M. Tekin

M. Tekin, N. Çakar, H. Gençgönül, 1999, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Autosomal recessive nonsyndromic deafness genes: a review.

M. Tekin, D. Duman, 2012, Frontiers in bioscience.

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

M. Tekin, H. Kremer, I. Feenstra, 2017, Hearing Research.

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

M. Tekin, X. Liu, S. Blanton, 2014, Proceedings of the National Academy of Sciences.

Unique spectrum of GJB2 mutations in Mexico.

M. Tekin, E. Hernández-Zamora, Paulina Murphy-Ruiz, 2012, International journal of pediatric otorhinolaryngology.

Unexpected heterogeneity due to recessive and de novo dominant mutations of GJB2 in an Iranian family with nonsyndromic hearing loss: implication for genetic counseling.

M. Tekin, S. Zeinali, N. Mahdieh, 2010, Biochemical and biophysical research communications.

Prolonged rooming-in in infancy is associated with generalized anxiety disorder in the adolescent period

M. Tekin, S. Yildirim, N. Kaymaz, 2015, International journal of adolescent medicine and health.

Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene

M. Tekin, K. Arnos, A. Pandya, 2009, European Journal of Human Genetics.

Relation between QT Variables and Left Ventricular Geometry in Athletes and Obese Children.

M. Tekin, F. Battal, H. Aylanç, 2016, Acta medica portuguesa.

A Case With Short Stature, Growth Hormone Deficiency and 46, XX, Xq27-qter Deletion.

M. Tekin, S. Yildirim, N. Topaloğlu, 2017, Acta medica Iranica.

SLC26A4 mutations are associated with a specific inner ear malformation.

M. Tekin, F. B. Cengiz, A. İncesulu, 2007, International journal of pediatric otorhinolaryngology.

Niikawa-Kuroki (Kabuki) syndrome with congenital sensorineural deafness: evidence for a wide spectrum of inner ear abnormalities.

M. Tekin, A. İncesulu, S. Fitoz, 2006, International journal of pediatric otorhinolaryngology.

Long-range cis-regulatory elements controlling GDF6 expression are essential for cochlear development.

D. Dykxhoorn, M. Tekin, C. Morton, 2020, The Journal of clinical investigation.

Genetic Causes of Inner Ear Anomalies: a Review from the Turkish Study Group for Inner Ear Anomalies

M. Tekin, D. Duman, E. Ocak, 2019, Balkan medical journal.

Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort.

M. Tekin, S. Blanton, F. B. Cengiz, 2017, International journal of pediatric otorhinolaryngology.

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

M. Tekin, N. Akar, E. Çomak, 2003, Clinical genetics.

The Effect of p.Arg25Cys Alteration in NKX2-5 on Conotruncal Heart Anomalies: Mutation or Polymorphism?

M. Tekin, B. Inceoğlu, S. Atalay, 2007, Pediatric Cardiology.

Personalized Medicine for Hereditary Deafness

M. Tekin, O. Díaz‐Horta, J. Ordóñez, 2015 .

Deafness and Myopia Syndrome

M. Tekin, J. Ordóñez, 2015 .

Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.

T. Walsh, M. King, M. Tekin, 2014, The New England journal of medicine.

Complete Heart Block Related to Mumps Myocarditis in an 80-Year-Old Woman

M. Tekin, G. Aşık, Ş. Özdinç, 2015 .

Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly

M. Tekin, H. Brunner, S. Bale, 2002, Human Genetics.

Noninvasive assessment of the retina and the choroid using enhanced-depth imaging optical coherence tomography shows microvascular impairments in childhood obesity.

M. Tekin, S. Kara, B. Gencer, 2016, Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus.

657del5 mutation in the NBS1 gene is associated with Nijmegen breakage syndrome in a Turkish family

M. Tekin, N. Akar, G. Oǧur, 2002, Clinical genetics.

Oxygen free radical-dependent increased platelet function in beta-thalassemia major patients.

M. Tekin, F. Violi, N. Akar, 1998, Thrombosis research.

The KBG syndrome: Confirmation of autosomal dominant inheritance and further delineation of the phenotype

M. Tekin, N. Akar, M. Eki̇m, 2004, American journal of medical genetics. Part A.

High frequency of kidney and urinary tract anomalies in asymptomatic first-degree relatives of patients with CAKUT

M. Tekin, D. Duman, K. Walz, 2013, Pediatric Nephrology.

Aminoglycoside induced ototoxicity associated with mitochondrial DNA mutations

M. Tekin, J. Foster, 2016 .

ATP6V1B1 mutations in distal renal tubular acidosis and sensorineural hearing loss: clinical and genetic spectrum of five families

M. Tekin, F. Yalçınkaya, E. Çomak, 2013, Renal failure.

A germline PTEN mutation with manifestations of prenatal onset and verrucous epidermal nevus

M. Tekin, C. Eng, N. Akar, 2006, American journal of medical genetics. Part A.

Photocurrent and hydrogen production by overall water splitting based on polymeric composite Calix[n]arene/Cyanin Dye/IrO2 nanoparticle

M. Tekin, H. Yildiz, S. Sayin, 2020 .

ABCA4 Mutation in a Patient With Juvenile Neuronal Ceroid Lipofuscinosis

M. Tekin, B. Lam, A. Berrocal, 2017 .

MORFAN Syndrome: An Infantile Hypoinsulinemic Hypoketotic Hypoglycemia Due to an AKT2 Mutation.

M. Tekin, G. Bademci, N. Garg, 2015, The Journal of pediatrics.

Serum ischemia-modified albumin levels in adolescent smokers

M. Tekin, F. Battal, H. Türkön, 2018, International journal of adolescent medicine and health.

Validation of a multiplex methylation-sensitive PCR assay for the diagnosis of Prader-Willi and Angelman's syndromes.

M. Tekin, A. Pandya, C. Jackson-Cook, 2000 .

Paternal X could relate to arithmetic function; study of cognitive function and parental origin of X chromosome in Turner syndrome

M. Tekin, N. Akar, Z. Aycan, 2008, Pediatrics international : official journal of the Japan Pediatric Society.

Meningococccal meningitis and complement component 6 deficiency associated with oculocutaneous albinism

M. Tekin, M. Brilliant, İ. Reisli, 2005, European Journal of Pediatrics.

Screening of 38 genes identifies mutations in 62% of families with nonsyndromic deafness in Turkey.

M. Tekin, F. B. Cengiz, D. Duman, 2011, Genetic testing and molecular biomarkers.

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

M. Tekin, M. Dundar, Seda Orenay-Boyacioglu, 2015, Annals of Saudi medicine.

Do we really ponder about necessity of intravenous hydration in acute bronchiolitis?

M. Tekin, F. Battal, H. Aylanç, 2016, Colombia medica.

Do we really ponder about necessity of intravenous hydration in acute bronchiolitis? ¿Realmente reflexionar sobre la necesidad de hidratación por vía intravenosa en la bronquiolitis aguda?

M. Tekin, F. Köksal, F. Battal, 2016 .

Correlation of ischemia-modified albumin levels and histopathologic findings in experimental ovarian torsion

M. Tekin, A. Kucuk, A. Yıldırım, 2016, Turkish journal of emergency medicine.

Possible effects of antioxidant status on increased platelet aggregation in childhood iron‐deficiency anemia

M. Tekin, N. Akar, D. Tekin, 2001, Pediatrics international : official journal of the Japan Pediatric Society.

Novel adenosine deaminase 2 mutations in a child with a fatal vasculopathy

M. Tekin, N. Garg, O. Kizilkilic, 2014, European Journal of Pediatrics.

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*

M. Tekin, A. Pandya, A. Colige, 2003, The Journal of Biological Chemistry.

Loss-of-function mutations in ATP 6 V 0 A 2 impair vesicular trafficking , tropoelastin secretion and cell survival

Abuelo, Björn, J. Al-Aama, 2009 .

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

M. Tekin, S. Sacharow, O. Bodamer, 2013, Molecular Cytogenetics.

ISCHEMIA-MODIFIED ALBUMIN AS AN OXIDATIVE STRESS BIOMARKER IN OBESE CHILDREN

M. Tekin, S. Cevizci, S. Yildirim, 2015 .

Clinical History and Management Recommendations of the Smooth Muscle Dysfunction Syndrome Due to ACTA2 Arginine 179 Alterations

M. Tekin, B. Lorenz, D. Milewicz, 2018, Genetics in Medicine.

The frequency of FV G1691A and PT G20210A mutations in an Albanian population.

M. Tekin, N. Akar, Y. Eğin, 2011, Turkish journal of haematology : official journal of Turkish Society of Haematology.

A complex TFAP2A allele is associated with branchio‐oculo‐facial syndrome and inner ear malformation in a deaf child

M. Tekin, L. Sennaroğlu, A. Sırmacı, 2009, American journal of medical genetics. Part A.

Evaluation of ferric carboxymaltose treatment efficacy in women with postpartum iron deficiency anemia

M. Tekin, Fulya Uzun, N. Uzun, 2021 .

Novel OTOF pathogenic variant segregating with non-syndromic hearing loss in a consanguineous family from tribal Rajouri in Jammu and Kashmir.

M. Tekin, Xue Zeng, K. Namba, 2019, International journal of pediatric otorhinolaryngology.

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

Michelle M. Falcone, M. Tekin, S. Kapoor, 2014, Indian Pediatrics.

Validation of a Multiplex Methylation-sensitive PCR Assay for the Diagnosis of Prader-Willi and Angelman’s Syndromes

M. Tekin, A. Pandya, C. Jackson-Cook, 2000, Molecular Diagnosis.

Characteristics of hyperthermia and its complications in patients with Prader Willi syndrome

M. Tekin, N. Dalgıç, E. Çiftçi, 2005, Pediatrics international : official journal of the Japan Pediatric Society.

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

Juan I. Young, M. Tekin, F. Brancati, 2015, Human Genetics.

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

M. Tekin, S. Sacharow, Yao-Shan Fan, 2012, American journal of medical genetics. Part A.

Fluorescence in situ hybridization detectable mosaicism for Angelman syndrome with biparental methylation.

M. Tekin, A. Pandya, C. Jackson-Cook, 2000, American journal of medical genetics.

Mutation screening of the GJA7 (Cx45) gene in a large international series of probands with nonsyndromic hearing impairment.

M. Tekin, X. Liu, D. Yan, 2011, Genetic testing and molecular biomarkers.

Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness.

M. Tekin, K. Arnos, A. Pandya, 2001, Human molecular genetics.

KBG syndrome: An Australian experience

M. Tekin, T. Roscioli, Meredith Wilson, 2017 .

Screening of deafness-causing DNA variants that are common in patients of European ancestry using a microarray-based approach

M. Tekin, C. Morton, X. Liu, 2017, PloS one.

Novel EYA1 variants causing Branchio-oto-renal syndrome.

M. Tekin, R. Maroofian, N. Elçioglu, 2017, International journal of pediatric otorhinolaryngology.

Co-existence of other copy number variations with 22q11.2 deletion or duplication: a modifier for variable phenotypes of the syndrome?

M. Tekin, Yao-Shan Fan, M. Tekin, 2012, Molecular Cytogenetics.

EFFECT OF INFANT FEEDING ON EPICARDIAL FAT THICKNESS IN NORMAL WEIGHTED CHILDREN

M. Tekin, F. Battal, H. Aylanç, 2015 .

A novel missense mutation in a C2 domain of OTOF results in autosomal recessive auditory neuropathy

M. Tekin, A. İncesulu, Duygu Akcayoz, 2005, American journal of medical genetics. Part A.

LETTERS TO THE EDITOR: 4

M. Tekin, E. Tutar, 2005 .

The Characteristics of Non-Diabetic Mothers with Macrosomic Newborns

M. Tekin, S. Cevizci, F. Battal, 2016 .

Prolonged pacifier usage in infancy does not cause eating behavior problem later.

M. Tekin, E. Özmert, M. Kılıç, 2015, The Turkish journal of pediatrics.

Familial neonatal Marfan syndrome due to parental mosaicism of a missense mutation in the FBN1 gene

M. Tekin, F. B. Cengiz, E. Çiftçi, 2007, American journal of medical genetics. Part A.

HPSE2 Mutations in Urofacial Syndrome, Non-Neurogenic Neurogenic Bladder and Lower Urinary Tract Dysfunction

M. Tekin, T. Soygür, F. B. Cengiz, 2015, Nephron.

Severe muscle-eye-brain disease is associated with a homozygous mutation in the POMGnT1 gene.

C. Walsh, M. Tekin, M. Kafali, 2008, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

A novel mutation in TRIM37 is associated with mulibrey nanism in a Turkish boy

M. Tekin, A. Lehesjoki, R. Hämäläinen, 2007, Clinical dysmorphology.

Audiological findings in Noonan syndrome.

M. Tekin, F. B. Cengiz, S. Tokgoz-Yilmaz, 2016, International journal of pediatric otorhinolaryngology.

Bilateral Coronary Artery Dilatation and Supravalvular Pulmonary Stenosis in a Child with Noonan Syndrome

M. Tekin, S. Atalay, E. Tutar, 2005, Pediatric Cardiology.

Multiple Mitochondrial Dysfunction Syndrome Type 3: A Likely Pathogenic Homozygous Variant Affecting a Patient of Cuban Descent and Literature Review

M. Tekin, Francesca Camponeschi, Steven H. Lang, 2022, Genes.

Glucagon-like peptide-2 exhibits protective effect on hepatic ischemia-reperfusion injury in rats

M. Tekin, S. Yildirim, N. Topaloğlu, 2015, Frontiers of Medicine.

Nontraumatic Massive Spontaneous Hemothorax with Concomitant Warfarin Use

M. Tekin, Y. Çevik, N. Doğan, 2013, Case reports in emergency medicine.

Effect of delivery mode on postpartum neonatal body temperatures

M. Tekin, H. A. Kiraz, V. Hancı, 2016, The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians.

Pyridoxal phosphate-responsive seizures in a patient with cerebral folate deficiency (CFD) and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM).

M. Tekin, N. Blau, B. Thöny, 2011, Molecular genetics and metabolism.

COVID‐19 in a child with severe propionic acidemia

M. Tekin, D. Barbouth, S. Hacker, 2021, Pediatrics international : official journal of the Japan Pediatric Society.

Spectrum of Genetic Variants Associated with Anterior Segment Dysgenesis in South Florida

M. Tekin, W. Scott, Serhat Seyhan, 2020, Genes.

Inherited mutation of the luteinizing hormone/choriogonadotropin receptor (LHCGR) in empty follicle syndrome.

T. Walsh, M. King, M. Tekin, 2011, Fertility and sterility.

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

M. Tekin, S. Blanton, R. Quintero, 2014, Human Genetics.

A novel COL4A3 mutation causes autosomal-recessive Alport syndrome in a large Turkish family.

M. Tekin, B. Tokgoz, M. Dundar, 2013, Genetic testing and molecular biomarkers.

WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.

Cheol‐Hee Kim, M. Tekin, T. Nagase, 2010, American journal of human genetics.

Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population

T. Walsh, M. King, M. Tekin, 2006, Human Genomics.

GJB2 mutations and degree of hearing loss: a multicenter study.

Mustafa Tekin, Umberto Ambrosetti, Nikolaus Blin, 2005, American journal of human genetics.

Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: a report of five novel mutations.

M. Tekin, D. Duman, A. İncesulu, 2009, International journal of pediatric otorhinolaryngology.

Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53

M. Tekin, X. Liu, D. Duman, 2015, Molecular Genetics and Genomics.

A. Snik, M. Tekin, A. Beynon, 2014, Ear and hearing.

Audiological findings in otospondylomegaepiphyseal dysplasia (OSMED) associated with a novel mutation in COL11A2.

M. Tekin, G. Sennaroğlu, S. Fitoz, 2011, International journal of pediatric otorhinolaryngology.

Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.

M. Tekin, J. Gusella, S. Eom, 2008, American journal of human genetics.

The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?

M. Tekin, M. Krawczak, M. Nothnagel, 2016, PloS one.

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

M. Tekin, S. Thiel, S. Degn, 2014, Proceedings of the National Academy of Sciences.

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 syndrome?

M. Tekin, A. Pandya, W. Nance, 2001, Clinical genetics.

Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss

M. Tekin, G. Bademci, F. Ozkinay, 2015, PloS one.

MLL2 and KDM6A mutations in patients with Kabuki syndrome

N. Niikawa, M. Tekin, K. Ihara, 2013, American journal of medical genetics. Part A.

Mutations in CIB2, a calcium and integrin binding protein, cause Usher syndrome type 1J and nonsyndromic deafness DFNB48

G. P. Sinha, S. Leal, M. Tekin, 2012, Nature Genetics.

Novel Causative Variants in DYRK1A, KARS, and KAT6A Associated with Intellectual Disability and Additional Phenotypic Features

M. Tekin, P. Jayakar, G. Bademci, 2017, Journal of Pediatric Genetics.

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

M. Tekin, S. Sacharow, O. Bodamer, 2013, Molecular Cytogenetics.

Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision

William E. Byrd, Gabor T. Marth, David R. Murdock, 2021, Orphanet Journal of Rare Diseases.

Next-generation sequencing in genetic hearing loss.

M. Tekin, X. Liu, S. Blanton, 2013, Genetic testing and molecular biomarkers.

High frequency of the p.R34X mutation in the TMC1 gene associated with nonsyndromic hearing loss is due to founder effects.

M. Tekin, M. Mustapha, S. Baig, 2010, Genetic testing and molecular biomarkers.

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

Juan I. Young, M. Tekin, F. Brancati, 2015, Human Genetics.

Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.

Mustafa Tekin, Bruno Dallapiccola, Juan I. Young, 2011, American journal of human genetics.

KBG syndrome

M. Tekin, J. Foster, Dayna Morel Swols, 2017, Orphanet Journal of Rare Diseases.

Genomics, Epigenetics, and Hearing Loss in Neurofibromatosis Type 2.

Juan I. Young, M. Tekin, F. Telischi, 2020, Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology.

Tc-99m DMSA Scintigraphy in the Diagnosis of Renal Anomalies: A Turner Syndrome Case

M. Tekin, Semra Özdemir, N. Topaloğlu, 2013 .

Antistreptococcal Response is Exaggerated in Children with Familial Mediterranean Fever

M. Tekin, A. Elhan, D. Aysev, 2002, Clinical Rheumatology.

Mutation of the ATP-gated P2X2 receptor leads to progressive hearing loss and increased susceptibility to noise

T. Walsh, M. King, Hong-Bo Zhao, 2013, Proceedings of the National Academy of Sciences.

Homozygous mutations in the 15-hydroxyprostaglandin dehydrogenase gene in patients with primary hypertrophic osteoarthropathy

M. Tekin, Y. Erdoğan, A. Sırmacı, 2009, Rheumatology International.

Comprehensive Analysis via Exome Sequencing Uncovers Genetic Etiology in Autosomal Recessive Non-Syndromic Deafness in a Large Multiethnic Cohort

M. Tekin, S. Blanton, Shengru Guo, 2015, Genetics in Medicine.

A 15-year-old girl with swelling of the face, legs, breast, and eyes.

M. Tekin, D. Karnak, D. Mungan, 2007, Pediatric annals.

Café au lait spots: the pediatrician's perspective.

M. Tekin, V. Riccardi, J. Bodurtha, 2001, Pediatrics in review.

Targeted Resequencing of Deafness Genes Reveals a Founder MYO15A Variant in Northeastern Brazil

M. Tekin, S. Blanton, G. Bademci, 2016, Annals of human genetics.

A Mayan founder mutation is a common cause of deafness in Guatemala

M. Tekin, S. Blanton, Shengru Guo, 2016, Clinical genetics.

GJB2 Mutations in Mongolia: Complex Alleles, Low Frequency, and Reduced Fitness of the Deaf

M. Tekin, A. Pandya, W. Nance, 2010, Annals of human genetics.

A founder TMIE mutation is a frequent cause of hearing loss in southeastern Anatolia

M. Tekin, D. Duman, A. İncesulu, 2009, Clinical genetics.

The c.IVS1+1G>A mutation intheGJB2 gene is prevalent and large deletions involving theGJB6 gene are not present in the Turkish population

M. Tekin, A. Sırmacı, Duygu Akcayoz-Duman, 2006, Journal of Genetics.

Spectrum of GJB2 mutations in Turkey comprises both Caucasian and Oriental variants: Roles of parental consanguinity and assortative mating

Mustafa Tekin, M. Tekin, A. İncesulu, 2003, Human mutation.

MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes.

T. Walsh, M. King, M. Tekin, 2010, American journal of human genetics.

A founder noncoding GALT variant interfering with splicing causes galactosemia

M. Tekin, Shengru Guo, G. Bademci, 2020, Journal of inherited metabolic disease.

Serum Ischemia-Modified Albumin Levels in Experimental Model of Acute Pancreatitis.

M. Tekin, A. Kucuk, H. A. Kiraz, 2015, Journal of the College of Physicians and Surgeons--Pakistan : JCPSP.

Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents

M. Tekin, X. Liu, S. Blanton, 2016, Human Genetics.

A next-generation sequencing gene panel (MiamiOtoGenes) for comprehensive analysis of deafness genes

M. Tekin, X. Liu, S. Blanton, 2016, Hearing Research.

Whole-Exome Sequencing Efficiently Detects Rare Mutations in Autosomal Recessive Nonsyndromic Hearing Loss

M. Tekin, S. Züchner, S. Blanton, 2012, PloS one.

A Novel Variant in SYNE4 Confirms its Causative Role in Sensorineural Hearing Loss

M. Tekin, Suna Tokgöz Yılmaz, J. Masterson, 2017, Balkan medical journal.

Contrast-enhanced MR angiography of thoracic vascular malformations in children.

M. Tekin, S. Fitoz, E. Tutar, 2007, International journal of cardiology.

FOXF2 is required for cochlear development in humans and mice.

M. Tekin, M. Walter, S. Blanton, 2018, Human molecular genetics.

An Amino Acid Deletion in SZT2 in a Family with Non-Syndromic Intellectual Disability

M. Tekin, I. Menéndez, K. Yariz, 2013, PloS one.

Trakeobronchial toy bow in a seven years old child, case report

M. Tekin, B. Aksu, S. Ayvaz, 2011 .

De novo inverted tandem duplication of the short arm of chromosome 12 in a patient with microblepharon.

M. Tekin, A. Pandya, C. Jackson-Cook, 2001, American journal of medical genetics.

Challenges in Whole Exome Sequencing: An Example from Hereditary Deafness

M. Tekin, Yvonne J. K. Edwards, A. Sırmacı, 2012, PloS one.

A Turkish case of incontinentia pigmenti with a deletion mutation at Inhibitor of kappa B kinase gamma gene

M. Tekin, N. Akar, M. Güneş, 2022, Egyptian Journal of Medical Human Genetics.

Radixin modulates the function of outer hair cell stereocilia

M. Tekin, G. Bademci, A. Fridberger, 2020, Communications biology.

Radixin modulates stereocilia function and contributes to cochlear amplification

M. Tekin, G. Bademci, A. Fridberger, 2020, bioRxiv.

Evidence for genotype-phenotype correlation for OTOF mutations.

Mustafa Tekin, Suna Tokgoz-Yilmaz, Guney Bademci, 2014, International journal of pediatric otorhinolaryngology.

Screening of OTOF mutations in Iran: a novel mutation and review.

M. Tekin, S. Zeinali, N. Mahdieh, 2012, International journal of pediatric otorhinolaryngology.

Autosomal Dominant Myocardial Disease Diagnosed by Fetal Presentation of Proband with an Aneurysm of the Muscular Interventricular Septum

D. R. Allen, M. Tekin, M. Donofrio, 2001, Pediatric Cardiology.

Familial Mediterranean Fever and Acute Rheumatic Fever: A Pathogenetic Relationship?

M. Tekin, F. Yalçınkaya, N. Çakar, 1999, Clinical Rheumatology.

Protracted arthritis of familial Mediterranean fever (an unusual complication).

M. Tekin, F. Yalçınkaya, N. Ozkaya, 1997, British journal of rheumatology.

Modulation of Fgf3 dosage in mouse and men mirrors evolution of mammalian dentition

M. Tekin, O. Klein, P. Tafforeau, 2009, Proceedings of the National Academy of Sciences.

Hearing Assessment in Zebrafish During the First Week Postfertilization.

M. Tekin, X. Liu, Zhongmin Lu, 2016, Zebrafish.

Mean platelet volume and ischemia modified albumin levels in cord blood of infants of diabetic mothers.

M. Tekin, S. Yildirim, N. Kaymaz, 2014, Pediatrics and neonatology.

Identification of an IGSF3 mutation in a family with congenital nasolacrimal duct obstruction

Ashutosh Kumar Singh, M. Tekin, K. Walz, 2013, Clinical genetics.

X-linked peripheral retinoschisis without macular involvement: a case series with RS1 genetic confirmation

M. Tekin, B. Lam, A. Berrocal, 2020, Ophthalmic genetics.

Hair-Thread Tourniquet Syndrome

M. Tekin, A. Savrun, Emre Gökçen, 2016 .

Analysis of NPHS2 mutations in Turkish steroid-resistant nephrotic syndrome patients

M. Tekin, M. Eki̇m, F. Yalçınkaya, 2006, Pediatric Nephrology.

Digestion of Chromatin in Apoptotic Cell Microparticles Prevents Autoimmunity

M. Tekin, V. D’Agati, F. Quintana, 2016, Cell.

M. Tekin, S. Yildirim, N. Kaymaz, 2017 .

Variants in CIB2 cause DFNB48 and not USH1J

M. Tekin, A. El-Amraoui, D. Duman, 2018, Clinical genetics.

Whole-exome sequencing and its impact in hereditary hearing loss.

M. Tekin, S. Blanton, G. Bademci, 2015, Genetics research.

Recurrent and private MYO15A mutations are associated with deafness in the Turkish population.

M. Tekin, X. Liu, D. Duman, 2010, Genetic testing and molecular biomarkers.

Iatrogenic Cushing Syndrome Due to Topical Steroid Administration in an Infant

M. Tekin, Filiz Tütüncüler, Demet Benek Balci, 2010 .

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

M. Tekin, J. Juusola, Lindsay E. Rhodes, 2019, American journal of medical genetics. Part A.

Nijmegen-Breakage Syndrome; Two Siblings Presenting with Different Phenotypes

M. Tekin, G. Bademci, I. Barlan, 2016 .

Novel domain-specific POU3F4 mutations are associated with X-linked deafness: examples from different populations

M. Tekin, S. Blanton, G. Bademci, 2015, BMC Medical Genetics.

Frequency of Rotavirus in Children with Acute Gastroenteritis

M. Tekin, E. Berk, A. Kadanalı, 2012 .

A comparative analysis of the genetic epidemiology of deafness in the United States in two sets of pedigrees collected more than a century apart.

M. Tekin, K. Arnos, A. Pandya, 2008, American journal of human genetics.

Further family with possible autosomal recessive inheritance of Adams-Oliver syndrome.

M. Tekin, J. Bodurtha, E. Çiftçi, 1999, American journal of medical genetics.

Identification of copy number variants through whole-exome sequencing in autosomal recessive nonsyndromic hearing loss.

Derek J Van Booven, M. Tekin, Derek J. Van Booven, 2014, Genetic testing and molecular biomarkers.

Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival.

B. Fernandez, J. Al-Aama, S. Mundlos, 2009, Human molecular genetics.

MYO3A Causes Human Dominant Deafness and Interacts with Protocadherin 15‐CD2 Isoform

T. Walsh, M. King, M. Tekin, 2016, Human mutation.

A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss.

M. King, M. Tekin, X. Liu, 2010, American journal of human genetics.

with Autosomal-Recessive Nonsyndromic Sensorineural Hearing Loss

M. Tekin, S. Züchner, X. Liu, 2010 .

Passive smoking increases pain perception in children undergoing venous catheterization

M. Tekin, V. Hancı, S. Yildirim, 2013, Acta paediatrica.

A Case of IVIG-Resistant Kawasaki Disease with Gallbladder Hydrops

M. Tekin, N. Aylanç, F. Battal, 2015 .

Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome

M. Tekin, S. Thiel, H. Kayserili, 2015, Orphanet Journal of Rare Diseases.

GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome.

Steven J. M. Jones, Anthony P. Fejes, M. Tekin, 2012, American journal of human genetics.

ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice

M. Tekin, C. Morton, X. Liu, 2016, Proceedings of the National Academy of Sciences.

Protective effects of ursodeoxycholic acid in experimental corrosive esophagitis injury in rats.

M. Tekin, H. A. Kiraz, S. Yildirim, 2017, Annali italiani di chirurgia.

Protective effect of glucagon-like peptide-2 in experimental corrosive esophagitis.

M. Tekin, N. Topaloğlu, H. Erdem, 2015, Diseases of the esophagus : official journal of the International Society for Diseases of the Esophagus.

Protective role of Proanthocyanidin in experimental ovarian torsion

M. Tekin, A. Yıldırım, S. Yildirim, 2015, Medical journal of the Islamic Republic of Iran.

Ophthalmo-acromelic syndrome: report and review.

M. Tekin, J. Bodurtha, S. Arsan, 2000, American journal of medical genetics.

A Case of Giant Uterine Lipoleiomyoma Simulating Malignancy

M. Tekin, Erbil Karaman, A. Kolusarı, 2015, Case reports in obstetrics and gynecology.

Benign Acute Childhood Myositis due to Toxoplasmosis

M. Tekin, F. Battal, S. Yildirim, 2016, The Indian Journal of Pediatrics.

Retrospective analysis of urine culture results in our clinic: determination of pathogen types and antibiotic resistance in our region

M. Tekin, Fulya Uzun, Erkan Sanmak, 2021 .

Serum superoxide dismutase levels of beta thalassemia patients and effects of high dosage of intravenous desferrioxamine treatment on superoxide dismutase levels.

M. Tekin, N. Akar, Y. Eğin, 1998, Pediatric hematology and oncology.

A FGF3 mutation associated with differential inner ear malformation, microtia, and microdontia

M. Tekin, W. Baumgartner, O. Bodamer, 2010, The Laryngoscope.

Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia

M. Tekin, D. Duman, A. İncesulu, 2008, Clinical genetics.

Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia.

M. Tekin, N. Akar, H. Özdağ, 2007, American journal of human genetics.

Familial intellectual disability in an Iranian family with a novel truncating mutation in CEP290

M. Tekin, S. Ghaffari, M. Rafati, 2014, Clinical genetics.

MLL2 and KDM6A Mutations in Patients With

N. Niikawa, M. Tekin, K. Ihara, 2013 .

Understanding of Abdominal Compartment Syndrome among Turkish Pediatric Healthcare Providers: A Questionnaire Study

M. Tekin, V. Hancı, S. Yildirim, 2014 .

A Rare Case of Cystinosis Presenting with Alkalosis

M. Tekin, B. Gencer, S. Yildirim, 2013, Renal failure.

Distal truncation of KCC3 in non–French Canadian HMSN/ACC families

M. Tekin, G. Rouleau, J. Rivière, 2007, Neurology.

Hyperekplexia in a neonate: a novel finding in Fukuyama type congenital muscular dystrophy.

M. Tekin, T. Tunç, B. Atasay, 2009, Genetic counseling.

GPSM2 mutations in Chudley–McCullough syndrome

M. Tekin, K. Arnos, A. Pandya, 2012, American journal of medical genetics. Part A.

Chudley‐McCullough syndrome: Expanded phenotype and review of the literature

M. Tekin, A. Pandya, S. Blanton, 2003, American journal of medical genetics. Part A.

A truncating mutation in GPSM2 is associated with recessive non‐syndromic hearing loss

T. Walsh, M. King, M. Tekin, 2012, Clinical genetics.

Frequency of mtDNA A1555G and A7445G mutations among children with prelingual deafness in Turkey

M. Tekin, A. İncesulu, N. Akar, 2003, European Journal of Pediatrics.

Aminoglycoside‐Induced Deafness

M. Tekin, 2004 .

Research of genetic bases of hereditary non-syndromic hearing loss.

M. Tekin, D. Duman, G. Bademci, 2017, Turk pediatri arsivi.

Genetic epidemiological studies of congenital/prelingual deafness in Turkey: Population structure and mating type are major determinants of mutation identification

M. Tekin, Z. S. Arici, Zehra Serap Arıcı, 2007, American journal of medical genetics. Part A.

Connexin 26 (GJB2) mutations in the Turkish population: implications for the origin and high frequency of the 35delG mutation in Caucasians

M. Tekin, A. Pandya, S. Blanton, 2001, Human Genetics.

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

M. Tekin, S. Blanton, G. Bademci, 2014, International journal of pediatric otorhinolaryngology.

Analyses of del(GJB6‐D13S1830) and del(GJB6‐D13S1834) deletions in a large cohort with hearing loss: Caveats to interpretation of molecular test results in multiplex families

M. Tekin, K. Arnos, A. Pandya, 2020, Molecular genetics & genomic medicine.

MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss

M. Tekin, Gaofeng Wang, S. Blanton, 2018, Human Genetics.

Association between teething and independent walking in healthy children.

M. Tekin, M. Çimen, E. Özmert, 2015, Turkish Journal of Pediatrics.

A rare ANOS1 variant in siblings with Kallmann syndrome identified by whole exome sequencing

M. Tekin, A. Griswold, R. Ramasamy, 2018, Andrology.

A truncating CLDN9 variant is associated with autosomal recessive nonsyndromic hearing loss

M. Tekin, Gaofeng Wang, Shengru Guo, 2019, Human Genetics.

The Generation of Zebrafish Mariner Model Using the CRISPR/Cas9 System

M. Tekin, X. Liu, D. Yan, 2020, Anatomical record.

SLITRK6 mutations cause myopia and deafness in humans and mice.

Juan I. Young, M. Tekin, A. Pandya, 2013, The Journal of clinical investigation.

SLITRK 6 mutations cause myopia and deafness in humans and mice

Juan I. Young, M. Tekin, A. Pandya, 2013 .

Psychological and social effects of COVID-19 pandemic on obstetrics and gynecology employees

M. Tekin, E. Sertel, Alpay Tuncar, 2020, Journal of Surgery and Medicine.

A MECOM variant in an African American child with radioulnar synostosis and thrombocytopenia.

M. Tekin, G. Bademci, E. Ziga, 2017, Clinical dysmorphology.

Review Synthetic Report: Genomic architecture of deafness in Turkey reflects its rich past

M. Tekin, 2010 .

Reply to: ‘passive smoking increases pain perception in children undergoing venous catheterization’

M. Tekin, V. Hancı, S. Yildirim, 2013, Acta paediatrica.

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

Nimesh A. Patel, M. Tekin, A. Berrocal, 2019, American journal of ophthalmology case reports.

A comprehensive analysis of postpartum depression and delivery characteristics: a cross-sectional study

M. Tekin, Fulya Uzun, N. Uzun, 2021, Journal of Mind and Medical Sciences.

Adams–Oliver syndrome caused by mutations of the EOGT gene

M. Tekin, D. Duman, W. Wuyts, 2019, American journal of medical genetics. Part A.

The Effects of Passive Smoking on the Six-Minute Walk Test in Obese Pediatric Cases

M. Tekin, A. Akbal, F. Battal, 2014, Journal of clinical research in pediatric endocrinology.

Frequency of five thrombophilic polymorphisms in the Egyptian population.

M. Tekin, N. Akar, E. Elsobky, 2006, Turkish journal of haematology : official journal of Turkish Society of Haematology.

DNASE1L3 mutations in hypocomplementemic urticarial vasculitis syndrome.

M. Tekin, F. Yalçınkaya, Z. Ozcakar, 2013, Arthritis and rheumatism.

Relationship between Abdominal Aortic Intima Media Thickness and Central Obesity in Children

M. Tekin, N. Aylanç, F. Battal, 2015, Hormone Research in Paediatrics.

Early detection of myocardial deformation by 2D speckle tracking echocardiography in normotensive obese children and adolescents

M. Tekin, H. Aylanç, S. Yildirim, 2014, Anatolian journal of cardiology.

Infants' Non-Nutritive Sucking Habits and Childhood Obesity

M. Tekin, M. Kılıç, S. Cevizci, 2016 .

Ripor2 is involved in auditory hair cell stereociliary bundle structure and orientation

M. Tekin, G. Bademci, C. Abad, 2018, Journal of Molecular Medicine.

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

M. Tekin, S. Blanton, R. Zhai, 2019, Proceedings of the National Academy of Sciences.

Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomalies

M. Tekin, G. Bademci, P. Benke, 2018, Molecular Cytogenetics.

Change in Complete Blood Count Parameters and Vital Signs After Intravenous Infusion of 1 Liter of Normal Saline

M. Tekin, Y. Çevik, N. Doğan, 2018, Eurasian Journal of Emergency Medicine.

Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia

M. Tekin, J. Ordóñez, 2012 .

Afflictive Effect of Squirting Cucumber: Isolated Uvular Oedema due to Complication of a Herbal Medicine

M. Tekin, Y. Çevik, N. Doğan, 2013 .

Confirmation of COL4A6 variants in X-linked nonsyndromic hearing loss and its clinical implications

Hui Yi Tee, M. Tekin, K. Arnos, 2021, European Journal of Human Genetics.

Novel variant p.E269K confirms causative role of PLS1 mutations in autosomal dominant hearing loss

M. Tekin, Shengru Guo, D. Duman, 2019, Clinical genetics.

Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomalies

M. Tekin, G. Bademci, P. Benke, 2018, Molecular Cytogenetics.

A defect in the inner kinetochore protein CENPT causes a new syndrome of severe growth failure

M. Tekin, I. Mihalek, E. Gussoni, 2017, PloS one.

A mutation in SLC22A4 encoding an organic cation transporter expressed in the cochlea strial endothelium causes human recessive non-syndromic hearing loss DFNB60

M. Tekin, X. Liu, D. Yan, 2016, Human Genetics.

Co-existence of other copy number variations with 22q11.2 deletion or duplication: a modifier for variable phenotypes of the syndrome?

M. Tekin, M. Buch, Yao‐Shan Fan, 2012, Molecular Cytogenetics.

814 Polymorphism of Surfactan Protein B Genes and the Risk of Respiratory Distress Sendrome and Chronic Lung Disease in Preterm Neonates

M. Tekin, N. Akar, B. Atasay, 2010 .

Screening of families of patients with left‐sided cardiovascular anomalies

M. Tekin, C. Karadeniz, S. Atalay, 2013, Pediatrics international : official journal of the Japan Pediatric Society.

Dominant deafness–onychodystrophy syndrome caused by an ATP6V1B2 mutation

M. Tekin, G. Bademci, I. Menéndez, 2017, Clinical case reports.

W44C mutation in the connexin 26 gene associated with dominant non‐syndromic deafness

M. Tekin, A. Pandya, X Z Liu, 2001, Clinical genetics.

Comprehensive genetic testing can save lives in hereditary hearing loss

M. Tekin, S. Blanton, J. Foster, 2015, Clinical genetics.

KBG syndrome: An Australian experience.

M. Tekin, T. Roscioli, Meredith Wilson, 2017, American journal of medical genetics. Part A.

Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival.

B. Fernandez, J. Al-Aama, S. Mundlos, 2009, Human molecular genetics.

Audiological findings in Noonan syndrome.

M. Tekin, S. Tokgoz-Yilmaz, S. Kose, 2016, International journal of pediatric otorhinolaryngology.

SEROPREVALENCE OF TOXOPLASMA GONDII, RUBELLA VIRUS AND CYTOMEGALOVIRUS IN SOUTHEAST OF THE TURKEY AND CURRENT APPROACH

M. Tekin, K. Uzel, Fulya Uzun, 2022 .

ClinGen Expert Clinical Validity Curation of 164 Hearing Loss Gene-Disease Pairs

Andrew R. Grant, Marina T. DiStefano, H. Rehm, 2019, Genetics in Medicine.

Protective role of Proanthocyanidin in experimental ovarian torsion

M. Tekin, A. Yıldırım, S. Yildirim, 2015, Medical journal of the Islamic Republic of Iran.

GJB2 Mutations in Mongolia: Complex Alleles, Low Frequency, and Reduced Fitness of the Deaf

M. Tekin, A. Pandya, W. Nance, 2010, Annals of human genetics.

Mutations in CIB2, a calcium and integrin binding protein, cause Usher syndrome type 1J and nonsyndromic deafness DFNB48

G. P. Sinha, S. Leal, M. Tekin, 2012, Nature Genetics.

The investigation of the effects of selenium binding protein 1 (SBP-1), anti-mullerian hormone and antral follicle count on pregnancy in primary infertility patients

M. Tekin, C. Togrul, N. Uzun, 2022, International Journal of Medical Reviews and Case Reports.

Heart rate variability in children with congenital sensorineural deafness.

M. Tekin, S. Atalay, E. Tutar, 2010, The Turkish journal of pediatrics.

Passive smoking increases pain perception in children undergoing venous catheterization

M. Tekin, V. Hancı, S. Yildirim, 2013, Acta paediatrica.

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

Juan I. Young, M. Tekin, Huawei Li, 2012, American journal of human genetics.

Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.

T. Walsh, M. King, M. Tekin, 2014, The New England journal of medicine.

Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53

M. Tekin, X. Liu, D. Duman, 2015, Molecular Genetics and Genomics.

A mutation in SLC22A4 encoding an organic cation transporter expressed in the cochlea strial endothelium causes human recessive non-syndromic hearing loss DFNB60

M. Tekin, X. Liu, D. Yan, 2016, Human Genetics.

Does intrauterine tobacco exposure increase the pain perception of newborns?

M. Tekin, F. Battal, H. Aylanç, 2016, Journal of pain research.