Search Results - "Tuğ Bozdoğan, Sevcan"

Early diagnostic clues of mucolipidosis type II: Significance of radiological findings by Burgac, Ezgi, Kaplan, İrem, Köseci, Burcu, Kara, Esra, Kor, Deniz, Bulut, Fatma Derya, Atmış, Anıl, Pişkin, Ferhatcan, Tuğ Bozdoğan, Sevcan, Urel Demir, Gizem, İncecik, Faruk, Önenli Mungan, Neslihan

“…Mucolipidosis type‐II (ML‐II) is an ultra‐rare disorder caused by deficiency of N‐acetylglucosaminyl‐1‐phosphotransferase enzyme due to biallelic pathogenic…”
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Pyruvate kinase deficiency in 29 Turkish patients with two novel intronic variants by Gök, Veysel, Leblebisatan, Göksel, Gürlek Gökçebay, Dilek, Güler, Salih, Doğan, Muhammet Ensar, Tuğ Bozdoğan, Sevcan, Koca Yozgat, Ayça, Özcan, Alper, Pekpak Şahinoğlu, Esra, Tokgöz, Hüseyin, Çil, Metin, Özemri Sağ, Şebnem, Yilmaz, Ebru, Şaşmaz, Hatice İlgen, Evim, Melike Sezgin, Akbayram, Sinan, Karadoğan, Meriban, Mutlu, Fatma Türkan, Boğa, İbrahim, Yeter Doğan, Burcu, Yarali, Neşe, Çalişkan, Ümran, Bişgin, Atil, Temel, Şehime Gülsün, Proven, Melanie, Gibson, Kate, Demir, Büşra Şeniz, Saraçoğlu, Hatice, Eken, Ahmet, Karakükçü, Çiğdem, Karakükçü, Musa, Güneş, Adalet Meral, Özbek, Namık Yaşar, Kilinç, Yurdanur, Patiroğlu, Türkan, Özdemir, Mehmet Akif, Roy, Noemi B A, Ünal, Ekrem

“…Pyruvate kinase (PK) is a key enzyme of anaerobic glycolysis. The genetic heterogeneity of PK deficiency (PKD) is high, and over 400 unique variants have been…”
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A Novel Intronic Mutation Reduces HAX1 Level and is Associated With Severe Congenital Neutropenia by Goktas, Serdar, Azizoglu, Zehra B., Petersheim, Daniel, Erdogan, Merve, Eke Gungor, Hatice, Bisgin, Atil, Tuğ Bozdoğan, Sevcan, Eken, Ahmet, Unal, Ekrem, Klein, Christoph, Patiroglu, Turkan

“…Severe congenital neutropenia (SCN) is a rare disease. Autosomal recessive forms of SCN are more frequent in countries where consanguineous marriages are…”
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Clinical, radiological, and genetic variation in pontocerebellar hypoplasia disorder and our clinical experience by Bilge, Serap, Mert, Gülen Gül, Hergüner, Özlem, Özcanyüz, Duygu, Bozdoğan, Sevcan Tuğ, Kaya, Ömer, Havalı, Cengiz

“…Abstract Pontocerebellar hypoplasia (PCH) constitutes a heterogeneous neurodegenerative/neurodevelopmental disorder of the pons and cerebellum with onset in…”
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Vandetanib in a Child Affected by Neurofibromatosis Type 1 and Medullary Thyroid Carcinoma with Both NF1 and Homozygous RET Proto-oncogen Germ-line Mutations by Gundogan, Begumhan Demir, Sagcan, Fatih, Bozdogan, Sevcan Tug, Balci, Yuksel, Daloglu, Ferah Tuncel, Citak, Elvan Caglar

“…Cases of neurofibromatosis type 1 ( )-associated medullary thyroid carcinoma (MTC) or C-cell hyperplasia are rarely associated with other endocrine tumors or…”
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Current Approach to Genetic Causes of Female Infertility and Genetic Counseling by SHIRINOVA, Nıgar, YALÇIN, Fatma Zehra, TUĞ BOZDOĞAN, Sevcan

“…Infertility is a disease of the male or female reproductive system and is defined as the inability to achieve pregnancy after 12 months or more of regular and…”
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Shprintzen-Goldberg Syndrome: Case Report by Yalçıntepe, Sinem, Özalp Yüreğir, Özge, Tuğ Bozdoğan, Sevcan, Aslan, Hüseyin

“…Shprintzen-Goldberg syndrome is a rare syndrome with craniosynostosis of coronal, sagittal or lambdoidal sutures, dolichocephaly, typical craniofacial…”
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The Prevalence of Gap Junction Protein Beta 2 (GJB2) Mutations in Non Syndromic Sensorineural Hearing Loss in Çukurova Region by Bozdoğan, Sevcan Tuğ, Kuran, Gökhan, Yüregir, Özge Özalp, Aslan, Hüseyin, Haytoğlu, Süheyl, Ayaz, Akif, Arıkan, Osman Kürşat

“…To date, studies in all populations showed that mutations in the gene of Gap junction protein beta 2 (GJB2) play an important role in non-syndromic autosomal…”
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Bialelic Pathogenic (c.830G>A(p.R277Q)) Variant Disrupting the GNE Gene Function and Causes Nonaka myopathy Phenotype by Doğan, Mustafa, Akbulut, Ekrem, Gezdirici, Alper, Eroz, Recep, Bozdoğan, Sevcan Tuğ

“…Nonaka myopathy (MIM 605820) is caused by homozygous pathogenic variants in the GNE gene. It is a recessively inherited early adult-onset myopathy that usually…”
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Expanding the phenotypic landscape of Gaucher disease type 3c with a novel entity - Transient neonatal cholestasis by Bulut, Fatma Derya, Kor, Deniz, Kılavuz, Sebile, Şeker Yılmaz, Berna, Kaplan, İrem, Ekinci, Faruk, Burgaç, Ezgi, Varol, İlknur, Köşeci, Burcu, Tuğ Bozdoğan, Sevcan, Kara, Esra, Demir, Fadli, Deniz, Ali, Temiz, Fatih, Önenli Mungan, Neslihan

“…Gaucher disease (GD) is the most frequent lysosomal storage disorder due to biallelic pathogenic variants in GBA gene. Only homozygous D409H variant has been…”
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Current Approach to Genetic Causes of Male Infertility and Genetic Counseling by BEREKETOĞLU, Muhammed Burak, ABDULLAYEV, Rashad, TUĞ BOZDOĞAN, Sevcan

“…Generally, infertility is defined as the inability of couples who have had unprotected and regular intercourse for at least 12 months or longer to conceive…”
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A novel mutation of ROBO3 in horizontal gaze palsy with progressive scoliosis by Bozdoğan, Sevcan Tuğ, Dinç, Erdem, Sarı, A. Ayça, Özgür, Anıl, Bişgin, Atıl

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Tıbbi genetik uygulamalarında altın standart fenomiks: tüm ekzom analizi yapılan 3 nörogenetik hasta örneği by Tuğ Bozdoğan,Sevcan, Boğa,İbrahim, Bişgin,Atıl

“…Sayın Editör, Tüm ekzom dizileme analizi (Whole-exome-sequencing-WES) genetik etiyolojisinde heterojenite gösteren hastalıkların tanısında etkili bir…”
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Epilepsi ve anlıksal yetiyitimi olan hastalarda moleküler karyotiplemenin klinik yararı by Bişgin,Atıl, Tuğ Bozdoğan,Sevcan

“…Amaç: Çalışmamızda epilepsi ve anlıksal yetiyitimlerinde ilk basamak tanı testi olarak moleküler karyotipleme yapmayı ve bu hastalıklar ile ilişkisini ortaya…”
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Familial hypertrophic cardiomyopathy: A case with a new mutation in the MYBPC3 gene by Hallıoğlu Kılınç, Olgu, Giray, Dilek, Bişgin, Atıl, Tuğ Bozdoğan, Sevcan, Karpuz, Derya

“…Familial hypertrophic cardiomyopathy is a genetically heterogeneous disease with variable clinical features that is inherited as autosomal dominant with…”
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A Novel Intronic Mutation Reduces HAX1 Level and is Associated With Severe Congenital Neutropenia by Goktas, Serdar, Azizoglu, Zehra B., Petersheim, Daniel, Erdogan, Merve, Eke Gungor, Hatice, Bisgin, Atil, Tuğ Bozdoğan, Sevcan, Eken, Ahmet, Unal, Ekrem, Klein, Christoph, Patiroglu, Turkan

“…Severe congenital neutropenia (SCN) is a rare disease. Autosomal recessive forms of SCN are more frequent in countries where consanguineous marriages are…”
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A rare cause of mental retardation and epilepsy: Pediatric patient with 22q duplication and 6p deletion by Tuğ Bozdoğan,Sevcan, Perk,Peren, Altunbaşak,Şakir, Bişgin,Atıl

“…Mental retardation is a public health problem that has been seen approximately 1-4% of the population. Conventional cytogenetic analysis is still the first…”
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Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease by Karaca, Ender, Harel, Tamar, Pehlivan, Davut, Jhangiani, Shalini N., Gambin, Tomasz, Coban Akdemir, Zeynep, Gonzaga-Jauregui, Claudia, Erdin, Serkan, Bayram, Yavuz, Campbell, Ian M., Hunter, Jill V., Atik, Mehmed M., Van Esch, Hilde, Yuan, Bo, Wiszniewski, Wojciech, Isikay, Sedat, Yesil, Gozde, Yuregir, Ozge O., Tug Bozdogan, Sevcan, Aslan, Huseyin, Aydin, Hatip, Tos, Tulay, Aksoy, Ayse, De Vivo, Darryl C., Jain, Preti, Geckinli, B. Bilge, Sezer, Ozlem, Gul, Davut, Durmaz, Burak, Cogulu, Ozgur, Ozkinay, Ferda, Topcu, Vehap, Candan, Sukru, Cebi, Alper Han, Ikbal, Mevlit, Yilmaz Gulec, Elif, Gezdirici, Alper, Koparir, Erkan, Ekici, Fatma, Coskun, Salih, Cicek, Salih, Karaer, Kadri, Koparir, Asuman, Duz, Mehmet Bugrahan, Kirat, Emre, Fenercioglu, Elif, Ulucan, Hakan, Seven, Mehmet, Guran, Tulay, Elcioglu, Nursel, Yildirim, Mahmut Selman, Aktas, Dilek, Alikaşifoğlu, Mehmet, Ture, Mehmet, Yakut, Tahsin, Overton, John D., Yuksel, Adnan, Ozen, Mustafa, Muzny, Donna M., Adams, David R., Boerwinkle, Eric, Chung, Wendy K., Gibbs, Richard A., Lupski, James R.

“…Development of the human nervous system involves complex interactions among fundamental cellular processes and requires a multitude of genes, many of which…”
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BRCA mutation characteristics in a series of index cases of breast cancer selected independent of family history by Bisgin, Atil, Boga, Ibrahim, Yalav, Orcun, Sonmezler, Ozge, Tug Bozdogan, Sevcan

“…Certain genetic predisposition factors, such as BRCA1 and BRCA2 mutations play a pivotal role in familial breast cancer development in both males and females…”
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Hereditary Spastic Paraplegia Type 26 with a Novel Mutation in B4GALNT1 Gene and Literature Review of the Clinical Features by Incecık, Faruk, Herguner, Ozlem M, Bozdogan, Sevcan Tug

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