Zobrazeno 1 - 10
of 67
pro vyhledávání: '"Martin Hergersberg"'
Publikováno v:
Hemoglobin. 34:327-331
We describe a heterozygosity for a new missense mutation on the α1-globin gene of an 18-year-old woman of Portuguese ancestry with severe hypochromic anemia and iron deficiency. Hemoglobin (Hb) analysis by high performance liquid chromatography (HPL
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c08e5b23f69c623e1b33107076563a38
https://doi.org/10.3109/03630269.2010.483960
https://doi.org/10.3109/03630269.2010.483960
Autor:
Andreas R. Huber, Peter Itin, E. Hohenstein, S. K. Tyring, T. Bregenzer, Martin Hergersberg, M. Streit, Peter Rady
Publikováno v:
Dermatology. 218:114-118
Background: Epidermodysplasia verruciformis (EV) is a rare autosomal-recessive disorder characterized by widespread and persistent infection with human papilloma virus (HPV) and a risk of malignant degeneration. Most cases of EV are caused by mutatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6969e362152b37471dea2ac22c5dd451
https://doi.org/10.1159/000174084
https://doi.org/10.1159/000174084
A NOVEL COMPLEX MUTATION EVENT IN THE PERIPHERIN/RDS GENE IN A FAMILY WITH RETINAL PATTERN DYSTROPHY
Autor:
Isaak Schipper, Bojan Pajic, Ernst R. Büchi, Christoph KRYENBüHL, Maike Weigell-Weber, Martin Hergersberg, Roland Spiegel
Publikováno v:
Retina. 26:947-953
PURPOSE To report a complex mutation in the peripherin/RDS gene found in a family in whom retinal pattern dystrophy is segregating as an autosomal dominant trait. METHODS Clinical data were collected from family members of a large Swiss family affect
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fdb9c615784d6efb742abf43d19e59c8
https://doi.org/10.1097/01.iae.0000250010.60908.e3
https://doi.org/10.1097/01.iae.0000250010.60908.e3
Publikováno v:
Archives of Biochemistry and Biophysics. 447:68-79
By germline insertion, a long terminal repeat (LTR) of an intracisternal A-particle type IAP retrovirus has overtaken the transcriptional control of the rat oncomodulin (OM) gene, which codes for a high affinity Ca2+-binding protein with modulatory c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cd6acb52413e6085bb915ad3cd81eff
https://doi.org/10.1016/j.abb.2006.01.006
https://doi.org/10.1016/j.abb.2006.01.006
Publikováno v:
Journal of Inherited Metabolic Disease. 27:625-631
Summary: Acute intermittent porphyria (AIP) is an inherited disorder in the haem biosynthetic pathway caused by a partial deficiency of porphobilinogen (PBG) deaminase. To date, more than 200 different mutations have been identified in the PBG deamin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46f80afc2ad3240e16fab05084703f87
https://doi.org/10.1023/b:boli.0000042936.20691.ad
https://doi.org/10.1023/b:boli.0000042936.20691.ad
Publikováno v:
Therapeutische Umschau. 61:83-91
Die Entwicklungen in verschiedenen Bereichen der diagnostischen Medizin haben in der hämatologischen Diagnostik zu Synergien zwischen früher unabhängig voneinander arbeitenden Fachbereichen geführt. Der vorliegende Artikel gibt einerseits einen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7a179f4e39723901cd7748ff2b915633
https://doi.org/10.1024/0040-5930.61.2.83
https://doi.org/10.1024/0040-5930.61.2.83
Autor:
Martin Hergersberg, Jens Pahnke, Benno Röthlisberger, Valerie Treyer, Beat M. Frey, Spyros Kollias, Hans H. Jung, David Russo, Marco Vogt
Publikováno v:
Transfusion. 43:928-938
BACKGROUND: The X-linked McLeod neuroacanthocytosis syndrome is a multisystem disorder with hematologic, neuromuscular, and central nervous system (CNS) manifestations. All carriers of the McLeod blood group phenotype examined so far had at least sub
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5a6a6def9806ba9c9cc245dc8ba30bf6
https://doi.org/10.1046/j.1537-2995.2003.t01-1-00434.x
https://doi.org/10.1046/j.1537-2995.2003.t01-1-00434.x
Autor:
Magdalena Benetkiewicz, Kiran Kumar Mantripragada, Donna G. Albertson, Britt-Inger Johnsson, Jan P. Dumanski, Charlotte Thyr, Teresita Díaz de Ståhl, Koichi Ichimura, Ian Dunham, David Beare, Nils Mandahl, Anna Wedell, Daniel Pinkel, John E. Collins, Uwe Menzel, Haider Ali, Elisabeth Blennow, Martin Hergersberg, Isabel Tapia-Páez, V. Peter Collins, Carina Hirvelä, Ingegerd Fransson, Patrick G. Buckley, Cecilia de Bustos, Magnus Rosenquist, Roger S. Lasken, Caroline Jarbo, A. Fawad Faruqi, Birgitta Sinder Wilén, Boris C. Bastian, Carl E.G. Bruder
Publikováno v:
Karolinska Institutet
Scopus-Elsevier
Scopus-Elsevier
We have constructed the first comprehensive microarray representing a human chromosome for analysis of DNA copy number variation. This chromosome 22 array covers 34.7 Mb, representing 1.1% of the genome, with an average resolution of 75 kb. To demons
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2195525684a6e005c9b483c51f751af6
https://doi.org/10.1093/hmg/11.25.3221
https://doi.org/10.1093/hmg/11.25.3221
Autor:
Hervé Puy, Martin Hergersberg, Jean Charles Deybach, Elisabeth I. Minder, Xiaoye Schneider-Yin, Urszula B. Rüfenacht, Macé M. Schuurmans, David E. Goldgar
Publikováno v:
Human Heredity. 54:69-81
Acute intermittent porphyria (AIP) is a low-penetrant autosomal dominant disorder caused by mutations in the porphobilinogen deaminase gene (PBGD). Nearly 60% of all Swiss AIP patients carry a nonsense mutation W283X (G7916→A). In France, the preva
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc5d27ff5659018b40fcd8530f8b235c
https://doi.org/10.1159/000067665
https://doi.org/10.1159/000067665