Zobrazeno 1 - 10
of 75
pro vyhledávání: '"Erwin, Petek"'
Autor:
Dana A. Muin, Martina Kollmann, Jasmin Blatterer, Gregor Hoermann, Peter W. Husslein, Ingrid Lafer, Erwin Petek, Thomas Schwarzbraun
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-8 (2021)
Abstract To describe the prevalence and spectrum of cardio-pathogenic variants in singleton fetuses after unexplained intrauterine fetal death (IUFD). DNA from post-mortem fibroblastic tissue samples of 16 fetuses after unexplained IUFD was retrieved
Externí odkaz:
https://doaj.org/article/7c8951d49a3b43fd88e49c8a1aa45730
Autor:
Muhammad Z. Ali, Jasmin Blatterer, Muzammil A. Khan, Erich Schaflinger, Erwin Petek, Safeer Ahmad, Ejazullah Khan, Christian Windpassinger
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 2, Pp n/a-n/a (2020)
Abstract Background Xeroderma pigmentosum (XP) is a rare genetic disorder, which is characterized by hyper‐sensitivity to solar ultraviolet (UV) radiation. Clinical consequences of sun exposure are skin lesions and an increased risk of developing s
Externí odkaz:
https://doaj.org/article/b04a180aad774fc58ef2969f90c4eb92
Autor:
Christian Enzinger, Jasmin Blatterer, Christian Windpassinger, Saadullah Khan, Klaus Wagner, Safeer Ahmad, Muhammad Zeeshan Ali, Muzammil Ahmad Khan, Erwin Petek, Syed Khizar Shah, Sundas Taj, Beatrice A. Brugger, Muhammad Muzammal
Publikováno v:
Metabolic Brain Disease
Background L-2-hydroxyglutaric aciduria (L2HGA) is a rare neurometabolic disorder that occurs due to accumulation of L-2-hydroxyglutaric acid in the cerebrospinal fluid (CSF), plasma and urine. The clinical manifestation of L2HGA includes intellectua
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d01d6b7426a29d2671248664941ab338
http://europepmc.org/articles/PMC8748340
http://europepmc.org/articles/PMC8748340
Autor:
Erich, Schaflinger, Jasmin, Blatterer, Aiman Saeed, Khan, Lukas, Kaufmann, Lisa, Auinger, Benjamin, Tatrai, Sumra Wajid, Abbasi, Muhammad, Zeeshan Ali, Ansar Ahmad, Abbasi, Ali, Al Kaissi, Erwin, Petek, Klaus, Wagner, Muzammil, Ahmad Khan, Christian, Windpassinger
Publikováno v:
Gene. 833:146582
Biallelic mutations in ZMPSTE24 are known to be associated with autosomal recessive mandibuloacral dysplasia with type B lipodystrophy (MADB) and lethal restrictive dermopathy (RD), respectively. Disease manifestation is depending on the remaining en
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::345465b1596783ede7d238f35be65a14
https://doi.org/10.1016/j.gene.2022.146582
https://doi.org/10.1016/j.gene.2022.146582
Autor:
Gregor Hoermann, Erwin Petek, Jasmin Blatterer, Dana A. Muin, Ingrid Lafer, Thomas Schwarzbraun, M Kollmann, Peter Husslein
Publikováno v:
Scientific Reports
Scientific Reports, Vol 11, Iss 1, Pp 1-8 (2021)
Scientific Reports, Vol 11, Iss 1, Pp 1-8 (2021)
To describe the prevalence and spectrum of cardio-pathogenic variants in singleton fetuses after unexplained intrauterine fetal death (IUFD). DNA from post-mortem fibroblastic tissue samples of 16 fetuses after unexplained IUFD was retrieved at two t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0489d837428a63c56b5b3f88457fb327
http://europepmc.org/articles/PMC7991630
http://europepmc.org/articles/PMC7991630
Publikováno v:
BioTechniques, Vol 23, Iss 1, Pp 72-77 (1997)
Externí odkaz:
https://doaj.org/article/a170a594133b4630847a754eb93ac198
Autor:
Itezaz Younis, Saadullah Khan, Muzammil Ahmad Khan, Christian Windpassinger, Noor Muhammad, Magdalena Wiener, Safdar Abbas, Sundus Taj, Saddam Hussain, Erich Schaflinger, Jamshaid Ahmed, Erwin Petek, Muhammad Abbas, Muhammad Salim
Publikováno v:
JPMA. The Journal of the Pakistan Medical Association. 69(12)
Objective To investigate the genetic factor responsible for causing microcephaly and determine allelic heterogeneity of Abnormal spindle microtubule gene. Methods The genetic study was conducted at the Kohat University of Science and Technology, Koha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::726cd7eb02ed087850e23b9d7ea68acc
https://pubmed.ncbi.nlm.nih.gov/31853109
https://pubmed.ncbi.nlm.nih.gov/31853109
Autor:
Alexandra Höggerl, Erwin Petek, SH Enzelsberger, Elisabeth Radler, Thomas Ebner, Omar Shebl, Peter Oppelt, Richard Bernhard Mayer
Publikováno v:
Archives of Gynecology and Obstetrics. 296:1199-1205
Recently, guidelines on the annotation of dynamic human embryo monitoring recommended screening for the presence of planar blastomere arrangement at the 4-cell stage. This observational study was set up in order to analyze whether developmental kinet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c3202918c6d5a364370bbd5d8bfcf66
https://doi.org/10.1007/s00404-017-4531-5
https://doi.org/10.1007/s00404-017-4531-5
Autor:
Muzammil Ahmad Khan, Safeer Ahmad, Erwin Petek, Christian Windpassinger, Ejazullah Khan, Erich Schaflinger, Muhammad Zeeshan Ali, Jasmin Blatterer
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 8, Iss 2, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine, Vol 8, Iss 2, Pp n/a-n/a (2020)
Background Xeroderma pigmentosum (XP) is a rare genetic disorder, which is characterized by hyper‐sensitivity to solar ultraviolet (UV) radiation. Clinical consequences of sun exposure are skin lesions and an increased risk of developing skin cance
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::152e84ddfebc8cd82b1fce4c0b84b1f4
https://pubmed.ncbi.nlm.nih.gov/31923348
https://pubmed.ncbi.nlm.nih.gov/31923348
Publikováno v:
Methods in molecular biology (Clifton, N.J.). 1885
Autosomal chromosome aneuploid pregnancies that survive to term, namely, trisomies 13, 18, and 21, account for 89% of chromosome abnormalities with a severe phenotype. They are normally detected by full karyotype analysis of cultured cells. The avera
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::e0db924e19864d7db4a84c6a9c7f198e
https://pubmed.ncbi.nlm.nih.gov/30506196
https://pubmed.ncbi.nlm.nih.gov/30506196