A. Okay Caglayan : rechercher sur Z-Library

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1

CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration

Schaffer, Ashleigh E., Eggens, Veerle R.C., Caglayan, Ahmet Okay, Reuter, Miriam S., Scott, Eric, Coufal, Nicole G., Silhavy, Jennifer L., Xue, Yuanchao, Kayserili, Hulya, Yasuno, Katsuhito, Rosti, Ra

Journal:

Année:

2014

Langue:

english

Fichier:

PDF, 1.79 MB

english, 2014

2

NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy

Caglayan, Ahmet Okay, Comu, Sinan, Baranoski, Jacob F., Parman, Yesim, Kaymakçalan, Hande, Akgumus, Gozde Tugce, Caglar, Caner, Dolen, Duygu, Erson-Omay, Emine Zeynep, Harmanci, Akdes Serin, Mishra-Go

Journal:

European Journal of Medical Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 1.14 MB

english, 2015

3

METAP1 mutation is a novel candidate for autosomal recessive intellectual disability

Caglayan, Ahmet Okay, Aktar, Fesih, Bilguvar, Kaya, Baranoski, Jacob F., Akgumus, Gozde Tugce, Harmanci, Akdes Serin, Erson-Omay, Emine Zeynep, Yasuno, Katsuhito, Caksen, Huseyin, Gunel, Murat

Journal:

Journal of Human Genetics

Année:

2020

Fichier:

PDF, 675 KB

2020

4

Magnetic resonance spectroscopy in two siblings with chorea-acanthocytosis

Sevda Ismailogullari, Ahmet Okay Caglayan, Benedikt Bader, Adrian Danek, Selda Korkmaz, Elman Sharifov, Fatih Kurnaz, Murat Aksu

Journal:

Movement Disorders

Année:

2010

Langue:

english

Fichier:

PDF, 481 KB

english, 2010

5

Detection of p16 promotor hypermethylation in “Maras powder” and tobacco users

Cetin Saatci, Ahmet Okay Caglayan, Yusuf Ozkul, Serpil Tahiri, Ahmet Bulent Turhan, Munis Dundar

Journal:

Cancer Epidemiology

Année:

2009

Langue:

english

Fichier:

PDF, 212 KB

english, 2009

6

Exomic sequencing in cortical malformations

Ahmet Okay Caglayan

Journal:

Current Opinion in Biotechnology

Année:

2011

Langue:

english

Fichier:

PDF, 72 KB

english, 2011

7

Sacrococcygeal teratoma in a fetus with prenatally diagnosed partial trisomy 10q (10q24.3→qter) and partial monosomy 17p (p13.3→pter)

Cem Batukan, Mahmut Tuncay Ozgun, Mustafa Basbug, Okay Caglayan, Munis Dundar, Nurcan Murat

Journal:

Prenatal Diagnosis

Année:

2007

Langue:

english

Fichier:

PDF, 143 KB

english, 2007

8

Are heterochromatin polymorphisms associated with recurrent miscarriage?

Ahmet Okay Caglayan, Isılay Ozyazgan, Fatma Demiryilmaz, Mahmut Tuncay Ozgun

Journal:

Journal of Obstetrics and Gynaecology Research

Année:

2010

Langue:

english

Fichier:

PDF, 146 KB

english, 2010

9

Maternal uniparental isodisomy is responsible for serious molybdenum cofactor deficiency

HAKAN GÜMÜŞ, STIJN GHESQUIERE, HÜSEYIN PER, MEDA KONDOLOT, KIMIYOSHI ICHIDA, GAMZE POYRAZOĞLU, SEFER KUMANDAŞ, JOHN ENGELEN, MUNIS DUNDAR, AHMET OKAY ÇAĞLAYAN

Journal:

Developmental Medicine & Child Neurology

Année:

2010

Langue:

english

Fichier:

PDF, 813 KB

english, 2010

10

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

Bilgüvar, Kaya, Öztürk, Ali Kemal, Louvi, Angeliki, Kwan, Kenneth Y., Choi, Murim, Tatlı, Burak, Yalnızoğlu, Dilek, Tüysüz, Beyhan, Çağlayan, Ahmet Okay, Gökben, Sarenur

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 1.52 MB

english, 2010

11

A new syndrome of microtia with unilateral renal agenesis and short stature

Ahmet Okay Caglayan, Servi J.C. Stevens, Jozefa C.M. Albrechts, Munis Dundar, John Engelen

Journal:

American Journal of Medical Genetics Part A

Année:

2012

Langue:

english

Fichier:

PDF, 115 KB

english, 2012

12

The Essential Role of Centrosomal NDE1 in Human Cerebral Cortex Neurogenesis

Mehmet Bakircioglu, Ofélia P. Carvalho, Maryam Khurshid, James J. Cox, Beyhan Tuysuz, Tanyeri Barak, Saliha Yilmaz, Okay Caglayan, Alp Dincer, Adeline K. Nicholas, Oliver Quarrell, Kelly Springell, Gu

Journal:

The American Journal of Human Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 1.79 MB

english, 2011

13

Molybdenum cofactor deficiency: Clinical features in a Turkish patient

Hüseyin Per, Hakan Gümüş, Kimiyoshi Ichida, Okay Çağlayan, Sefer Kumandaş

Journal:

Brain and Development

Année:

2007

Langue:

english

Fichier:

PDF, 333 KB

english, 2007

14

How the I1307K adenomatous polyposis coli gene variant contributes in the assessment of risk of colorectal cancer, but not stomach cancer, in a Turkish population

Munis Dundar, Ahmet Okay Caglayan, Cetin Saatci, Hatice Karaca, Mevlut Baskol, Serpil Tahiri, Yusuf Ozkul

Journal:

Cancer Genetics and Cytogenetics

Année:

2007

Langue:

english

Fichier:

PDF, 75 KB

english, 2007

15

Frank-ter Haar syndrome with unusual clinical features

Munis Dundar, Cetin Saatci, Sener Tasdemir, Mustafa Akcakus, Ahmet Okay Caglayan, Yusuf Ozkul

Journal:

European Journal of Medical Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 163 KB

english, 2009

16

Idiopathic hirsutism: local and peripheral expression of aromatase (CYP19A) and 5α-reductase genes (SRD5A1 and SRD5A2)

A. Okay Caglayan, Munis Dundar, Fatih Tanriverdi, Nuran A. Baysal, Kursad Unluhizarci, Yusuf Ozkul, Murat Borlu, Cem Batukan, Fahrettin Kelestimur

Journal:

Fertility and Sterility

Année:

2011

Langue:

english

Fichier:

PDF, 98 KB

english, 2011

17

Lack of association between the Glu298Asp polymorphism of endothelial nitric oxide synthase and slow coronary flow in the Turkish population

Ahmet Okay Caglayan, Nihat Kalay, Cetin Saatci, Arif Yalcın, Hilal Akalın, Munis Dundar

Journal:

Canadian Journal of Cardiology

Année:

2009

Fichier:

PDF, 582 KB

2009

18

Inherited diseases and syndromes leading to aortic aneurysms and dissections

Caglayan, Ahmet Okay, Dundar, Munis

Journal:

European Journal of Cardio-Thoracic Surgery

Année:

2009

Langue:

english

Fichier:

PDF, 146 KB

english, 2009

19

" WATCH WHAT YOU EAT"

Radmanesh, Farid, Caglayan, Ahmet Okay, Silhavy, Jennifer L., Yilmaz, Cahide, Cantagrel, Vincent, Omar, Tarek, Rosti, Başak, Kaymakcalan, Hande, Gabriel, Stacey, Li, Mingfeng, Šestan, Nenad, Bilguvar,

Journal:

Année:

1966

Langue:

english

Fichier:

PDF, 169 KB

english, 1966

20

Mutations in LAMB1 Cause Cobblestone Brain Malformation without Muscular or Ocular Abnormalities

Radmanesh, Farid, Caglayan, Ahmet Okay, Silhavy, Jennifer L., Yilmaz, Cahide, Cantagrel, Vincent, Omar, Tarek, Rosti, Başak, Kaymakcalan, Hande, Gabriel, Stacey, Li, Mingfeng, Šestan, Nenad, Bilguvar,

Journal:

The American Journal of Human Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 991 KB

english, 2013

21

4861780 4(3H)-quinazolinone derivatives and pharmaceutical compositions

Radmanesh, Farid, Caglayan, Ahmet Okay, Silhavy, Jennifer L., Yilmaz, Cahide, Cantagrel, Vincent, Omar, Tarek, Rosti, Başak, Kaymakcalan, Hande, Gabriel, Stacey, Li, Mingfeng, Šestan, Nenad, Bilguvar,

Journal:

General Pharmacology: The Vascular System

Année:

1990

Langue:

english

Fichier:

PDF, 160 KB

english, 1990

22

In England Now

Radmanesh, Farid, Caglayan, Ahmet Okay, Silhavy, Jennifer L., Yilmaz, Cahide, Cantagrel, Vincent, Omar, Tarek, Rosti, Başak, Kaymakcalan, Hande, Gabriel, Stacey, Li, Mingfeng, Šestan, Nenad, Bilguvar,

Journal:

Année:

1988

Langue:

english

Fichier:

PDF, 158 KB

english, 1988

23

P238 – 1858 New mutations detected in primer microcephaly genes by whole-exome sequencing

Per, H, Okay Caglayan, A, Gumus, H, Bilguvar, K, Canpolat, M, Kumandas, S, Gunel, M

Journal:

European Journal of Paediatric Neurology

Année:

2013

Langue:

english

Fichier:

PDF, 84 KB

english, 2013

24

Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: Expansion of the facial and neuroimaging features

Tüysüz, Beyhan, Bilguvar, Kaya, Koçer, Naci, Yalçınkaya, Cengiz, Çağlayan, Okay, Gül, Ece, Şahin, Sezgin, Çomu, Sinan, Günel, Murat

Journal:

American Journal of Medical Genetics Part A

Année:

2014

Langue:

english

Fichier:

PDF, 2.29 MB

english, 2014

25

The Effect of Maras Powder on DNA Methylation and Micronucleus Formation in Human Buccal Tissue

Saatci, Cetin, Ozkul, Yusuf, Tahiri, Serpil, Caglayan, Ahmet Okay, Turhan, Ahmet Bulent, Dundar, Munis

Journal:

Journal of Toxicology and Environmental Health

Année:

2008

Langue:

english

Fichier:

PDF, 227 KB

english, 2008

26

Brain Malformations Associated With Knobloch Syndrome—Review of Literature, Expanding Clinical Spectrum, and Identification of Novel Mutations

Caglayan, Ahmet Okay, Baranoski, Jacob F., Aktar, Fesih, Han, Wengi, Tuysuz, Beyhan, Guzel, Aslan, Guclu, Bulent, Kaymakcalan, Hande, Aktekin, Berrin, Akgumus, Gozde Tugce, Murray, Phillip B., Erson-O

Journal:

Pediatric Neurology

Année:

2014

Langue:

english

Fichier:

PDF, 3.09 MB

english, 2014

27

Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors

Mishra-Gorur, Ketu, Çağlayan, Ahmet Okay, Schaffer, Ashleigh E., Chabu, Chiswili, Henegariu, Octavian, Vonhoff, Fernando, Akgümüş, Gözde Tuğce, Nishimura, Sayoko, Han, Wenqi, Tu, Shu, Baran, Burçin, G

Journal:

Année:

2014

Langue:

english

Fichier:

PDF, 5.86 MB

english, 2014

28

Apolipoprotein E3/E3 Genotype Decreases the Risk of Pituitary Dysfunction after Traumatic Brain Injury due to Various Causes: Preliminary Data

Tanriverdi, Fatih, Taheri, Serpil, Ulutabanca, Halil, Caglayan, Ahmet Okay, Ozkul, Yusuf, Dundar, Munis, Selcuklu, Ahmet, Unluhizarci, Kursad, Casanueva, Felipe F., Kelestimur, Fahrettin

Journal:

Journal of Neurotrauma

Année:

2008

Langue:

english

Fichier:

PDF, 86 KB

english, 2008

29

Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors

Mishra-Gorur, Ketu, Çağlayan, Ahmet Okay, Schaffer, Ashleigh E., Chabu, Chiswili, Henegariu, Octavian, Vonhoff, Fernando, Akgümüş, Gözde Tuğce, Nishimura, Sayoko, Han, Wenqi, Tu, Shu, Baran, Burçin, G

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 101 KB

english, 2015

30

Prenatal Diagnosis of a Fetus with Partial Trisomy 7p

Ozgun, Mahmut Tuncay, Batukan, Cem, Basbug, Mustafa, Akgun, Hulya, Caglayan, Okay, Dundar, Munis

Journal:

Fetal Diagnosis and Therapy

Année:

2007

Langue:

english

Fichier:

PDF, 155 KB

english, 2007

31

A rare case of congenital fibrosis of extraocular muscle type 1A due to KIF21A mutation with Marcus Gunn jaw-winking phenomenon

Kaçar Bayram, Ayşe, Per, Hüseyin, Quon, Jennifer, Canpolat, Mehmet, Ülgen, Ege, Doğan, Hakkı, Gumus, Hakan, Kumandas, Sefer, Bayram, Nurettin, Bilguvar, Kaya, Çağlayan, Ahmet Okay

Journal:

European Journal of Paediatric Neurology

Année:

2015

Langue:

english

Fichier:

PDF, 479 KB

english, 2015

32

Expression of WT1 gene in multiple myeloma patients at diagnosis: is WT1 gene expression a useful marker in multiple myeloma?

Saatci, Cetin, Caglayan, A. Okay, Kocyigit, Ismail, Akalin, Hilal, Kaynar, Leyla G., Altuntas, Fevzi, Eser, Bulent, Demir, Muzaffer, Cetin, Mustafa, Ozkul, Yusuf

Journal:

Hematology (American Society of Hematology)

Année:

2010

Langue:

english

Fichier:

PDF, 94 KB

english, 2010

33

The Relationship Between Slow Coronary Flow and Angiotensin Converting Enzyme and ATIIR1 Gene Polymorphisms

Yalcin, Ahmet Arif, Kalay, Nihat, Caglayan, Ahmet Okay, Kayaalti, Fatma, Duran, Mustafa, Ozdogru, Ibrahim, Inanc, Mehmet Tugrul, Dogan, Ali, Basar, Emrullah, Oguzhan, Abdurrahman

Journal:

Journal of the National Medical Association

Année:

2009

Langue:

english

Fichier:

PDF, 2.10 MB

english, 2009

34

Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features

Johansen, Anide, Rosti, Rasim O., Musaev, Damir, Sticca, Evan, Harripaul, Ricardo, Zaki, Maha, Çağlayan, Ahmet Okay, Azam, Matloob, Sultan, Tipu, Froukh, Tawfiq, Reis, André, Popp, Bernt, Ahmed, Iltaf

Journal:

The American Journal of Human Genetics

Année:

2016

Langue:

english

Fichier:

PDF, 639 KB

english, 2016

35

Constitutive mismatch repair defect syndrome: New insights from whole exome sequencing data and functional studies

Caglayan, Ahmet Okay, Omay, Zeynep E. Erson, Koksal, Yavuz, Coskun, Suleyman, Unal, Ekrem, Per, Huseyin, Bilguvar, Kaya, Yasuno, Katsuhito, Ostergaard, John Rosendahl, Gunel, Murat

Journal:

Journal of Biotechnology

Année:

2016

Langue:

english

Fichier:

PDF, 70 KB

english, 2016

36

The Deletion Polymorphism of the Angiotensin-Converting Enzyme Gene Is Associated with Acute Aortic Dissection

Kalay, Nihat, Caglayan, Okay, Akkaya, Hasan, Ozdogru, Ibrahim, Dogan, Ali, Inanc, Mehmet Tugrul, Kaya, Mehmet Gungor, Ergin, Ali, Topsakal, Ramazan, Çiçek, Davran, Eryol, Namik Kemal, Tasdemir, Kutay,

Journal:

The Tohoku Journal of Experimental Medicine

Année:

2009

Langue:

english

Fichier:

PDF, 348 KB

english, 2009

37

ALPK3 GENE MUTATION IN A PATIENT WITH CONGENITAL CARDIOMYOPATHY AND DYSMORPHIC FEATURES

Cağlayan, Ahmet Okay, Sezer, Rabia Gonul, Kaymakcalan, Hande, Ulgen, Ege, Yavuz, Taner, Baranoski, Jacob F., Bozaykut, Abdulkadir, Serin Harmanci, Akdes, Yalcin, Yalim, Youngblood, Mark W., Yasuno, Ka

Journal:

Molecular Case Studies

Année:

2017

Langue:

english

Fichier:

PDF, 379 KB

english, 2017

38

Homozygous CAPN1 mutations causing a spastic-ataxia phenotype in 2 families

Kocoglu, Cemile, Gundogdu, Asli, Kocaman, Gulsen, Kahraman-Koytak, Pinar, Uluc, Kayihan, Kiziltan, Gunes, Caglayan, Ahmet Okay, Bilguvar, Kaya, Vural, Atay, Basak, A. Nazli

Journal:

Neurology: Genetics

Année:

2018

Langue:

english

Fichier:

PDF, 75 KB

english, 2018

39

Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration

Schaffer, Ashleigh E., Breuss, Martin W., Caglayan, Ahmet Okay, Al-Sanaa, Nouriya, Al-Abdulwahed, Hind Y., Kaymakçalan, Hande, Yılmaz, Cahide, Zaki, Maha S., Rosti, Rasim O., Copeland, Brett, Baek, Se

Journal:

Nature Genetics

Année:

2018

Langue:

english

Fichier:

PDF, 3.38 MB

english, 2018

40

Loss of protocadherin-12 leads to Diencephalic-Mesencephalic Junction Dysplasia syndrome

Guemez-Gamboa, Alicia, Çağlayan, Ahmet Okay, Stanley, Valentina, Gregor, Anne, Zaki, Maha, Saleem, Sahar N., Musaev, Damir, McEvoy-Venneri, Jennifer, Belandres, Denice, Akizu, Naiara, Silhavy, Jennife

Journal:

Annals of Neurology

Année:

2018

Langue:

english

Fichier:

PDF, 1.24 MB

english, 2018

41

MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive c erebellar, o cular, cranio f acial and g enital features (COFG syndrome)

Rad, Abolfazl, Altunoglu, Umut, Miller, Rebecca, Maroofian, Reza, James, Kiely N, Çağlayan, Ahmet Okay, Najafi, Maryam, Stanley, Valentina, Boustany, Rose-Mary, Yeşil, Gözde, Sahebzamani, Afsaneh, Erc

Journal:

Journal of Medical Genetics

Année:

2018

Langue:

english

Fichier:

PDF, 1.02 MB

english, 2018

42

COQ4 Mutation Leads to Childhood-Onset Ataxia Improved by CoQ10 Administration

Caglayan, Ahmet Okay, Gumus, Hakan, Sandford, Erin, Kubisiak, Thomas L., Ma, Qianyi, Ozel, A. Bilge, Per, Huseyin, Li, Jun Z., Shakkottai, Vikram G., Burmeister, Margit

Journal:

Année:

2019

Langue:

english

Fichier:

PDF, 697 KB

english, 2019