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Ferda Perçin
Ferda Perçin
Tıbbi Genetik Profesörü, Gazi Üniversitesi Tıp Fakültesi
Verified email at gazi.edu.tr
Title
Cited by
Cited by
Year
Human microphthalmia associated with mutations in the retinal homeobox gene CHX10
E Ferda Percin, LA Ploder, JJ Yu, K Arici, D Jonathan Horsford, ...
Nature genetics 25 (4), 397-401, 2000
3352000
Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome
H van Bokhoven, J Celli, H Kayserili, E van Beusekom, S Balci, W Brussel, ...
Nature genetics 25 (4), 423-426, 2000
3282000
Blood-derived human iPS cells generate optic vesicle–like structures with the capacity to form retinal laminae and develop synapses
MJ Phillips, KA Wallace, SJ Dickerson, MJ Miller, AD Verhoeven, ...
Investigative ophthalmology & visual science 53 (4), 2007-2019, 2012
2442012
LRP4 mutations alter Wnt/β-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome
Y Li, B Pawlik, N Elcioglu, M Aglan, H Kayserili, G Yigit, F Percin, ...
The American Journal of Human Genetics 86 (5), 696-706, 2010
1852010
Modeling human retinal development with patient-specific induced pluripotent stem cells reveals multiple roles for visual system homeobox 2
MJ Phillips, ET Perez, JM Martin, ST Reshel, KA Wallace, EE Capowski, ...
Stem cells 32 (6), 1480-1492, 2014
1372014
Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism
JJ Reynolds, LS Bicknell, P Carroll, MR Higgs, R Shaheen, JE Murray, ...
Nature genetics 49 (4), 537-549, 2017
1022017
RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome
N Bögershausen, IC Tsai, E Pohl, PÖS Kiper, F Beleggia, EF Percin, ...
The Journal of clinical investigation 125 (9), 3585-3599, 2015
872015
Y chromosome azoospermia factor region microdeletions and recurrent pregnancy loss
A Karaer, K Karaer, G Ozaksit, S Ceylaner, EF Percin
American journal of obstetrics and gynecology 199 (6), 662. e1-662. e5, 2008
722008
Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis
S Boppudi, N Bögershausen, HB Hove, EF Percin, D Aslan, R Dvorsky, ...
Clinical genetics 90 (4), 334-342, 2016
672016
Lrp4 regulates initiation of ureteric budding and is crucial for kidney formation–a mouse model for Cenani-Lenz syndrome
CM Karner, MF Dietrich, EB Johnson, N Kappesser, C Tennert, F Percin, ...
PloS one 5 (4), e10418, 2010
652010
Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome
MS Hussain, A Battaglia, S Szczepanski, E Kaygusuz, MR Toliat, ...
The American Journal of Human Genetics 95 (5), 622-632, 2014
482014
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
352014
HACE1 deficiency leads to structural and functional neurodevelopmental defects
V Nagy, R Hollstein, TP Pai, MK Herde, P Buphamalai, P Moeseneder, ...
Neurology: Genetics 5 (3), e330, 2019
342019
Thiopurine methyltransferase polymorphisms and mercaptopurine tolerance in Turkish children with acute lymphoblastic leukemia
M Albayrak, U Konyssova, Z Kaya, T Gursel, S Guntekin, EF Percin, ...
Cancer chemotherapy and pharmacology 68, 1155-1159, 2011
332011
Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin type
S Malik, FE Percin, D Bornholdt, B Albrecht, A Percesepe, MC Koch, ...
The American Journal of Human Genetics 95 (6), 649-659, 2014
312014
ABCB1 C3435T polymorphism is associated with susceptibility to major depression, but not with a clinical response to citalopram in a Turkish population
G Ozbey, B Yucel, SE Taycan, D Kan, NE Bodur, T Arslan, F Percin, ...
Pharmacological Reports 66 (2), 235-238, 2014
312014
A Turkish family with Nance-Horan Syndrome due to a novel mutation
E Tug, NF Dilek, S Javadiyan, KP Burdon, FE Percin
Gene 525 (1), 141-145, 2013
302013
Association of microsomal epoxide hydrolase gene polymorphism and pre‐eclampsia in Turkish women
E Pinarbasi, FE Percin, M Yilmaz, E Akgun, M Cetin, A Cetin
Journal of Obstetrics and Gynaecology Research 33 (1), 32-37, 2007
262007
Autosomal recessive mesoaxial synostotic syndactyly with phalangeal reduction maps to chromosome 17p13. 3
S Malik, FE Percin, W Ahmad, S Percin, NA Akarsu, MC Koch, ...
American Journal of Medical Genetics Part A 134 (4), 404-408, 2005
262005
Influence of ABCB1 polymorphisms and serum concentrations on venlafaxine response in patients with major depressive disorder
G Ozbey, FC Celikel, BE Cumurcu, D Kan, B Yucel, E Hasbek, F Percin, ...
Nordic journal of psychiatry 71 (3), 230-237, 2017
252017
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