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Burcu Turkgenc
Burcu Turkgenc
Uskudar University, Faculty of Medicine, Department of Medical Biology and Genetics
Email verificata su uskudar.edu.tr - Home page
Titolo
Citata da
Citata da
Anno
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
Bi-allelic mutations in M1AP are a frequent cause of meiotic arrest and severely impaired spermatogenesis leading to male infertility
MJ Wyrwoll, ŞG Temel, L Nagirnaja, MS Oud, AM Lopes, ...
The American Journal of Human Genetics 107 (2), 342-351, 2020
682020
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
372008
Homozygous feature of isolated triphalangeal thumb–preaxial polydactyly linked to 7q36: no phenotypic difference between homozygotes and heterozygotes
CN Semerci, F Demirkan, M Özdemir, E Biskin, B Akin, H Bagci, ...
Clinical genetics 76 (1), 85-90, 2009
362009
A novel TBX19 gene mutation in a case of congenital isolated adrenocorticotropic hormone deficiency presenting with recurrent respiratory tract infections
N Akcan, N Serakıncı, B Turkgenc, R Bundak, N Bahceciler, SG Temel
Frontiers in endocrinology 8, 256580, 2017
182017
STUB1 polyadenylation signal variant AACAAA does not affect polyadenylation but decreases STUB1 translation causing SCAR16
B Turkgenc, B Sanlidag, A Eker, A Giray, O Kutuk, C Yakicier, A Tolun, ...
Human Mutation 39 (10), 1344-1348, 2018
122018
Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium
M Dundar, U Fahrioglu, SH Yildiz, B Bakir-Gungor, SG Temel, H Akin, ...
Functional & integrative genomics 22 (3), 291-315, 2022
92022
A novel homozygous nonsense mutation in CAST associated with PLACK syndrome
ŞG Temel, B Karakaş, Ü Şeker, B Turkgenç, Ö Zorlu, H Sarıcaoğlu, ...
Cell and tissue research 378, 267-277, 2019
82019
Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders
C Lowther, MM Mehrjouy, RL Collins, MC Bak, O Dudchenko, H Brand, ...
medRxiv, 2022.02. 15.22270795, 2022
42022
Identification and characterization of a novel FBN1 gene variant in an extended family with variable clinical phenotype of Marfan syndrome
MC Ergoren, B Turkgenc, K Teralı, O Rodoplu, A Verstraeten, L Van Laer, ...
Connective Tissue Research 60 (2), 146-154, 2019
42019
Colobomatous macrophthalmia with microcornea syndrome maps to the 2p23‐p16 region
NH Elcioglu, B Akin, E Toker, M Elcioglu, A Kaya, T Tuncali, B Wollnik, ...
American Journal of Medical Genetics Part A 143 (12), 1308-1312, 2007
42007
From Death to Life/Back to the Future: Detailed Premorbid Clinical and Family History Can Save Lives and Address the Final Diagnosis in Sudden Unexplained Deaths with Negative …
B Turkgenc, CL Baydar, I Deniz, A Akcay, MC Ergoren, SO Sag, ...
Applied Immunohistochemistry & Molecular Morphology 31 (10), 690-696, 2023
12023
MGMT in glial carcinogenesis. Roles from prevention to treatment
İ Elmaci, MA Altinoz, EBK Ozlu, R Sari, O Er, CG Ekmekci, B Turkgenc, ...
European Journal of Cancer Prevention 31 (6), 568-576, 2022
12022
Biallelic mutations in M1AP are a frequent cause of meiotic arrest leading to male infertility
MJ Wyrwoll, ŞG Temel, L Nagirnaja, MS Oud, AM Lopes, ...
bioRxiv, 803346, 2019
12019
Homozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen syndrome
F Uysal, B Turkgenc, G Toksoy, OM Bostan, E Evke, O Uyguner, ...
BMC Medical Genetics 18, 1-8, 2017
12017
Whole exome sequencing of consanguineous families of clinically diagnosed with neurodevelopmental disorders
B Türkgenç, K Yararbaş, H Keskin Karakoyun, A Yeşilyurt, A Gezdirici, ...
European Journal of Human Genetics, 2020
2020
Biallelic mutations in M1AP are associated with meiotic arrest, severely impaired spermatogenesis and male infertility
C Friedrich, SG Temel, L Nagirnaja, MS Oud, AM Lopes, ...
53rd European Society of Human Genetics (ESHG) Conference, 6-9 june 2020 28 …, 2020
2020
A balanced translocation t (2; 7)(p21; p15) in three generations: Genome sequencing offers an opportunity to understand molecular etiology of Saethre-Chotzen/Robinow-Sarouf …
B Turkgenc, RP Aguilar, B Curral, C Lowther, ES Wilch, M Talkowski, ...
EUROPEAN JOURNAL OF HUMAN GENETICS 27, 1271-1271, 2019
2019
Identification of a Novel Genetic Cause of Familial Nonobstructive Azospermia
SG Temel, B Turkgenc, K Terali, M Ergoren, M Cetinkaya, M Basar, ...
EUROPEAN JOURNAL OF HUMAN GENETICS 27, 1190-1191, 2019
2019
Fifteen year story of a balanced translocation t (2; 7)(p21; p15): Unraveling the phenotype of Saethre-Chotzen/Robinow-Sarouf syndrome or still undiagnosed skeletal dysplasia …
SG Temel, B Turkgenc, RP Aguilar, B Curral, C Lowther, ES Wilch, ...
Erciyes Medical Journal 41 (S1), 27-28, 2019
2019
Il sistema al momento non può eseguire l'operazione. Riprova più tardi.
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