• 6043 Citations
19972022

Research output per year

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Research Output

  • 6043 Citations
  • 210 Article
  • 4 Review article
  • 2 Comment/debate
  • 1 Chapter
1997

Protracted arthritis of familial Mediterranean fever (an unusual complication)

Yalçinkaya, F., Tekin, M., Tümer, N. & Özkaya, N., Jan 1 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

49 Scopus citations

Further family with possible autosomal recessive inheritance of Adams- Oliver syndrome [3]

Tekin, M., Bodurtha, J., Ciftci, E. & Arsan, S., Aug 25 1999, In : American Journal of Medical Genetics. 86, 1, p. 90-91 2 p.

Research output: Contribution to journalArticle

24 Scopus citations
2000

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

Tekin, M., Ng, J. & Bodurtha, J., Dec 7 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., Jun 20 2000, In : Acta Paediatrica, International Journal of Paediatrics. 89, 2, p. 177-182 6 p.

Research output: Contribution to journalArticle

70 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

Erratum: Genotype-phenotype correlation in a large group of Turkish patients with familial Mediterranean fever: Evidence for mutation-independent amyloidosis (Rheumatology (2000) vol. 39 (67-72))

Yalcinkaya, F., Cakar, N., Misirlioglu, M., Tumer, N., Akar, N., Tekin, M., Tastan, H., Kocak, H., Ozkaya, N. & Elhan, A. H., Jan 1 2000, In : Rheumatology. 39, 10

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., Oct 26 2000, In : QJM - Monthly Journal of the Association of Physicians. 93, 10, p. 681-684 4 p.

Research output: Contribution to journalArticle

25 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 1 2000, In : Rheumatology. 39, 1, p. 67-72 6 p.

Research output: Contribution to journalArticle

135 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., Apr 28 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., Oct 30 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

Café au lait spots: The pediatrician's perspective

Tekin, M., Bodurtha, J. N. & Riccardi, V. M., Dec 1 2001, In : Pediatrics in Review. 22, 3, p. 82-90 9 p.

Research output: Contribution to journalArticle

32 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., Jun 11 2001, In : Human Genetics. 108, 5, p. 385-389 5 p.

Research output: Contribution to journalArticle

57 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

Research output: Contribution to journalArticle

37 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

109 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

40 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

15 Scopus citations

Arthritis in children with familial mediterranean fever

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

Research output: Contribution to journalArticle

38 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

Erratum: Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly (Hum Genet (2002) 110 (297-301))

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., Oct 1 2002, In : Human Genetics. 111, 4-5

Research output: Contribution to journalArticle

1 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

176 Scopus citations
2003

A note on mutation analysis in familial Mediterranean fever [1]

Akar, N., Akar, E., Özel, D., Tekin, M., Ekim, M. & Yalçinkaya, F., Feb 1 2003, In : Pediatric Nephrology. 18, 2, p. 196-197 2 p.

Research output: Contribution to journalArticle

6 Scopus citations

Chudley-Mccullough syndrome: Expanded phenotype and review of the literature

Welch, K. O., Tekin, M., Nance, W. E., Blanton, S. H., Arnos, K. S. & Pandya, A., May 15 2003, In : American Journal of Medical Genetics. 119 A, 1, p. 71-76 6 p.

Research output: Contribution to journalArticle

12 Scopus citations

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

Screening the SLC26A4 gene in probands with deafness and goiter (Pendred syndrome) ascertained from a large group of students of the schools for the deaf in Turkey

Tekin, M., Akçayöz, D., Çomak, E., Boǧoçlu, G., Duman, T., Fitoz, S., Ilhan, I. & Akar, N., Oct 1 2003, In : Clinical Genetics. 64, 4, p. 371-374 4 p.

Research output: Contribution to journalArticle

12 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., Boǧoçlu, G., Incesulu, A., Comak, E., Ilhan, I. & Akar, N., May 1 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

22 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

17 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 1 2005, In : Human Biology. 77, 3, p. 393-397 5 p.

Research output: Contribution to journalArticle

3 Scopus citations

Alterations in the GJB3 and CLDN14 genes in families with nonsyndromic sensorineural hearing loss [2]

Arican, S. T., Incesulu, A., Inceoglu, B. & Tekin, M., Oct 31 2005, In : Genetic Counseling. 16, 3, p. 309-311 3 p.

Research output: Contribution to journalArticle

1 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

42 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

9 Scopus citations

Congenital contractural arachnodactyly, brachydactyly and sensorineural hearing loss: An unusual association [2]

Alptekin, N., Ozturk, E. A., Gok, H., Yalcin, P. & Tekin, M., Dec 1 2005, In : Genetic Counseling. 16, 4, p. 421-423 3 p.

Research output: Contribution to journalArticle

1 Scopus citations