Leitlinien und Referenzwerte

Cagnoli, M., Richter, R., Bohm, P., Knye, K., Empting, S., & Mohnike, K. (2017). Spontaneous Growth and Effect of Early Therapy with Calcitriol and Phosphate in X-linked Hypophosphatemic Rickets. Pediatr Endocrinol Rev, 15(Suppl 1), 119-122.

Dorr, H. G., Bettendorf, M., Binder, G., Bramswig, J., Hauffa, B. P., Holterhus, P. M., . . . und die Turner-Syndrom-Vereinigung Deutschland e, V. (2020). [Medical care of young women with Turner syndrome in Germany]. Deutsche medizinische Wochenschrift, 145(4), e18-e23.

Eggermann, T., Elbracht, M., Kurth, I., Juul, A., Johannsen, T. H., Netchine, I., . . . European Reference Network on Rare Endocrine, C. (2020). Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN). Orphanet J Rare Dis, 15(1), 144.

Gelb, B. D., Cave, H., Dillon, M. W., Gripp, K. W., Lee, J. A., Mason-Suares, H., . . . ClinGen, R. W. G. (2018). ClinGen's RASopathy Expert Panel consensus methods for variant interpretation. Genet Med, 20(11), 1334-1345.

Gripp, K. W., Schill, L., Schoyer, L., Stronach, B., Bennett, A. M., Blaser, S., . . . Ratner, N. (2020). The sixth international RASopathies symposium: Precision medicine-From promise to practice. American journal of medical genetics. Part A, 182(3), 597-606.

Merker, A., Neumeyer, L., Hertel, N. T., Grigelioniene, G., Makitie, O., Mohnike, K., & Hagenas, L. (2018). Growth in achondroplasia: Development of height, weight, head circumference, and body mass index in a European cohort. American journal of medical genetics. Part A, 176(8), 1723-1734.

Merker, A., Neumeyer, L., Hertel, N. T., Grigelioniene, G., Mohnike, K., & Hagenas, L. (2018). Development of body proportions in achondroplasia: Sitting height, leg length, arm span, and foot length. American journal of medical genetics. Part A, 176(9), 1819-1829.

Quitmann, J., Bloemeke, J., Silva, N., Bullinger, M., Witt, S., Akkurt, I., . . . Dorr, H. G. (2019). Quality of Life of Short-Statured Children Born Small for Gestational Age or Idiopathic Growth Hormone Deficiency Within 1 Year of Growth Hormone Treatment. Front Pediatr, 7, 164.

Wakeling, E. L., Brioude, F., Lokulo-Sodipe, O., O'Connell, S. M., Salem, J., Bliek, J., . . . Netchine, I. (2017). Diagnosis and management of Silver-Russell syndrome: first international consensus statement. Nat Rev Endocrinol, 13(2), 105-124.

Witt, S., Kolb, B., Bloemeke, J., Mohnike, K., Bullinger, M., & Quitmann, J. (2019). Quality of life of children with achondroplasia and their parents - a German cross-sectional study. Orphanet J Rare Dis, 14(1), 194.

Letzte Änderung: 19.01.2021 - Ansprechpartner:

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