Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss
Diaz-Horta, Oscar, Duman, Duygu, Foster, 2nd, Joseph, Sırmacı, Aslı, Gonzalez, Michael, Mahdieh, Nejat, Fotouhi, Nikou, Bonyadi, Mortaza, Cengiz, Filiz Başak, Menendez, Ibis, Ulloa, Rick H, Edwards, Yvonne J K, Züchner, Stephan, Blanton, Susan, Tekin, Mustafa
Published in PloS one (30.11.2012)
Published in PloS one (30.11.2012)
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Journal Article
Homozygous Mutations in Fibroblast Growth Factor 3 Are Associated with a New Form of Syndromic Deafness Characterized by Inner Ear Agenesis, Microtia, and Microdontia
Tekin, Mustafa, Hişmi, Burcu Öztürk, Fitoz, Suat, Özdağ, Hilal, Cengiz, Filiz Başak, Sırmacı, Aslı, Aslan, İdil, İnceoğlu, Bora, Yüksel-Konuk, E. Berrin, Yılmaz, Seda Taşır, Yasun, Öztan, Akar, Nejat
Published in American journal of human genetics (01.02.2007)
Published in American journal of human genetics (01.02.2007)
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Journal Article
Evaluation of interleukin-23 receptor (IL-23R) gene polymorphisms and serum IL-23 levels in patients with psoriasis
Filiz, Başak, Yıldırım, Mehmet, Hekimler Öztürk, Kuyaş, Şirin, Fevziye Burcu, Çelik, Seda, Erturan, İjlal, Korkmaz, Selma, Orhan, Hikmet
Published in Turkish journal of medical sciences (24.10.2019)
Published in Turkish journal of medical sciences (24.10.2019)
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Journal Article
İdiopathic palmoplantar filiform hyperkeratosis succesfully treated with systemic isotretinoin
Korkmaz, Selma, Erturan, İjlal, Filiz, Başak, Karahan, Nermin, Ciriş, İbrahim Metin, Yıldırım, Mehmet
Published in Türkderm (17.10.2019)
Published in Türkderm (17.10.2019)
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Journal Article
HPSE2 Mutations in Urofacial Syndrome, Non-Neurogenic Neurogenic Bladder and Lower Urinary Tract Dysfunction
Bulum, Burcu, Özçakar, Z. Birsin, Duman, Duygu, Cengiz, Filiz Başak, Kavaz, Aslı, Burgu, Berk, Baskın, Esra, Çakar, Nilgün, Soygür, Tarkan, Ekim, Mesiha, Tekin, Mustafa, Yalçınkaya, Fatoş
Published in Nephron (01.01.2015)
Published in Nephron (01.01.2015)
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Journal Article
Familial neonatal Marfan syndrome due to parental mosaicism of a missense mutation in the FBN1 gene
Tekin, Mustafa, Cengiz, Filiz Başak, Ayberkin, Eda, Kendirli, Tanıl, Fitoz, Suat, Tutar, Ercan, Çiftçi, Ergin, Conba, Atakan
Published in American journal of medical genetics. Part A (15.04.2007)
Published in American journal of medical genetics. Part A (15.04.2007)
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Journal Article
Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: A report of five novel mutations
Sırmacı, Aslı, Duman, Duygu, Öztürkmen-Akay, Hatice, Erbek, Seyra, İncesulu, Armağan, Öztürk-Hişmi, Burcu, Arıcı, Z. Serap, Yüksel-Konuk, E. Berrin, Taşır-Yılmaz, Seda, Tokgöz-Yılmaz, Suna, Cengiz, Filiz Başak, Aslan, İdil, Yıldırım, Müzeyyen, Hasanefendioğlu-Bayrak, Aylin, Ayçiçek, Abdullah, Yılmaz, İsmail, Fitoz, Suat, Altın, Fazilet, Özdağ, Hilal, Tekin, Mustafa
Published in International journal of pediatric otorhinolaryngology (01.05.2009)
Published in International journal of pediatric otorhinolaryngology (01.05.2009)
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Journal Article
Hypophosphatasia: is it an underdiagnosed disease even by expert physicians?
İnci, Aslı, Ergin, Filiz Başak Cengiz, Yüce, Burcu Topcu, Çiftçi, Bahattin, Demir, Ercan, Buyan, Necla, Okur, İlyas, Biberoğlu, Gürsel, Öktem, Rıdvan Murat, Tümer, Leyla, Ezgü, Fatih Süheyl
Published in Journal of bone and mineral metabolism (01.07.2021)
Published in Journal of bone and mineral metabolism (01.07.2021)
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Journal Article
Ripor2 is involved in auditory hair cell stereociliary bundle structure and orientation
Diaz-Horta, Oscar, Abad, Clemer, Cengiz, Filiz Basak, Bademci, Guney, Blackwelder, Pat, Walz, Katherina, Tekin, Mustafa
Published in Journal of molecular medicine (Berlin, Germany) (01.11.2018)
Published in Journal of molecular medicine (Berlin, Germany) (01.11.2018)
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Journal Article
Evaluation of monocyte to HDL cholesterol ratio and other inflammatory markers in patients with psoriasis
Sirin, Mumtaz Cem, Korkmaz, Selma, Erturan, Ijlal, Filiz, Basak, Aridogan, Buket Cicioglu, Cetin, Emel Sesli, Yildirim, Mehmet
Published in Anais brasileiros de dermatología (01.09.2020)
Published in Anais brasileiros de dermatología (01.09.2020)
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Journal Article
The first case with FBXL4 mutation successfully treated with a parenteral ketogenic diet for lactic acidosis
İnci, Aslı, Aktaş, Emine, Cengiz Ergin, Filiz Başak, Okur, İlyas, Biberoğlu, Gürsel, Ezgü, Fatih Süheyl, Tümer, Leyla
Published in JPEN. Journal of parenteral and enteral nutrition (01.11.2021)
Published in JPEN. Journal of parenteral and enteral nutrition (01.11.2021)
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Journal Article
Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability
McSherry, Megan, Masih, Katherine E, Elcioglu, Nursel H, Celik, Pelin, Balci, Ozge, Cengiz, Filiz Basak, Nunez, Daniella, Sineni, Claire J, Seyhan, Serhat, Kocaoglu, Defne, Guo, Shengru, Duman, Duygu, Bademci, Guney, Tekin, Mustafa
Published in PloS one (30.11.2018)
Published in PloS one (30.11.2018)
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Journal Article
A possibly new autoinflammatory disease due to compound heterozygous phosphomevalonate kinase gene mutation
Yıldız, Çisem, Gezgin Yıldırım, Deniz, Inci, Asli, Tümer, Leyla, Cengiz Ergin, Filiz Basak, Sunar Yayla, Emine Nur Sunar, Esmeray Şenol, Pelin, Karaçayır, Nihal, Eğritaş Gürkan, Ödül, Okur, Ilyas, Ezgü, Fatih S., Bakkaloğlu, Sevcan A.
Published in Joint, bone, spine : revue du rhumatisme (01.01.2023)
Published in Joint, bone, spine : revue du rhumatisme (01.01.2023)
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Journal Article
Expected or unexpected clinical findings in liver glycogen storage disease type IX: distinct clinical and molecular variability
İnci, Aslı, Kılıç Yıldırım, Gonca, Cengiz Ergin, Filiz Başak, Sarı, Sinan, Eğritaş Gürkan, Ödül, Okur, İlyas, Biberoğlu, Gürsel, Bükülmez, Ayşegül, Ezgü, Fatih Süheyl, Dalgıç, Buket, Tümer, Leyla
Published in Journal of Pediatric Endocrinology & Metabolism (26.04.2022)
Published in Journal of Pediatric Endocrinology & Metabolism (26.04.2022)
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Journal Article
A Turkish case of incontinentia pigmenti with a deletion mutation at Inhibitor of kappa B kinase gamma gene
Ergin, Filiz Başak Cengiz, Tekin, Mustafa, Güneş, Meltem, Güneş, Begüm, Baysun, Şahika, Akar, Nejat
Published in Egyptian Journal of Medical Human Genetics (19.01.2022)
Published in Egyptian Journal of Medical Human Genetics (19.01.2022)
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