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Karadeniz Technical University: Trabzon, Trabzon, TR

(Medical Biology)
Employment
Source: Self-asserted source
Ersan Kalay

Works (38)

A novel homozygous RIPK4 variant in a family with severe Bartsocas-Papas syndrome

American Journal of Medical Genetics Part A
2021 | Journal article
Source: Self-asserted source
Ersan Kalay

Finding underlying genetic mechanisms of two patients with autism spectrum disorder carrying familial apparently balanced chromosomal translocations

The Journal of Gene Medicine
2021 | Journal article
Source: Self-asserted source
Ersan Kalay

RIPK4 suppresses the TGF-$β$1 signaling pathway in HaCaT cells

Cell biology international
2020 | Journal article
Source: Self-asserted source
Ersan Kalay

An Unusual Complication of Urinary Stone Disease: Spontaneous Perirenal Hematoma

Journal of Emergency Medicine
2019 | Journal article
Source: Self-asserted source
Ersan Kalay

Analysis of centrosome and DNA damage response in PLK4 associated Seckel syndrome

European Journal of Human Genetics
2017 | Journal article
Source: Self-asserted source
Ersan Kalay

HLA-E* 0101/0103X is associated with susceptibility to pemphigus vulgaris: a case-control study

Acta Dermatovenerologica Croatica
2017 | Journal article
Source: Self-asserted source
Ersan Kalay

Leukoencephalopathy with thalamus and brainstem involvement and high lactate caused by novel mutations in the EARS2 gene in two siblings

Journal of the neurological sciences
2016 | Journal article
Source: Self-asserted source
Ersan Kalay

Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel c. 4505-4508insACTC mutations in integrin b4 gene (ITGB4)

Turk J Pediatr
2015 | Journal article
Source: Self-asserted source
Ersan Kalay

A Novel Founder Mutation of CYP21A2 in Patients with CAH due to 21-Hydroxylase Deficiency

ESPE 2014
2014 | Conference paper
Source: Self-asserted source
Ersan Kalay

Novel splice-site and missense mutations in the ALDH1A3 gene underlying

2014 | Journal article
Source: Self-asserted source
Ersan Kalay

Novel splice-site and missense mutations in the ALDH1A3 gene underlying autosomal recessive anophthalmia/microphthalmia

British Journal of Ophthalmology
2014 | Journal article
Source: Self-asserted source
Ersan Kalay

Role of estrogen related receptor beta (ESRRB) in DFN35B hearing impairment and dental decay

BMC medical genetics
2014 | Journal article
Source: Self-asserted source
Ersan Kalay

Investigation of CYP21A2 mutations in Turkish patients with 21-hydroxylase deficiency and a novel founder mutation

Gene
2013 | Journal article
Source: Self-asserted source
Ersan Kalay

Mutations in RIPK4 cause the autosomal-recessive form of popliteal pterygium syndrome

The American Journal of Human Genetics
2012 | Journal article
Source: Self-asserted source
Ersan Kalay

Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment

The American Journal of Human Genetics
2012 | Journal article
Source: Self-asserted source
Ersan Kalay

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

Nature genetics
2011 | Journal article
Source: Self-asserted source
Ersan Kalay

Penicillin induced epileptiform activity and EEG spectrum analysis of BDNF heterozygous mice: an in vivo electrophysiological study

Brain research bulletin
2011 | Journal article
Source: Self-asserted source
Ersan Kalay

THE INVESTIGATION OF KNOWNCYP21A2GENE MUTATIONS IN PATIENTS WITH CONGENITAL ADRENAL HYPERPLASIA (CAH) CAUSED BY 21-HYDROXYLASE DEFICIENCY IN THE BLACK-SEA REGION OF TURKEY: M18

Clinical Genetics
2010 | Journal article
Source: Self-asserted source
Ersan Kalay

Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35

The American Journal of Human Genetics
2008 | Journal article
Source: Self-asserted source
Ersan Kalay

Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans

Nature genetics
2008 | Journal article
Source: Self-asserted source
Ersan Kalay

A novel locus for autosomal recessive nonsyndromic hearing impairment, DFNB63, maps to chromosome 11q13. 2--q13. 4

Journal of Molecular Medicine
2007 | Journal article
Source: Self-asserted source
Ersan Kalay

Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment

Human mutation
2007 | Journal article
Source: Self-asserted source
Ersan Kalay

MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation

American Journal of Medical Genetics Part A
2007 | Journal article
Source: Self-asserted source
Ersan Kalay

RNA interferans (RNAi): gen sessizleştirilmesi ve tedavi edici uygulamaları

Uludağ Üniversitesi Tıp Fakültesi Dergisi
2007 | Journal article
Source: Self-asserted source
Ersan Kalay

Variation of CNV distribution in five different ethnic populations

Cytogenetic and genome research
2007 | Journal article
Source: Self-asserted source
Ersan Kalay

Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss

Human mutation
2006 | Journal article
Source: Self-asserted source
Ersan Kalay

A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome

Journal of molecular medicine
2005 | Journal article
Source: Self-asserted source
Ersan Kalay

A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein

Human genetics
2005 | Journal article
Source: Self-asserted source
Ersan Kalay

GJB2 mutations in Turkish patients with ARNSHL: prevalence and two novel mutations

Hearing research
2005 | Journal article
Source: Self-asserted source
Ersan Kalay

Identification of an ancestral haplotype of the 35delG mutation in the GJB2 (connexin 26) gene responsible for autosomal recessive non-syndromic hearing loss in families from the Eastern Black Sea Region in Turkey

Turkish Journal of Pediatrics
2005 | Journal article
Source: Self-asserted source
Ersan Kalay

Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss.

Human mutation
2005-12-01 | Journal article
Source: Self-asserted source
Ersan Kalay

Effects of leptin and insulin on CA III expression in rat adipose tissue

Journal of enzyme inhibition and medicinal chemistry
2004 | Journal article
Source: Self-asserted source
Ersan Kalay

Ocular myasthenia gravis associated with x-linked recessive spinal and bulbar muscular atrophy

Journal of clinical neuromuscular disease
2004 | Journal article
Source: Self-asserted source
Ersan Kalay

Clinical case study: Connexin 32 mutation in a Turkish family with X-linked Charcot-Marie-Tooth disease

International journal of neuroscience
2003 | Journal article
Source: Self-asserted source
Ersan Kalay

X-linked spinal and bulbar muscular atrophy without proximal atrophy

Clinical neurology and neurosurgery
2002 | Journal article
Source: Self-asserted source
Ersan Kalay

A novel splicing site mutation of PLK4 that is required for centriole biogenesis and genomic stability causes Seckel syndrome

Journal article
Source: Self-asserted source
Ersan Kalay

Development of Nephelometric A1-At Method and its Performance Characteristics

Manas Fen Bilimleri Dergisi
Journal article
Source: Self-asserted source
Ersan Kalay

Kalıtsal nonsendromik yarık dudak/damak hastalığında genetik etiyolojinin araştırılması

Journal article
Source: Self-asserted source
Ersan Kalay