Zobrazeno 1 - 10
of 71
pro vyhledávání: '"Ferda, Percin"'
Autor:
Erkan Yurtcu, Pinar Calis, Gülsüm Kayhan, Hasan Hüseyin Kazan, Tuğrul Kaymak, Merih Bayram, Mustafa N. Ilhan, Sezen Guntekin Ergun, Gamze Özçürümez Bilgili, Deniz Karcaaltincaba, Halis Özdemir, Ferda Percin, Meral Yirmibeş Karaoğuz, Mehmet Ali Ergun
Publikováno v:
Turkish Journal of Medical Sciences
Background/aim: Prenatal diagnosis is vital to obtain healthy generation for risky pregnancies. There have been several approaches, some of which are routinely applied in clinics to evaluate the possible prenatal deficiencies and/or diseases. In the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe80e8e1fbf8ead9cf50cfdcccc1c5c8
https://doi.org/10.3906/sag-2009-347
https://doi.org/10.3906/sag-2009-347
Autor:
Melda Tas, Mervenur Kurtulus, Elı̇f Keles Gulnerman, Canan Turkyilmaz, Ferda Percin, Ebru Ergenekon, Esin Koc
Hypoxic-ischemic encephalopathy (HIE) is one of the substantial causes of developmental-cognitive disability in neonates. In this early period, it is difficult to diagnose accompanying or predisposing genetic diseases in HIE patients. Herein, we pres
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9dacd6f1e6864c688741d7babb552da3
https://avesis.gazi.edu.tr/publication/details/4107e8f1-930a-4cb4-b145-f860fa9235e0/oai
https://avesis.gazi.edu.tr/publication/details/4107e8f1-930a-4cb4-b145-f860fa9235e0/oai
Autor:
Ferda Percin, Göksun Ayvaz, Cigdem Ozkan, Mehmet Muhittin Yalcin, Nuri Cakir, Alev Eroglu Altinova, Ayhan Karakoç, Mujde Akturk
Publikováno v:
İstanbul Kuzey Klinikleri, Vol 6, Iss 3, Pp 308-311 (2019)
Northern Clinics of Istanbul
Northern Clinics of Istanbul
We report a 46 XX male syndrome diagnosed after failure of gonadotropin therapy taken for hypogonadotropic hypogonadism due to a pituitary macroadenoma. A 39-year-old man with a non-functioning pituitary macroadenoma was admitted to our clinic due to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6fb79450a4e4fe47bc3414ae79aa9625
https://jag.journalagent.com/z4/download_fulltext.asp?pdir=nci&un=NCI-57625
https://jag.journalagent.com/z4/download_fulltext.asp?pdir=nci&un=NCI-57625
Autor:
Mehmet Alikasifoglu, Koray Boduroğlu, Gülen Eda Utine, A. C. Ceylan, Ibrahim Sahin, G. Kayhan, Ferda Percin, Pelin Ozlem Simsek-Kiper, Haktan Bağış Erdem
Publikováno v:
Journal of Intellectual Disability Research. 63:548-557
Background Rearrangement of the 1q21 region of chromosome 1 manifests as multiple phenotypes, including microcephaly, intellectual disability, dysmorphic facial features, eye abnormalities, cardiac defects, genitourinary anomalies, autism spectrum di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::465f5a2e699e68a557cdafbe1197ffab
https://doi.org/10.1111/jir.12592
https://doi.org/10.1111/jir.12592
Publikováno v:
Molecular biology reports. 48(11)
Background Copy number variants (CNVs) play a key role in the etiology of autism spectrum disorder (ASD). Therefore, recent guidelines recommend chromosomal microarrays (CMAs) as first-tier genetic tests. This study's first aim was to determine the c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f597556f3d6ead7beabb26912e4069e4
https://pubmed.ncbi.nlm.nih.gov/34637094
https://pubmed.ncbi.nlm.nih.gov/34637094
Warburg micro syndrome (WARBM) is a rare autosomal recessive disorder characterized by microcephaly, cortical dysplasia, intellectual disability, ocular abnormalities, spastic diplegia, and microgenitalia. WARBM has 4 subtypes arising from pathogenic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::041b606b25601c4692e82f012d17d254
https://avesis.deu.edu.tr/publication/details/c6d7a645-d3d7-4b25-a4b3-40c1c3882f10/oai
https://avesis.deu.edu.tr/publication/details/c6d7a645-d3d7-4b25-a4b3-40c1c3882f10/oai
Publikováno v:
Genetic Testing and Molecular Biomarkers. 22:474-480
Marfan syndrome (MS), a connective tissue disorder that affects ocular, skeletal, and cardiovascular systems, is caused by heterozygous pathogenic variants in FBN1. To date, over 1800 different pathogenic variants have been reported.In the present st
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61a8a5c66cca38662c63f3ad2c4d1ee0
https://doi.org/10.1089/gtmb.2017.0286
https://doi.org/10.1089/gtmb.2017.0286
Autor:
Courtney M Karner, Martin F Dietrich, Eric B Johnson, Natalie Kappesser, Christian Tennert, Ferda Percin, Bernd Wollnik, Thomas J Carroll, Joachim Herz
Publikováno v:
PLoS ONE, Vol 5, Iss 4, p e10418 (2010)
Development of the kidney is initiated when the ureteric bud (UB) branches from the Wolffian duct and invades the overlying metanephric mesenchyme (MM) triggering the mesenchymal/epithelial interactions that are the basis of organ formation. Multiple
Externí odkaz:
https://doaj.org/article/6ab02f7eb2bc43e296e04a2b70fc7946
Publikováno v:
Network Modeling Analysis in Health Informatics and Bioinformatics. 8
Whole exome sequencing (WES), workflow consists of the following steps: raw data quality assessment, pre-processing, alignment, post-processing, variant calling, annotation, and prioritization. WES of human samples was reported to detect approximatel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::958b13e50cf9802287ca49b6d55a1ca4
https://doi.org/10.1007/s13721-019-0197-1
https://doi.org/10.1007/s13721-019-0197-1
Autor:
Frank J. Kaiser, Emma Bedoukian, Roberto Nitsch, Georg Christoph Korenke, Bernd Wollnik, Michel K. Herde, Josef M. Penninger, Yun Li, Anoop Kavirayani, Ana Cicvaric, Ronja Hollstein, Paul Moeseneder, Christian Henneberger, Ewelina Lenartowicz, Gökhan Yigit, Vanja Nagy, Tsung-Pin Pai, Matthew A. Deardorff, Francisco Quiroga, E. Ferda Percin, Pisanu Buphamalai, Jörg Menche, Ivona Kozieradzki
Publikováno v:
Neurology / Genetics 5(3), e330 (2019). doi:10.1212/NXG.0000000000000330
Neurology: Genetics
Neurology: Genetics
ObjectiveWe aim to characterize the causality and molecular and functional underpinnings of HACE1 deficiency in a mouse model of a recessive neurodevelopmental syndrome called spastic paraplegia and psychomotor retardation with or without seizures (S
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4354958f847d8df47dd78439d7e4f3f
http://resolver.sub.uni-goettingen.de/purl?gs-1/16714
http://resolver.sub.uni-goettingen.de/purl?gs-1/16714