Zobrazeno 1 - 10
of 48
pro vyhledávání: '"Roland Pfaeffle"'
Autor:
Mandy Vogel, Christoph Beger, Ruth Gausche, Anne Jurkutat, Roland Pfaeffle, Antje Körner, Christof Meigen, Tanja Poulain, Wieland Kiess
Publikováno v:
BMC Research Notes, Vol 14, Iss 1, Pp 1-3 (2021)
Abstract Objective The COVID-19 pandemic and the measures implemented to stop the pandemic had a broad impact on our daily lives. Besides work and social life, health care is affected on many levels. In particular, there is concern that attendance in
Externí odkaz:
https://doaj.org/article/910dbd8f11e14c348c3d79a8f997a26c
Autor:
Wieland Kiess, Roland Pfaeffle
Publikováno v:
Jornal de Pediatria, Vol 83, Iss 2, Pp 97-99 (2007)
Externí odkaz:
https://doaj.org/article/20fc09f38ed041868074c4d2a8b82ebe
Autor:
Jenny A. Visser, Jesús Argente, Laura C. G. de Graaff, Anita C. S. Hokken-Koelega, Sebastian J C M M Neggers, Joost Verlouw, Annemieke J.M.H. Verkerk, Roland Pfaeffle, Melitza Elizabeth
Publikováno v:
Pituitary
Pituitary, 24(2), 229-241. Kluwer Academic
Pituitary, 24(2), 229-241. Kluwer Academic
PurposeCongenital hypopituitarism (CH) can cause significant morbidity or even mortality. In the majority of patients, the etiology of CH is unknown. Understanding the etiology of CH is important for anticipation of clinical problems and for genetic
Publikováno v:
Klinische Pädiatrie. 232:5-12
Zusammenfassung Einleitung Die Geschlechtsdysphorie im Kindes- und Jugendalter (GD) zeigt sich durch eine Inkongruenz zwischen dem Geburtsgeschlecht und der gefühlten Geschlechtsidentität, welche in der Regel in der Pubertät zunimmt. Kinder und Ju
Autor:
Thierry Brue, Jacob O. Kitzman, Frédérique Albarel, Cathy Smith, Julian Martinez Mayer, Hironori Bando, Peter Gergics, Mariam Maksutova, Debora Braslavsky, Julia Hoppmann, Sebastián Alexis Vishnopolska, Rami Abou Jamra, Qianyi Ma, Ignacio Bergadá, Berenice B. Mendonca, Frederic Castinetti, Sally A. Camper, Qing Fang, Marilena Nakaguma, Alexander A. L. Jorge, María Inés Pérez Millán, Ivo J.P. Arnhold, Michael H. Guo, Ana Keselman, Anne Barlier, Luciani R. Carvalho, A. Bilge Ozel, Roland Pfaeffle, Sajini Jayakody, Denise Rockstroh-Lippold, Andrew Dauber, Jun Li, Alexandru Saveanu, Marcelo A. Martí
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2021, 108 (8), pp.1526-1539. ⟨10.1016/j.ajhg.2021.06.013⟩
Am J Hum Genet
American Journal of Human Genetics, Elsevier (Cell Press), 2021, 108 (8), pp.1526-1539. ⟨10.1016/j.ajhg.2021.06.013⟩
Am J Hum Genet
International audience; Pituitary hormone deficiency occurs in ∼1:4,000 live births. Approximately 3% of the cases are due to mutations in the alpha isoform of POU1F1, a pituitary-specific transcriptional activator. We found four separate heterozyg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e3a2583e4d44ed020745730261e348e
https://hal-amu.archives-ouvertes.fr/hal-03293410/document
https://hal-amu.archives-ouvertes.fr/hal-03293410/document
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 32:1199-1201
Autor:
Juergen Kratzsch, Friedhelm Raue, Michael Schaab, Joachim Thiery, Wieland Kiess, Toralf Kirsten, Mandy Geserick, Ronny Baber, Yoon Ju Bae, Roland Pfaeffle, Mandy Vogel, Felix Eckelt
Publikováno v:
Clinical Chemistry and Laboratory Medicine (CCLM). 57:1242-1250
Background There is only limited information on serum reference ranges of calcitonin (CT) in infants, children and adolescents. This gap hampers valid diagnostics in patients with multiple endocrine neoplasia type 2 (MEN 2) and planned prophylactic t
Autor:
Jacob O. Kitzman, Frederic Castinetti, Andrew Dauber, Julia Hoppmann, Ana Keselman, I J P Arnhold, Luciani R. Carvalho, Alexandru Saveanu, Denise Rockstroh-Lippold, Rami Abou Jamra, Jun Li, Alexander A. L. Jorge, Anne Barlier, Qing Fang, Sebastián Alexis Vishnopolska, Cathy Smith, Debora Braslavsky, Ignacio Bergadá, A. Bilge Ozel, Hironori Bando, Thierry Brue, Sally A. Camper, Frédérique Albarel, Peter Gergics, Julian Martinez Mayer, Marilena Nakaguma, María Inés Pérez Millán, Qianyi Ma, Roland Pfaeffle, Marcelo A. Martí, Berenice B. Mendonca, Mariam Maksutova, Michael H. Guo
Pituitary hormone deficiency occurs in ∼1:4,000 live births. Approximately 3% of the cases are due to mutations in the alpha isoform of POU1F1, a pituitary-specific transcriptional activator. We found four separate heterozygous missense variants in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::902e1f4c3904140e4d8b2e8f7b772631
https://doi.org/10.1101/2021.02.04.21249469
https://doi.org/10.1101/2021.02.04.21249469
Publikováno v:
Klinische Padiatrie. 232(1)
Gender dysphoria (GD) in childhood and adolescence is characterized by an incongruence between sex at birth and gender identity, which usually increases during puberty. Gender dysphoric children and adolescents often suffer from psychological comorbi
Autor:
Wieland Kiess, Mandy Vogel, C Paetzold, Ruth Gausche, C G Arsene, B Guettler, Eberhard Keller, Roland Pfaeffle, Isabel Viola Wagner, Juergen Kratzsch, Antje Koerner, Joachim Thiery, A Henrion
Publikováno v:
European Journal of Endocrinology. 171:389-397
ContextCutoff limits of GH stimulation tests to diagnose GH deficiency (GHD) in children and adolescents are not sufficiently validated by clinical studies due to discrepancies in the performance of GH immunoassays and lack of available study populat