Search Results - "Pfaeffle, R. W."

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    Functional Characterization of a Heterozygous GLI2 Missense Mutation in Patients With Multiple Pituitary Hormone Deficiency by Flemming, G. M. C, Klammt, J, Ambler, G, Bao, Y, Blum, W. F, Cowell, C, Donaghue, K, Howard, N, Kumar, A, Sanchez, J, Stobbe, H, Pfäffle, R. W

    “…Context: The GLI2 transcription factor is a major effector protein of the sonic hedgehog pathway and suggested to play a key role in pituitary development…”
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    Mutations in PROP1 cause familial combined pituitary hormone deficiency by WEI WU, COGAN, J. D, PHILLIPS, J. A, ROSENFELD, M. G, PFÄFFLE, R. W, DASEN, J. S, FRISCH, H, O'CONNELL, S. M, FLYNN, S. E, BROWN, M. R, MULLIS, P. E, PARKS, J. S

    Published in Nature genetics (01-02-1998)
    “…Combined pituitary hormone deficiency (CPHD) in man denotes impaired production of growth hormone (GH) and one or more of the other five anterior pituitary…”
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    Mutations in the LHX3 gene cause dysregulation of pituitary and neural target genes that reflect patient phenotypes by Savage, Jesse J., Hunter, Chad S., Clark-Sturm, Surilda L., Jacob, Tanya M., Pfaeffle, Roland W., Rhodes, Simon J.

    Published in Gene (01-10-2007)
    “…The LHX3 LIM-homeodomain transcription factor is required for correct development of the mammalian pituitary gland and spinal motoneurons. Mutations in the…”
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    Does childhood obesity affect sexual development? by Wagner, I V, Sergeyev, E, Dittrich, K, Gesing, J, Neef, M, Adler, M, Geserick, M, Pfäffle, R W, Körner, A, Kiess, W

    “…The process of pubertal development is only partly understood and is influenced by many different factors. During the twentieth century there was a general…”
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    Tandem mass spectrometric determination of succinylacetone in dried blood spots enables presymptomatic detection in a case of hepatorenal tyrosinaemia by Weigel, J. F. W., Janzen, N., Pfäffle, R. W., Thiery, J., Kiess, W., Ceglarek, U.

    Published in Journal of inherited metabolic disease (01-08-2007)
    “…Summary Tyrosinaemia type I, or fumarylacetoacetase deficiency, causes hepatorenal damage by accumulation of fumarylacetoacetate. Patients are generally in…”
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    Mutation of the POU-Specific Domain of Pit-1 and Hypopituitarism Without Pituitary Hypoplasia by Pfäffle, R. W., DiMattia, G. E., Parks, J. S., Brown, M. R., Wit, J. M., Jansen, M., Van der Nat, H., Van den Brande, J. L., Rosenfeld, M. G., Ingraham, H. A.

    “…A point mutation in the POU-specific portion of the human gene that encodes the tissue-specific POU-domain transcription factor, Pit-1, results in…”
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    Auxological and endocrine phenotype in a population-based cohort of patients with PROP1 gene defects by Lebl, Jan, Vosáhlo, Jan, Pfaeffle, Roland W, Stobbe, Heike, Černá, Jana, Novotná, Dana, Zapletalová, Jiřina, Kalvachová, Božena, Hána, Václav, Weiss, Vladimír, Blum, Werner F

    Published in European journal of endocrinology (01-09-2005)
    “…Objective: Multiple pituitary hormone deficiency (MPHD) may result from defects of transcription factors that govern early pituitary development. We aimed to…”
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    Beeinflusst die kindliche Adipositas die Pubertätsentwicklung? by Wagner, I.V., Sergeyev, E., Dittrich, K., Gesing, J., Neef, M., Adler, M., Geserick, M., Pfäffle, R.W., Körner, A., Kiess, W.

    “…Zusammenfassung Die Steuerung der Pubertätsentwicklung ist bis heute nicht komplett verstanden und kann von vielen Faktoren beeinflusst werden. Während des…”
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