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Nurten A Akarsu
Nurten A Akarsu
Professor of Human Genetics
Verified email at hacettepe.edu.tr
Title
Cited by
Cited by
Year
Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly
LA Lettice, T Horikoshi, SJH Heaney, MJ van Baren, HC van der Linde, ...
Proceedings of the national academy of sciences 99 (11), 7548-7553, 2002
5532002
Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder
R Segurado, SD Detera-Wadleigh, DF Levinson, CM Lewis, M Gill, ...
The American Journal of Human Genetics 73 (1), 49-62, 2003
5362003
Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta
Y Alanay, H Avaygan, N Camacho, GE Utine, K Boduroglu, D Aktas, ...
The American Journal of Human Genetics 86 (4), 551-559, 2010
3622010
Assignment of a locus (GLC3A) for primary congenital glaucoma (Buphthalmos) to 2p21 and evidence for genetic heterogeneity
M Sarfarazi, NA Akarsu, A Hossain, EM Turacli, GS Aktan, ...
Genomics 30 (2), 171-177, 1995
3411995
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
3222000
A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7
P Bayrak‐Toydemir, J McDonald, N Akarsu, RM Toydemir, F Calderon, ...
American journal of medical genetics Part A 140 (20), 2155-2162, 2006
2892006
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
2522011
Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish
PV Asharani, K Keupp, O Semler, W Wang, Y Li, H Thiele, G Yigit, E Pohl, ...
The American Journal of Human Genetics 90 (4), 661-674, 2012
2372012
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
1612010
The effect of depression, BDNF gene val66met polymorphism and gender on serum BDNF levels
E Ozan, H Okur, Ç Eker, ÖD Eker, AS Gönül, N Akarsu
Brain research bulletin 81 (1), 61-65, 2010
1612010
Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond–like features
R Carapito, M Konantz, C Paillard, Z Miao, A Pichot, MS Leduc, Y Yang, ...
The Journal of clinical investigation 127 (11), 4090-4103, 2017
1532017
A specific mutation in the distant sonic hedgehog (SHH) cis‐regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications …
D Wieczorek, B Pawlik, Y Li, NA Akarsu, A Caliebe, KJW May, ...
Human mutation 31 (1), 81-89, 2010
1462010
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
1392009
Disruption of PTPRO causes childhood-onset nephrotic syndrome
F Ozaltin, T Ibsirlioglu, EZ Taskiran, DE Baydar, F Kaymaz, M Buyukcelik, ...
The American Journal of Human Genetics 89 (1), 139-147, 2011
1362011
Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy
H Gundesli, B Talim, P Korkusuz, B Balci-Hayta, S Cirak, NA Akarsu, ...
The American Journal of Human Genetics 87 (6), 834-841, 2010
1272010
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
1272006
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
1232008
Mutations in RIPK4 cause the autosomal-recessive form of popliteal pterygium syndrome
E Kalay, O Sezgin, V Chellappa, M Mutlu, H Morsy, H Kayserili, E Kreiger, ...
The American Journal of Human Genetics 90 (1), 76-85, 2012
1112012
Clinical and genetic studies on 12 preaxial polydactyly families and refinement of the localisation of the gene responsible to a 1.9 cM region on chromosome 7q36
J Zguricas, H Heus, E Morales-Peralta, G Breedveld, B Kuyt, EF Mumcu, ...
Journal of Medical Genetics 36 (1), 33-40, 1999
1081999
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
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