Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles

Autor: Angius, Andrea, Baker, Janice A., Bedoukian, Emma, Bhambhani, Vikas, Bodamer, Olaf, O’Brien, Alan, Clayton-Smith, Jill, Crisponi, Laura, Cueto González, Anna María, the DDD study, Devriendt, Koenraad, Garrido, Elena Dominguez, Ehmke, Nadja, van Eerde, Albertien, van den Elzen, Annette P.M., Faivre, Laurence, Fisher, Laura, Flores-Daboub, Josue A., Foster, Alison, Friedman, Jennifer, Gabau, Elisabeth, Galazzi, Elena, García-Miñaúr, Sixto, Garavelli, Livia, Gardeitchik, Thatjana, Gerkes, Erica H., van Gils, Julien, Giltay, Jacques C., Garcia, Aixa Gonzalez, Heimdal, Ketil Riddervold, Horn, Denise, Houge, Gunnar, Hufnagel, Sophia B., Ilencikova, Denisa, Julia, Sophie, Kant, Sarina G., Kinning, Esther, Klee, Eric W., Kois, Chelsea, Kovačević, Maja, Lachmeijer, A.M.A. (Guus), Lanpher, Brendan, Lebrun, Marine, Leon, Eyby, Lichty, Angie Ward, Lin, Ruth, Llano-Rivas, Isabel, Lynch, Sally Ann, Maas, Saskia M., Maitz, Silvia B., McKee, Shane, Melis, Daniela, Merati, Elisabetta, Merla, Giuseppe, Newbury-Ecob, Ruth, Nizon, Mathilde, Park, Soo-Mi, Patterson, Jennifer, Petit, Florence, Peeters, Hilde, Persani, Luca, Persico, Ivana, Pes, Valentina, Pollazzon, Marzia, Potjer, Thomas, Potocki, Lorraine, Pottinger, Carrie, Prasad, Chitra, Prijoles, Eloise J., Ragge, Nicola K., Rake, Jan Peter, van Ravenswaaij-Arts, Conny M.A., Rea, Gillian, Ruivenkamp, Claudia, Rutz, Audrey, Saitta, Sulagna C., Russo, Rossana Sanchez, Santen, Gijs W.E., Schaefer, Elise, Shashi, Vandana, Schultz-Rogers, Laura, Sluga, Andrea, Sotgiu, Stefano, Steichen-Gersdorf, Elisabeth, Sullivan, Jennifer A., Sun, Yu, Suri, Mohnish, Tartaglia, Marco, Tedder, Matt, Terhal, Paulien, Tully, Ian, Verbeek, Nienke, Wenzel, Maren, White, Susan M., Xiao, Bing, Haghshenas, Sadegheh, Bout, Hidde J., Schijns, Josephine M., Levy, Michael A., Kerkhof, Jennifer, Bhai, Pratibha, McConkey, Haley, Jenkins, Zandra A., Williams, Ella M., Halliday, Benjamin J., Huisman, Sylvia A., Lauffer, Peter, de Waard, Vivian, Witteveen, Laura, Banka, Siddharth, Brady, Angela F., Hurst, Anna C.E., Kaiser, Frank J., Lacombe, Didier, Martinez-Monseny, Antonio F., Fergelot, Patricia, Monteiro, Fabíola P., Parenti, Ilaria, Santos-Simarro, Fernando, Simpson, Brittany N., Alders, Mariëlle, Robertson, Stephen P., Sadikovic, Bekim, Menke, Leonie A.

Publikováno v: In Human Genetics and Genomics Advances 18 July 2024 5(3)

Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients

Autor: Grünert Sarah C, Müllerleile Stephanie, De Silva Linda, Barth Michael, Walter Melanie, Walter Kerstin, Meissner Thomas, Lindner Martin, Ensenauer Regina, Santer René, Bodamer Olaf A, Baumgartner Matthias R, Brunner-Krainz Michaela, Karall Daniela, Haase Claudia, Knerr Ina, Marquardt Thorsten, Hennermann Julia B, Steinfeld Robert, Beblo Skadi, Koch Hans-Georg, Konstantopoulou Vassiliki, Scholl-Bürgi Sabine, van Teeffelen-Heithoff Agnes, Suormala Terttu, Sperl Wolfgang, Kraus Jan P, Superti-Furga Andrea, Schwab Karl Otfried, Sass Jörn Oliver

Publikováno v: Orphanet Journal of Rare Diseases, Vol 8, Iss 1, p 6 (2013)

Abstract Background Propionic acidemia is an inherited disorder caused by deficiency of propionyl-CoA carboxylase. Although it is one of the most frequent organic acidurias, information on the outcome of affected individuals is still limited. Study d

Externí odkaz: https://doaj.org/article/218c67c71a224b6abe087e07048905d0

Sengers syndrome and AGK-related disorders - Minireview of phenotypic variability and clinical outcomes in molecularly confirmed cases

Autor: Wu, Chen-Han Wilfred, Caha, Martin, Smoot, Leslie, Harris, David J., Roberts, Amy E., Sacharow, Stephanie, Bodamer, Olaf

Publikováno v: In Molecular Genetics and Metabolism July 2023 139(3)

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Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT)

Autor: Wu, Chen-Han Wilfred, Mann, Nina, Nakayama, Makiko, Connaughton, Dervla M., Dai, Rufeng, Kolvenbach, Caroline M., Kause, Franziska, Ottlewski, Isabel, Wang, Chunyan, Klämbt, Verena, Seltzsam, Steve, Lai, Ethan W., Selvin, Aravind, Senguttuva, Prabha, Bodamer, Olaf, Stein, Deborah R., El Desoky, Sherif, Kari, Jameela A., Tasic, Velibor, Bauer, Stuart B., Shril, Shirlee, Hildebrandt, Friedhelm

Publikováno v: In Genetics in Medicine October 2020 22(10):1673-1681