• 6246 Citations
19972020

Research output per year

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

Research Output

Filter
Article

Frequent detection of parental consanguinity in children with developmental disorders by a combined CGH and SNP microarray

Fan, Y. S., Ouyang, X., Peng, J., Sacharow, S., Tekin, M., Barbouth, D., Bodamer, O., Yusupov, R., Navarrete, C., Heller, A. H. & Pena, S. D., Sep 24 2013, In : Molecular Cytogenetics. 6, 1, 38.

Research output: Contribution to journalArticle

13 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

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

FOXF2 is required for cochlear development in humans and mice

Bademci, G., Abad, C., Incesulu, A., Elian, F., Reyahi, A., Diaz-Horta, O., Cengiz, F. B., Sineni, C. J., Seyhan, S., Atli, E. I., Basmak, H., Demir, S., Nik, A. M., Footz, T., Guo, S., Duman, D., Fitoz, S., Gurkan, H., Blanton, S. H., Walter, M. A. & 3 others, Carlsson, P., Walz, K. & Tekin, M., Apr 15 2019, In : Human molecular genetics. 28, 8, p. 1286-1297 12 p.

Research output: Contribution to journalArticle

4 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

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

32 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

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

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 (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

509 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

Familial 16q24.3 microdeletion involving ANKRD11 causes a KBG-like syndrome

Sacharow, S., Li, D., Fan, Y. S. & Tekin, M., Mar 1 2012, In : American Journal of Medical Genetics, Part A. 158 A, 3, p. 547-552 6 p.

Research output: Contribution to journalArticle

28 Scopus citations

FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing

Diaz-Horta, O., Subasioglu-Uzak, A., Grati, MH., DeSmidt, A., Foster, J., Cao, L., Bademci, G., Tokgoz-Yilmaz, S., Duman, D., Cengiz, F. B., Abad, C., Mittal, R., Blanton, S., Liu, X. Z., Farooq, A., Walz, K., Lu, Z. & Tekin, M., Jul 8 2014, In : Proceedings of the National Academy of Sciences of the United States of America. 111, 27, p. 9864-9868 5 p.

Research output: Contribution to journalArticle

41 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

31 Scopus citations

Evidence for genotype-phenotype correlation for OTOF mutations

Yildirim-Baylan, M., Bademci, G., Duman, D., Ozturkmen-Akay, H., Tokgoz-Yilmaz, S. & Tekin, M., Jun 2014, In : International Journal of Pediatric Otorhinolaryngology. 78, 6, p. 950-953 4 p.

Research output: Contribution to journalArticle

6 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

17 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

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

Dysfunction of GRAP, encoding the GRB2-related adaptor protein, is linked to sensorineural hearing loss

Li, C., Bademci, G., Subasioglu, A., Diaz-Horta, O., Zhu, Y., Liu, J., Mitchell, T. G., Abad, C., Seyhan, S., Duman, D., Cengiz, F. B., Tokgoz-Yilmaz, S., Blanton, S. H., Farooq, A., Walz, K., Zhai, R. G. & Tekin, M., Jan 22 2019, In : Proceedings of the National Academy of Sciences of the United States of America. 116, 4, p. 1347-1352 6 p.

Research output: Contribution to journalArticle

2 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

DNASE1L3 mutations in hypocomplementemic urticarial vasculitis syndrome

Özçakar, Z. B., Foster, J., Diaz-Horta, O., Kasapcopur, O., Fan, Y. S., Yalçinkaya, F. & Tekin, M., Aug 1 2013, In : Arthritis and Rheumatism. 65, 8, p. 2183-2189 7 p.

Research output: Contribution to journalArticle

51 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 1 2007, In : Neurology. 69, 13, p. 1350-1355 6 p.

Research output: Contribution to journalArticle

17 Scopus citations

Digestion of Chromatin in Apoptotic Cell Microparticles Prevents Autoimmunity

Sisirak, V., Sally, B., D'Agati, V., Martinez-Ortiz, W., Özçakar, Z. B., David, J., Rashidfarrokhi, A., Yeste, A., Panea, C., Chida, AS. S., Bogunovic, M., Ivanov, II. I., Quintana, FJ. J., Sanz, I., Elkon, KB. B., Tekin, M., Yalçınkaya, F., Cardozo, TJ. J., Clancy, RM. M., Buyon, JP. P. & 1 others, Reizis, B., Jun 30 2016, In : Cell. 166, 1, p. 88-101 14 p.

Research output: Contribution to journalArticle

118 Scopus citations

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

Undiagnosed Diseases Network, Aug 1 2019, In : American journal of human genetics. 105, 2, p. 413-424 12 p.

Research output: Contribution to journalArticle

2 Scopus citations

De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis

Thorson, W., Diaz-Horta, O., Foster, J., Spiliopoulos, M., Quintero, R., Farooq, A., Blanton, S. & Tekin, M., Jun 2014, In : Human Genetics. 133, 6, p. 737-742 6 p.

Research output: Contribution to journalArticle

46 Scopus citations

Delayed presentation of rickets in a child with labyrinthine aplasia, microtia and microdontia (LAMM) syndrome

Singh, A., Tekin, M., Falcone, M. & Kapoor, S., Jan 1 2014, In : Indian Pediatrics. 51, 11, p. 919-920 2 p.

Research output: Contribution to journalArticle

2 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

Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel

on behalf of the ClinGen Hearing Loss Working Group, Nov 1 2019, In : Genetics in Medicine. 21, 11, p. 2442-2452 11 p.

Research output: Contribution to journalArticle

4 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

58 Scopus citations

Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort

Bademci, G., Foster, J., Mahdieh, N., Bonyadi, M., Duman, D., Cengiz, F. B., Menendez, I., Diaz-Horta, O., Shirkavand, A., Zeinali, S., Subasioglu, A., Tokgoz-Yilmaz, S., Huesca-Hernandez, F., De La Luz Arenas-Sordo, M., Dominguez-Aburto, J., Hernandez-Zamora, E., Montenegro, P., Paredes, R., Moreta, G., Vinueza, R. & 11 others, Villegas, F., Mendoza-Benitez, S., Guo, S., Bozan, N., Tos, T., Incesulu, A., Sennaroglu, G., Blanton, S. H., Ozturkmen-Akay, H., Yildirim-Baylan, M. & Tekin, M., Apr 1 2016, In : Genetics in Medicine. 18, 4, p. 364-371 8 p.

Research output: Contribution to journalArticle

53 Scopus citations

Comprehensive analysis of deafness genes in families with autosomal recessive nonsyndromic hearing loss

Atik, T., Onay, H., Aykut, A., Bademci, G., Kirazli, T., Tekin, M. & Ozkinay, F., Nov 1 2015, In : PLoS One. 10, 11, e0142154.

Research output: Contribution to journalArticle

29 Scopus citations

Complement activation by ligand-driven juxtaposition of discrete pattern recognition complexes

Degn, S. E., Kjaer, T. R., Kidmose, R. T., Jensen, L., Hansen, A. G., Tekin, M., Jensenius, J. C., Andersen, G. R. & Thiel, S., Sep 16 2014, In : Proceedings of the National Academy of Sciences of the United States of America. 111, 37, p. 13445-13450 6 p.

Research output: Contribution to journalArticle

37 Scopus citations

Common genes for non-syndromic deafness are uncommon in sub-Saharan Africa: A report from Nigeria

Lasisi, A. O., Bademci, G., Foster, J., Blanton, S. & Tekin, M., Nov 1 2014, In : International Journal of Pediatric Otorhinolaryngology. 78, 11, p. 1870-1873 4 p.

Research output: Contribution to journalArticle

17 Scopus citations
10 Scopus citations

Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations

Montalcino Aortic Consortium, Oct 1 2018, In : Genetics in Medicine. 20, 10, p. 1206-1215 10 p.

Research output: Contribution to journalArticle

10 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

71 Scopus citations

ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs

on behalf of the ClinGen Hearing Loss Clinical Domain Working Group, Oct 1 2019, In : Genetics in Medicine. 21, 10, p. 2239-2247 9 p.

Research output: Contribution to journalArticle

8 Scopus citations

Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome

Walz, K., Cohen, D., Neilsen, P. M., Foster, J., Brancati, F., Demir, K., Fisher, R., Moffat, M., Verbeek, N. E., Bjørgo, K., Lo Castro, A., Curatolo, P., Novelli, G., Abad, C., Lei, C., Zhang, L., Diaz-Horta, O., Young, J. I., Callen, D. F. & Tekin, M., Jan 13 2015, In : Human genetics. 134, 2, p. 181-190 10 p.

Research output: Contribution to journalArticle

22 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

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

10 Scopus citations

Challenges in whole exome sequencing: An example from hereditary deafness

Sirmaci, A., Edwards, Y. J. K., Akay, H. & Tekin, M., Feb 21 2012, In : PloS one. 7, 2, e32000.

Research output: Contribution to journalArticle

31 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

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

17 Scopus citations

Broadening the phenotype of DFNB28: Mutations in TRIOBP are associated with moderate, stable hereditary hearing impairment

Wesdorp, M., van de Kamp, J. M., Hensen, E. F., Schraders, M., Oostrik, J., Yntema, H. G., Feenstra, I., Admiraal, R. J. C., Kunst, H. P. M., Tekin, M., Kanaan, M., Kremer, H. & Pennings, R. J. E., May 30 2016, (Accepted/In press) In : Hearing Research.

Research output: Contribution to journalArticle

7 Scopus citations

Branchio-oculo-facial syndrome in a newborn caused by a novel TFAP2A mutation

Güneş, N., Cengiz, F. B., Duman, D., Dervişoǧlu, S., Tekin, M. & Tüysüz, B., 2014, In : Genetic Counseling. 25, 1, p. 41-47 7 p.

Research output: Contribution to journalArticle

3 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

Autozygosity in a Turkish family with scoliosis, blindness, and arachnodactyly syndrome

Orenay-Boyacioglu, S., Tekin, M. & Dundar, M., Nov 1 2015, In : Annals of Saudi Medicine. 35, 6, p. 462-467 6 p.

Research output: Contribution to journalArticle

Autosomal dominant inheritance in a recently described ZMIZ1-related neurodevelopmental disorder: Case report of siblings and an affected parent

Latchman, K., Calder, M., Morel, D., Rhodes, L., Juusola, J. & Tekin, M., Jan 1 2019, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

A unique case of vision loss in a patient with hypotrichosis and juvenile macular dystrophy and primary ciliary dyskinesia

Fan, K. C., Patel, N. A., Yannuzzi, N. A., Prakhunhungsit, S., Negron, C. I., Basora, E., Colin, A. A., Tekin, M. & Berrocal, A. M., Sep 1 2019, In : American Journal of Ophthalmology Case Reports. 15, 100486.

Research output: Contribution to journalArticle

Open Access