Medizinische Universität Graz - Research portal

Go directly to the nagivation.
Go directly to the content.

Navigation/Search

Researchers.
- Curriculum.
- Publications.
- Projects.
- Presentations.
Institutions.
Projects.
Publications.
Partners.
Sponsors.
Equipment.
Knowhow.
Fields of Research.

Rötzer Katharina Magdalena |

Publications

** = Publications listed in SCI/SSCI/Pubmed

2014

Case Report

** Al Kaissi, A; Ganger, R; Rötzer, KM; Klaushofer, K; Grill, F A child with split-hand/foot associated with tibial hemimelia (SHFLD syndrome) and thrombocytopenia maps to chromosome region 17p13.3.
Am J Med Genet A. 2014; 164A(9):2338-2343 Doi: 10.1002/ajmg.a.36614 (- Case Report)
Web of Science PubMed FullText FullText_MUG

2013

Full paper/article (Journal)

** Lionel, AC; Vaags, AK; Sato, D; Gazzellone, MJ; Mitchell, EB; Chen, HY; Costain, G; Walker, S; Egger, G; Thiruvahindrapuram, B; Merico, D; Prasad, A; Anagnostou, E; Fombonne, E; Zwaigenbaum, L; Roberts, W; Szatmari, P; Fernandez, BA; Georgieva, L; Brzustowicz, LM; Roetzer, K; Kaschnitz, W; Vincent, JB; Windpassinger, C; Marshall, CR; Trifiletti, RR; Kirmani, S; Kirov, G; Petek, E; Hodge, JC; Bassett, AS; Scherer, SW Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Hum Mol Genet. 2013; 22(10):2055-2066 Doi: 10.1093/hmg/ddt056 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

2012

Review

** Ţuţulan-Cunită, AC; Papuc, SM; Arghir, A; Rötzer, KM; Deshpande, C; Lungeanu, A; Budişteanu, M 3p interstitial deletion: novel case report and review.
J Child Neurol. 2012; 27(8):1062-1066 Doi: 10.1177/0883073811431016 (- Case Report)
Web of Science PubMed FullText FullText_MUG

2011

Full paper/article (Journal)

** Al Kaissi, A; M Roetzer, K; Ulz, P; Heitzer, E; Klaushofer, K; Grill, F Extra phenotypic features in a girl with Miller syndrome.
Clin Dysmorphol. 2011; 20(2): 66-72. Doi: 10.1097/MCD.0b013e3283416701
Web of Science PubMed FullText FullText_MUG Google Scholar

** Al Kaissi, A; Roetzer, KM; Heitzer, E; Ben Chehida, F; Ben Ghachem, M; Klaushofer, K; Grill, F Facial dysmorphism associated with distinctive spine abnormalities in a girl and her mother: novel syndromic association
CLIN DYSMORPHOL. 2011; 20(4): 182-186. Doi: 10.1097/MCD.0b013e328349bc9b
Web of Science PubMed FullText FullText_MUG

** Jacquemont, S; Reymond, A; Zufferey, F; Harewood, L; Walters, RG; Kutalik, Z; Martinet, D; Shen, Y; Valsesia, A; Beckmann, ND; Thorleifsson, G; Belfiore, M; Bouquillon, S; Campion, D; de Leeuw, N; de Vries, BB; Esko, T; Fernandez, BA; Fernández-Aranda, F; Fernández-Real, JM; Gratacòs, M; Guilmatre, A; Hoyer, J; Jarvelin, MR; Kooy, RF; Kurg, A; Le Caignec, C; Männik, K; Platt, OS; Sanlaville, D; Van Haelst, MM; Villatoro Gomez, S; Walha, F; Wu, BL; Yu, Y; Aboura, A; Addor, MC; Alembik, Y; Antonarakis, SE; Arveiler, B; Barth, M; Bednarek, N; Béna, F; Bergmann, S; Beri, M; Bernardini, L; Blaumeiser, B; Bonneau, D; Bottani, A; Boute, O; Brunner, HG; Cailley, D; Callier, P; Chiesa, J; Chrast, J; Coin, L; Coutton, C; Cuisset, JM; Cuvellier, JC; David, A; de Freminville, B; Delobel, B; Delrue, MA; Demeer, B; Descamps, D; Didelot, G; Dieterich, K; Disciglio, V; Doco-Fenzy, M; Drunat, S; Duban-Bedu, B; Dubourg, C; El-Sayed Moustafa, JS; Elliott, P; Faas, BH; Faivre, L; Faudet, A; Fellmann, F; Ferrarini, A; Fisher, R; Flori, E; Forer, L; Gaillard, D; Gerard, M; Gieger, C; Gimelli, S; Gimelli, G; Grabe, HJ; Guichet, A; Guillin, O; Hartikainen, AL; Heron, D; Hippolyte, L; Holder, M; Homuth, G; Isidor, B; Jaillard, S; Jaros, Z; Jiménez-Murcia, S; Helas, GJ; Jonveaux, P; Kaksonen, S; Keren, B; Kloss-Brandstätter, A; Knoers, NV; Koolen, DA; Kroisel, PM; Kronenberg, F; Labalme, A; Landais, E; Lapi, E; Layet, V; Legallic, S; Leheup, B; Leube, B; Lewis, S; Lucas, J; MacDermot, KD; Magnusson, P; Marshall, C; Mathieu-Dramard, M; McCarthy, MI; Meitinger, T; Mencarelli, MA; Merla, G; Moerman, A; Mooser, V; Morice-Picard, F; Mucciolo, M; Nauck, M; Ndiaye, NC; Nordgren, A; Pasquier, L; Petit, F; Pfundt, R; Plessis, G; Rajcan-Separovic, E; Ramelli, GP; Rauch, A; Ravazzolo, R; Reis, A; Renieri, A; Richart, C; Ried, JS; Rieubland, C; Roberts, W; Roetzer, KM; Rooryck, C; Rossi, M; Saemundsen, E; Satre, V; Schurmann, C; Sigurdsson, E; Stavropoulos, DJ; Stefansson, H; Tengström, C; Thorsteinsdóttir, U; Tinahones, FJ; Touraine, R; Vallée, L; van Binsbergen, E; Van der Aa, N; Vincent-Delorme, C; Visvikis-Siest, S; Vollenweider, P; Völzke, H; Vulto-van Silfhout, AT; Waeber, G; Wallgren-Pettersson, C; Witwicki, RM; Zwolinksi, S; Andrieux, J; Estivill, X; Gusella, JF; Gustafsson, O; Metspalu, A; Scherer, SW; Stefansson, K; Blakemore, AI; Beckmann, JS; Froguel, P Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.
Nature. 2011; 478(7367):97-102 Doi: 10.1038/nature10406 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

2010

Full paper/article (Journal)

** Hofstaetter, JG; Roetzer, KM; Krepler, P; Nawrot-Wawrzyniak, K; Schwarzbraun, T; Klaushofer, K; Roschger, P Altered bone matrix mineralization in a patient with Rett syndrome.
Bone. 2010; 47(3):701-705 Doi: 10.1016/j.bone.2010.06.005 (- Case Report)
Web of Science PubMed FullText FullText_MUG

** Roetzer, KM; Schwarzbraun, T; Obenauf, AC; Hauser, E; Speicher, MR Further evidence for the pathogenicity of 15q24 microduplications distal to the minimal critical regions.
Am J Med Genet A. 2010; 152A(12):3173-3178 Doi: 10.1002/ajmg.a.33750 (- Case Report)
Web of Science PubMed FullText FullText_MUG

2009

Full paper/article (Journal)

** Nawrot-Wawrzyniak, K; Varga, F; Nader, A; Roschger, P; Sieghart, S; Zwettler, E; Roetzer, KM; Lang, S; Weinkamer, R; Klaushofer, K; Fratzl-Zelman, N Effects of tumor-induced osteomalacia on the bone mineralization process.
Calcif Tissue Int. 2009; 84(4): 313-323. Doi: 10.1007/s00223-009-9216-z [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

Abstract (Journal)

** Roetzer, KM; Laccone, F; Krebs, A; Grill, F; Robins, S; Varga, F; Klaushofer, K; Al Kaissi, A Novel mutation in the carboxyl-terminal propeptide of the procollagen alpha 1 (I) chain in a girl with prenatal cortical hyperostosis and multiple fractures
BONE. 2009; 45: S81-S81.-ICCBH5; JUN 23-26, 2009; Cambridge, UK. Doi: 10.1016/j.bone.2009.04.106 [Poster]
Web of Science FullText FullText_MUG

2008

Full paper/article (Journal)

** Al Kaissi, A; Skoumal, M; Roetzer, K; Grill, F; Klaushofer, K A patient with Melorheostosis manifesting with features similar to tricho-dento-osseous syndrome: a case report.
J Med Case Reports. 2008; 2(1): 51-51. Doi: 10.1186/1752-1947-2-51 [OPEN ACCESS]
PubMed FullText FullText_MUG

** Kaissi, AA; Roetzer, K; Klaushofer, K; Grill, F Acroform type of enchondromatosis associated with severe vertebral involvement and facial dysmorphism in a boy with a new variant of enchondromatosis type I1 of Spranger: case report and a review of the literature.
Cases J. 2008; 1(1): 324-324. Doi: 10.1186/1757-1626-1-324 [OPEN ACCESS]
PubMed FullText FullText_MUG

2007

Full paper/article (Journal)

** Al Kaissi, A; Zwettler, E; Roetzer, KM; Haller, J; Varga, F; Klaushofer, K; Grill, F Vertebral hyperostosis, ankylosed vertebral fracture and atlantoaxial rotatory subluxation in an elderly patient with a history of infantile idiopathic scoliosis; a case report.
J Med Case Rep. 2007; 1(2):25-25 Doi: 10.1186/1752-1947-1-25 [OPEN ACCESS]
PubMed FullText FullText_MUG

** Roetzer, KM; Varga, F; Zwettler, E; Nawrot-Wawrzyniak, K; Haller, J; Forster, E; Klaushofer, K Novel PHEX mutation associated with hypophosphatemic rickets
NEPHRON PHYSIOL. 2007; 106(1): 8-12. Doi: 10.1159/000101487 (- Case Report)
Web of Science PubMed FullText FullText_MUG

↑ Top of page / Navigation