• 6448 Citations
19972020

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Article
2012

Screening of OTOF mutations in Iran: A novel mutation and review

Mahdieh, N., Shirkavand, A., Rabbani, B., Tekin, M., Akbari, B., Akbari, M. T. & Zeinali, S., Nov 1 2012, In : International Journal of Pediatric Otorhinolaryngology. 76, 11, p. 1610-1615 6 p.

Research output: Contribution to journalArticle

24 Scopus citations

Unique spectrum of GJB2 mutations in Mexico

de la Luz Arenas-Sordo, M., Menendez, I., Hernández-Zamora, E., Sirmaci, A., Gutiérrez-Tinajero, D., McGetrick, M., Murphy-Ruiz, P., Leyva-Juárez, X., Huesca-Hernández, F., Dominguez-Aburto, J. & Tekin, M., Nov 1 2012, In : International Journal of Pediatric Otorhinolaryngology. 76, 11, p. 1678-1680 3 p.

Research output: Contribution to journalArticle

13 Scopus citations

Whole-Exome Sequencing Efficiently Detects Rare Mutations in Autosomal Recessive Nonsyndromic Hearing Loss

Diaz-Horta, O., Duman, D., Foster, J., Sirmaci, A., Gonzalez, M., Mahdieh, N., Fotouhi, N., Bonyadi, M., Cengiz, F. B., Menendez, I., Ulloa, R. H., Edwards, Y. J. K., Züchner, S., Blanton, S. & Tekin, M., Nov 30 2012, In : PloS one. 7, 11, e50628.

Research output: Contribution to journalArticle

100 Scopus citations
2011

Audiological findings in otospondylomegaepiphyseal dysplasia (OSMED) associated with a novel mutation in COL11A2

Tokgöz-Yilmaz, S., Şahli, S., Fitoz, S., Sennaroĝlu, G. & Tekin, M., Mar 2011, In : International Journal of Pediatric Otorhinolaryngology. 75, 3, p. 433-437 5 p.

Research output: Contribution to journalArticle

7 Scopus citations

Cardiomyopathy with alopecia and palmoplantar keratoderma (CAPK) is caused by a JUP mutation

Erken, H., Yariz, K. O., Duman, D., Kaya, C. T., Sayin, T., Heper, A. O. & Tekin, M., Oct 1 2011, In : British Journal of Dermatology. 165, 4, p. 917-921 5 p.

Research output: Contribution to journalArticle

18 Scopus citations

Inherited mutation of the luteinizing hormone/choriogonadotropin receptor (LHCGR) in empty follicle syndrome

Yariz, K. O., Walsh, T., Uzak, A., Spiliopoulos, M., Duman, D., Onalan, G., King, M. C. & Tekin, M., Aug 1 2011, In : Fertility and sterility. 96, 2, p. e125-e130

Research output: Contribution to journalArticle

47 Scopus citations

Mutation Screening of the GJA7 (Cx45) Gene in a Large International Series of Probands with Nonsyndromic Hearing Impairment

Ouyang, X. M., Yan, D., Aslan, I., Du, L. L., Tekin, M. & Liu, X. Z., May 1 2011, In : Genetic Testing and Molecular Biomarkers. 15, 5, p. 333-336 4 p.

Research output: Contribution to journalArticle

1 Scopus citations

Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia

Sirmaci, A., Spiliopoulos, M., Brancati, F., Powell, E., Duman, D., Abrams, A., Bademci, G., Agolini, E., Guo, S., Konuk, B., Kavaz, A., Blanton, S., Digilio, M. C., Dallapiccola, B., Young, J., Zuchner, S. & Tekin, M., Aug 12 2011, In : American journal of human genetics. 89, 2, p. 289-294 6 p.

Research output: Contribution to journalArticle

121 Scopus citations

Pyridoxal phosphate-responsive seizures in a patient with cerebral folate deficiency (CFD) and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM)

Dill, P., Schneider, J., Weber, P., Trachsel, D., Tekin, M., Jakobs, C., Thöny, B. & Blau, N., Nov 1 2011, In : Molecular Genetics and Metabolism. 104, 3, p. 362-368 7 p.

Research output: Contribution to journalArticle

16 Scopus citations

Screening of 38 genes identifies mutations in 62% of families with nonsyndromic deafness in Turkey

Duman, D., Sirmaci, A., Cengiz, F. B., Ozdag, H. & Tekin, M., Jan 1 2011, In : Genetic Testing and Molecular Biomarkers. 15, 1-2, p. 29-33 5 p.

Research output: Contribution to journalArticle

53 Scopus citations
2010

A FGF3 mutation associated with differential inner ear malformation, microtia, and microdontia

Ramsebner, R., Ludwig, M., Parzefall, T., Lucas, T., Baumgartner, W. D., Bodamer, O., Cengiz, F. B., Schoefer, C., Tekin, M. & Frei, K., Feb 1 2010, In : Laryngoscope. 120, 2, p. 359-364 6 p.

Research output: Contribution to journalArticle

17 Scopus citations

A Truncating Mutation in SERPINB6 Is Associated with Autosomal-Recessive Nonsyndromic Sensorineural Hearing Loss

Sirmaci, A., Erbek, S., Price, J., Huang, M., Duman, D., Cengiz, F. B., Bademci, G., Tokgöz-Yilmaz, S., Hişmi, B., Özdaǧ, H., Öztürk, B., Kulaksizoǧlu, S., Yildirim, E., Kokotas, H., Grigoriadou, M., Petersen, M. B., Shahin, H., Kanaan, M., King, M. C., Chen, Z. Y. & 5 others, Blanton, S. H., Liu, X. Z., Zuchner, S., Akar, N. & Tekin, M., May 14 2010, In : American journal of human genetics. 86, 5, p. 797-804 8 p.

Research output: Contribution to journalArticle

35 Scopus citations

GJB2 mutations in mongolia: Complex alleles, low frequency, and reduced fitness of the deaf

Tekin, M., Xia, X. J., Erdenetungalag, R., Cengiz, F. B., White, T. W., Radnaabazar, J., Dangaasuren, B., Tastan, H., Nance, W. E. & Pandya, A., Mar 2010, In : Annals of Human Genetics. 74, 2, p. 155-164 10 p.

Research output: Contribution to journalArticle

41 Scopus citations

Heart rate variability in children with congenital sensorineural deafness

Uçar, T., Tutar, E., Tekin, M. & Atalay, S., Aug 17 2010, In : Turkish Journal of Pediatrics. 52, 2, p. 173-178 6 p.

Research output: Contribution to journalArticle

2 Scopus citations

High frequency of the p.R34X mutation in the TMC1 gene associated with nonsyndromic hearing loss is due to founder effects

Saïd, M. B., Hmani-Aifa, M., Amar, I., Baig, S. M., Mustapha, M., Delmaghani, S., Tlili, A., Ghorbel, A., Ayadi, H., Van Camp, G., Smith, R. J. H., Tekin, M. & Masmoudi, S., Jun 1 2010, In : Genetic Testing and Molecular Biomarkers. 14, 3, p. 307-311 5 p.

Research output: Contribution to journalArticle

27 Scopus citations

MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of carnevale, malpuech, OSA, and michels syndromes

Sirmaci, A., Walsh, T., Akay, H., Spiliopoulos, M., Şakalar, Y. B., Hasanefendioǧlu-Bayrak, A., Duman, D., Farooq, A., King, M. C. & Tekin, M., Nov 12 2010, In : American journal of human genetics. 87, 5, p. 679-686 8 p.

Research output: Contribution to journalArticle

92 Scopus citations

Recurrent and private MYO15A mutations are associated with deafness in the Turkish population

Cengiz, F. B., Duman, D., Sirmaci, A., Tokgöz-Yilmaz, S., Erbek, S., Öztürkmen-Akay, H., Incesulu, A., Edwards, Y. J. K., Özdag, H., Liu, X. Z. & Tekin, M., Aug 1 2010, In : Genetic Testing and Molecular Biomarkers. 14, 4, p. 543-550 8 p.

Research output: Contribution to journalArticle

34 Scopus citations

Unexpected heterogeneity due to recessive and de novo dominant mutations of GJB2 in an Iranian family with nonsyndromic hearing loss: Implication for genetic counseling

Mahdieh, N., Shirkavand, A., Raeisi, M., Akbari, M. T., Tekin, M. & Zeinali, S., Nov 12 2010, In : Biochemical and biophysical research communications. 402, 2, p. 305-307 3 p.

Research output: Contribution to journalArticle

8 Scopus citations

WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome

Kim, H. G., Ahn, J. W., Kurth, I., Ullmann, R., Kim, H. T., Kulharya, A., Ha, K. S., Itokawa, Y., Meliciani, I., Wenzel, W., Lee, D., Rosenberger, G., Ozata, M., Bick, D. P., Sherins, R. J., Nagase, T., Tekin, M., Kim, S. H., Kim, C. H., Ropers, H. H. & 4 others, Gusella, J. F., Kalscheuer, V., Choi, C. Y. & Layman, L. C., Oct 8 2010, In : American journal of human genetics. 87, 4, p. 465-479 15 p.

Research output: Contribution to journalArticle

108 Scopus citations
2009

A complex TFAP2A allele is associated with branchio-oculo-facial syndrome and inner ear malformation in a deaf child

Tekin, M., Sirmaci, A., Yüksel-Konuk, B., Fitoz, S. & Sennaroǧlu, L., Mar 1 2009, In : American Journal of Medical Genetics, Part A. 149, 3, p. 427-430 4 p.

Research output: Contribution to journalArticle

29 Scopus citations

A founder TMIE mutation is a frequent cause of hearing loss in southeastern Anatolia

Sirmaci, A., Öztürkmen-Akay, H., Erbek, S., Incesulu, A., Duman, D., Taşir-Yilmaz, S., Özdaǧ, H. & Tekin, M., Jun 11 2009, In : Clinical Genetics. 75, 6, p. 562-567 6 p.

Research output: Contribution to journalArticle

10 Scopus citations

Homozygous mutations in the 15-hydroxyprostaglandin dehydrogenase gene in patients with primary hypertrophic osteoarthropathy

Yüksel-Konuk, B., SIrmacI, A., Ayten, G. E., Özdemir, M., Aslan, I., YIlmaz-Turay, Ü., Erdoǧan, Y. & Tekin, M., Nov 1 2009, In : Rheumatology International. 30, 1, p. 39-43 5 p.

Research output: Contribution to journalArticle

31 Scopus citations

Hyperekplexia in a neonate: A novel finding in fukuyama type congenital muscular dystrophy

Tunc, T., Mungan, I. A., Okulu, E., Tiras, S. T., Tekin, M., Atasay, B., Arsan, S. & Turmen, T., Oct 26 2009, In : Genetic Counseling. 20, 3, p. 275-279 5 p.

Research output: Contribution to journalArticle

2 Scopus citations

Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival

Hucthagowder, V., Morava, E., Kornak, U., Lefeber, D. J., Fischer, B., Dimopoulou, A., Aldinger, A., Choi, J., Davis, E. C., Abuelo, D. N., Adamowicz, M., Al-Aama, J., Basel-Vanagaite, L., Fernandez, B., Greally, M. T., Gillessen-Kaesbach, G., Kayserili, H., Lemyre, E., Tekin, M., Türkmen, S. & 6 others, Tuysuz, B., Yüksel-Konuk, B., Mundlos, S., Van Maldergem, L., Wevers, R. A. & Urban, Z., 2009, In : Human molecular genetics. 18, 12, p. 2149-2165 17 p.

Research output: Contribution to journalArticle

73 Scopus citations

Modulation of Fgf3 dosage in mouse and men mirrors evolution of mammalian dentition

Charles, C., Lazzari, V., Tafforeau, P., Schimmang, T., Tekin, M., Klein, O. & Viriot, L., Dec 19 2009, In : Proceedings of the National Academy of Sciences of the United States of America. 106, 52, p. 22364-22368 5 p.

Research output: Contribution to journalArticle

34 Scopus citations

Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: A report of five novel mutations

Sirmaci, A., Duman, D., Öztürkmen-Akay, H., Erbek, S., Incesulu, A., Öztürk-Hişmi, B., Arici, Z. S., Yüksel-Konuk, E. B., Taşir-Yilmaz, S., Tokgöz-Yilmaz, S., Cengiz, F. B., Aslan, I., Yildirim, M., Hasanefendioǧlu-Bayrak, A., Ayçiçek, A., Yilmaz, I., Fitoz, S., Altin, F., Özdaǧ, H. & Tekin, M., May 1 2009, In : International Journal of Pediatric Otorhinolaryngology. 73, 5, p. 699-705 7 p.

Research output: Contribution to journalArticle

36 Scopus citations

Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene

Hilgert, N., Huentelman, M. J., Thorburn, A. Q., Fransen, E., Dieltjens, N., Mueller-Malesinska, M., Pollak, A., Skorka, A., Waligora, J., Ploski, R., Castorina, P., Primignani, P., Ambrosetti, U., Murgia, A., Orzan, E., Pandya, A., Arnos, K., Norris, V., Seeman, P., Janousek, P. & 37 others, Feldmann, D., Marlin, S., Denoyelle, F., Nishimura, C. J., Janecke, A., Nekahm-Heis, D., Martini, A., Mennucci, E., Tóth, T., Sziklai, I., del Castillo, I., Moreno, F., Petersen, M. B., Iliadou, V., Tekin, M., Incesulu, A., Nowakowska, E., Bal, J., Van de Heyning, P., Roux, A. F., Blanchet, C., Goizet, C., Lancelot, G., Fialho, G., Caria, H., Liu, X. Z., Xiaomei, O., Govaerts, P., Grønskov, K., Hostmark, K., Frei, K., Dhooge, I., Vlaeminck, S., Kunstmann, E., Van Laer, L., Smith, R. J. H. & Van Camp, G., 2009, In : European Journal of Human Genetics. 17, 4, p. 517-524 8 p.

Research output: Contribution to journalArticle

36 Scopus citations
2008

A Comparative Analysis of the Genetic Epidemiology of Deafness in the United States in Two Sets of Pedigrees Collected More than a Century Apart

Arnos, K. S., Welch, K. O., Tekin, M., Norris, V. W., Blanton, S. H., Pandya, A. & Nance, W. E., Aug 8 2008, In : American journal of human genetics. 83, 2, p. 200-207 8 p.

Research output: Contribution to journalArticle

26 Scopus citations

Cat eye sendromu: Olgu sunumu

Translated title of the contribution: Cat eye syndrome: Case reportArhan, E., Kanmaz, H. G., Ekici, F., Ünal, S., Şenel, E. & Tekin, M., Jun 1 2008, In : Gazi Medical Journal. 19, 2, p. 82-83 2 p.

Research output: Contribution to journalArticle

Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia

Tekin, M., Öztürkmen Akay, H., Fitoz, S., Birnbaum, S., Cengiz, F. B., Sennaroǧlu, L., Incesulu, A., Yüksel, K., Hasanefendioǧlu Bayrak, A., Şentürk, S., Cebeci, I., Ü̈tine, G. E., Tunçbilek, E., Nance, W. E. & Duman, D., Jun 1 2008, In : Clinical Genetics. 73, 6, p. 554-565 12 p.

Research output: Contribution to journalArticle

34 Scopus citations

Mutations in CHD7, Encoding a Chromatin-Remodeling Protein, Cause Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome

Kim, H. G., Kurth, I., Lan, F., Meliciani, I., Wenzel, W., Eom, S. H., Kang, G. B., Rosenberger, G., Tekin, M., Ozata, M., Bick, D. P., Sherins, R. J., Walker, S. L., Shi, Y., Gusella, J. F. & Layman, L. C., Oct 10 2008, In : American journal of human genetics. 83, 4, p. 511-519 9 p.

Research output: Contribution to journalArticle

204 Scopus citations

Paternal X could relate to arithmetic function; study of cognitive function and parental origin of X chromosome in Turner syndrome

Ergür, A. T., Öcal, G., Berberoglu, M., Tekin, M., Kiliç, B. G., Aycan, Z., Kutlu, A., Adiyaman, P., Siklar, Z., Akar, N., Sahin, A. & Akçayöz, D., Apr 2008, In : Pediatrics International. 50, 2, p. 172-174 3 p.

Research output: Contribution to journalArticle

9 Scopus citations

Severe muscle-eye-brain disease is associated with a homozygous mutation in the POMGnT1 gene

Teber, S., Sezer, T., Kafali, M., Chiara Manzini, M., Konuk Yüksel, B., Tekin, M., Fitöz, S., Walsh, C. A. & Deda, G., Mar 1 2008, In : European Journal of Paediatric Neurology. 12, 2, p. 133-136 4 p.

Research output: Contribution to journalArticle

17 Scopus citations

The effect of p.Arg25Cys alteration in NKX2-5 on conotruncal heart anomalies: Mutation or polymorphism?

Akçaboy, M. I., Cengiz, F. B., Inceoǧlu, B., Uçar, T., Atalay, S., Tutar, E. & Tekin, M., Jan 1 2008, In : Pediatric Cardiology. 29, 1, p. 126-129 4 p.

Research output: Contribution to journalArticle

25 Scopus citations
2007

A 15-year-old girl with swelling of the face, legs, breast, and eyes

Sözener, Z. Ç., Tekin, M., Mungan, D. & Karnak, D., Mar 2007, In : Pediatric annals. 36, 3, p. 150-153 4 p.

Research output: Contribution to journalArticle

A novel mutation in TRIM37 is associated with mulibrey nanism in a Turkish boy

Doǧanci, T., Yüksel Konuk, B. E., Alpan, N., Konuk, O., Hämäläinen, R. H., Lehesjoki, A. E. & Tekin, M., Jul 1 2007, In : Clinical Dysmorphology. 16, 3, p. 173-176 4 p.

Research output: Contribution to journalArticle

7 Scopus citations

Distal truncation of KCC3 in non-French Canadian HMSN/ACC families

Salin-Cantegrel, A., Rivière, J. B., Dupré, N., Charron, F. M., Shekarabi, M., Karéméra, L., Gaspar, C., Horst, J., Tekin, M., Deda, G., Krause, A., Lippert, M. M., Willemsen, M. A. A. P., Jarrar, R., Lapointe, J. Y. & Rouleau, G. A., Sep 2007, In : Neurology. 69, 13, p. 1350-1355 6 p.

Research output: Contribution to journalArticle

18 Scopus citations

Familial neonatal Marfan syndrome due to parental mosaicism of a missense mutation in the FBN1 gene

Tekin, M., Cengiz, F. B., Ayberkin, E., Kendirli, T., Fitoz, S., Tutar, E., Çiftçi, E. & Conba, A., Apr 15 2007, In : American Journal of Medical Genetics, Part A. 143, 8, p. 875-880 6 p.

Research output: Contribution to journalArticle

33 Scopus citations
24 Scopus citations

Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia

Tekin, M., Hişmi, B. Ö., Fitoz, S., Özdaǧ, H., Cengiz, F. B., Sirmaci, A., Aslan, I., Inceoǧlu, B., Yüksel-Konuk, E. B., Yilmaz, S. T., Yasun, Ö. & Akar, N., Feb 2007, In : American journal of human genetics. 80, 2, p. 338-344 7 p.

Research output: Contribution to journalArticle

76 Scopus citations

Sensörinöral işitme kaybi olan kişilerde mitokondriyal 12S rRNA (MTRNR1) geninin taranmasi.

Translated title of the contribution: Screening of the mitochondrial 12S rRNA (MTRNR1) gene in probands with sensorineural hearing lossCirçir, Y. E., Incesulu, A. & Tekin, M., 2007, In : Kulak burun boǧaz ihtisas dergisi : KBB = Journal of ear, nose, and throat. 17, 2, p. 75-80 6 p.

Research output: Contribution to journalArticle

1 Scopus citations

SLC26A4 mutations are associated with a specific inner ear malformation

Fitoz, S., Sennaroǧlu, L., Incesulu, A., Cengiz, F. B., Koç, Y. & Tekin, M., Mar 1 2007, In : International Journal of Pediatric Otorhinolaryngology. 71, 3, p. 479-486 8 p.

Research output: Contribution to journalArticle

16 Scopus citations
2006

A germline PTEN mutation with manifestations of prenatal onset and verrucous epidermal nevus

Tekin, M., Hişmi, B. Ö., Fitoz, S., Yalçinkaya, F., Ekim, M., Kansu, A., Ertem, M., Deda, G., Tutar, E., Arsan, S., Zhou, X. P., Pilarski, R., Eng, C. & Akar, N., Jul 1 2006, In : American Journal of Medical Genetics, Part A. 140, 13, p. 1472-1475 4 p.

Research output: Contribution to journalArticle

8 Scopus citations

Analysis of NPHS2 mutations in Turkish steroid-resistant nephrotic syndrome patients

Özçakar, Z. B., Cengiz, F. B., Çakar, N., Uncu, N., Kara, N., Acar, B., Yüksel, S., Ekim, M., Tekin, M. & Yalçinkaya, F., Aug 1 2006, In : Pediatric Nephrology. 21, 8, p. 1093-1096 4 p.

Research output: Contribution to journalArticle

18 Scopus citations

Effects of GJB2 genotypes on the audiological phenotype: Variability is present for all genotypes

Hişmi, B. Ö., Yilmaz, S. T., Incesulu, A. & Tekin, M., Oct 1 2006, In : International Journal of Pediatric Otorhinolaryngology. 70, 10, p. 1687-1694 8 p.

Research output: Contribution to journalArticle

18 Scopus citations

Frequency of five thrombophilic polymorphisms in the Egyptian population

Ulu, A., Elsobky, E., Elsayed, M., Yildiz, Z., Tekin, M. & Akar, N., Dec 1 2006, In : Turkish Journal of Hematology. 23, 2, p. 100-103 4 p.

Research output: Contribution to journalArticle

14 Scopus citations

Genomic analysis of a heterogeneous Mendelian phenotype: Multiple novel alleles for inherited hearing loss in the Palestinian population

Walsh, T., Rayan, A. A., Sa'ed, J. A., Shahin, H., Shepshelovich, J., Lee, M. K., Hirschberg, K., Tekin, M., Salhab, W., Avraham, K. B., King, M. C. & Kanaan, M., Jan 2006, In : Human genomics. 2, 4, p. 203-211 9 p.

Research output: Contribution to journalArticle

Open Access
37 Scopus citations

Niikawa-Kuroki (Kabuki) syndrome with congenital sensorineural deafness: Evidence for a wide spectrum of inner ear abnormalities

Tekin, M., Fitoz, S., Arici, S., Cetinkaya, E. & Incesulu, A., May 1 2006, In : International Journal of Pediatric Otorhinolaryngology. 70, 5, p. 885-889 5 p.

Research output: Contribution to journalArticle

12 Scopus citations

Serum amyloid A1 -13 T/C alleles in Turkish familial Mediterranean fever patients with and without amyloidosis

Akar, N., Hasipek, M., Ozturk, A., Akar, E. & Tekin, M., May 1 2006, In : Journal of Nephrology. 19, 3, p. 318-321 4 p.

Research output: Contribution to journalArticle

6 Scopus citations

The c.IVS1+1G>A mutation inthe GJB2 gene is prevalent and large deletions involving the GJB6 gene are not present in the Turkish population

Sirmaci, A., Akcayoz-Duman, D. & Tekin, M., Dec 1 2006, In : Journal of Genetics. 85, 3, p. 213-216 4 p.

Research output: Contribution to journalArticle

39 Scopus citations