Whole-exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum
Caglayan, AO, Per, H, Akgumus, G, Gumus, H, Baranoski, J, Canpolat, M, Calik, M, Yikilmaz, A, Bilguvar, K, Kumandas, S, Gunel, M
Published in Clinical genetics (01.10.2013)
Published in Clinical genetics (01.10.2013)
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Journal Article
High frequency of p.Thr93Met in Smith-Lemli-Opitz syndrome patients in Turkey
Kalb, S, Caglayan, AO, Degerliyurt, A, Schmid, S, Ceylaner, S, Hatipoglu, N, Hinderhofer, K, Rehder, H, Kurtoglu, S, Ceylaner, G, Zschocke, J, Witsch-Baumgartner, M
Published in Clinical genetics (01.06.2012)
Published in Clinical genetics (01.06.2012)
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Journal Article
A NEW PATIENT WITH ANDERMANN SYNDROME: AN UNDERDIAGNOSED CLINICAL GENETICS ENTITY?
DEGERLIYURT, A, AKGUMUS, G, CAGLAR, C, BILGUVAR, K, CAGLAYAN, A. O
Published in Genetic counseling (01.01.2013)
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Published in Genetic counseling (01.01.2013)
Journal Article
A boy with classical Rubinstein-Taybi syndrome but no detectable mutation in the CREBBP and EP300 genes
Caglayan, A O, Lechno, S, Gumus, H, Bartsch, O, Fryns, J P
Published in Genetic counseling (01.01.2011)
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Published in Genetic counseling (01.01.2011)
Journal Article
A case with a rare chromosomal abnormality: isochromosome 18p
Dundar, M, Caglayan, A O, Saatci, C, Cetin, Z, Arslan, K, Uzak, A S
Published in Genetic counseling (2010)
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Published in Genetic counseling (2010)
Journal Article
A unique case of a patient with partial trisomy 22 and lipodystrophy: is it a new syndrome due to an IGF-IR mutation?
Caglayan, A O, Klammt, J, Kiess, W, Hatipoglu, N, Pfäffle, R, Kurtoglu, S, Saatci, C, Dundar, M
Published in Genetic counseling (01.01.2010)
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Published in Genetic counseling (01.01.2010)
Journal Article
Mixed gonadal dysgenesis with 45,X/46,X,idic(Y)/46,XY,idic(Y) karyotype
Caglayan, A O, Demiryilmaz, F, Kendirci, M, Ozyazgan, I, Akalin, H, Bittmann, S
Published in Genetic counseling (01.01.2009)
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Published in Genetic counseling (01.01.2009)
Journal Article
A provisionally unique syndrome with features including "molar tooth" sign and "femoral hypoplasia"
Caglayan, A O, Gumus, H, Yikilmaz, A, Gumus, G O, Per, H
Published in Genetic counseling (01.01.2009)
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Published in Genetic counseling (01.01.2009)
Journal Article
Fluorescence in situ hybridization and single nucleotide polymorphism of a new case with inv dup del(8p)
Caglayan, A O, Engelen, J J M, Ghesquiere, S, Alofs, M, Saatci, C, Dundar, M
Published in Genetic counseling (01.01.2009)
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Published in Genetic counseling (01.01.2009)
Journal Article
Can the classical euchromatic variants of 9q12/qh+ cause recurrent abortions?
Dundar, M, Caglayan, A O, Saatci, C, Batukan, C, Basbug, M, Ozkul, Y
Published in Genetic counseling (01.01.2008)
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Published in Genetic counseling (01.01.2008)
Journal Article
Scoliosis, blindness and arachnodactyly in a large Turkish family: is it a new syndrome?
Dundar, M, Erkilic, K, Argun, M, Caglayan, A O, Comeglio, P, Koseoglu, E, Matyas, G, Child, A H
Published in Genetic counseling (2008)
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Published in Genetic counseling (2008)
Journal Article
Investigation of different genomic variants in familial Mediterranean fever cases with monoallelic MEFV mutation
Kocabey, Mehmet, Cankaya, Tufan, Bayram, Meral Torum, Ulgenalp, Ayfer, Caglayan, Ahmet Okay, Giray Bozkaya, Ozlem
Published in Clinical and experimental rheumatology (01.10.2023)
Published in Clinical and experimental rheumatology (01.10.2023)
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Journal Article
662 The First Turkish Case of Glucose Transporter Type 1 Deficiency Syndrome (GLUT 1D) with Molecular Studies
Gumus, H, Caglayan, A O, Per, H, Kumandas, S, Engelstad, K, Kardes, F, De Vivo, D
Published in Pediatric research (01.11.2010)
Published in Pediatric research (01.11.2010)
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Journal Article
Lack of association between the Glu298Asp polymorphism of endothelial nitric oxide synthase and slow coronary flow in the Turkish population
Caglayan, Ahmet Okay, MD, Kalay, Nihat, MD, Saatci, Cetin, PhD, Yalcın, Arif, MD, Akalın, Hilal, MSc, Dundar, Munis, MD
Published in Canadian journal of cardiology (01.03.2009)
Published in Canadian journal of cardiology (01.03.2009)
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Journal Article