• 5973 Citations
19972022
If you made any changes in Pure, your changes will be visible here soon.

Research Output 1997 2020

  • 5973 Citations
  • 209 Article
  • 4 Review article
  • 2 Comment/debate
  • 1 Chapter
Filter
Article
1997
32 Citations (Scopus)

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

Familial Mediterranean Fever
Arthritis
Colchicine
Amyloidosis
Vasculitis
1998
1 Citation (Scopus)

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

Zinc
Zinc Sulfate
deferiprone
Healthy Volunteers
Urine
11 Citations (Scopus)

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

beta-Thalassemia
Platelet Activation
Preschool Children
Platelet Aggregation
Free Radicals
Deferoxamine
beta-Thalassemia
Superoxide Dismutase
Serum
Therapeutics
1999
14 Citations (Scopus)

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

Familial Mediterranean Fever
Rheumatic Fever
varespladib methyl
Antistreptolysin
Rheumatic Heart Disease
49 Citations (Scopus)

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

Familial Mediterranean Fever
Amyloid
Kidney
Vasculitis
Fever
24 Citations (Scopus)

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

Multiple Abnormalities
Recessive Genes
Consanguinity
Fatal Outcome
Family Health
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

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

Deferoxamine
beta-Thalassemia
Zinc
Copper
Therapeutics

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
Rheumatology
Genetic Association Studies
Amyloidosis
Mutation
25 Citations (Scopus)

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

Familial Mediterranean Fever
Amyloidosis
Consanguinity
Mutation
Colchicine
10 Citations (Scopus)

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

Angelman Syndrome
Mosaicism
Fluorescence In Situ Hybridization
Methylation
snRNP Core Proteins
135 Citations (Scopus)

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

Familial Mediterranean Fever
Genetic Association Studies
Amyloidosis
Mutation
Missense Mutation
36 Citations (Scopus)

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

Familial Mediterranean Fever
Amyloidosis
Genotype
Fever
Mutation
20 Citations (Scopus)

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

Anophthalmos
Waardenburg Syndrome
Microphthalmos
Inferior Vena Cava
Extremities
6 Citations (Scopus)

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

Lithium
Extremities
Mothers
Pregnancy
10 Citations (Scopus)

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

Angelman Syndrome
Prader-Willi Syndrome
Methylation
Polymerase Chain Reaction
DNA
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
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
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
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
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