Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Britta Fiebig"'
Publikováno v:
Brain Disorders, Vol 2, Iss , Pp 100006- (2021)
Hypomyelinating leukodystrophies are heterogeneous genetic diseases with a wide phenotypic spectrum. Diagnosis and classification are often impaired by unspecific clinical and imaging features. A 16-year-old boy from Syria is described with spastic a
Externí odkaz:
https://doaj.org/article/c82d41237df345758864c96cd1f0c965
Autor:
Jacques Simard, Kenneth Offit, Georgia Chenevix-Trench, Douglas F. Easton, Phuong L. Mai, Mark H. Greene, Paolo Radice, Liliana Varesco, Giuseppe Giannini, Alessandra Viel, Loris Bernard, Monica Barile, Daniela Zaffaroni, Bernard Peissel, Siranoush Manoukian, Paolo Peterlongo, V. Shane Pankratz, Zachary Fredericksen, Noralane M. Lindor, Yuan Chun Ding, Susan L. Neuhausen, Amanda B. Spurdle, Marc D. Tischkowitz, Heli Nevanlinna, Taru A. Muranen, Miguel de la Hoya, Trinidad Caldes, Wolfram Heinritz, Britta Fiebig, Karin Kast, Christian Sutter, Andrea Gehrig, Helmut Deissler, Raymonda Varon-Mateeva, Dorothea Gadzicki, Sabine Preisler-Adams, Dieter Niederacher, Simone Heidemann, Norbert Arnold, Nina Ditsch, Alfons Meindl, Christoph Engel, Barbara Wappenschmidt, Rita K. Schmutzler, Ava Kwong, Orland Diez, Cecelia M. Dorfling, Elizabeth J. van Rensburg, Mary S. Beattie, Patricia A. Ganz, Soo Hwang Teo, Edith Olah, Christine S. Walsh, Beth Y. Karlan, Kunle O. Odunsi, Paul P.D. Pharoah, Simon A. Gayther, Joan Brunet, Lidia Feliubadalo, Ignacio Blanco, Conxi Lazaro, Ramunas Janavicius, Claudine Isaacs, Evgeny N. Imyanitov, Simona Agata, Marco Montagna, Amanda Ewart-Toland, Katie Wakeley, John Boggess, Wendy S. Rubinstein, Jack Basil, Kelly Phillips, Marion Piedmonte, Mark E. Robson, Kara Sarrel, Sohela Shah, Joseph Vijai, Aðalgeir Arason, Finn C. Nielsen, Thomas V.O. Hansen, Anneliese Fink-Retter, Muy-Kheng M. Tea, Christine Rappaport, Christian F. Singer, David E. Goldgar, John L. Hopper, Melissa C. Southey, Alexander Miron, Esther M. John, Wendy K. Chung, MaryBeth Terry, Mary B. Daly, Saundra S. Buys, Carrie L. Snyder, Henry T. Lynch, Linda Akloul, Capucine Delnatte, Isabelle Coupier, Pascal Pujol, Olivier Caron, Brigitte Bressac-de Paillerets, Nadia Boutry-Kryza, Mélanie Léoné, Sylvie Mazoyer, François Cornelis, Laurent Castera, Marion Fassy-Colcombet, Dominique Stoppa-Lyonnet, Andrew K. Godwin, Betsy Bove, Lucy E. Side, M. John Kennedy, Mary E. Porteous, Lisa Walker, Patrick J. Morrison, Shirley V. Hodgson, Fiona Douglas, Carole Brewer, Joan Paterson, Jackie Cook, Trevor Cole, Diana M. Eccles, Rosemarie Davidson, Julian Adlard, Rosalind A. Eeles, Chris Jacobs, D. Gareth Evans, Elena Fineberg, Radka Platte, Steve D. Ellis, Debra Frost, Susan Peock, Margreet G.E.M. Ausems, Rogier A. Oldenburg, Maartje J. Hooning, Marleen Kets, Marinus J. Blok, Juul Wijnen, Hanne E.J. Meijers-Heijboer, Flora E. van Leeuwen, Theo A. van Os, Frans B.L. Hogervorst, Ute Hamann, Javier Benitez, María Isabel Tejada, Mercedes Durán, Ana Osorio, Bohdan Górski, Cezary Cybulski, Jacek Gronwald, Tomasz Byrski, Tomasz Huzarski, Elżbieta Złowocka, Katarzyna Durda, Katarzyna Jaworska, Jan Lubinski, Ania Jakubowska, Susan M. Domchek, Timothy R. Rebbeck, Katherine L. Nathanson, Per Karlsson, Hans Ehrencrona, Maria Soller, Niklas Loman, Gisela Barbany-Bustinza, Anna von Wachenfeldt, Maria A. Caligo, Torben A. Kruse, Anne-Bine Skytte, Uffe Birk Jensen, Anne-Marie Gerdes, Mads Thomassen, Anna Marie Mulligan, Hilmi Ozcelik, Irene L. Andrulis, Olga M. Sinilnikova, Sue Healey, Andrew Lee, Daniel Barrowdale, Lesley McGuffog, Tomas Kirchhoff, Xianshu Wang, Xiaoqing Chen, Jonathan Beesley, Penny Soucy, Karoline B. Kuchenbaecker, Susan J. Ramus, Antonis C. Antoniou, Mia M. Gaudet, Fergus J. Couch
PDF file - 90K
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8f8d06ff43e4caf36f48984c98f91d1
https://doi.org/10.1158/1055-9965.22436115.v1
https://doi.org/10.1158/1055-9965.22436115.v1
Autor:
Jacques Simard, Kenneth Offit, Georgia Chenevix-Trench, Douglas F. Easton, Phuong L. Mai, Mark H. Greene, Paolo Radice, Liliana Varesco, Giuseppe Giannini, Alessandra Viel, Loris Bernard, Monica Barile, Daniela Zaffaroni, Bernard Peissel, Siranoush Manoukian, Paolo Peterlongo, V. Shane Pankratz, Zachary Fredericksen, Noralane M. Lindor, Yuan Chun Ding, Susan L. Neuhausen, Amanda B. Spurdle, Marc D. Tischkowitz, Heli Nevanlinna, Taru A. Muranen, Miguel de la Hoya, Trinidad Caldes, Wolfram Heinritz, Britta Fiebig, Karin Kast, Christian Sutter, Andrea Gehrig, Helmut Deissler, Raymonda Varon-Mateeva, Dorothea Gadzicki, Sabine Preisler-Adams, Dieter Niederacher, Simone Heidemann, Norbert Arnold, Nina Ditsch, Alfons Meindl, Christoph Engel, Barbara Wappenschmidt, Rita K. Schmutzler, Ava Kwong, Orland Diez, Cecelia M. Dorfling, Elizabeth J. van Rensburg, Mary S. Beattie, Patricia A. Ganz, Soo Hwang Teo, Edith Olah, Christine S. Walsh, Beth Y. Karlan, Kunle O. Odunsi, Paul P.D. Pharoah, Simon A. Gayther, Joan Brunet, Lidia Feliubadalo, Ignacio Blanco, Conxi Lazaro, Ramunas Janavicius, Claudine Isaacs, Evgeny N. Imyanitov, Simona Agata, Marco Montagna, Amanda Ewart-Toland, Katie Wakeley, John Boggess, Wendy S. Rubinstein, Jack Basil, Kelly Phillips, Marion Piedmonte, Mark E. Robson, Kara Sarrel, Sohela Shah, Joseph Vijai, Aðalgeir Arason, Finn C. Nielsen, Thomas V.O. Hansen, Anneliese Fink-Retter, Muy-Kheng M. Tea, Christine Rappaport, Christian F. Singer, David E. Goldgar, John L. Hopper, Melissa C. Southey, Alexander Miron, Esther M. John, Wendy K. Chung, MaryBeth Terry, Mary B. Daly, Saundra S. Buys, Carrie L. Snyder, Henry T. Lynch, Linda Akloul, Capucine Delnatte, Isabelle Coupier, Pascal Pujol, Olivier Caron, Brigitte Bressac-de Paillerets, Nadia Boutry-Kryza, Mélanie Léoné, Sylvie Mazoyer, François Cornelis, Laurent Castera, Marion Fassy-Colcombet, Dominique Stoppa-Lyonnet, Andrew K. Godwin, Betsy Bove, Lucy E. Side, M. John Kennedy, Mary E. Porteous, Lisa Walker, Patrick J. Morrison, Shirley V. Hodgson, Fiona Douglas, Carole Brewer, Joan Paterson, Jackie Cook, Trevor Cole, Diana M. Eccles, Rosemarie Davidson, Julian Adlard, Rosalind A. Eeles, Chris Jacobs, D. Gareth Evans, Elena Fineberg, Radka Platte, Steve D. Ellis, Debra Frost, Susan Peock, Margreet G.E.M. Ausems, Rogier A. Oldenburg, Maartje J. Hooning, Marleen Kets, Marinus J. Blok, Juul Wijnen, Hanne E.J. Meijers-Heijboer, Flora E. van Leeuwen, Theo A. van Os, Frans B.L. Hogervorst, Ute Hamann, Javier Benitez, María Isabel Tejada, Mercedes Durán, Ana Osorio, Bohdan Górski, Cezary Cybulski, Jacek Gronwald, Tomasz Byrski, Tomasz Huzarski, Elżbieta Złowocka, Katarzyna Durda, Katarzyna Jaworska, Jan Lubinski, Ania Jakubowska, Susan M. Domchek, Timothy R. Rebbeck, Katherine L. Nathanson, Per Karlsson, Hans Ehrencrona, Maria Soller, Niklas Loman, Gisela Barbany-Bustinza, Anna von Wachenfeldt, Maria A. Caligo, Torben A. Kruse, Anne-Bine Skytte, Uffe Birk Jensen, Anne-Marie Gerdes, Mads Thomassen, Anna Marie Mulligan, Hilmi Ozcelik, Irene L. Andrulis, Olga M. Sinilnikova, Sue Healey, Andrew Lee, Daniel Barrowdale, Lesley McGuffog, Tomas Kirchhoff, Xianshu Wang, Xiaoqing Chen, Jonathan Beesley, Penny Soucy, Karoline B. Kuchenbaecker, Susan J. Ramus, Antonis C. Antoniou, Mia M. Gaudet, Fergus J. Couch
Background: Genome-wide association studies (GWAS) identified variants at 19p13.1 and ZNF365 (10q21.2) as risk factors for breast cancer among BRCA1 and BRCA2 mutation carriers, respectively. We explored associations with ovarian cancer and with brea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e50c0b9f0e302f4bf4a4427c659460d
https://doi.org/10.1158/1055-9965.c.6515235
https://doi.org/10.1158/1055-9965.c.6515235
Publikováno v:
Ultraschall in der Medizin - European Journal of Ultrasound.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::722dea81b4ee3cff197e70d8a3259796
https://doi.org/10.1055/s-0042-1749526
https://doi.org/10.1055/s-0042-1749526
Publikováno v:
Brain Disorders, Vol 2, Iss, Pp 100006-(2021)
Hypomyelinating leukodystrophies are heterogeneous genetic diseases with a wide phenotypic spectrum. Diagnosis and classification are often impaired by unspecific clinical and imaging features. A 16-year-old boy from Syria is described with spastic a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d1117bb2bfce0d10e0d83de25aa60ad
https://doi.org/10.1016/j.dscb.2021.100006
https://doi.org/10.1016/j.dscb.2021.100006
Publikováno v:
Documenta Ophthalmologica. 125:81-89
We report the clinical and genetic data obtained at a 17-year follow-up examination of a patient with gyrate atrophy, without an arginine-restricted diet. Patient examinations included visual acuity (VA), perimetry, biomicroscopy, funduscopy, fundus
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::546234702d1ddda1ba562def89e4dee0
https://doi.org/10.1007/s10633-012-9335-0
https://doi.org/10.1007/s10633-012-9335-0
Autor:
Philipp Meyer-Marcotty, Kathrin Saar, Bernhard H. F. Weber, Norbert Hubner, Angelika Stellzig-Eisenhauer, Wolfram Kress, Christiane Rau, Tiemo Grimm, Britta Fiebig, E. Witt, Franz Rüschendorf, Eva Decker
Publikováno v:
Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie. 71:6-16
The term "primary failure of eruption" (PFE) refers to the complete or partial failure of a primary non-ankylosed tooth to erupt due to a disturbance of the eruption mechanism. Up to now, the molecular basis for this failure was unknown. Four familie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8cd7bfd6ce0d46b7444d6fd2060c3c59
https://doi.org/10.1007/s00056-010-0908-9
https://doi.org/10.1007/s00056-010-0908-9
Autor:
Ulrich Kellner, Simone Kellner, Agnes B. Renner, Bernhard H. F. Weber, Silke Weinitz, Britta Fiebig
Publikováno v:
Klinische Monatsblätter für Augenheilkunde. 226:999-1011
BACKGROUND: Hereditary retinal dystrophies comprise a heterogeneous group of inherited retinal disorders with variable clinical presentation and multiple associated genes. Clinical diagnosis and differential diagnosis are difficult. The purpose of th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::70ae6619e1fb591aeb5c1112327c5371
https://doi.org/10.1055/s-0028-1109684
https://doi.org/10.1055/s-0028-1109684
Autor:
Franz Rüschendorf, Bernhard H. F. Weber, Angelika Stellzig-Eisenhauer, Kathrin Saar, Wolfram Kress, Christiane Rau, Britta Fiebig, Norbert Hubner, Tiemo Grimm, Eva Decker
Publikováno v:
The American Journal of Human Genetics. 83(6):781-786
Tooth eruption is a complex developmental process requiring coordinated navigation through alveolar bone and oral epithelium. Primary failure of tooth eruption (PFE) is associated with several syndromes primarily affecting skeletal development, but i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8160469d361fe91a84c38740c0c8bcf4
Autor:
Sabine Preisler-Adams, Ines Schönbuchner, Bernhard H. F. Weber, Brigitte Welling, Britta Fiebig, Bernd Dworniczak
Publikováno v:
Cancer Genetics and Cytogenetics. 168:44-49
A total of 226 index cases from high-risk hereditary breast and ovarian cancer families of German origin who had tested negative for small nucleotide alterations in BRCA1 and BRCA2 were analyzed for gross genomic rearrangements at the two gene loci b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2cb7bfab861a307fad2c700abcc65ba2
https://doi.org/10.1016/j.cancergencyto.2005.07.005
https://doi.org/10.1016/j.cancergencyto.2005.07.005