Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Sandra C. Doelken"'
Autor:
Sandra C. Doelken, Sebastian Köhler, Christopher J. Mungall, Georgios V. Gkoutos, Barbara J. Ruef, Cynthia Smith, Damian Smedley, Sebastian Bauer, Eva Klopocki, Paul N. Schofield, Monte Westerfield, Peter N. Robinson, Suzanna E. Lewis
Publikováno v:
Disease Models & Mechanisms, Vol 6, Iss 2, Pp 358-372 (2013)
SUMMARY Numerous disease syndromes are associated with regions of copy number variation (CNV) in the human genome and, in most cases, the pathogenicity of the CNV is thought to be related to altered dosage of the genes contained within the affected s
Externí odkaz:
https://doaj.org/article/8d289e5bf42241ceb794222e81c08d5a
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::753f2195bd380152b1a90759e2dcb907
https://doi.org/10.1111/cge.12352
https://doi.org/10.1111/cge.12352
Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe
Autor:
Alexandra Deichsel, Guntram Borck, Christian Bassir, Sandra C. Doelken, Eva Klopocki, Jamil Ahmad, Ulrike Wille, Thomas D. Mueller, Naseebullah Kakar, Christian Kubisch, Stefan Mundlos, Petra Seemann, Randi Koll, Luitgard Graul-Neumann, Valérie Cormier-Daire
Publikováno v:
European Journal of Human Genetics. 22:726-733
Acromesomelic chondrodysplasias (ACDs) are characterized by disproportionate shortening of the appendicular skeleton, predominantly affecting the middle (forearms and forelegs) and distal segments (hands and feet). Here, we present two consanguineous
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18b4123caa8a69268b99f9b9ddda1361
https://doi.org/10.1038/ejhg.2013.222
https://doi.org/10.1038/ejhg.2013.222
Autor:
Bernd Timmermann, Marten Jäger, Peter Hansen, Denise Horn, Peter Krawitz, Mareen Schmidt-von Kegler, Stefan Mundlos, Sandra C. Doelken, Gundula Leschik, Florian Wagner, Petra Seemann, Daniel M. Ibrahim, Peter N. Robinson, Asita C. Stiege, Jochen Hecht, Till Scheuer, Catrin Janetzki, Christian Rödelsperger
Publikováno v:
Genome Research
Europe PubMed Central
Europe PubMed Central
Gene regulation by transcription factors (TFs) determines developmental programs and cell identity. Consequently, mutations in TFs can lead to dramatic phenotypes in humans by disrupting gene regulation. To date, the molecular mechanisms that actuall
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8995c4a5b5a7d9392dad06ce30689ae2
https://doi.org/10.1101/gr.157610.113
https://doi.org/10.1101/gr.157610.113
Autor:
Luitgard Graul-Neumann, Patrick Hundsdoerfer, Wencke Weber-Ferro, Karl Seeger, Sandra C. Doelken, Eva Klopocki
Publikováno v:
American Journal of Medical Genetics Part A. 161:218-224
Distal 15q25.2 microdeletions have recently been reported as a copy number variation (CNV) locus for neurodevelopmental and neuropsychiatric disorders with variable outcome. In addition, more proximal microdeletions of 15q25.2 have been described as
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a22d888dc3c6ab491f419f493f6d8acf
https://doi.org/10.1002/ajmg.a.35695
https://doi.org/10.1002/ajmg.a.35695
Publikováno v:
Human Mutation. 33:1333-1339
Neurological disorders comprise one of the largest groups of human diseases. Due to the myriad symptoms and the extreme degree of clinical variability characteristic of many neurological diseases, the differential diagnosis process is extremely chall
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ade76560b5bf0dabd86f72955f999ef6
https://doi.org/10.1002/humu.22112
https://doi.org/10.1002/humu.22112
Autor:
Simone Heidemann, Norbert Arnold, Dieter Niederacher, Susanne Morlot, Walter Jonat, Sandra C. Doelken, Christine Fischer, Brigitte Schlegelberger, Nicola Dikow, Barbara Fischer, Lana Harder, Christoph Engel, Rita C. Schmutzler, Timm O. Goecke
Publikováno v:
Breast Cancer Research and Treatment. 134:1229-1239
Double heterozygosity for disease-causing BRCA1 and BRCA2 mutations is a very rare condition in most populations. Here we describe genetic and clinical data of eight female double heterozygotes (DH) for BRCA1 and BRCA2 mutations found in a cohort of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e2d12ba7edfacfc9478e1f4144d0d9f
https://doi.org/10.1007/s10549-012-2050-4
https://doi.org/10.1007/s10549-012-2050-4
Autor:
Ingo Kurth, Denise Horn, Outi Mäkitie, Eva Klopocki, Regina Célia Mingroni Netto, Anna Rajab, Charlotte W. Ockeloen, Silke Lohan, Hitesh Shah, Renata Soares Thiele de Aguiar, Maja Hempel, Matthew L. Warman, Aleksander Jamsheer, Rolf Habenicht, Karina Lezirovitz, Stylianos E. Antonarakis, Stefan Mundlos, Uppala Radhakrishna, Sandra C. Doelken, Koenraad Devriendt, Mohammed Naveed, Sigmar Stricker, Ulrike Kordaß
Publikováno v:
Journal of Medical Genetics (London)
Journal of Medical Genetics, Vol. 49, No 2 (2012) pp. 119-25
Journal of Medical Genetics, 49, 119-25
Journal of Medical Genetics, 49, 2, pp. 119-25
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Journal of medical genetics
Journal of Medical Genetics, Vol. 49, No 2 (2012) pp. 119-25
Journal of Medical Genetics, 49, 119-25
Journal of Medical Genetics, 49, 2, pp. 119-25
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Journal of medical genetics
BACKGROUND: Split-hand/foot malformation (SHFM)-also known as ectrodactyly-is a congenital disorder characterised by severe malformations of the distal limbs affecting the central rays of hands and/or feet. A distinct entity termed SHFLD presents wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3be2f2abbe7182bf4c4af1a5db89f80f
https://hdl.handle.net/2066/110979
https://hdl.handle.net/2066/110979
Autor:
Claus-Eric Ott, Denise Horn, Sebastian Köhler, Peter Krawitz, S. Mundlos, Sebastian Bauer, Peter N. Robinson, Sandra C. Doelken
Publikováno v:
Medizinische Genetik. 22:221-228
Zusammenfassung Die präzise Beschreibung phänotypischer Auffälligkeiten ist für die klinische Diagnostik und für unser wissenschaftliches Verständnis von Erkrankungen von grundlegender Bedeutung. Derzeit sind mehrere tausend hereditäre Erkrank
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1af802a5c1eec77fb905e071a80a4cd4
https://doi.org/10.1007/s11825-010-0215-2
https://doi.org/10.1007/s11825-010-0215-2
Autor:
Peter N. Robinson, Francisco M. Couto, Damian Smedley, Gareth Baynam, Sandra C. Doelken, Tudor Groza, Nigel Collier, Anika Oellrich, Sebastian Köhler, Andreas Zankl
Publikováno v:
Database: The Journal of Biological Databases and Curation
Groza, T, Köhler, S, Doelken, S, Collier, N, Oellrich, A, Smedley, D, Couto, F M, Baynam, G, Zankl, A & Robinson, P N 2015, ' Automatic concept recognition using the Human Phenotype Ontology reference and test suite corpora ', DATABASE, vol. 2015, pp. bav005 . https://doi.org/10.1093/database/bav005
Groza, T, Köhler, S, Doelken, S, Collier, N, Oellrich, A, Smedley, D, Couto, F M, Baynam, G, Zankl, A & Robinson, P N 2015, ' Automatic concept recognition using the Human Phenotype Ontology reference and test suite corpora ', DATABASE, vol. 2015, pp. bav005 . https://doi.org/10.1093/database/bav005
Concept recognition tools rely on the availability of textual corpora to assess their performance and enable the identification of areas for improvement. Typically, corpora are developed for specific purposes, such as gene name recognition. Gene and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e32e4585771bf8cc2ddfbf1da8bca218
https://pubmed.ncbi.nlm.nih.gov/25725061
https://pubmed.ncbi.nlm.nih.gov/25725061