Search Results - Schnabel, Dirk

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  1. 1
    Treatment of Dwarfism With Recombinant Human Insulin-Like Growth Factor-1

    Treatment of Dwarfism With Recombinant Human Insulin-Like Growth Factor-1 by Ranke, Michael B., Wölfle, Joachim, Schnabel, Dirk, Bettendorf, Markus

    Published 2009
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  2. 2
    Rickets guidance: part I—diagnostic workup

    Rickets guidance: part I—diagnostic workup by Haffner, Dieter, Leifheit-Nestler, Maren, Grund, Andrea, Schnabel, Dirk

    Published 2021
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  3. 3
    Loss-of-Function ENPP1 Mutations Cause Both Generalized Arterial Calcification of Infancy and Autosomal-Recessive Hypophosphatemic Rickets

    Loss-of-Function ENPP1 Mutations Cause Both Generalized Arterial Calcification of Infancy and Autosomal-Recessive Hypophosphatemic Rickets by Lorenz-Depiereux, Bettina, Schnabel, Dirk, Tiosano, Dov, Häusler, Gabriele, Strom, Tim M.

    Published 2010
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  4. 4
    Acceptability of the reusable SurePal™ self-injection device for Omnitrope(®) among pediatric patients: results from a questionnaire-based, cross-sectional, multicenter observational study

    Acceptability of the reusable SurePal™ self-injection device for Omnitrope(®) among pediatric patients: results from a questionnaire-based, cross-sectional, multicenter observation... by Partsch, Carl-Joachim, Schnabel, Dirk, Ehtisham, Sarah, Johnstone, Helen C, Zabransky, Markus, Kiess, Wieland

    Published 2015
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  5. 5
    A Novel GNAS Duplication Associated With Loss-of-Methylation Restricted to Exon A/B Causes Pseudohypoparathyroidism Type Ib (PHP1B)

    A Novel GNAS Duplication Associated With Loss-of-Methylation Restricted to Exon A/B Causes Pseudohypoparathyroidism Type Ib (PHP1B) by Reyes, Monica, Kagami, Masayo, Kawashima, Sayaka, Pallotta, Johanna, Schnabel, Dirk, Fukami, Maki, Jüppner, Harald

    Published 2020
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  6. 6
    Acceptance of a reusable self-injection device for recombinant human growth hormone: final data from a questionnaire-based, cross-sectional, international, multicenter, observational study in pediatric patients

    Acceptance of a reusable self-injection device for recombinant human growth hormone: final data from a questionnaire-based, cross-sectional, international, multicenter, observation... by Schnabel, Dirk, Partsch, Carl-Joachim, Houang, Muriel, Ehtisham, Sarah, Johnstone, Helen, Zabransky, Markus, Kiess, Wieland

    Published 2016
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  7. 7
    Effectiveness and Overall Safety of NutropinAq(®) for Growth Hormone Deficiency and Other Paediatric Growth Hormone Disorders: Completion of the International Cooperative Growth Study, NutropinAq(®) European Registry (iNCGS)

    Effectiveness and Overall Safety of NutropinAq(®) for Growth Hormone Deficiency and Other Paediatric Growth Hormone Disorders: Completion of the International Cooperative Growth St... by Coutant, Regis, Bosch Muñoz, Jordi, Dumitrescu, Cristina Patricia, Schnabel, Dirk, Sert, Caroline, Perrot, Valerie, Dattani, Mehul

    Published 2021
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  8. 8
    Evolving pituitary hormone deficits in primarily isolated GHD: a review and experts’ consensus

    Evolving pituitary hormone deficits in primarily isolated GHD: a review and experts’ consensus by Binder, Gerhard, Schnabel, Dirk, Reinehr, Thomas, Pfäffle, Roland, Dörr, Helmuth-Günther, Bettendorf, Markus, Hauffa, Berthold, Woelfle, Joachim

    Published 2020
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  9. 9
    Increased Transactivation Associated with SOX3 Polyalanine Tract Deletion in a Patient with Hypopituitarism

    Increased Transactivation Associated with SOX3 Polyalanine Tract Deletion in a Patient with Hypopituitarism by Alatzoglou, Kyriaki S., Kelberman, Daniel, Cowell, Christopher T., Palmer, Rodger, Arnhold, Ivo J. P., Melo, Maria E., Schnabel, Dirk, Grueters, Annette, Dattani, Mehul T.

    Published 2011
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  10. 10
    Early-Onset Obesity: Unrecognized First Evidence for GNAS Mutations and Methylation Changes

    Early-Onset Obesity: Unrecognized First Evidence for GNAS Mutations and Methylation Changes by Grüters-Kieslich, Annette, Reyes, Monica, Sharma, Amita, Demirci, Cem, DeClue, Terry J., Lankes, Erwin, Tiosano, Dov, Schnabel, Dirk, Jüppner, Harald

    Published 2017
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  11. 11
    Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency

    Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency by Köhler, Birgit, Lin, Lin, Ferraz-de-Souza, Bruno, Wieacker, Peter, Heidemann, Peter, Schröder, Vanessa, Biebermann, Heike, Schnabel, Dirk, Grüters, Annette, Achermann, John C

    Published 2008
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  12. 12
    Novel Activating Mutations of the Calcium-Sensing Receptor: The Calcilytic NPS-2143 Mitigates Excessive Signal Transduction of Mutant Receptors

    Novel Activating Mutations of the Calcium-Sensing Receptor: The Calcilytic NPS-2143 Mitigates Excessive Signal Transduction of Mutant Receptors by Letz, Saskia, Rus, Ramona, Haag, Christine, Dörr, Helmuth-Günther, Schnabel, Dirk, Möhlig, Matthias, Schulze, Egbert, Frank-Raue, Karin, Raue, Friedhelm, Mayr, Bernhard, Schöfl, Christof

    Published 2010
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  13. 13
    FGF23 and its role in X-linked hypophosphatemia-related morbidity

    FGF23 and its role in X-linked hypophosphatemia-related morbidity by Beck-Nielsen, Signe Sparre, Mughal, Zulf, Haffner, Dieter, Nilsson, Ola, Levtchenko, Elena, Ariceta, Gema, de Lucas Collantes, Carmen, Schnabel, Dirk, Jandhyala, Ravi, Mäkitie, Outi

    Published 2019
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  14. 14
    The international X-linked hypophosphataemia (XLH) registry (NCT03193476): rationale for and description of an international, observational study

    The international X-linked hypophosphataemia (XLH) registry (NCT03193476): rationale for and description of an international, observational study by Padidela, Raja, Nilsson, Ola, Makitie, Outi, Beck-Nielsen, Signe, Ariceta, Gema, Schnabel, Dirk, Brandi, Maria Luisa, Boot, Annemieke, Levtchenko, Elena, Smyth, Michael, Jandhyala, Ravi, Mughal, Zulf

    Published 2020
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  15. 15
    Hereditary Hypophosphatemic Rickets with Hypercalciuria Is Caused by Mutations in the Sodium-Phosphate Cotransporter Gene SLC34A3

    Hereditary Hypophosphatemic Rickets with Hypercalciuria Is Caused by Mutations in the Sodium-Phosphate Cotransporter Gene SLC34A3 by Lorenz-Depiereux, Bettina, Benet-Pages, Anna, Eckstein, Gertrud, Tenenbaum-Rakover, Yardena, Wagenstaller, Janine, Tiosano, Dov, Gershoni-Baruch, Ruth, Albers, Norbert, Lichtner, Peter, Schnabel, Dirk, Hochberg, Ze’ev, Strom, Tim M.

    Published 2006
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  16. 16
    Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity

    Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity by Korvala, Johanna, Jüppner, Harald, Mäkitie, Outi, Sochett, Etienne, Schnabel, Dirk, Mora, Stefano, Bartels, Cynthia F, Warman, Matthew L, Deraska, Donald, Cole, William G, Hartikka, Heini, Ala-Kokko, Leena, Männikkö, Minna

    Published 2012
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  17. 17
    Mild COVID-19 despite autoantibodies against type I IFNs in autoimmune polyendocrine syndrome type 1

    Mild COVID-19 despite autoantibodies against type I IFNs in autoimmune polyendocrine syndrome type 1 by Meisel, Christian, Akbil, Bengisu, Meyer, Tim, Lankes, Erwin, Corman, Victor M., Staudacher, Olga, Unterwalder, Nadine, Kölsch, Uwe, Drosten, Christian, Mall, Marcus A., Kallinich, Tilmann, Schnabel, Dirk, Goffinet, Christine, von Bernuth, Horst

    Published 2021
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  18. 18
    Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency

    Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency by Krude, Heiko, Schütz, Barbara, Biebermann, Heike, von Moers, Arpad, Schnabel, Dirk, Neitzel, Heidi, Tönnies, Holger, Weise, Dagmar, Lafferty, Antony, Schwarz, Siegfried, DeFelice, Mario, von Deimling, Andreas, van Landeghem, Frank, DiLauro, Roberto, Grüters, Annette

    Published 2002
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  19. 19
    Vitamin D supplementation after the second year of life: joint position of the Committee on Nutrition, German Society for Pediatric and Adolescent Medicine (DGKJ e.V.), and the German Society for Pediatric Endocrinology and Diabetology (DGKED e.V.)

    Vitamin D supplementation after the second year of life: joint position of the Committee on Nutrition, German Society for Pediatric and Adolescent Medicine (DGKJ e.V.), and the Ger... by Reinehr, Thomas, Schnabel, Dirk, Wabitsch, Martin, Bechtold-Dalla Pozza, Susanne, Bührer, Christoph, Heidtmann, Bettina, Jochum, Frank, Kauth, Thomas, Körner, Antje, Mihatsch, Walter, Prell, Christine, Rudloff, Silvia, Tittel, Bettina, Woelfle, Joachim, Zimmer, Klaus-Peter, Koletzko, Berthold

    Published 2019
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  20. 20
    Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiencies

    Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiencies by Ferreira, Carlos R, Kintzinger, Kristina, Hackbarth, Mary E, Botschen, Ulrike, Nitschke, Yvonne, Mughal, M Zulf, Baujat, Genevieve, Schnabel, Dirk, Yuen, Eric, Gahl, William A, Gafni, Rachel I, Liu, Qing, Huertas, Pedro, Khursigara, Gus, Rutsch, Frank

    Published 2021
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