Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Ricarda Flöttmann"'
Autor:
Ricarda Flöttmann, Juliette Piard, Stefan Mundlos, Lyse Ruaud, Lionel Van Maldergem, Malte Spielmann, Fabienne Escande
Publikováno v:
European Journal of Medical Genetics
European Journal of Medical Genetics, 2020, 63, pp.103805-. ⟨10.1016/j.ejmg.2019.103805⟩
European Journal of Medical Genetics, Elsevier, 2020, 63, pp.103805-. ⟨10.1016/j.ejmg.2019.103805⟩
European Journal of Medical Genetics, 2020, 63, pp.103805-. ⟨10.1016/j.ejmg.2019.103805⟩
European Journal of Medical Genetics, Elsevier, 2020, 63, pp.103805-. ⟨10.1016/j.ejmg.2019.103805⟩
Split hand/foot malformation (SHFM) or ectrodactyly is a rare congenital disorder affecting limb development characterized by clinical and genetic heterogeneity. SHFM is usually inherited as an autosomal dominant trait with incomplete penetrance. Iso
Autor:
Aleksander Jamsheer, Stefan Mundlos, Laure Bosquillon de Jarcy, Anna Sowińska-Seidler, Lila Allou, Meredith Wilson, Barbara Oehl-Jaschkowitz, Magdalena Socha, Idit Maya, Roger Mountford, Denise Horn, Malte Spielmann, Wiebke Hülsemann, Johannes Wagner, Fernando Santos-Simarro, Bjørt K Kragesteen, Eva Klopocki, Pablo Lapunzina, Guntram Borck, Lars Wittler, Ingo Kurth, Denis Duboule, Alan Fryer, Deepthi De Silva, Bénédicte Mascrez, Ricarda Flöttmann, Sinje Geuer
Publikováno v:
GENETICS IN MEDICINE
PurposeCopy-number variants (CNVs) are generally interpreted by linking the effects of gene dosage with phenotypes. The clinical interpretation of noncoding CNVs remains challenging. We investigated the percentage of disease-associated CNVs in patien
Publikováno v:
European Journal of Medical Genetics. 60:421-425
Cenani-Lenz syndactyly syndrome (CLSS; MIM-212780) is a rare autosomal recessive limb malformation characterized by complete osseous fusion of all fingers and toes, disorganization of phalangeal elements and severe shortening of the radius and ulna.
Autor:
Seval Türkmen, Nilay Güneş, Malte Spielmann, Beyhan Tüysüz, Ricarda Flöttmann, Alexej Knaus, Stefan Mundlos
Publikováno v:
Molecular Syndromology. 8:318-324
We described a heterozygous de novo mutation (G434V) in the frizzled class receptor 2 (FZD2) gene in a patient with distinct facial features including hypertelorism, bilateral cleft lip/palate, short nose with a broad nasal bridge, microretrognathia,
Autor:
Ilja Demuth, Eamonn Sheridan, Zhuo Cheng, Stefan Mundlos, Denise Horn, Martin A. Mensah, Christine Jung, Solveig Schulz, Ricarda Flöttmann, Magdalena Danyel, Jean Tori Pantel, Felix Boschann, Nurulhuda Hajjir
Publikováno v:
Eur J Hum Genet
Variants in DONSON were recently identified as the cause of microcephaly, short stature, and limb abnormalities syndrome (MISSLA). The clinical spectra of MISSLA and Fanconi anaemia (FA) strongly overlap. For that reason, some MISSLA patients have be
Publikováno v:
American Journal of Medical Genetics Part A. 170:2372-2376
We describe two sibling fetuses with urogenital abnormalities detected by prenatal ultrasound, in which post-delivery examination showed split hand and foot malformation, and bilateral cleft lip and palate. These findings are consistent with ectrodac
Autor:
Rüstem Yilmaz, Janine Altmüller, Charles E. Schwartz, Naseebullah Kakar, Peter Nürnberg, Naeimeh Tayebi, Wing Lee Chan, James U. Bowie, Holger Thiele, Hans van Bokhoven, Izabela Harabula, Stefan Mundlos, Catherine Leettola, Ricarda Flöttmann, Malte Spielmann, Lars Wittler, Christian Kubisch, Gudrun Nürnberg, Nadine Sowada, Darío G. Lupiáñez, Denise Horn, Jamil Ahmad, Guntram Borck
Publikováno v:
Genome Research, 26, 2, pp. 183-91
Genome research, vol 26, iss 2
Genome Research, 26, 183-91
Genome Research
Genome research, vol 26, iss 2
Genome Research, 26, 183-91
Genome Research
Contains fulltext : 167787.pdf (Publisher’s version ) (Open Access) The CRISPR/Cas technology enables targeted genome editing and the rapid generation of transgenic animal models for the study of human genetic disorders. Here we describe an autosom
Autor:
Michael Achenbach, Matthias Albrecht, Marcus Benz, Renate Berger, Denise Both, Matthias Brockstedt, Uwe Büsching, Birgit Delisle, Rupert Dernick, Stefan Eber, Gabriele Ellsäßer, Ulrich Fegeler, Folkert Fehr, Ricarda Flöttmann, Regina Gaissmaier, Wilhelm Geilen, Maija Gempp, Wolfgang Gempp, Ulrike Gitmans, Ralf Gitmans, Margarete Große-Rhode, Herbert Grundhewer, Wolfram Hartmann, Michael Hermanussen, Gottfried Huss, Elke Jäger-Roman, Hermann-Josef Kahl, Thomas Kauth, Christian Kebelmann-Betzing, Heidi Keller, Gabriele Kewitz, Sabine Koch, Ingeborg Krägeloh-Mann, Christoph Kupferschmidt, Martin Lang, Otto Laub, Richard Michaelis, Manfred Mickley, Stephan Heinrich Nolte, Antonio Pizzulli, Paul L. Plener, Klaus Rodens, Hans-Georg Schlack, Ronald Schmid, Markus Schmitt, Michael Sigl-Kraetzig, Wolfram Singendonk, Klaus Skrodzki, Bernhard Stier, Harald Tegtmeyer-Metzdorf, Gabriele Trost-Brinkhues, Alexandra Wagner, Christoph Weiß-Becker, Burkhard Wermter, Stephan Wienhold
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bd10c2f56fa6019188b70cbc1aee22cc
https://doi.org/10.1016/b978-3-437-21281-9.01002-1
https://doi.org/10.1016/b978-3-437-21281-9.01002-1
Autor:
Rolf Habenicht, Silke Lohan, Klaus W. Kjaer, F. Muhammad, Stefan Mundlos, Hugo Abarca-Barriga, Ricarda Flöttmann, Shahid Mahmood Baig, Katta M. Girisha, Eva Klopocki, Malte Spielmann, Wiebke Hülsemann, Sandra C. Doelken, Siddaramappa J. Patil, Muhammad Wajid
Publikováno v:
Clinical Genetics. 86:318-325
Laurin-Sandrow syndrome (LSS) is a rare autosomal dominant disorder characterized by polysyndactyly of hands and/or feet, mirror image duplication of the feet, nasal defects, and loss of identity between fibula and tibia. The genetic basis of LSS is
Autor:
Dieter Schäfer, Kerstin Rhiem, Ricarda Flöttmann, Nicola Dikow, Silke Zachariae, Alfons Meindl, Christine Fischer, Dorothea Gadzicki, Ira Schwaab, Christiana Kartsonaki, Irmgard Debatin, Christoph Engel, Tiemo Grimm, Antonis C. Antoniou, Rita K. Schmutzler, Nasim Mavaddat, Hansjörg Plendl, Nils Rahner, Friedrich Stock, Karoline Kuchenbäcker, Evelin Schröck, Judit Horvath, Brigitte Schlegelberger
Publikováno v:
Journal of Medical Genetics. 50:360-367
Background Risk prediction models are widely used in clinical genetic counselling. Despite their frequent use, the genetic risk models BOADICEA, BRCAPRO, IBIS and extended Claus model (eCLAUS), used to estimate BRCA1/2 mutation carrier probabilities,