Search Results - "Daumer, C."

Prenatal sonographic diagnosis of skeletal dysplasias by Schramm, T., Gloning, K. P., Minderer, S., Daumer‐Haas, C., Hörtnagel, K., Nerlich, A., Tutschek, B.

“…Objective To assess the types and numbers of cases, gestational age at specific prenatal diagnosis and diagnostic accuracy of the diagnosis of skeletal…”
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EP18.46: Kabuki‐Syndrome in a fetus with thickened nuchal translucency and congenital corrected transposition of the great arteries by Schiessl, B., Janke, A., Liebrecht, D., Daumer‐Haas, C., Shoukier, M.

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EORTC stomach cancer PD-L1 biomarker European initiative: the ASPIRE study protocol by Petrillo, A., Oudijk, L., Sundar, R., Daumer, C., Casas, J., D’Haese, D., Mauer, M., van Grieken, N., Smyth, E.C., Moehler, M.

“…The evaluation of programmed death-ligand 1 (PD-L1) expression and the methodology employed are central to identify suitable candidates for immunotherapy among…”
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Down Syndrome Phenotypes: The Consequences of Chromosomal Imbalance by Korenberg, J. R., X.-N. Chen, Schipper, R., Sun, Z., Gonsky, R., Gerwehr, S., Carpenter, N., Daumer, C., Dignan, P., Disteche, C., Graham, J. M., Hudgins, L., McGillivray, B., Miyazaki, K., Ogasawara, N., Park, J. P., Pagon, R., Pueschel, S., Sack, G., Say, B., Schuffenhauer, S., Soukup, S., Yamanaka, T.

“…Down syndrome (DS) is a major cause of mental retardation and congenital heart disease. Besides a characteristic set of facial and physical features, DS is…”
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Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes by Kratz, C P, Franke, L, Peters, H, Kohlschmidt, N, Kazmierczak, B, Finckh, U, Bier, A, Eichhorn, B, Blank, C, Kraus, C, Kohlhase, J, Pauli, S, Wildhardt, G, Kutsche, K, Auber, B, Christmann, A, Bachmann, N, Mitter, D, Cremer, F W, Mayer, K, Daumer-Haas, C, Nevinny-Stickel-Hinzpeter, C, Oeffner, F, Schlüter, G, Gencik, M, Überlacker, B, Lissewski, C, Schanze, I, Greene, M H, Spix, C, Zenker, M

“…Background: Somatic mutations affecting components of the Ras-MAPK pathway are a common feature of cancer, whereas germline Ras pathway mutations cause…”
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Chromosomal in situ suppression hybridization of human gonosomes and autosomes and its use in clinical cytogenetics by JAUCH, A, DAUMER, C, LICHTER, P, MURKEN, J, SCHROEDER-KURTH, T, CREMER, T

“…DNA libraries from sorted human gonosomes were used selectively to stain the X and Y chromosomes in normal and aberrant cultured human cells by chromosomal in…”
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OC235: Prenatal diagnosis of skeletal dysplasias in a single institution by Schramm, T., Tutschek, B., Minderer, S., Daumer‐Haas, C., Hörtnagel, K., Nerlich, A., Gloning, K.

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Inheritance of mineralocorticoid effector abnormalities of human mononuclear leucocytes in families with pseudohypoaldosteronism by Wehling, M, Kuhnle, U, Daumer, C, Armanini, D

“…In-vitro effects of aldosterone on intracellular sodium and potassium concentrations have been described for normal human mononuclear leucocytes (HML). After…”
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Abstracts of the 34th World Congress on Ultrasound in Obstetrics and Gynecology, 15-18 September 2024, Budapest, Hungary by Huang, K

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Abstracts of the 34th World Congress on Ultrasound in Obstetrics and Gynecology, 15-18 September 2024, Budapest, Hungary by Schiessl, B, Janke, A, Liebrecht, D, Daumer-Haas, C, Shoukier, M

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Multiplex-FISH for Pre- and Postnatal Diagnostic Applications by Uhrig, Sabine, Schuffenhauer, Simone, Fauth, Christine, Wirtz, Antje, Daumer-Haas, Cornelia, Apacik, Can, Cohen, Monika, Müller-Navia, Jutta, Cremer, Thomas, Murken, Jan, Speicher, Michael R.

“…For >3 decades, Giemsa banding of metaphase chromosomes has been the standard karyotypic analysis for pre- and postnatal diagnostic applications. However,…”
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Die Wertigkeit der molekulargenetischen Testung bei Feten mit Skelettdysplasien by Lindner, M, Daumer-Haas, C, Bagowski, C, Shoukier, M, Minderer, S, Gloning, KP, Janke, A, Schramm, T

“…Einleitung: Skelettdysplasien umfassen eine große, heterogene Gruppe von Erkrankungen, bei denen die Bildung und das Wachstum von Knochen gestört sind. Bei…”
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Stellenwert der ACGH bei Feten mit schwerer intrauteriner Wachstumsretardierung (IUWR) by Gloning, V, Shoukier, M, Daumer-Haas, C, Bagowski, C, Minderer, S, Schramm, T, Gloning, KP

“…Abstract only…”
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Stellenwert der ACGH bei Feten mit schwerer intrauteriner Wachstumsretardierung (IUWR) by Gloning, V, Shoukier, M, Daumer-Haas, C, Bagowski, C, Minderer, S, Schramm, T, Gloning, KP

“…Hintergrund: Der Einsatz der aCGH Technologie in der Pränataldiagnostik ermöglicht die Detektion submikroskopischer Chromosomenimbalancen, die mit klinisch…”
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Delineation of a 2q deletion in a girl with dysmorphic features and epilepsy by Langer, Sabine, Geigl, Jochen B., Wagenstaller, Janine, Lederer, Gaby, Hempel, Maja, Daumer‐Haas, Cornelia, Leifheit, Hans‐Jürgen, Speicher, Michael R.

“…In recent years, the spectrum of available methods for the characterization of chromosomal aberrations has significantly increased. Micro‐array technologies…”
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Down syndrome phenotypes: The consequences of chromosomal imbalance

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Corrections: Down Syndrome Phenotypes: The Consequences of Chromosomal Imbalance by Korenberg, J. R., Chen, X. N., Schipper, R., Sun, Z., Gonsky, R., Gerwehr, S, Carpenter, N., Daumer, C., Dignan, P., Disteche, C., Graham, J. M., Hugdins, L., McGillivray, B., Miyazaki, K., Ogasawara, N., Park, J. P., Pagon, R., Pueschel, S., Sack, G., Say, B., Schuffenhauer, S., Soukup, S., Yamanaka, T.

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Tetrasomy 21 pter-->q22.1 and Down syndrome: molecular definition of the region by Daumer-Haas, C, Schuffenhauer, S, Walther, J U, Schipper, R D, Porstmann, T, Korenberg, J R

“…Down syndrome is usually caused by complete trisomy 21. Rarely, it is due to partial trisomy of the segment 21q22. We report on a 33-month-old girl with…”
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Pränatale exzessive Polyhydramnie: Zwei Kasuistiken by Schneider, V., Schramm, T., Daumer-Haas, C., Minderer, S., Gloning, K.

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Intuitive Development: Communication in the Nineties by Johnson, Pamela R., Daumer, Claudia Rawlins

“…Communication is an intuitive as well as cognitive process. In order to develop the brain skill of intuition, it is sometimes necessary to shut down cognitive…”
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