Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Hansjörg Plendl"'
Autor:
Dieter Schäfer, Kerstin Rhiem, Ricarda Flöttmann, Nicola Dikow, Silke Zachariae, Alfons Meindl, Christine Fischer, Dorothea Gadzicki, Ira Schwaab, Christiana Kartsonaki, Irmgard Debatin, Christoph Engel, Tiemo Grimm, Antonis C. Antoniou, Rita K. Schmutzler, Nasim Mavaddat, Hansjörg Plendl, Nils Rahner, Friedrich Stock, Karoline Kuchenbäcker, Evelin Schröck, Judit Horvath, Brigitte Schlegelberger
Publikováno v:
Journal of Medical Genetics. 50:360-367
Background Risk prediction models are widely used in clinical genetic counselling. Despite their frequent use, the genetic risk models BOADICEA, BRCAPRO, IBIS and extended Claus model (eCLAUS), used to estimate BRCA1/2 mutation carrier probabilities,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e60d304e88cb612f6c3e49ef033d4c8b
https://doi.org/10.1136/jmedgenet-2012-101415
https://doi.org/10.1136/jmedgenet-2012-101415
Autor:
Nils Krone, Hansjörg Plendl, Francois Cachat, Felix G. Riepe, Laurent Schild, Miguel X. van Bemmelen, Ivan Gautschi, Paul-Martin Holterhus, Gérald Theintz
Publikováno v:
Clinical Endocrinology. 70:252-258
Summary Objective Pseudohypoaldosteronism type I (PHA1) is a rare inborn disease causing severe salt loss. Mutations in the three coding genes of the epithelial sodium channel (ENaC) are responsible for the systemic autosomal recessive form. So far,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ada1247377136d325cd0e14032490914
https://doi.org/10.1111/j.1365-2265.2008.03314.x
https://doi.org/10.1111/j.1365-2265.2008.03314.x
Autor:
Katrin Õunap, Simone Metzke-Heidemann, Pille Tammur, Oliver Bartsch, Hansjörg Plendl, Walter Jonat, Regina Grunewald, Almuth Caliebe, Reiner Siebert, Jörg Weimer, Norbert Arnold
Publikováno v:
American Journal of Medical Genetics Part A. :488-495
A boy with signs of Klinefelter syndrome, mild facial dysmorphic features, and severely retarded speech development displayed a female karyotype with mosaicism for two marker chromosomes 48,XX,+mar1,+mar2[68]/47,XX,+mar1[19]/47,XX,+mar2[6]/46,XX[8].
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::825482cea3df6bb5fbe64b2059f8539c
https://doi.org/10.1002/ajmg.a.31104
https://doi.org/10.1002/ajmg.a.31104
Publikováno v:
Hämostaseologie. 22:76-81
ZusammenfassungIm letzten Schritt der Blutgerinnung lagern sich Fibrinmonomere aneinander und werden durch Faktor XIIIa kovalent verbunden. Mutationen in einem der drei Gene, die für die Fibrinogenpeptide kodieren, können diesen Prozess stören und
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::705e99d9926318af28d22a7fe9f1a423
https://doi.org/10.1055/s-0037-1619535
https://doi.org/10.1055/s-0037-1619535
Autor:
Werner Grote, S Gesk, Almuth Caliebe, Inga Vater, J. R Exeler-Telker, Simone Heidemann, Hansjörg Plendl, Reiner Siebert
Publikováno v:
Prenatal Diagnosis. 30:183-185
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4fc428c8165c925ae7fc73a163a97051
https://doi.org/10.1002/pd.2436
https://doi.org/10.1002/pd.2436
Autor:
Barbara Thamm-Mücke, Sabine Purmann, Alessandra Baumer, Heyko Skladny, Cornelia Kraus, Peter M. Kroisel, Gabriele Sander, Lothar Kochhan, Roland Achmann, Bernd Dworniczak, Stephanie Kleinle, Bernhard Horsthemke, Dieter Gläser, Joachim Burger, Christa Aulehla-Scholz, Ernst Krasemann, Bart Janssen, Eva Spitzer, Elke Holinski-Feder, Helga Weirich, Hansjörg Plendl, Karin Buiting, Christina Lich, Raymonda Varon-Mateeva, Andreas Weinhäusel
Publikováno v:
European Journal of Human Genetics. 11:913-915
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3a8e885e23c1b2d220ed88b72ec8853
https://doi.org/10.1038/sj.ejhg.5201078
https://doi.org/10.1038/sj.ejhg.5201078
Autor:
Ulrich Stephani, Hiltrud Muhle, Reiner Siebert, Martin F. Krause, Stefan Gesk, Hansjörg Plendl, Almuth Caliebe, Ute Jänig, Jose I. Martin Subero, Christel Eckmann-Scholz
Publikováno v:
European journal of medical genetics. 54(5)
Interstitial deletions of chromosome 14 have rarely been described. We report on a boy in whom a 2 Mb deletion in 14q13 was discovered by array CGH. The deletion was a de novo event. The boy presented with asymmetrical growth retardation at birth. Th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3c0e62afbff0c6a45191caa8fceb371
https://pubmed.ncbi.nlm.nih.gov/21736959
https://pubmed.ncbi.nlm.nih.gov/21736959
Autor:
Werner Grote, Hansjörg Plendl, Yanming Zhang, Rolf Kuse, Alfred C. Feller, Brigitte Schlegelberger, Ruth Sonnen
Publikováno v:
Genes, Chromosomes and Cancer. 7:165-168
A clone with an unbalanced translocation t(8;14)(p11;q31), resulting in deletion of the distal part of the long arm of chromosome 14, 14q31 14qter, was detected in a case of Piringer's lymphadenitis. Histopathologically no atypical cells or other sig
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7a2d8815ecea01172a01f2bb896f428
https://doi.org/10.1002/gcc.2870070309
https://doi.org/10.1002/gcc.2870070309
Publikováno v:
Prenatal Diagnosis. 11:427-435
Isoelectric focusing (IEF) of amniotic fluid alpha-fetoprotein (AFP) in thin-layer polyacrylamide gels containing 8 M urea followed by immunoblotting reveals at least nine bands, band I lying next to the cathode. Compared with 298 amniotic fluid samp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c52f2f20aa53cfdfa3cc82c78f025c81
https://doi.org/10.1002/pd.1970110704
https://doi.org/10.1002/pd.1970110704
Autor:
Felix G, Riepe, Miguel X P, van Bemmelen, Francois, Cachat, Hansjörg, Plendl, Ivan, Gautschi, Nils, Krone, Paul-Martin, Holterhus, Gerald, Theintz, Laurent, Schild
Publikováno v:
Clinical endocrinology. 70(2)
Pseudohypoaldosteronism type I (PHA1) is a rare inborn disease causing severe salt loss. Mutations in the three coding genes of the epithelial sodium channel (ENaC) are responsible for the systemic autosomal recessive form. So far, no phenotype has b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3fb31595da4be5f785b0b5f60c603f0e
https://pubmed.ncbi.nlm.nih.gov/18547339
https://pubmed.ncbi.nlm.nih.gov/18547339