Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Stephanie Andres"'
Autor:
Sarah Jesse, Hans-Peter Müller, Hans-Jürgen Huppertz, Stephanie Andres, Albert C. Ludolph, Michael Schön, Tobias M. Boeckers, Jan Kassubek
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-9 (2023)
Abstract Background Phelan-McDermid syndrome (PMS) is a rare multisystem disease with global developmental delay and autistic features. Genetically, the disease is based on a heterozygous deletion of chromosome 22q13.3 with involvement of at least pa
Externí odkaz:
https://doaj.org/article/e2022822c14d4e5e9122df5ffd40a849
Autor:
Hana Sahinbegovic, Stephanie Andres, Sabine Langer-Freitag, Aspasia Divane, Fotini Ieremiadou, Senad Mehmedbasic, Aida Catic
Publikováno v:
Molecular Cytogenetics, Vol 15, Iss 1, Pp 1-7 (2022)
Abstract Background Noninvasive prenatal testing (NIPT) is the most recent modality widely used in prenatal diagnostics. Commercially available NIPT has high sensitivity and specificity for the common fetal chromosomal aneuploidies. As future advance
Externí odkaz:
https://doaj.org/article/585fd1fefd714f188a303a5cd0227a6d
Autor:
Sarah Jesse, Lukas Kuhlmann, Laura S. Hildebrand, Henriette Magelssen, Martina Schmaus, Beate Timmermann, Stephanie Andres, Rainer Fietkau, Luitpold V. Distel
Publikováno v:
Cells, Vol 12, Iss 5, p 820 (2023)
Phelan-McDermid syndrome is an inherited global developmental disorder commonly associated with autism spectrum disorder. Due to a significantly increased radiosensitivity, measured before the start of radiotherapy of a rhabdoid tumor in a child with
Externí odkaz:
https://doaj.org/article/51a785d98bda4e2984444beba593f772
Publikováno v:
Frontiers in Genetics, Vol 9 (2018)
Introduction: Microdeletions in the chromosomal region 2q34 and its neighboring regions lead to a phenotypic spectrum including autism, intellectual disability, and epilepsy. Up to now, only few affected patients have been reported. Therefore, the ge
Externí odkaz:
https://doaj.org/article/f1d03c22a1f642a7af1c898042d8c8f8
Autor:
A.M. van Eeghen, D. Stemkens, José Ramón Fernández-Fructuoso, A. Maruani, K. Hadzsiev, I.D.C. van Balkom, C.M.W. Gaasterland, M.J. Klein Haneveld, Klea Vyshka, A. Hugon, Norma Alhambra, Britt-Marie Anderlid, Stephanie Andres, Emmelien Aten, Rui Barbosa Guedes, Maria C. Bonaglia, Thomas Bourgeron, Monica Burdeus-Olavarrieta, Maya J. Carbin, Jennifer Cooke, Robert J. Damstra, Irenaeus F.M. de Coo, Stella Di Domenico, D. Gareth Evans, Andreas M. Grabrucker, Cecilia Gunnarson, Kinga Hadzsiev, Raoul C. Hennekam, Sarah Jesse, Sarina G. Kant, Sylvia A. Koza, Els Kuiper, Annemiek M. Landlust, Pablo Lapunzina, Eva Loth, Sahar Mansour, Anna Maruani, Teresa Mattina, Aušra Matulevičienė, Julián Nevado, Susanne Parker, Sandra Robert, Carlo Sala, Antonia San José Cáceres, Michael Schön, Kamilė Šiaurytė, Daphne Stemkens, Dominique Stiefsohn, Ann Swillen, Anne C. Tabet, Roberto Toro, Alison Turner, Ingrid D.C. van Balkom, Griet van Buggenhout, Agnies M. van Eeghen, Conny M.A. van Ravenswaaij-Arts, Sabrina van Weering, Chiara Verpelli, Stephane Vignes, Annick Vogels, Margreet Walinga
Publikováno v:
European Journal of Medical Genetics. 66:104747
Autor:
Theresa Brunet, Riccardo Berutti, Veronika Dill, Judith S Hecker, Daniela Choukair, Stephanie Andres, Marcus Deschauer, Janine Diehl-Schmid, Martin Krenn, Gertrud Eckstein, Elisabeth Graf, Thomas Gasser, Tim M Strom, Julia Hoefele, Katharina S Götze, Thomas Meitinger, Matias Wagner
Publikováno v:
Hum. Mol. Genet. 31, 2386-2395 (2022)
Human molecular genetics 31(14), 2386-2395 (2022). doi:10.1093/hmg/ddac034
Human molecular genetics 31(14), 2386-2395 (2022). doi:10.1093/hmg/ddac034
Clonal hematopoiesis because of somatic mutations in hematopoietic stem/progenitor cells is an age-related phenomenon and commonly observed when sequencing blood DNA in elderly individuals. Several genes that are implicated in clonal hematopoiesis ar
Autor:
Norma Timoney, Maja Hempel, Angela F. Davies, Camille Cenni, Muriel Holder-Espinasse, Ellen Thomas, Tim M. Strom, Alessandra Frigiola, Malcolm Logan, Stephanie Andres
Publikováno v:
European journal of medical genetics. 64(7)
Holt-Oram syndrome (HOS) is a rare, autosomal dominant heart-hand syndrome caused by mutations in the TBX5 gene. A wide spectrum of TBX5 mutations have been reported previously, most resulting in a null allele leading to haploinsufficiency. TBX5 gene
Autor:
Stephanie Andres, Thomas Meitinger, Christine Makowski, Julia Hoefele, Kirsten I. Beitzel, Dominik S. Westphal
Publikováno v:
Gene. 616:41-44
Microdeletion 1q44 on the long arm of chromosome 1 leads to a phenotype that includes microcephaly, seizure, agenesis or hypogenesis of the corpus callosum, polydactyly, congenital heart defects and severe developmental delay along with characteristi
Publikováno v:
Nephrology Dialysis Transplantation. 34
Autor:
Annette G. Hansen, Steffen Thiel, Frederik Dagnæs-Hansen, Lisbeth Jensen, Ida B. Thøgersen, Jan J. Enghild, Stephanie Andres, Rasmus Pihl, Konrad Oexle
Publikováno v:
Pihl, R, Jensen, L, Hansen, A G, Thøgersen, I B, Andres, S, Dagnæs-Hansen, F, Oexle, K, Enghild, J J & Thiel, S 2017, ' Analysis of Factor D Isoforms in Malpuech-Michels-Mingarelli-Carnevale Patients Highlights the Role of MASP-3 as a Maturase in the Alternative Pathway of Complement ', Journal of Immunology, vol. 199, no. 6, pp. 2158-2170 . https://doi.org/10.4049/jimmunol.1700518
J. Immunol. 199, 2158-2170 (2017)
J. Immunol. 199, 2158-2170 (2017)
Factor D (FD), which is also known as adipsin, is regarded as the first-acting protease of the alternative pathway (AP) of complement. It has been suggested that FD is secreted as a mature enzyme that does not require subsequent activation. This view
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::380e1a91d272e2b726d9499a69ec5947
https://pure.au.dk/portal/da/publications/analysis-of-factor-d-isoforms-in-malpuechmichelsmingarellicarnevale-patients-highlights-the-role-of-masp3-as-a-maturase-in-the-alternative-pathway-of-complement(495ff8ec-dd1b-4b4c-84d1-08b06b312ddb).html
https://pure.au.dk/portal/da/publications/analysis-of-factor-d-isoforms-in-malpuechmichelsmingarellicarnevale-patients-highlights-the-role-of-masp3-as-a-maturase-in-the-alternative-pathway-of-complement(495ff8ec-dd1b-4b4c-84d1-08b06b312ddb).html