John C., Doelken, Sandra C., Girdea, Marta, Groza, Tudor, Hamilton, Carol M., Hamosh, Ada, Kerner, Berit, MacArthur, Jacqueline A. L., Maglott, Donna R., Mons, Barend, Rehm, Heidi L., Schofield, Paul N., Searle, Beverly A., Smedley, Damian, Smith, Cynthia L., Bernstein, Inge Thomsen, Zankl, Andreas and Zhao, Eric Y. (2013) Getting ready for the Human Phenome Project: the 2012 forum of the Human Variome Project. Human Mutation, 34 4: 661-666. doi:10.1002/humu.22293 40   6 Cited 4 times in Scopus4 3
Zankl, A, Eberle, L, Molinari, L and Schinzel, A (2002) Growth charts for nose length, nasal protrusion, and philtrum length from birth to 97 years. American Journal of Medical Genetics, 111 4: 388-391. doi:10.1002/ajmg.10472 87   30 Cited 30 times in Scopus30 1
Simon-Bouy, Brigitte, Taillandier, Agnès, Fauvert, Delphine, Brun-Heath, Isabelle and Zankl, Andreas (2008) Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling. Prenatal Diagnosis, 28 11: 993-998. doi:10.1002/pd.2088 41   5 Cited 5 times in Scopus5 0
Riyat, S. K., McCarthy, C., Wilson, E., Nandini, A. and Zankl, A. (2007). Interstitial deletion of distal 8p in a patient with velo-cardio-facial syndrome like phenotype. In: 6th European Cytogenetics Conference, Istanbul, Turkey, (35-35). 7-10 July 2007. 30   0
Lemke, Johannes R., Beck-Wödl, Stefanie, Zankl, Andreas, Riegel, Mariluce, Krämer, Günter and Dorn, Thomas (2009) Juvenile myoclonic epilepsy with photosensitivity in a female with Velocardiofacial syndrome (del(22)(q11.2)): Causal relationship or coincidence?. Seizure, 18 9: 660-663. doi:10.1016/j.seizure.2009.07.008 77   4 Cited 5 times in Scopus5 0
Loo, C., Zankl, A., Pereira, T. and Ramm, G. (2011). Liver and pancreatic lesions in a case of short-rib polydactyly type 3. In: 10th Biennal Meeting of the International Skeletal Dysplasia Society, Palm Cove, Cairns, Australia, (). 23-26 June 2011. 29  
Ireland, Penelope J., Johnson, Sarah, Donaghey, Samantha, Johnston, Leanne, Ware, Robert S., Zankl, Andreas, Pacey, Verity, Ault, Jenny, Savarirayan, Ravi, Sillence, David, Thompson, Elizabeth, Townshend, Sharron and McGill, James (2012) Medical management of children with achondroplasia: evaluation of an Australasian cohort aged 0-5 years. Journal of Paediatrics And Child Health, 48 5: 443-449. doi:10.1111/j.1440-1754.2011.02255.x 120 2 2 Cited 4 times in Scopus4 0
Groza, Tudor, Hunter, Jane and Zankl, Andreas (2013) Mining skeletal phenotype descriptions from scientific literature. PLoS One, 8 2: e55656.1-e55656.8. doi:10.1371/journal.pone.0055656 35   2 Cited 1 times in Scopus1 10
Koletzki, D, Zankl, A, Gelderblom, HR, Meisel, H, Dislers, A, Borisova, G, Pumpens, P, Kruger, DH and Ulrich, R (1997) Mosaic hepatitis B virus core particles allow insertion of extended foreign protein segments. Journal of General Virology, 78 2049-2053. 14   18
Andreas Zankl, Duncan, Emma L., Leo, Paul J., Clark, Graeme R., Glazov, Evgeny A., Addor, Marie-Claude, Herlin, Troels, Kim, Chong Ae, Leheup, Bruno P., McGill, Jim, McTaggart, Steven, Mittas, Stephan, Mitche, Anna L., Mortier, Geert R., Robertson, Stephen P., Schroeder, Marie, Terha, Paulien and Brown, Matthew A. (2012) Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB. American Journal of Human Genetics, 90 3: 494-501. doi:10.1016/j.ajhg.2012.01.003 127 11 16 Cited 16 times in Scopus16 5
Terhal, Paulien A., van Dommelen, Paula, Le Merrer, Martine, Zankl, Andreas, Simon, Marleen E. H., Smithson, Sarah F., Marcelis, Carlo, Kerr, Bronwyn, Kinning, Esther, Mansour, Sahar, Hennekam, Raoul C. M., van der Hout, Annemarie H., Cormier-Daire, Valerie, Lund, Allan M., Goodwin, Linda, Megarbane, Andre, Lees, Melissa, Betz, Regina C., Tobias, Edward S., Coucke, Paul and Mortier, Geert R. (2012) Mutation-based growth charts for SEDC and other COL2A1 related dysplasias. American Journal of Medical Genetics Part C-Seminars in Medical Genetics, 160C 3: 205-216. doi:10.1002/ajmg.c.31332 54   2 Cited 3 times in Scopus3 0
Douglas, Jenny, Cilliers, Deirdre, Coleman, Kim, Tatton-Brown, Katrina, Barker, Karen, Bernhard, Brigitte, Burn, John, Huson, Susan, Josifova, Dragana, Lacombe, Didier, Malik, Mohsin, Mansour, Sahar, Reid, Evan, Cormier-Daire, Valerie, Cole,Trevor, The Childhood Overgrowth Collaboration, Rahman, Nazeen and Zankl, A. (2007) Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth. Nature Genetics, 39 8: 963-965. doi:10.1038/ng2083 58   27 Cited 30 times in Scopus30 1
Schmidts, Miriam, Vodopiutz, Julia, Christou-Savina, Sonia, Cortés, Claudio R., McInerney-Leo, Aideen M., Emes, Richard D., Arts, Heleen H., Tüysüz, Beyhan, D'Silva, Jason, Leo, Paul J., Giles, Tom C., Oud, Machteld M., Harris, Jessica A., Koopmans, Marije, Marshall, Mhairi, Elçioglu, Nursel, Kuechler, Alma, Bockenhauer, Detlef, Moore, Anthony T., Wilson, Louise C., Janecke, Andreas R., Hurles, Matthew E., Emmet, Warren, Gardiner, Brooke, Streubel, Berthold, Dopita, Belinda, Zankl, Andreas, Kayserili, Hülya, Scambler, Peter J., Brown, Matthew A., Beales, Philip L., Wicking, Carol, UK10K, Duncan, Emma L. and Mitchison, Hannah M. (2013) Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. American Journal of Human Genetics, 93 5: 932-944. doi:10.1016/j.ajhg.2013.10.003 51 1 6 Cited 6 times in Scopus6 2
Zankl, Andreas, Brooks, Daniela, Boltshauser, Eugen, Largo, Remo and Schinzel, Albert (2004) Natural history of twin disruption sequence. American Journal of Medical Genetics Part A, 127A 2: 133-138. doi:10.1002/ajmg.a.20680 30   3 Cited 5 times in Scopus5 0
Ulrich, R, Koletzki, D, Lachmann, S, Lundkvist, A, Zankl, A, Kazaks, A, Kurth, A, Gelderblom, HR, Borisova, G, Meisel, H and Kruger, DH (1999). New chimaeric hepatitis B virus core particles carrying hantavirus (serotype Puumala) epitopes: immunogenicity and protection against virus challenge. In: Journal of Biotechnology. Conference on New Approaches in Vaccine Development 1997 (NAVD 97), Vienna Austria, (141-153). 1997. doi:10.1016/S0168-1656(99)00117-0 20   25 Cited 29 times in Scopus29 0
Lazarus, S., Zankl, A. and Duncan, E. L. (2013) Next-generation sequencing: a frameshift in skeletal dysplasia gene discovery. Osteoporosis International, 25 2: 407-422. doi:10.1007/s00198-013-2443-1 28   0 Cited 1 times in Scopus1 0
McInerney-Leo, A., Zankl, A., Duncan, E., Clark, G., Leo, P., Glasov, E. and Brown, M. (2012). Next generation sequencing identifies mutations clustering in the amino-terminal transcriptional activation domain of Mafb in multicentric carpotarsal osteolysis. In: Australian Rheumatology Association in conjunction with Rheumatology Health Professionals 53rd Annual Scientific Meeting Conference Abstracts. Australian Rheumatology Association in conjunction with Rheumatology Health Professionals 53rd Annual Scientific Meeting, Canberra, Australia, (2-2). 12-15 May 2012. doi:10.1111/j.1445-5994.2012.02759.x 45   0 1
Superti-Furga, Andrea, Unger, Sheila, Nosology Group of the International Skeletal Dysplasia Society and Zankl, Andreas (2007) Nosology and classification of genetic skeletal disorders: 2006 revision. American Journal of Medical Genetics Part A, 143 1: 1-18. doi:10.1002/ajmg.a.31483 206   Cited 197 times in Scopus197 0
Zankl, Andreas, Jaeger, Gudrun, Bonafé, Luisa, Boltshauser, Eugen and Superti-Furga, Andrea (2004) Novel mutation in the tyrosine kinase domain of FGFR2 in a patient with Pfeiffer syndrome. American Journal of Medical Genetics Part A, 131A 3: 299-300. doi:10.1002/ajmg.a.30366 32   11 Cited 11 times in Scopus11 1
Iannicelli, Miriam, Brancati, Francesco, Mougou-Zerelli, Soumaya, Mazzotta, Annalisa, Thomas, Sophie, Elkhartoufi, Nadia, Travaglini, Lorena, Gomes, Céline, Ardissino, Gian Luigi, Bertini, Enrico, Boltshauser, Eugen, Castorina, Pierangela, D’Arrigo, Stefano, Fischetto, Rita, Leroy, Brigitte, Loget, Philippe, Bonnière, Maryse, Starck, Lena, Tantau, Julia, Gentilin, Barbara, Majore, Silvia, Swistun, Dominika, Flori, Elizabeth, Lalatta, Faustina, Pantaleoni, Chiara, Penzien, Johannes, Grammatico, Paola, The International JSRD Study Group, Gleeson, Joseph G., Dallapiccola, Bruno, Attie-Bitach, Tania, Valente, Enza Maria and Zankl, Andreas (2010) Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. Human Mutation, 31 5: E1319-E1331. doi:10.1002/humu.21239 113   12 Cited 16 times in Scopus16 0
Ha-Vinh, Russia, Alanay, Yasemin, Bank, Ruud A., Campos-Xavier, Ana Belinda, Zankl, Andreas, Superti-Furga, Andrea and Bonafé, Luisa (2004) Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2. American Journal of Medical Genetics Part A, 131 2: 115-120. doi:10.1002/ajmg.a.30231 59   57 Cited 70 times in Scopus70 1
Baynam, Gareth, Walters, Mark, Claes, Peter, Kung, Stefanie, LeSouef, Peter, Dawkins, Hugh, Bellgard, Matthew, Girdea, Marta, Brudno, Michael, Robinson, Peter, Zankl, Andreas, Groza, Tudor, Gillett, David and Goldblatt, Jack (2014) Phenotyping: targeting genotype's rich cousin for diagnosis. Journal of Paediatrics and Child Health, . doi:10.1111/jpc.12705 22 1 0
Ireland, P. J., Johnson, S., Donaghe, S., Johnston, I., Mcgill, J., Zankl, A. and et al (2011). Population-based analysis of development of infants and young Australian children with Achondroplasia. In: 10th Biennal Meeting of the International Skeletal Dysplasia Society, Palm Cove, Cairns, Australia, (). 23-26 June 2011. 58  
Zankl, Andreas, Elakis, George, Susman, Rachel D., Inglis, Garry, Gardener, Glenn, Buckley, Michael F. and Roscioli, Tony (2008) Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation. American Journal of Medical Genetics Part A, 146A 2: 212-218. doi:10.1002/ajmg.a.32085 54   6 Cited 7 times in Scopus7 0
Zankl, Andreas, Jackson, Gail C., Crettol, Laureane Mittaz, Taylor, Jacky, Elles, Rob, Mortier, Geert R., Spranger, Jurgen, Zabel, Bernhard, Unger, Sheila, Le Merrer, Martine, Cormier-Daire, Valerie, Hall, Christine M., Wrigh, Michael J., Bonafe, Luisa, Superti-Furga, Andrea and Briggs, Michael D. (2006) Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia. European Journal of Human Genetics, 15 2: 150-154. doi:10.1038/sj.ejhg.5201744 50   9 Cited 9 times in Scopus9 0
Jackson, Gail C., Mittaz-Crettol, Laureane, Taylor, Jacqueline A., Mortier, Geert R., Spranger, Juergen, Zabel, Bernhard, Le Merrer, Martine, Cormier-Daire, Valerie, Hall, Christine M., Offiah, Amaka, Wright, Michael J., Savarirayan, Ravi, Nishimura, Gen, Ramsden, Simon C., Elles, Rob, Bonafe, Luisa, Superti-Furga, Andrea, Unger, Sheila, Zankl, Andreas and Briggs, Michael D. (2012) Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. Human Mutation, 33 1: 144-157. doi:10.1002/humu.21611 50   22 Cited 23 times in Scopus23 0

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