Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Nadine Schönherr"'
Autor:
Nadine Schönherr
Bachelorarbeit aus dem Jahr 2020 im Fachbereich Pflegewissenschaft - Pflegemanagement, Note: 1,3, Ernst-Abbe-Hochschule Jena, ehem. Fachhochschule Jena, Sprache: Deutsch, Abstract: Diese Bachelorarbeit beschäftigt sich mit dem Wandel der Pflege im K
Autor:
Nadine Schönherr, Gesa Schwanitz, Isabelle Leisten, Gerhard Binder, Alina T. Midro, Sabrina Spengler, Magdalena Gogiel, Thomas Eggermann
Publikováno v:
International Journal of Human Genetics. 9:269-272
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6983067da6f1f3dd2bc4728e94197b79
https://doi.org/10.1080/09723757.2009.11886078
https://doi.org/10.1080/09723757.2009.11886078
Autor:
Jan Senderek, Herdit M. Schüler, Michael Baudis, Nadine Schönherr, Miriam Elbracht, Andreas Roos, Thomas Eggermann
Publikováno v:
American Journal of Medical Genetics Part A. :2417-2420
Chromosome 13 deletions are associated with widely varying phenotypes but the clinical picture nearly almost includes mental and growth retardation, craniofacial dysmorphisms, and/or malformations. Several attempts have been made to link monosomy 13q
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4f5f052ccca3b95e39d1bd74a7d9bf6
https://doi.org/10.1002/ajmg.a.32465
https://doi.org/10.1002/ajmg.a.32465
Autor:
Hartmut A. Wollmann, C Spaich, Gerhard Binder, Thomas Eggermann, Michael B. Ranke, Susanne Jäger, Nadine Schönherr
Publikováno v:
Clinical Genetics. 74:486-489
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4e44777fa1ae76168c441252af0842fa
https://doi.org/10.1111/j.1399-0004.2008.01057.x
https://doi.org/10.1111/j.1399-0004.2008.01057.x
Autor:
E. Meyer, Katja Eggermann, Michael B. Ranke, Thomas Eggermann, Hartmut A. Wollmann, Nadine Schönherr
Publikováno v:
European Journal of Medical Genetics. 49:414-418
(Epi)mutations affecting chromosome 11p15 are meanwhile well known to be associated with growth disturbances. The finding of 11p15 mutations in the overgrowth disease Beckwith–Wiedemann syndrome (BWS) led to the identification of imprinted growth-p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46cf19bf0c011966ab39550a056f7f84
https://doi.org/10.1016/j.ejmg.2006.03.001
https://doi.org/10.1016/j.ejmg.2006.03.001
Autor:
Franziska Flick, Nadine Schönherr, Heike Chauvistré, Thomas Eggermann, Esther Meyer, Hartmut A. Wollmann, Miriam Mavany
Publikováno v:
Molecular Genetics and Metabolism. 90:224-226
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7ce4d23f1a33005f3fb6187dd740b6a
https://doi.org/10.1016/j.ymgme.2006.09.004
https://doi.org/10.1016/j.ymgme.2006.09.004
Autor:
Michael Baudis, Thomas Eggermann, Sabrina Spengler, Hartmut A. Wollmann, Bernd Denecke, Nadine Schönherr, Reinhard Mühlenberg, Gerhard Binder, Susanne Fricke-Otto
Silver–Russell syndrome (SRS) is a heterogeneous disorder associated with intrauterine and postnatal growth restriction, body asymmetry, a relative macrocephaly, a characteristic triangular face and further dysmorphisms. In about 50% of patients, g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f56173f0eba5b672728118102c557f23
https://www.zora.uzh.ch/id/eprint/28718/
https://www.zora.uzh.ch/id/eprint/28718/
Autor:
Thomas Eggermann, Hartmut A. Wollmann, Gerhard Binder, Michael B. Ranke, Susanne Jäger, Nadine Schönherr, Sabrina Spengler
Publikováno v:
Journal of pediatric endocrinologymetabolism : JPEM. 22(6)
Silver-Russell syndrome (SRS) is a heterogeneous disease associated with intrauterine and postnatal growth retardation (IUGR/PNGR), asymmetry and craniofacial dysmorphisms. In 7-10% of patients with SRS, maternal uniparental disomy of chromosome 7 ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5382f41d1ae3a06900be666a084781e0
https://pubmed.ncbi.nlm.nih.gov/19694203
https://pubmed.ncbi.nlm.nih.gov/19694203
Autor:
Thomas Eggermann, Nadine Schönherr, Sabrina Spengler, Gesa Schwanitz, Magdalena Gogiel, Isabelle Leisten, Gerhard Binder, Alina T. Midro
Publikováno v:
ResearcherID
KEYWORDS Silver-Russell Syndrome. Hypomethylation. Imprinting. ICR.BORIS ABSTRACT Silver-Russell syndrome (SRS) is a heterogeneous disorder associated with intrauterine and postnatal growth retardation, skeletal asymmetry and facial dysmorphisms. In
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::709c13752579466d83013d4739444bbd
https://doi.org/10.31901/24566330.2009/09.03-04.09
https://doi.org/10.31901/24566330.2009/09.03-04.09
Autor:
Elke Kämmerer, Nadine Schönherr, Eckard Korsch, Thomas Eggermann, Hartmut A. Wollmann, Gerhard Binder
Publikováno v:
Journal of pediatric endocrinologymetabolism : JPEM. 21(10)
Opposite (epi)mutations affecting the imprinted region 11p15 are associated with Silver-Russell (SRS) and Beckwith-Wiedemann syndrome (BWS). Apart from other disturbances more than 35% of patients with SRS show hypomethylation at the imprinting contr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7094ff4dab8f3e588c690023b930b010
https://pubmed.ncbi.nlm.nih.gov/19209620
https://pubmed.ncbi.nlm.nih.gov/19209620