• 5973 Citations
19972022
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Research Output 1997 2020

  • 5973 Citations
  • 209 Article
  • 4 Review article
  • 2 Comment/debate
  • 1 Chapter
2007
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
12 Citations (Scopus)

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

Deafness
Inner Ear
Sensorineural Hearing Loss
Cochlea
Otitis Media
6 Citations (Scopus)

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

Familial Mediterranean Fever
Amyloidosis
Amyloid
Alleles
Serum
35 Citations (Scopus)

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

Connexins
Agar Gel Electrophoresis
Sensorineural Hearing Loss
Gap Junctions
Gene Deletion
2005
3 Citations (Scopus)

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

Nijmegen Breakage Syndrome
breakage
mutation
Mutation
gene
1 Citation (Scopus)

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

Connexins
Sensorineural Hearing Loss
Gene Deletion
Preschool Children
Pedigree
42 Citations (Scopus)

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

Missense Mutation
Mutation
Parents
Pure-Tone Audiometry
Brain Stem Auditory Evoked Potentials
17 Citations (Scopus)

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

Noonan Syndrome
Pulmonary Valve Stenosis
Cardiovascular Abnormalities
Dilatation
Coronary Vessels
9 Citations (Scopus)

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

Prader-Willi Syndrome
Fever
Body Temperature Regulation
Septic Shock
Hypothermia
1 Citation (Scopus)

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

Brachydactyly
Funnel Chest
Connexins
Metacarpal Bones
Metatarsal Bones

Erratum: Evidence for single origins of 35delG and delE120 mutations in the GJB2 gene in Anatolia (Clinical Genetics (2005) vol. 67 (31-37))

Tekin, M., Boǧoclu, G., Arican, S. T., Orman, M. N., Tastan, H., Elsayed, S. & Akar, N., Mar 1 2005, In : Clinical Genetics. 67, 3

Research output: Contribution to journalArticle

Mutation
Genes
30 Citations (Scopus)

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

Mutation
Middle East
Sensorineural Hearing Loss
Egypt
Microsatellite Repeats
489 Citations (Scopus)

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

Familial Mediterranean Fever
Turkey
Multicenter Studies
Amyloidosis
Arthritis
328 Citations (Scopus)

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 1 2005, In : American Journal of Human Genetics. 77, 6, p. 945-957 13 p.

Research output: Contribution to journalArticle

Hearing Loss
Multicenter Studies
Mutation
Genotype
Homozygote

Letter to the editor [2] (multiple letters)

Toal, S. C., Lokhandwala, Y., Tutar, E. & Tekin, M., Feb 1 2005, In : PACE - Pacing and Clinical Electrophysiology. 28, 2, p. 175-176 2 p.

Research output: Contribution to journalArticle

3 Citations (Scopus)

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

Complement C6
Oculocutaneous Albinism
Meningococcal Meningitis
Consanguinity
Crystallins
2004
6 Citations (Scopus)

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

Deafness
Hearing
Heart Rate
Syncope
Jervell-Lange Nielsen Syndrome
17 Citations (Scopus)

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

Phenotype
Cryptorchidism
Incisor
Nuclear Family
Fathers
2003
6 Citations (Scopus)

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

DNA Mutational Analysis
Familial Mediterranean Fever
Amyloidosis
Molecular Biology
Mutation
12 Citations (Scopus)

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

Cerebral Ventricles
Deafness
Hydrocephalus
Phenotype
Siblings
59 Citations (Scopus)

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

Deafness
Turkey
Mitochondrial DNA
Mutation
RNA, Transfer, Ser
10 Citations (Scopus)

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

Hearing Loss
Deafness
Mutation
Genes
Sensorineural Hearing Loss
12 Citations (Scopus)

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

Connexins
X Ray Computed Tomography
Membrane Transport Proteins
Sensorineural Hearing Loss
Genetic Testing
47 Citations (Scopus)

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

Consanguinity
Turkey
Mutation
Homozygote
Alleles
22 Citations (Scopus)

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

Osteogenesis Imperfecta
Shift registers
Collagen Type I
Extracellular Matrix
Collagen
2002
7 Citations (Scopus)

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

Nijmegen Breakage Syndrome
Imperforate Anus
Microcephaly
Chromosomal Instability
Mutation
15 Citations (Scopus)

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

Familial Mediterranean Fever
Antistreptolysin
Rheumatic Fever
Antibodies
Pharyngitis
37 Citations (Scopus)

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

Familial Mediterranean Fever
Arthritis
Mutation
Sternoclavicular Joint
Foot Joints
10 Citations (Scopus)

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

Labor Presentation
Cardiomyopathies
Aneurysm
Fetus
Aneurysm Of Interventricular Septum
1 Citation (Scopus)

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

Holoprosencephaly
Viverridae
Mutation
1 Citation (Scopus)

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

Ring Chromosomes
X Chromosome
Gene Order
Genes
Cell Death
174 Citations (Scopus)

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

Holoprosencephaly
Mutation
Haploinsufficiency
Aptitude
Genetic Heterogeneity
2001
105 Citations (Scopus)

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

Deafness
Genes
Human Genome Project
Cochlea
Gene Library
32 Citations (Scopus)

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

Pigmentation Disorders
Cafe-au-Lait Spots
Neurofibromatosis 2
Fanconi Anemia
Tuberous Sclerosis
24 Citations (Scopus)

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

Monosomy
Chromosome Deletion
Cytogenetic Analysis
X Chromosome
Chromosomes
57 Citations (Scopus)

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

Mutation Rate
Mutation
Deafness
Population
Founder Effect
37 Citations (Scopus)

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

Familial Mediterranean Fever
Amyloidosis
Proteinuria
Colchicine
Nephrotic Syndrome
109 Citations (Scopus)

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

Connexin 43
Cochlea
Deafness
Mutation
Connexins
40 Citations (Scopus)

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

Iron-Deficiency Anemias
Platelet Aggregation
Antioxidants
Catalase
Superoxide Dismutase
18 Citations (Scopus)

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

Deafness
Mutation
Genes
Hearing Loss
France
13 Citations (Scopus)

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

Waardenburg Syndrome
Musculoskeletal Abnormalities
Extremities
Mutation
Genetic Association Studies
2000
4 Citations (Scopus)

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

Osteochondrodysplasias
Dwarfism
Microcephaly
Fetal Growth Retardation
Bone and Bones
70 Citations (Scopus)

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

Familial Mediterranean Fever
Vasculitis
Mutation
Schoenlein-Henoch Purpura
Polyarteritis Nodosa
5 Citations (Scopus)

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

Cleft Lip
Cleft Palate
Counseling
Extremities
Ectrodactyly-cleft lip-palate syndrome