Zobrazeno 1 - 10
of 686
pro vyhledávání: '"Rittinger, O"'
Autor:
Glueckert, Rudolf, RaskAndersen, Helge, Sergi, Consolato, Schmutzhard, Joachim, Mueller, Bert, Beckmann, Felix, Rittinger, Olaf, Hoefsloot, Lies H., SchrottFischer, Anneliese, Janecke, Andreas R.
Publikováno v:
American Journal of Medical Genetics. Part A; March 2010, Vol. 152 Issue: 3 p665-673, 9p
Autor:
Bader, Ingrid, Decker, E., Mayr, J.A., Lunzer, V., Koch, J., Boltshauser, E., Sperl, W., Pietsch, P., Ertl-Wagner, B., Bolz, H., Bergmann, C., Rittinger, O.
Publikováno v:
In European Journal of Medical Genetics August 2016 59(8):386-391
Autor:
Tatton-Brown, K, Loveday, C, Yost, S, Clarke, M, Ramsay, E, Zachariou, A, Elliott, A, Wylie, H, Ardissone, A, Rittinger, O, Stewart, F, Temple, IK, Cole, T, Childhood Overgrowth Collaboration, Mahamdallie, S, Seal, S, Ruark, E, Rahman, N
To explore the genetic architecture of human overgrowth syndromes and human growth control, we performed experimental and bioinformatic analyses of 710 individuals with overgrowth (height and/or head circumference ≥+2 SD) and intellectual disabilit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::70bab1bccc0b5c5af59e7b599483f091
https://openaccess.sgul.ac.uk/id/eprint/109921/1/1-s2.0-S0002929717301155-main.pdf
https://openaccess.sgul.ac.uk/id/eprint/109921/1/1-s2.0-S0002929717301155-main.pdf
Autor:
Douzgou, S, Clayton-Smith, J, Gardner, S, Day, R, Griffiths, P, Strong, K, Amiel, J, Baraitser, M, Brueton, L, Brunner, H, Chrzanowska, K, Dallapiccola, B, Del Campo Casanelles, M, Devriendt, K, Donnai, D, Fitzpatrick, D, Gillessen-Kaesbach, G, Houge, G, Kerr, B, Krajewska-Walasek, M, Lacombe, D, Meinecke, P, Metcalfe, K, Mortier, G, Odent, S, Philip, N, Prescott, T, Raas-Rothschild, A, Rauch, A, Rittinger, O, Salonen, R, Schrander-Stumpel, C, Suri, M, Temple, K, Tolmie, J, Van Der Burgt, I, Verloes, A, Wieczorek, D, Zenker, M
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______885::b70975ee3de4cf152f88d4b14d5b7a2e
https://www.zora.uzh.ch/id/eprint/88190/
https://www.zora.uzh.ch/id/eprint/88190/
Autor:
Falco, F., Cainarca, S., Andolfi, G., Ferrentino, R., Berti, C., Rodríguez Criado, G., Rittinger, O., Dennis, N., Odent, S., Rastogi, A., Liebelt, J., Chitayat, D., Winter, R., Jawanda, H., Ballabio, A., Brunella FRANCO, Meroni, G.
Publikováno v:
Scopus-Elsevier
Opitz (or G/BBB) syndrome is a pleiotropic genetic disorder characterized by hypertelorism, hypospadias, and additional midline defects. This syndrome is heterogeneous with an X-linked (XLOS) and an autosomal dominant (ADOS) form. The gene implicated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::88520b5c5c74d9aaad4448e645652be8
http://hdl.handle.net/11588/143920
http://hdl.handle.net/11588/143920
Autor:
Kalampounias, Georgios1 (AUTHOR) gkalampounias@ac.upatras.gr, Varemmenou, Athina1 (AUTHOR) athina.var97@gmail.com, Aronis, Christos1 (AUTHOR) christos.aronis@medunigraz.at, Mamali, Irene2 (AUTHOR) irenemamali@gmail.com, Shaukat, Athanasios-Nasir3 (AUTHOR) shaukat.ath@gmail.com, Chartoumpekis, Dionysios V.2 (AUTHOR) dchart@upatras.gr, Katsoris, Panagiotis1 (AUTHOR) katsopan@upatras.gr, Michalaki, Marina2 (AUTHOR) mixmar@upatras.gr
Publikováno v:
Cancers. Jul2024, Vol. 16 Issue 14, p2604. 24p.
Autor:
Beatson, Erica L.1 (AUTHOR), Risdon, Emily N.1 (AUTHOR), Napoli, Giulia C.1 (AUTHOR) dkprice@nih.gov, Price, Douglas K.1 (AUTHOR), Chau, Cindy H.1 (AUTHOR), Figg, William D.1 (AUTHOR) figgw@mail.nih.gov
Publikováno v:
International Journal of Molecular Sciences. Jun2024, Vol. 25 Issue 11, p6111. 19p.
Publikováno v:
Klinische Pädiatrie. 203:455-457
This is a report of the neonatal form of nonketotic hyperglycinemia with rapid progressing neurological symptoms, respiratory distress and seizures. The EEG pattern is characteristic, the ratio of cerebrospinal fluid to plasma glycine abnormally high
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ffafb1f955229d6f01b564c99a9ffccb
https://doi.org/10.1055/s-2007-1025473
https://doi.org/10.1055/s-2007-1025473
Autor:
Vlasak I, Nachtigall M, Plöchl E, Kurnik P, Schiebel K, Rappold Ga, Zierler H, Bergendi E, Rittinger O, Stopar M
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 12
Cytogenetic analysis, fluorescent in situ hybridization (FISH) and polymerase chain reaction (PCR) were applied to characterize the Y-chromosomal breakpoints of three XX male patients. Two of these patients show a breakpoint within a protein kinase g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95bfaa2c4c3152206477d251eca7ef2f
https://doi.org/10.1515/jpem.1999.12.3.389
https://doi.org/10.1515/jpem.1999.12.3.389
Autor:
Hung CY; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, United States of America.; Harvard Medical School, Boston, Massachusetts, United States of America., Volkmar B; Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria., Baker JD; Department of Biology, University of Miami, Coral Gables, Florida, United States of America., Bauer JW; Department of Dermatology, EB House Austria, University Hospital of the Paracelsus Medical University Salzburg, Salzburg, Austria., Gussoni E; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, United States of America.; Harvard Medical School, Boston, Massachusetts, United States of America., Hainzl S; Department of Dermatology, EB House Austria, University Hospital of the Paracelsus Medical University Salzburg, Salzburg, Austria., Klausegger A; Department of Dermatology, EB House Austria, University Hospital of the Paracelsus Medical University Salzburg, Salzburg, Austria., Lorenzo J; John P. Hussman Institute for Human Genomics, University of Miami, Miami, Florida, United States of America., Mihalek I; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, United States of America., Rittinger O; Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria., Tekin M; John P. Hussman Institute for Human Genomics, University of Miami, Miami, Florida, United States of America., Dallman JE; Department of Biology, University of Miami, Coral Gables, Florida, United States of America., Bodamer OA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, United States of America.; Harvard Medical School, Boston, Massachusetts, United States of America.
Publikováno v:
PloS one [PLoS One] 2017 Dec 11; Vol. 12 (12), pp. e0189324. Date of Electronic Publication: 2017 Dec 11 (Print Publication: 2017).