E. Kalay

发表

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

N. Akarsu, V. Okur, C. N. Semerci, 2014, British Journal of Ophthalmology.

Variation of CNV distribution in five different ethnic populations

L. Vissers, H. Brunner, J. D. den Dunnen, 2007, Cytogenetic and Genome Research.

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

A. Beynon, T. Strom, H. Kremer, 2012, American journal of human genetics.

HLA-E*0101/0103X is Associated with Susceptibility to Pemphigus Vulgaris: A Case-control Study.

E. Kalay, B. Toraman, D. Arıca, 2017, Acta dermatovenerologica Croatica : ADC.

RIPK4 suppresses the TGF‐β1 signaling pathway in HaCaT cells

E. Kalay, Tuba Dinçer, B. Toraman, 2019, Cell biology international.

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

C. Cremers, H. Brunner, H. Kremer, 2007, Journal of Molecular Medicine.

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

H. Hsin, M. Marazita, H. Ouyang, 2014, BMC Medical Genetics.

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

H. Kayserili, S. Pillai, A. Cansu, 2012, American journal of human genetics.

Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment

C. Cremers, T. Strom, A. D. den Hollander, 2007, Human mutation.

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

Y. Dodurga, N. Akarsu, C. N. Semerci, 2017, European Journal of Human Genetics.

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

J. McGrath, Y. Aslan, E. Kalay, 2015, Turkish Journal of Pediatrics.

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

A. Ökten, E. Kalay, Tuba Dinçer, 2013, Gene.

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

H. Kremer, A. Brouwer, E. Kalay, 2005, Hearing Research.

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

S. Kandil, Selma Tural Hesapçıoğlu, E. Kalay, 2021, The journal of gene medicine.

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

H. G. Brunner, C. Cremers, S. Nabuurs, 2005, Journal of Molecular Medicine.

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

Martin S. Taylor, J. Aerts, M. Hurles, 2011, Nature Genetics.

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

C. Cremers, E. Krieger, H. Brunner, 2007, American Journal of Medical Genetics. Part A.

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

E. Kalay, Tuba Dinçer, B. Toraman, 2021, American journal of medical genetics. Part A.

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

B. van der Zwaag, H. Kremer, S. Riazuddin, 2008, Nature Genetics.

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

S. Leal, C. Cremers, G. Vriend, 2008, American journal of human genetics.

Two male patients from an extended seven generation Turkish family diagnosed with Renpenning syndrome: identifying the causative mutation and review of the literature

E. Kalay, Tuba Dinçer, B. Toraman, 2022 .

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

C. Boz, E. Kalay, S. Velioğlu, 2004, Journal of clinical neuromuscular disease.

A novel TMPRSS 3 missense mutation in a DFNB 8 / 10 family prevents proteolytic activation of the protein WATTENHOFER

A. Reymond, S. Antonarakis, B. Rossier, 2018 .

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

A. Reymond, S. Antonarakis, B. Rossier, 2005, Human Genetics.

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

S. Kul, A. Cansu, E. Kalay, 2016, Journal of the Neurological Sciences.

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

T. Mittmann, Selcen Aydın-Abidin, A. Cansu, 2011, Brain Research Bulletin.

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

H. Brunner, H. Kremer, F. Cremers, 2005, Human mutation.

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.

S. Aksoy, L. Sennaroğlu, G. Sennaroğlu, 2005, The Turkish journal of pediatrics.

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

C. Cremers, T. Strom, A. D. den Hollander, 2006, Human mutation.

Effects of Leptin and Insulin on CA III Expression in Rat Adipose Tissue

A. Alver, E. Kalay, E. Ovalı, 2004, Journal of enzyme inhibition and medicinal chemistry.

X-linked spinal and bulbar muscular atrophy without proximal atrophy

C. Boz, E. Kalay, S. Velioğlu, 2002, Clinical Neurology and Neurosurgery.

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

Martin S. Taylor, J. Aerts, M. Hurles, 2011, Nature Genetics.