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Elif Uz-Yıldırım
Elif Uz-Yıldırım
Moleküler Biyoloji ve Genetik Yardımcı Doçent, Uludağ Üniversitesi
Verified email at uludag.edu.tr
Title
Cited by
Cited by
Year
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes
A Putoux, S Thomas, KLM Coene, EE Davis, Y Alanay, G Ogur, E Uz, ...
Nature genetics 43 (6), 601-606, 2011
2532011
Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia
E Uz, Y Alanay, D Aktas, I Vargel, S Gucer, G Tuncbilek, F von Eggeling, ...
The American Journal of Human Genetics 86 (5), 789-796, 2010
1602010
ALX4 dysfunction disrupts craniofacial and epidermal development
H Kayserili, E Uz, C Niessen, I Vargel, Y Alanay, G Tuncbilek, G Yigit, ...
Human molecular genetics 18 (22), 4357-4366, 2009
1422009
Evidence from autoimmune thyroiditis of skewed X-chromosome inactivation in female predisposition to autoimmunity
T Ozcelik, E Uz, CB Akyerli, S Bagislar, CA Mustafa, A Gursoy, N Akarsu, ...
European Journal of Human Genetics 14 (6), 791-797, 2006
1282006
Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans
T Ozcelik, N Akarsu, E Uz, S Caglayan, S Gulsuner, OE Onat, M Tan, ...
Proceedings of the National Academy of Sciences 105 (11), 4232-4236, 2008
1222008
Analysis of skewed X-chromosome inactivation in females with rheumatoid arthritis and autoimmune thyroid diseases
G Chabchoub, E Uz, A Maalej, CA Mustafa, A Rebai, M Mnif, Z Bahloul, ...
Arthritis research & therapy 11, 1-8, 2009
1182009
STK4 (MST1) deficiency in two siblings with autoimmune cytopenias: a novel mutation
SO Halacli, DC Ayvaz, C Sun-Tan, B Erman, E Uz, DY Yilmaz, K Ozgul, ...
Clinical Immunology 161 (2), 316-323, 2015
902015
Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1
C Bonnard, AC Strobl, M Shboul, H Lee, B Merriman, SF Nelson, ...
Nature genetics 44 (6), 709-713, 2012
872012
Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon‐like craniosynostosis
K Keupp, Y Li, I Vargel, A Hoischen, R Richardson, K Neveling, Y Alanay, ...
Molecular genetics & genomic medicine 1 (4), 223-237, 2013
792013
Extreme clonality in lymphoblastoid cell lines with implications for allele specific expression analyses
V Plagnol, E Uz, C Wallace, H Stevens, D Clayton, T Ozcelik, JA Todd
PLoS One 3 (8), e2966, 2008
712008
Skewed X-chromosome inactivation in scleroderma
E Uz, LS Loubiere, VK Gadi, Z Ozbalkan, J Stewart, JL Nelson, T Ozcelik
Clinical reviews in allergy & immunology 34, 352-355, 2008
542008
Skewed X inactivation in an X linked nystagmus family resulted from a novel, p. R229G, missense mutation in the FRMD7 gene
Y Kaplan, I Vargel, T Kansu, B Akin, E Rohmann, S Kamaci, E Uz, ...
British Journal of Ophthalmology 92 (1), 135-141, 2008
362008
TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia
Y Alanay, B Ergüner, E Utine, O Haçarız, POS Kiper, EZ Taşkıran, ...
American Journal of Medical Genetics Part A 164 (2), 291-304, 2014
332014
Loss-of-function mutations in ELMO2 cause intraosseous vascular malformation by impeding RAC1 signaling
A Cetinkaya, JR Xiong, İ Vargel, K Kösemehmetoğlu, Hİ Canter, ...
The American Journal of Human Genetics 99 (2), 299-317, 2016
282016
Increased frequency of extremely skewed X chromosome inactivation in juvenile idiopathic arthritis
E Uz, C Mustafa, R Topaloglu, Y Bilginer, A Dursun, O Kasapcopur, ...
Arthritis & Rheumatism: Official Journal of the American College of …, 2009
272009
DNA fingerprinting of Cannabis sativa L. accessions using RAPD and AFLP markers
EE Hakki, E Uz, A Sag, S Atasoy, M Akkaya
192003
Agranulocytosis related to clozapine in monozygotic twins and association with allelic variants of multidrug resistance gene MDR1
AEA Yagcoglu, BÇ Ilhan, MT Göktas, MO Babaoglu, E Uz, MK Yazc
Journal of clinical psychopharmacology 31 (2), 247-249, 2011
162011
Reply to Herz et al. and Humphrey et al.: Genetic heterogeneity of cerebellar hypoplasia with quadrupedal locomotion
T Ozcelik, N Akarsu, E Uz, S Caglayan, S Gulsuner, OE Onat, M Tan, ...
Proceedings of the National Academy of Sciences 105 (23), E32-E33, 2008
102008
Characterization and in silico analyses of the BRCA1/2 variants identified in individuals with personal and/or family history of BRCA-related cancers
D Pirim, N Kaya, EU Yıldırım, SO Sag, SG Temel
International Journal of Biological Macromolecules 162, 1166-1177, 2020
92020
Extremely skewed X-chromosome inactivation is increased in pre-eclampsia
E Uz, I Dolen, AR Al, T Ozcelik
Human genetics 121, 101-105, 2007
92007
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