Search Results - "Greulich, B"

Clinician’s guide to genes associated with Rett‐like phenotypes—Investigation of a Danish cohort and review of the literature by Schönewolf‐Greulich, B., Bisgaard, A‐M., Møller, R.S., Dunø, M., Brøndum‐Nielsen, K., Kaur, S., Van Bergen, N.J., Lunke, S., Eggers, S., Jespersgaard, C., Christodoulou, J., Tümer, Z.

“…The differential diagnostics in Rett syndrome has evolved with the development of next generation sequencing‐based techniques and many patients have been…”
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The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome by Schönewolf-Greulich, B., Tejada, M.-I., Stephens, K., Hadzsiev, K., Gauthier, J., Brøndum-Nielsen, K., Pfundt, R., Ravn, K., Maortua, H., Gener, B., Martínez-Bouzas, C., Piton, A., Rouleau, G., Clayton-Smith, J., Kleefstra, T., Bisgaard, A.-M., Tümer, Z.

“…Missense MECP2 variants can have various phenotypic effects ranging from a normal phenotype to typical Rett syndrome (RTT). In females, the phenotype can also…”
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Corrigendum to “Development of hypomelanotic macules is associated with constitutive activated mTORC1 in tuberous sclerosis complex” [Mol. Genet. Metab. 120(4) (Apr 2017) 384–391] by Møller, L.B., Schönewolf-Greulich, B., Rosengren, T., Larsen, L.J., Ostergaard, J.R., Sommerlund, M., Ostenfeldt, C., Stausbøl-Grøn, B., Linnet, K.M., Gregersen, P.A., Jensen, U.B.

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Pedunculated, well differentiated liposarcoma of the oesophagus mimicking giant fibrovascular polyp by Mehdorn, A S, Schmidt, F, Steinestel, K, Wardelmann, E, Greulich, B, Palmes, D, Senninger, N

“…We present a rare case of a big oesophageal liposarcoma causing dysphagia and weight loss in a 75-year-old patient. Endoscopically, a pedunculated lesion with…”
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P189 – 2279: Is the regression period in Rett syndrome well defined and easy to recognize? by Bisgaard, A.M, Stahlhut, M, Larsen, J.L, Syhler, B, Schönewolf-Greulich, B

“…Objective In order to increase knowledge of regression as a clue to diagnose Rett syndrome (RTT), we want to investigate if the regression period (RP) is well…”
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OP21 – 2277: Centre for Rett syndrome in Denmark – Clinical follow-up with short distance to research by Bisgaard, A.M, Stahlhut, M, Larsen, J.L, Syhler, B, Kragerup, K, Larsen, S.G, Schönewolf-Greulich, B

“…Objective Since 2011 persons with Rett syndrome (RTT) in Denmark have had the possibility for life-long multi-disciplinary follow-up at the nation-wide Centre…”
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Where to attach dye molecules to a protein: lessons from the computer program what if by Altenberg-Greulich, B., Vriend, G.

“…Genomic and proteomic projects are producing a flood of data that all require interpretation which often is best performed based on a three dimensional…”
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Gene2EST: a BLAST2 server for searching expressed sequence tag (EST) databases with eukaryotic gene-sized queries by Gemünd, C, Ramu, C, Altenberg-Greulich, B, Gibson, T J

“…Expressed sequence tags (ESTs) are randomly sequenced cDNA clones. Currently, nearly 3 million human and 2 million mouse ESTs provide valuable resources that…”
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Natural course of remission in IDDM during 1st yr after diagnosis by Martin, S, Pawlowski, B, Greulich, B, Ziegler, A G, Mandrup-Poulsen, T, Mahon, J

“…Natural course of remission in IDDM during 1st yr after diagnosis. S Martin , B Pawlowski , B Greulich , A G Ziegler , T Mandrup-Poulsen and J Mahon Diabetes…”
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DLG4-related synaptopathy: a new rare brain disorder by Rodríguez-Palmero, Agustí, Boerrigter, Melissa Maria, Gómez-Andrés, David, Aldinger, Kimberly A., Marcos-Alcalde, Íñigo, Popp, Bernt, Everman, David B., Lovgren, Alysia Kern, Arpin, Stephanie, Bahrambeigi, Vahid, Beunders, Gea, Bisgaard, Anne-Marie, Bjerregaard, V. A., Bruel, Ange-Line, Challman, Thomas D., Cogné, Benjamin, Coubes, Christine, de Man, Stella A., Denommé-Pichon, Anne-Sophie, Dye, Thomas J., Elmslie, Frances, Feuk, Lars, García-Miñaúr, Sixto, Gertler, Tracy, Giorgio, Elisa, Gruchy, Nicolas, Haack, Tobias B., Haldeman-Englert, Chad R., Haukanes, Bjørn Ivar, Hoyer, Juliane, Hurst, Anna C. E., Isidor, Bertrand, Soller, Maria Johansson, Kushary, Sulagna, Kvarnung, Malin, Landau, Yuval E., Leppig, Kathleen A., Lindstrand, Anna, Kleinendorst, Lotte, MacKenzie, Alex, Mandrile, Giorgia, Mendelsohn, Bryce A., Moghadasi, Setareh, Morton, Jenny E., Moutton, Sebastien, Müller, Amelie J., O’Leary, Melanie, Pacio-Míguez, Marta, Palomares-Bralo, Maria, Parikh, Sumit, Pfundt, Rolph, Pode-Shakked, Ben, Rauch, Anita, Repnikova, Elena, Revah-Politi, Anya, Ross, Meredith J., Ruivenkamp, Claudia A. L., Sarrazin, Elisabeth, Savatt, Juliann M., Schlüter, Agatha, Schönewolf-Greulich, Bitten, Shad, Zohra, Shaw-Smith, Charles, Shieh, Joseph T., Shohat, Motti, Spranger, Stephanie, Thiese, Heidi, Mau-Them, Frederic Tran, van Bon, Bregje, van de Burgt, Ineke, van de Laar, Ingrid M. B. H., van Drie, Esmée, van Haelst, Mieke M., van Ravenswaaij-Arts, Conny M., Verdura, Edgard, Vitobello, Antonio, Waldmüller, Stephan, Whiting, Sharon, Zweier, Christiane, Prada, Carlos E., de Vries, Bert B. A., Dobyns, William B., Reiter, Simone F., Gómez-Puertas, Paulino, Pujol, Aurora, Tümer, Zeynep

“…Purpose Postsynaptic density protein-95 (PSD-95), encoded by DLG4 , regulates excitatory synaptic function in the brain. Here we present the clinical and…”
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Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA by Revencu, Nicole, Eijkelenboom, Astrid, Bracquemart, Claire, Alhopuro, Pia, Armstrong, Judith, Baselga, Eulalia, Cesario, Claudia, Dentici, Maria Lisa, Eyries, Melanie, Frisk, Sofia, Karstensen, Helena Gásdal, Gene-Olaciregui, Nagore, Kivirikko, Sirpa, Lavarino, Cinzia, Mero, Inger-Lise, Michiels, Rodolphe, Pisaneschi, Elisa, Schönewolf-Greulich, Bitten, Wieland, Ilse, Zenker, Martin, Vikkula, Miikka

“…Vascular anomalies caused by somatic (postzygotic) variants are clinically and genetically heterogeneous diseases with overlapping or distinct entities. The…”
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In the literature: midwifery care: the "gold standard" for normal childbirth? by Albers, L L, Sedler, K D, Greulich, B

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The MECP2 variant c. 925C >T (p. Arg309Trp ) causes intellectual disability in both males and females without classic features of Rett syndrome by Schönewolf‐Greulich, B., Tejada, M.‐I., Stephens, K., Hadzsiev, K., Gauthier, J., Brøndum‐Nielsen, K., Pfundt, R., Ravn, K., Maortua, H., Gener, B., Martínez‐Bouzas, C., Piton, A., Rouleau, G., Clayton‐Smith, J., Kleefstra, T., Bisgaard, A.‐M., Tümer, Z.

“…Missense MECP2 variants can have various phenotypic effects ranging from a normal phenotype to typical Rett syndrome ( RTT ). In females, the phenotype can…”
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The Latent Phase of Labor: Diagnosis and Management by Greulich, Betsy, Tarrant, Beth

“…The latent phase of labor is complex and not completely understood by modern science. Studies often ignore evaluation of this phase of labor because…”
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Segregation of a 4p16.3 duplication with a characteristic appearance, macrocephaly, speech delay and mild intellectual disability in a 3-generation family by Schönewolf-Greulich, Bitten, Ravn, Kirstine, Hamborg-Petersen, Bente, Brøndum-Nielsen, Karen, Tümer, Zeynep

“…ABSTRACT Microscopically visible rearrangements of chromosome 4p includes the two well known abnormalities: partial trisomy 4p, and deletions of the…”
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Correlation of islet cell antibodies and HLA-DR phenotypes with diabetes mellitus in adults by GLEICHMANN, H, ZÖRCHER, B, GREULICH, B, GRIES, F. A, HENRICHS, H. R, BERTRAMS, J, KOLB, H

“…In a cross-sectional study, sera of 81 adult diabetic in-patients were tested for the presence of pancreatic islet cell antibodies (ICA), both IgG and…”
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Do unsutured second-degree perineal lacerations affect postpartum functional outcomes? by Leeman, Lawrence M, Rogers, Rebecca G, Greulich, Betsy, Albers, Leah L

“…To compare the postpartum pelvic floor function of women with sutured second-degree perineal lacerations, unsutured second-degree perineal lacerations, and…”
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Body Mass Index, Midwifery Intrapartum Care, and Childbirth Lacerations by Albers, Leah L., Greulich, Betsy, Peralta, Patricia

“…Weight status is an important determinant of many health indices. Data from a clinical trial on measures to lower genital tract trauma in vaginal birth were…”
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Suppression of low-dose streptozotocin-induced diabetes by immunomodulatory lectins by Kolb, H, Oschilewski, M, Schwab, E, Greulich, B, Roos, P, Kiesel, U

“…The effect of immunomodulatory lectins on diabetes development following low-dose streptozotocin treatment in inbred mice was studied. All lectins administered…”
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Induction of experimental autoimmune diabetes by low-dose streptozotocin treatment in genetically resistant mice by Kiesel, U, Greulich, B, Moumé, C M, Kolb, H

“…We have studied the effect of suppressor cell elimination on the induction of experimental autoimmune diabetes in mouse strains which are normally low or…”
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