• 5973 Citations
19972022
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Research Output 1997 2020

  • 5973 Citations
  • 209 Article
  • 4 Review article
  • 2 Comment/debate
  • 1 Chapter
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Article
2012
60 Citations (Scopus)

Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss

Yariz, K. O., Duman, D., Seco, C. Z., Dallman, J., Huang, M., Peters, T. A., Sirmaci, A., Lu, N., Schraders, M., Skromne, I., Oostrik, J., Diaz-Horta, O., Young, J., Tokgoz-Yilmaz, S., Konukseven, O., Shahin, H., Hetterschijt, L., Kanaan, M., Oonk, A. M. M., Edwards, Y. J. K. & 10 others, Li, H., Atalay, S., Blanton, S. H., Desmidt, A. A., Liu, X. Z., Pennings, R. J. E., Lu, Z., Chen, Z. Y., Kremer, H. & Tekin, M., Nov 2 2012, In : American Journal of Human Genetics. 91, 5, p. 872-882 11 p.

Research output: Contribution to journalArticle

Sensorineural Hearing Loss
Inner Ear
Mutation
Proteins
Morpholinos
22 Citations (Scopus)

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

Iran
Mutation
Population
Frameshift Mutation
Hearing Loss
13 Citations (Scopus)

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

Mexico
Mutation
Deafness
Hearing Loss
Genes
97 Citations (Scopus)

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., Zuchner, S. L., Blanton, S. H. & Tekin, M., Nov 30 2012, In : PLoS One. 7, 11, e50628.

Research output: Contribution to journalArticle

Exome
Audition
hearing
mutation
Genes
2011
2 Citations (Scopus)

Arnavut popülasyonunda FV G1691A ve PT G20210A mutasyonu si{dotless}kli{dotless}ǧi{dotless}

Translated title of the contribution: The frequency of FV G1691A and PT G20210A mutations in an albanian populationAvni Atay, A., Tekin, M., Allajalebeu, K., Eǧin, Y. & Akar, N., Aug 30 2011, In : Turkish Journal of Hematology. 28, 3, p. 241-242 2 p.

Research output: Contribution to journalArticle

Mutation
Population
5 Citations (Scopus)

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 1 2011, In : International Journal of Pediatric Otorhinolaryngology. 75, 3, p. 433-437 5 p.

Research output: Contribution to journalArticle

Hearing
Hearing Loss
Mutation
Communication
Parturition
17 Citations (Scopus)

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

Palmoplantar Keratoderma
Alopecia
Cardiomyopathies
Mutation
gamma Catenin
42 Citations (Scopus)

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

Research output: Contribution to journalArticle

LH Receptors
Chorionic Gonadotropin
Mutation
Siblings
Exome
1 Citation (Scopus)

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

Mutation
Connexins
Genes
Connexin 43
Sensorineural Hearing Loss
106 Citations (Scopus)

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. H., Digilio, M. C., Dallapiccola, B., Young, J., Zuchner, S. L. & Tekin, M., Aug 12 2011, In : American Journal of Human Genetics. 89, 2, p. 289-294 6 p.

Research output: Contribution to journalArticle

Intellectual Disability
Mutation
Ankyrin Repeat
Exome
Neurons
16 Citations (Scopus)

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

Pyridoxal Phosphate
Folate Receptor 1
Folic Acid
Dihydroxyphenylalanine
Seizures
48 Citations (Scopus)

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

Turkey
Mutation
Genes
Deafness
Nonsyndromic Deafness
2010
17 Citations (Scopus)

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

Fibroblast Growth Factor 3
Inner Ear
Mutation
External Ear
Tomography
32 Citations (Scopus)

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. L., 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

Hearing Loss
Deafness
Inner Ear
Inner Auditory Hair Cells
Mutation
40 Citations (Scopus)

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 1 2010, In : Annals of Human Genetics. 74, 2, p. 155-164 10 p.

Research output: Contribution to journalArticle

Mongolia
Gene Frequency
Deafness
Hearing
Mutation
2 Citations (Scopus)

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

Deafness
Heart Rate
Mutation
Autonomic Nervous System
Electrocardiography
26 Citations (Scopus)

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

Founder Effect
Mutation
Genes
Algeria
Lebanon
89 Citations (Scopus)

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

Umbilicus
Mutation
Mannose-Binding Protein-Associated Serine Proteases
Blepharophimosis
Mixed Conductive-Sensorineural Hearing Loss
32 Citations (Scopus)

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

Deafness
Mutation
Population
Founder Effect
Sensorineural Hearing Loss
7 Citations (Scopus)

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

Genetic Counseling
Audition
Mutation
Genes
Sensorineural Hearing Loss
100 Citations (Scopus)

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

Kallmann Syndrome
Transcription Factors
Proteins
Missense Mutation
Puberty
2009
27 Citations (Scopus)

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

Branchio-Oto-Renal Syndrome
Inner Ear
Alleles
Deafness
Amino Acids
10 Citations (Scopus)

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

Hearing Loss
Mutation
Sensorineural Hearing Loss
Deafness
Heterozygote
30 Citations (Scopus)

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

15-hydroxyprostaglandin dehydrogenase
Primary Hypertrophic Osteoarthropathy
Mutation
Genes
Inborn Genetic Diseases
2 Citations (Scopus)

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

Walker-Warburg Syndrome
Newborn Infant
Muscular Dystrophies
Touch
Noise
73 Citations (Scopus)

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., Jun 4 2009, In : Human Molecular Genetics. 18, 12, p. 2149-2165 17 p.

Research output: Contribution to journalArticle

Tropoelastin
Cell Survival
Mutation
Elastin
Nonsense Mediated mRNA Decay
34 Citations (Scopus)

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

Dentition
Tooth
Mutation
Tooth Abnormalities
Fossils
35 Citations (Scopus)

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

Sensorineural Hearing Loss
Mutation
Nonsense Codon
Mitochondrial DNA
Hearing Loss
36 Citations (Scopus)

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., Mar 27 2009, In : European Journal of Human Genetics. 17, 4, p. 517-524 8 p.

Research output: Contribution to journalArticle

Modifier Genes
Single Nucleotide Polymorphism
Hearing Loss
Mutation
Genome-Wide Association Study
2008
24 Citations (Scopus)

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

Molecular Epidemiology
Deafness
Pedigree
Marriage
Sign Language

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

Chromosome Disorders
Imperforate Anus
Cardiovascular Abnormalities
Hypertelorism
Coloboma
33 Citations (Scopus)

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

Fibroblast Growth Factor 3
Mutation
Deafness
Inner Ear
Tooth
194 Citations (Scopus)

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

Kallmann Syndrome
Chromatin Assembly and Disassembly
Mutation
CHARGE Syndrome
Proteins
9 Citations (Scopus)

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 1 2008, In : Pediatrics International. 50, 2, p. 172-174 3 p.

Research output: Contribution to journalArticle

Turner Syndrome
X Chromosome
Cognition
Wechsler Scales
Intelligence
17 Citations (Scopus)

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

Walker-Warburg Syndrome
Mutation
Genes
Eye Abnormalities
Lissencephaly
24 Citations (Scopus)

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

Tetralogy of Fallot
Congenital Heart Defects
Healthy Volunteers
Mutation
Fathers
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 1 2007, In : Pediatric Annals. 36, 3, p. 150-153 4 p.

Research output: Contribution to journalArticle

Eyelashes
Octreotide
Lymphedema
Vasoconstrictor Agents
Pleural Effusion
7 Citations (Scopus)

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

Mulibrey Nanism
Mutation
Nonsense Codon
Finland
Constriction
6 Citations (Scopus)

Contrast-enhanced MR angiography of thoracic vascular malformations in children

Fitoz, S., Unsal, N., Tekin, M. & Tutar, E., Dec 15 2007, In : International Journal of Cardiology. 123, 1, p. 3-11 9 p.

Research output: Contribution to journalArticle

Vascular Malformations
Magnetic Resonance Angiography
Thorax
Angiography
Tomography
17 Citations (Scopus)

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

Mutation
Mutant Proteins
Exons
Xenopus laevis
Oocytes
31 Citations (Scopus)

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

Marfan Syndrome
Mosaicism
Missense Mutation
Mutation
Genes
24 Citations (Scopus)
Deafness
Turkey
Epidemiologic Studies
Mutation
Population
72 Citations (Scopus)

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 1 2007, In : American Journal of Human Genetics. 80, 2, p. 338-344 7 p.

Research output: Contribution to journalArticle

Fibroblast Growth Factor 3
Deafness
Inner Ear
Mutation
Genes
1 Citation (Scopus)

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., Oct 31 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

Sensorineural Hearing Loss
Aminoglycosides
rRNA Genes
Mutation
Hearing Loss
16 Citations (Scopus)

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

Inner Ear
Mutation
Temporal Bone
Deafness
Genes
2006
8 Citations (Scopus)

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

Sebaceous of Jadassohn Nevus
PTEN Phosphohydrolase
Germ-Line Mutation
Nevus
Skin Neoplasms
18 Citations (Scopus)

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

Nephrotic Syndrome
Steroids
Mutation
Turkey
Genes
17 Citations (Scopus)

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

Hearing Loss
Genotype
Phenotype
Genetic Association Studies
Deafness
14 Citations (Scopus)

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

Mutation
Population
Gene Frequency
Genes
Egypt
35 Citations (Scopus)

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 1 2006, In : Human Genomics. 2, 4, p. 203-211 9 p.

Research output: Contribution to journalArticle

Hearing Loss
Alleles
Phenotype
Population
Deafness