Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Harald Gaspar"'
Autor:
Bryn D. Webb, Tamiesha Frempong, Thomas P. Naidich, Harald Gaspar, Ethylin Wang Jabs, Janet C. Rucker
Publikováno v:
Tremor and Other Hyperkinetic Movements, Vol 4 (2014)
Background: Moebius syndrome is a rare disorder with minimum clinical criteria of congenital facial weakness in association with impairment in abduction of one or both eyes. Mirror movements are not known to be associated with Moebius syndrome. Case
Externí odkaz:
https://doaj.org/article/89c946c70ddc4a5585902ef86cde63cb
Akademický článek
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Autor:
Kerstin Reicherter, Harald Gaspar, Rolf E. Brenner, Guntram Borck, Heinz Gabriel, Bernd Lutz, Rita Taurman, Simon Lühl
Publikováno v:
American Journal of Medical Genetics Part A. 173:2289-2292
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::569bda64953ffddc9b126a29d41210fe
https://doi.org/10.1002/ajmg.a.38286
https://doi.org/10.1002/ajmg.a.38286
Autor:
Sofie Symoens, Bert Callewaert, Jean-Luc Bresson, Sahar Mansour, Chi-Ting Su, Meghan K. Mac Neal, Elaine C. Davis, Joseph G. H. Lee, Ketil Heimdal, Gérald Pierard, Katrina Prescott, Salome De Almeida, Paul Coucke, Anne De Paepe, Tim Van Damme, Bianca Schulz, Zsolt Urban, Uwe Kornak, Aicha Salhi, Lionel Van Maldergem, Olivier Vanakker, Sheila Unger, Philip Vlummens, Fransiska Malfait, Maria E. Gosendi, Harald Gaspar, Frank C. Sciurba, Suneeta Madan-Khetarpal
Publikováno v:
Human Mutation, vol. 34, no. 1, pp. 111-121
Autosomal recessive cutis laxa type I (ARCL type I) is characterized by generalized cutis laxa with pulmonary emphysema and/or vascular complications. Rarely, mutations can be identified in FBLN4 or FBLN5. Recently, LTBP4 mutations have been implicat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad07a58de5bc9fb8a2fd35c015efb4d8
https://doi.org/10.1002/humu.22165
https://doi.org/10.1002/humu.22165
Autor:
Anita Y. Voigt, Peter Schirmacher, Magnus von Knebel Doeberitz, Mirjam Tariverdian, Matthias Kloor, Hendrik Bläker, Harald Gaspar, Cathrin Huth, Gergana Bozukova, Christina Evers
Publikováno v:
Modern Pathology. 25:911-916
Germline deletions affecting the epithelial cell adhesion molecule (EPCAM) gene lead to silencing of MSH2 and cause Lynch syndrome. We have recently reported that lack of EPCAM expression occurs in many, but not all tumors from Lynch syndrome patient
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c347967386c07124382ae7d03672e481
https://doi.org/10.1038/modpathol.2012.30
https://doi.org/10.1038/modpathol.2012.30
Autor:
Nicola Dikow, Jens-Peter Schenk, A. Behnecke, Ute Moog, M. Elsässer, C. Flechtenmacher, Harald Gaspar, Bernd Beedgen
Publikováno v:
Der Gynäkologe. 45:376-382
Die Mehrzahl der seltenen Erkrankungen ist genetisch bedingt und manifestiert sich im Kindesalter, moglicherweise auch bereits pranatal. Ihre Diagnostik ist hochspezialisiert und erfordert ein interdisziplinares Vorgehen in enger Abstimmung. Anhand v
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7f1d7c32dad19320bd460bc9e2efb1ab
https://doi.org/10.1007/s00129-011-2907-3
https://doi.org/10.1007/s00129-011-2907-3
Autor:
Nina Hirt, Harald Gaspar, Katja Eggermann, Sabine Rudnik-Schöneborn, Judith Fischer, Sonja Hyrenbach, Andreas Busche, Johann Lambeck
Publikováno v:
Neurology. 84(15)
Charcot-Marie-Tooth disease type 1 A (CMT1A, OMIM #118220) and hereditary neuropathy with liability to pressure palsies (HNPP or tomaculous neuropathy, OMIM #162500) are autosomal dominantly inherited neuropathies caused by genomic rearrangements on
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72cba9167341d89b492772a3406c5dc7
https://pubmed.ncbi.nlm.nih.gov/25795643
https://pubmed.ncbi.nlm.nih.gov/25795643
Autor:
Bryn D. Webb, Tamiesha Frempong, Janet C. Rucker, Harald Gaspar, Thomas P. Naidich, Ethylin Wang Jabs
Congenital facial weakness is present in a heterogeneous group of conditions. Among them is Moebius syndrome, which has been defined as a disorder with congenital, non-progressive facial weakness and limited abduction of one or both eyes. It is typic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea0ba08e8683ea31829ef1d9275889eb
https://europepmc.org/articles/PMC3959556/
https://europepmc.org/articles/PMC3959556/
Autor:
Alma Kuechler, Johannes W.G. Janssen, Teresa Neuhann, Hartmut Engels, Ute Moog, Martina Kreiss-Nachtsheim, Koenraad Devriendt, Bianca Maas, Christian Netzer, Anna Jauch, Harald Gaspar, Katrin Hinderhofer, Lutz Garbes, Kristina Casteels, Udo Koehler, Nicola Dikow
Publikováno v:
American journal of medical genetics. Part A. (9)
Loss-of-function mutations of NSD1 and 5q35 microdeletions encompassing NSD1 are a major cause of Sotos syndrome (Sos), which is characterized by overgrowth, macrocephaly, characteristic facies, and variable intellectual disability (ID). Microduplica
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::083a1ecefeb981ba7339463ca997217c
https://pubmed.ncbi.nlm.nih.gov/23913520
https://pubmed.ncbi.nlm.nih.gov/23913520
Autor:
Martina Kadmon, Ute Moog, Christian Sutter, Monika Keller, Christina Evers, Gergana Bozukova, Harald Gaspar, Matthias Kloor
Publikováno v:
Familial cancer. 11(3)
Infantile and childhood hepatoblastoma (HB) occurs more frequently in children with hereditary predisposition to familial adenomatous polyposis (FAP) than in the general population. The occurrence of HB in two infant siblings is reported. The sister
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40776010cf5b603810195791d45916ec
https://pubmed.ncbi.nlm.nih.gov/22692730
https://pubmed.ncbi.nlm.nih.gov/22692730