Search filters

List of works by Mustafa Tekin

22q11.2q13 duplication including SOX10 causes sex-reversal and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease

scientific article published in April 2017

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

scientific article published on July 2002

A 15-year-old Girl with Swelling of the Face, Legs, Breast, and Eyes

scientific article published on 01 March 2007

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

scientific article published in February 2010

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

scientific article published in January 2018

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

scientific article

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

scientific article published on 29 September 2017

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

scientific article

A complexTFAP2Aallele is associated with branchio-oculo-facial syndrome and inner ear malformation in a deaf child

scientific article published on 01 March 2009

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

scientific article published on 11 December 2017

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

scientific article published on 5 May 2009

A germlinePTEN mutation with manifestations of prenatal onset and verrucous epidermal nevus

article

A homozygousSIX6mutation is associated with optic disc anomalies and macular atrophy and reduces retinal ganglion cell differentiation

scientific article published on 07 April 2014

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

scientific article

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

scientific article

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

scientific article published on 8 January 2013

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

scientific article

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

scientific article

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

scientific article published on 6 December 2017

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

scientific article published on 15 March 2011

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

scientific article

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

scientific article

Adams-Oliver syndrome caused by mutations of the EOGT gene

scientific article published on 31 July 2019

Advances in hereditary deafness

scientific article

Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.

scientific article

Aminoglycoside induced ototoxicity associated with mitochondrial DNA mutations

An amino acid deletion inSZT2 in a family with non-syndromic intellectual disability

scientific article

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

scientific article published on 17 February 2020

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

scientific article published on 30 June 2006

Ankrd11 is a chromatin regulator involved in autism that is essential for neural development

scientific article published on 31 December 2014

Ankrd11 is a chromatin regulator involved in autism that is essential for neural development

scientific article published on 12 June 2015

Arthritis in children with familial Mediterranean fever

scientific article published on April 2002

Assessment of ventricular repolarization in a large group of children with early onset deafness

scientific article published in September 2004

Audiological findings in Noonan syndrome.

scientific article

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

scientific article

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

scientific article published in November 2015

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

scientific article published on 01 November 2005

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

scientific article published on 12 January 2017

Café au lait spots: the pediatrician's perspective

scientific article

Cardiomyopathy with alopecia and palmoplantar keratoderma (CAPK) is caused by a JUP mutation

scientific article (publication date: October 2011)

Challenges in whole exome sequencing: an example from hereditary deafness

scientific article

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

scientific article published on 01 October 2005

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

scientific article

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

scientific article published on 4 January 2018

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

scientific article published on 9 April 2012

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

scientific article

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

scientific article

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

scientific article published on 11 November 2015

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

scientific article

Comprehensive genetic testing can save lives in hereditary hearing loss

scientific article

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

scientific article

Contrast-enhanced MR angiography of thoracic vascular malformations in children

scientific article published on 28 March 2007

DNASE1L3 mutations in hypocomplementemic urticarial vasculitis syndrome

scientific article published in August 2013

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

scientific article published on 13 December 2013

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

scientific article published in November 2014

Digestion of Chromatin in Apoptotic Cell Microparticles Prevents Autoimmunity

scientific article published on 09 June 2016

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

scientific article published on 04 January 2019

Effects of GJB2 genotypes on the audiological phenotype: variability is present for all genotypes

scientific article published on 19 May 2006

Evidence for genotype-phenotype correlation for OTOF mutations

scientific article

Evidence for single origins of 35delG and delE120 mutations in the GJB2 gene in Anatolia

scientific article published in January 2005

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

scientific article

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

scientific article published on 03 February 2012

Familial Mediterranean fever - renal involvement by diseases other than amyloid

scientific article published on 01 February 1999

Familial Mediterranean fever and acute rheumatic fever: a pathogenetic relationship?

scientific article published on January 1999

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

scientific article published on 31 October 2013

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

scientific article published in April 2007

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

scientific article published in November 2000

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

scientific article published on 20 September 2013

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

scientific article published on 01 September 1999

GEnomes Management Application (GEM.app): a new software tool for large-scale collaborative genome analysis

scientific article published on 3 April 2013

GJB2 mutations and degree of hearing loss: a multicenter study

scientific article

GJB2 mutations in Mongolia: complex alleles, low frequency, and reduced fitness of the deaf

scientific article published on 27 January 2010

GPSM2 Mutations Cause the Brain Malformations and Hearing Loss in Chudley-McCullough Syndrome

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

scientific article

GPSM2 mutations in Chudley-McCullough syndrome.

scientific article

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

scientific article published on 27 May 2019

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

scientific article published on 01 July 2007

HPSE2 mutations in urofacial syndrome, non-neurogenic neurogenic bladder and lower urinary tract dysfunction.

scientific article

Hearing Assessment in Zebrafish During the First Week Postfertilization

scientific article

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

scientific article published on 28 June 2013

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

scientific article

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

scientific article published on 22 April 2008

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

scientific article

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

scientific article

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

scientific article

Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability

scientific article published in PLoS ONE

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

scientific article

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

scientific article

KBG syndrome.

scientific article published on 19 December 2017

KBG syndrome: An Australian experience.

scientific article

Letter to the Editor: Serum Superoxide Dismutase Levels of Beta Thalassemia Patients and Effects of High Dosage of Intravenous Desferrioxamine Treatment on Superoxide Dismutase Levels

scientific article published on 01 July 1998

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

scientific article published on 25 March 2009

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

scientific article

MEFV mutations in multiplex families with familial Mediterranean fever: is a particular genotype necessary for amyloidosis?

scientific article published on June 2000

MLL2 and KDM6A mutations in patients with Kabuki syndrome

scientific article published on 02 August 2013

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

scientific article published on 23 May 2015

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

article

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

scientific article published on 3 February 2016

Mannan-binding lectin-associated serine protease (MASP)-1 is crucial for lectin pathway activation in human serum, whereas neither MASP-1 nor MASP-3 is required for alternative pathway function

scientific article published on 10 September 2012

Meningococccal meningitis and complement component 6 deficiency associated with oculocutaneous albinism

scientific article published on 23 November 2004

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

scientific article (publication date: 29 December 2009)

Molecular characterization of a ring X chromosome in a male with short stature

scientific article published on 02 March 2002

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

scholarly article by Meng Su published in January 2018

Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.

scientific article

Mutation of the ATP-gated P2X(2) receptor leads to progressive hearing loss and increased susceptibility to noise.

scientific article

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

scientific article published on 22 January 2011

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

scientific article

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

scientific article

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

scientific article

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

scientific article (publication date: April 2002)

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

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

scientific article published in February 2009

Next generation sequencing: implications in personalized medicine and pharmacogenomics

scientific article published on 12 April 2016

Next-generation sequencing in genetic hearing loss

scientific article published on 05 June 2013

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

scientific article published on 2 December 2005

Novel EYA1 variants causing Branchio-oto-renal syndrome

scientific article published on 26 April 2017

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 27 August 2019

Oromandibular-limb hypogenesis spectrum and maternal lithium use.

scientific article

Oxygen Free Radical-Dependent Increased Platelet Function in β-Thalassemia Major Patients

scientific article published on 01 December 1998

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

scientific article published in April 2008

Personalized Medicine for Hereditary Deafness

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

scientific article

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

scientific article published on 01 February 2001

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

scientific article published on 2 June 2011

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

scientific article

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

scientific article published in August 2010

Reply to Teasdale and Collins: N-terminal region of FAM65B bears similarity to the PX-BAR module of SNX33.

scientific article published on 19 September 2014

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

scientific article published in September 2017

SLC26A4 mutations are associated with a specific inner ear malformation

scientific article published on 2 January 2007

SLITRK6 mutations cause myopia and deafness in humans and mice

scientific article

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

scientific article published on 30 November 2010

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

scientific article published on 18 August 2012

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

scientific article

Screening of families of patients with left-sided cardiovascular anomalies

scientific article published on 12 August 2013

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.

scientific article published in October 2003

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

article

Similar phenotypes caused by mutations in OTOG and OTOGL.

scientific article

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

scientific article published in May 2003

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

scientific article published on November 2016

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

scientific article published in October 2004

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

scientific article

The c.IVS1+1G>A mutation in the GJB2 gene is prevalent and large deletions involving the GJB6 gene are not present in the Turkish population

scientific article published in December 2006

The effect of p.Arg25Cys alteration in NKX2-5 on conotruncal heart anomalies: mutation or polymorphism?

scientific article

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

scientific article published on 01 September 2011

The promise of whole-exome sequencing in medical genetics

scientific article

Type I collagen triplet duplication mutation in lethal osteogenesis imperfecta shifts register of alpha chains throughout the helix and disrupts incorporation of mutant helices into fibrils and extracellular matrix

scientific article published on 20 January 2003

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

scientific article published on 19 October 2010

Unique spectrum of GJB2 mutations in Mexico

scientific article published on 24 August 2012

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

scientific article published in September 2000

Variants in CIB2 cause DFNB48 and not USH1J.

scientific article

Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss

scientific article

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

scientific article

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

scientific article

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?

article

Whole Exome Sequencing of a Consanguineous Turkish Family Identifies a Mutation in GTF2H3 in Brothers With Spermatogenic Failure

scientific article published on 30 June 2018

Whole-exome sequencing and its impact in hereditary hearing loss

scientific article

Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss

scientific article

Paulina is supported by:

About Paulina

Help