• 6448 Citations
19972020

Research output per year

If you made any changes in Pure these will be visible here soon.

Research Output

Filter
Article
1997

Protracted arthritis of familial Mediterranean fever (an unusual complication)

Yalçinkaya, F., Tekin, M., Tümer, N. & Özkaya, N., Nov 1997, In : British Journal of Rheumatology. 36, 11, p. 1228-1230 3 p.

Research output: Contribution to journalArticle

32 Scopus citations
1998

Effect of 1,2-dimethyl-3-hydroxypyridin-4-one (L1) on zinc absorption

Akar, N., Tekin, M., Uysal, Z. & Uzunali, O., May 1 1998, In : Journal of Trace Elements in Experimental Medicine. 11, 1, p. 5-9 5 p.

Research output: Contribution to journalArticle

1 Scopus citations

Oxygen free radical-dependent increased platelet function in β- thalassemia major patients

Pasin, M., Yavuzer, S., Tekin, M., Akar, N. & Violi, F., Dec 15 1998, In : Thrombosis Research. 92, 6, p. 283-286 4 p.

Research output: Contribution to journalArticle

11 Scopus citations
1999

Familial mediterranean fever and acute rheumatic fever: A pathogenetic relationship?

Tekin, M., Yalçinkaya, F., Tümer, N., Çakar, N. & Koçak, H., Dec 1 1999, In : Clinical Rheumatology. 18, 6, p. 446-449 4 p.

Research output: Contribution to journalArticle

14 Scopus citations

Familial Mediterranean fever - Renal involvement by diseases other than amyloid

Tekin, M., Yalçinkaya, F., Türmer, N., Çakar, N., Koçak, H., Özkaya, N. & Gençgönül, H., Feb 10 1999, In : Nephrology Dialysis Transplantation. 14, 2, p. 475-479 5 p.

Research output: Contribution to journalArticle

52 Scopus citations
2000

A 17-month-old with extreme prenatal-onset growth delay

Tekin, M., Ng, J. & Bodurtha, J., Jan 1 2000, In : European Journal of Pediatrics. 159, 12, p. 926-928 3 p.

Research output: Contribution to journalArticle

4 Scopus citations

Clinical, laboratory and molecular characteristics of children with Familial Mediterranean Fever-associated vasculitis

Tekin, M., Yalçinkaya, F., Tümer, N., Akar, N., Misirlioǧlu, M. & Çakar, N., 2000, In : Acta Paediatrica, International Journal of Paediatrics. 89, 2, p. 177-182 6 p.

Research output: Contribution to journalArticle

72 Scopus citations

Counseling dilemmas in EEC syndrome

Tekin, M., Ohle, C., Johnson, D. E., Christmas, J. T. & Bodurtha, J., Mar 21 2000, In : Genetic Counseling. 11, 1, p. 19-24 6 p.

Research output: Contribution to journalArticle

5 Scopus citations

Effect of desferrioxamine on urinary copper and zinc excretion in β-thalassemia major patients

Akar, N., Tekin, M., Uysal, Z. & Uzunali, Ö., Jan 1 2000, In : Journal of Trace Elements in Experimental Medicine. 13, 2, p. 195-198 4 p.

Research output: Contribution to journalArticle

Familial Mediterranean fever and systemic amyloidosis in untreated Turkish patients

Yalçinkaya, F., Tekin, M., Çakar, N., Akar, E., Akar, N. & Tümer, N., Jan 1 2000, In : QJM - Monthly Journal of the Association of Physicians. 93, 10, p. 681-684 4 p.

Research output: Contribution to journalArticle

Open Access
26 Scopus citations

Fluorescence in situ hybridization detectable mosaicism for Angelman syndrome with biparental methylation

Tekin, M., Jackson-Cook, C., Buller, A., Ferreira-Gonzalez, A., Pandya, A., Garrett, C. T. & Bodurtha, J., Nov 13 2000, In : American journal of medical genetics. 95, 2, p. 145-149 5 p.

Research output: Contribution to journalArticle

10 Scopus citations

Genotype-phenotype correlation in a large group of Turkish patients with familial Mediterranean fever: Evidence for mutation-independent amyloidosis

Yalçinkaya, F., Çakar, N., Misirlioǧlu, M., Tümer, N., Akar, N., Tekin, M., Taştan, H., Koçak, H., Özkaya, N. & Elhan, A. H., Jan 2000, In : Rheumatology. 39, 1, p. 67-72 6 p.

Research output: Contribution to journalArticle

Open Access
138 Scopus citations

MEFV mutations in multiplex families with familial Mediterranean fever: Is a particular genotype necessary for amyloidosis?

Tekin, M., Yalçinkaya, F., Çakar, N., Akar, N., Misirlioǧlu, M., Taştan, H. & Tümer, N., Jun 27 2000, In : Clinical Genetics. 57, 6, p. 430-434 5 p.

Research output: Contribution to journalArticle

36 Scopus citations

Ophthalmo-acromelic syndrome: Report and review

Tekin, M., Tutar, E., Arsan, S., Atay, G. & Bodurtha, J., Jan 17 2000, In : American journal of medical genetics. 90, 2, p. 150-154 5 p.

Research output: Contribution to journalArticle

20 Scopus citations

Oromandibular-limb hypogenesis spectrum and maternal lithium use

Tekin, M. & Ellison, J., Jan 1 2000, In : Clinical Dysmorphology. 9, 2, p. 139-141 3 p.

Research output: Contribution to journalArticle

6 Scopus citations

Validation of a multiplex methylation-sensitive PCR assay for the diagnosis of Prader-Willi and Angelman's syndromes

Buller, A., Pandya, A., Jackson-Cook, C., Bodurtha, J., Tekin, M., Wilkinson, D. S., Garrett, C. T. & Ferreira-Gonzalez, A., Jan 1 2000, In : Molecular Diagnosis. 5, 3, p. 239-243 5 p.

Research output: Contribution to journalArticle

10 Scopus citations
2001

Advances in hereditary deafness

Tekin, M., Arnos, K. S. & Pandya, A., Sep 29 2001, In : Lancet. 358, 9287, p. 1082-1090 9 p.

Research output: Contribution to journalArticle

107 Scopus citations

Characterization of a heritable partial monosomy 18p by molecular and cytogenetic analysis

Tekin, M., Jackson-Cook, C. & Pandya, A., Nov 15 2001, In : American journal of medical genetics. 104, 1, p. 37-41 5 p.

Research output: Contribution to journalArticle

24 Scopus citations

Connexin 26 (GJB2) mutations in the Turkish population: Implications for the origin and high frequency of the 35delG mutation in Caucasians

Tekin, M., Akar, N., Cin, Ş., Blanton, S. H., Xia, X. J., Liu, X. Z., Nance, W. E. & Pandya, A., Jan 1 2001, In : Human Genetics. 108, 5, p. 385-389 5 p.

Research output: Contribution to journalArticle

59 Scopus citations

Familial Mediterranean fever (FMF)-associated amyloidosis in childhood. Clinical features, course and outcome

Çakar, N., Yalçinkaya, F., Özkaya, N., Tekin, M., Akar, N., Koçak, H., Misirlioǧlu, M., Akar, E. & Tümer, N., Dec 1 2001, In : Clinical and Experimental Rheumatology. 19, 5 SUPPL. 24, p. S63-S67

Research output: Contribution to journalArticle

38 Scopus citations

Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness

Liu, X. Z., Xia, X. J., Adams, J., Chen, Z. Y., Welch, K. O., Tekin, M., Ouyang, X. M., Kristiansen, A., Pandya, A., Balkany, T., Arnos, K. S. & Nance, W. E., Dec 1 2001, In : Human molecular genetics. 10, 25, p. 2945-2951 7 p.

Research output: Contribution to journalArticle

Open Access
112 Scopus citations

Possible effects of antioxidant status on increased platelet aggregation in childhood iron-deficiency anemia

Tekin, D., Yavuzer, S., Tekin, M., Akar, N. & Cin, S., Mar 6 2001, In : Pediatrics International. 43, 1, p. 74-77 4 p.

Research output: Contribution to journalArticle

43 Scopus citations

W44C mutation in the connexin 26 gene associated with dominant non-syndromic deafness

Tekin, M., Arnos, K. S., Xia, X. J., Oelrich, M. K., Liu, X. Z., Nance, W. E. & Pandya, A., Apr 28 2001, In : Clinical Genetics. 59, 4, p. 269-273 5 p.

Research output: Contribution to journalArticle

18 Scopus citations

Waardenburg syndrome type 3 (Klein - Waardenburg syndrome) segregating with a heterozygous deletion in the paired box domain of PAX3: A simple variant or a true sydrome?

Tekin, M., Bodurtha, J. N., Nance, W. E. & Pandya, A., Nov 12 2001, In : Clinical Genetics. 60, 4, p. 301-304 4 p.

Research output: Contribution to journalArticle

13 Scopus citations
2002

657de15 mutation in the NBS1 gene is associated with Nijmegen breakage syndrome in a Turkish family

Tekin, M., Doǧu, F., Taçyildiz, N., Akar, E., Ikincioǧullari, A., Oǧur, G., Yavuz, G., Babacan, E. & Akar, N., Jul 1 2002, In : Clinical Genetics. 62, 1, p. 84-88 5 p.

Research output: Contribution to journalArticle

7 Scopus citations

Antistreptococcal response is exaggerated in children with familial Mediterranean fever

Yalçinkaya, F., Ince, E., Uçar, T., Özkaya, N., Tekin, M., Elhan, A. H., Tutar, E., Güriz, D. H., Aysev, D., Gökdemir, R., Doǧru, Ü. & Tümer, N., Sep 1 2002, In : Clinical Rheumatology. 21, 5, p. 378-381 4 p.

Research output: Contribution to journalArticle

16 Scopus citations

Arthritis in children with familial mediterranean fever

Ïnce, E., Çakar, N., Tekin, M., Kendirli, T. I., Özkaya, N., Akar, N. & YalçInkaya, F., Apr 27 2002, In : Rheumatology International. 21, 6, p. 213-217 5 p.

Research output: Contribution to journalArticle

39 Scopus citations

Dominant myocardial disease diagnosed by fetal presentation of proband with an aneurysm of the muscular interventricular septum

Donofrio, M. T., Allen, D. R., Tekin, M. & Bodurtha, J., Jan 1 2002, In : Pediatric Cardiology. 23, 1, p. 27-31 5 p.

Research output: Contribution to journalArticle

10 Scopus citations

Molecular characterization of a ring X chromosome in a male with short stature

Ellison, J. W., Tekin, M., Sikes, K. S., Yankowitz, J., Shapiro, L., Rappold, G. A. & Neely, E. K., Apr 1 2002, In : Human Genetics. 110, 4, p. 322-326 5 p.

Research output: Contribution to journalArticle

1 Scopus citations

Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly

Ming, J. E., Kaupas, M. E., Roessler, E., Brunner, H. G., Golabi, M., Tekin, M., Stratton, R. F., Sujansky, E., Bale, S. J. & Muenke, M., Apr 1 2002, In : Human Genetics. 110, 4, p. 297-301 5 p.

Research output: Contribution to journalArticle

178 Scopus citations
2003

Frequency of mtDNA A1555G and A7445G mutations among children with prelingual deafness in Turkey

Tekin, M., Duman, T., Boǧoçlu, G., Incesulu, A., Çomak, E., Fitoz, S., Yilmaz, E., IIhan, I. & Akar, N., Mar 1 2003, In : European Journal of Pediatrics. 162, 3, p. 154-158 5 p.

Research output: Contribution to journalArticle

59 Scopus citations

Moderate hearing loss and pseudodominant inheritance due to L90P/35delG mutations in the GJB2 (connexin 26) gene

Tekin, M., Duman, T., Boǧoçlu, G., Incesulu, A., Cin, Ş. & Akar, N., Dec 1 2003, In : Genetic Counseling. 14, 4, p. 379-386 8 p.

Research output: Contribution to journalArticle

10 Scopus citations

Spectrum of GJB2 mutations in Turkey comprises both Caucasian and Oriental variants: roles of parental consanguinity and assortative mating.

Tekin, M., Duman, T., Bogoçlu, G., Incesulu, A., Comak, E., Ilhan, I. & Akar, N., May 2003, In : Human mutation. 21, 5, p. 552-553 2 p.

Research output: Contribution to journalArticle

48 Scopus citations

Type I collagen triplet duplication mutation in lethal osteogenesis imperfecta shifts register of α chains throughout the helix and disrupts incorporation of mutant helices into fibrils and extracellular matrix

Cabral, W. A., Mertts, M. V., Makareeva, E., Colige, A., Tekin, M., Pandya, A., Leikin, S. & Marini, J. C., Mar 21 2003, In : Journal of Biological Chemistry. 278, 12, p. 10006-10012 7 p.

Research output: Contribution to journalArticle

23 Scopus citations
2004

Assessment of ventricular repolarization in a large group of children with early onset deafness

Tutar, E., Tekin, M., Uçar, T., Çomak, E., Öcal, B. & Atalay, S., Sep 1 2004, In : PACE - Pacing and Clinical Electrophysiology. 27, 9, p. 1217-1220 4 p.

Research output: Contribution to journalArticle

6 Scopus citations

The KBG syndrome: Confirmation of autosomal dominant inheritance and further delineation of the phenotype

Tekin, M., Kavaz, A., Berberoǧlu, M., Fitoz, S., Ekim, M., Öcal, G. & Akar, N., Oct 15 2004, In : American Journal of Medical Genetics. 130 A, 3, p. 284-287 4 p.

Research output: Contribution to journalArticle

19 Scopus citations
2005

657del5 mutation of the Nijmegen breakage syndrome gene (NBS1) in the Turkish population

Tekin, M., Akcayoz, D., Ucar, C., Gulen, H. & Akar, N., Jun 2005, In : Human Biology. 77, 3, p. 393-397 5 p.

Research output: Contribution to journalArticle

3 Scopus citations

A novel missense mutation in a C2 domain of OTOF results in autosomal recessive auditory neuropathy

Tekin, M., Akcayoz, D. & Incesulu, A., Sep 15 2005, In : American Journal of Medical Genetics. 138 A, 1, p. 6-10 5 p.

Research output: Contribution to journalArticle

43 Scopus citations

Bilateral coronary artery dilatation and supravalvular pulmonary stenosis in a child with Noonan syndrome

Uçar, T., Atalay, S., Tekin, M. & Tutar, E., Dec 1 2005, In : Pediatric Cardiology. 26, 6, p. 848-850 3 p.

Research output: Contribution to journalArticle

17 Scopus citations

Characteristics of hyperthermia and its complications in patients with Prader Willi syndrome

Ince, E., Çiftçi, E., Tekin, M., Kendirli, T., Tutar, E., Dalgiç, N., Öncel, S. & Dogru, Ü., Oct 1 2005, In : Pediatrics International. 47, 5, p. 550-553 4 p.

Research output: Contribution to journalArticle

11 Scopus citations

Evidence for single origins of 35delG and delE120 mutations in the GJB2 gene in Anatolia

Tekin, M., Boǧoclu, G., Arican, S. T., Orman, M. N., Tastan, H., Elsayed, S. & Akar, N., Jan 1 2005, In : Clinical Genetics. 67, 1, p. 31-37 7 p.

Research output: Contribution to journalArticle

32 Scopus citations

Familial Mediterranean Fever (FMF) in Turkey: Results of a nationwide multicenter study

Tunca, M., Ozdogan, H., Kasapcopur, O., Yalcinkaya, F., Tutar, E., Topaloglu, R., Yilmaz, E., Arici, M., Bakkaloglu, A., Besbas, N., Akpolat, T., Dinc, A., Erken, E., Tirpan, K., Ozer, H. T. E., Soyturk, M., Senturk, T., Balci, B., Ozguc, M., Dundar, M. & 85 others, Akar, E., Ozel, D., Dundar, M., Gunesacar, R., Booth, D. R., Hawkins, P. N., Touitou, I., Aksentijevich, I., Matzner, Y., Arslan, S., Balaban, Y., Batman, F., Bayraktar, Y., Apras, S., Calguneri, M., Duzova, A., Kav, T., Ozaltin, F., Simsek, H., Sivri, B., Tatar, G., Akkoc, N., Kavukcu, S., Soylu, A., Turkmen, M., Unsal, E., Arisoy, N., Caliskan, S., Gogus, F., Masatlioglu, S., Sever, L., Akkok, N., Cakar, N., Kara, N., Kocak, H., Ozalp, S., Bilge, I., Sevinc, E., Gul, A., Kamali, S., Sadikoglu, B., Selcukbiricik, F., Sirin, A., Sucu, A., Bek, K., Bulbul, M., Delibas, A., Demircin, G., Erdogan, O., Oner, A., Mesiha, E., Ozkaya, N., Tekin, M., Demirkaya, E., Erdem, H., Gok, F., Pay, S., Islek, I., Kabasakal, Y., Keser, G., Ozmen, M., Akoglu, E., Atagunduz, P., Direskeneli, H., Temel, M., Tuglular, S., Buyan, N., Bakkaloglu, S., Derici, U., Goker, B., Kalman, S., Ozkaya, O., Dusunsel, R., Gunduz, Z., Poyrazoglu, M. H., Korkmaz, C., Baskin, E., Koseoglu, H. K., Saatci, U., Yucel, E., Coban, E., Yakupoglu, G., Oktem, F., Tunc, E. & Cobankara, V., Jan 1 2005, In : Medicine. 84, 1, p. 1-11 11 p.

Research output: Contribution to journalArticle

519 Scopus citations

GJB2 mutations and degree of hearing loss: A multicenter study

Snoeckx, R. L., Huygen, P. L. M., Feldmann, D., Marlin, S., Denoyelle, F., Waligora, J., Mueller-Malesinska, M., Pollak, A., Ploski, R., Murgia, A., Orzan, E., Castorina, P., Ambrosetti, U., Nowakowska-Szyrwinska, E., Bal, J., Wiszniewski, W., Janecke, A. R., Nekahm-Heis, D., Seeman, P., Bendova, O. & 44 others, Kenna, M. A., Frangulov, A., Rehm, H. L., Tekin, M., Incesulu, A., Dahl, H. H. M., Du Sart, D., Jenkins, L., Lucas, D., Bitner-Glindzicz, M., Avraham, K. B., Brownstein, Z., Del Castillo, I., Moreno, F., Blin, N., Pfister, M., Sziklai, I., Toth, T., Kelley, P. M., Cohn, E. S., Van Maldergem, L., Hilbert, P., Roux, A. F., Mondain, M., Hoefsloot, L. H., Cremers, C. W. R. J., Löppönen, T., Löppönen, H., Parving, A., Gronskov, K., Schrijver, I., Roberson, J., Gualandi, F., Martini, A., Lina-Granade, G., Pallares-Ruiz, N., Correia, C., Fialho, G., Cryns, K., Hilgert, N., Van De Heyning, P., Nishimura, C. J., Smith, R. J. H. & Van Camp, G., Dec 2005, In : American journal of human genetics. 77, 6, p. 945-957 13 p.

Research output: Contribution to journalArticle

340 Scopus citations

Meningococccal meningitis and complement component 6 deficiency associated with oculocutaneous albinism

Ikinciogullari, A., Tekin, M., Dogu, F., Reisli, I., Tanir, G., Yi, Z., Garrison, N., Brilliant, M. H. & Babacan, E., Mar 1 2005, In : European Journal of Pediatrics. 164, 3, p. 177-179 3 p.

Research output: Contribution to journalArticle

4 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