Search Results - "Demir, Senol"

Secondary findings in 622 Turkish clinical exome sequencing data by Arslan Ateş, Esra, Türkyilmaz, Ayberk, Yıldırım, Özlem, Alavanda, Ceren, Polat, Hamza, Demir, Şenol, Çebi, Alper Han, Geçkinli, Bilgen Bilge, Güney, Ahmet İlter, Ata, Pınar, Arman, Ahmet

“…CES (Clinical Exome Sequencing) is a method that we use to diagnose rare diseases with nonspesific clinical features. Besides primary indication for testing…”
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Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations by Vanbelleghem, Eva, Van Damme, Tim, Beyens, Aude, Symoens, Sofie, Claes, Kathleen, De Backer, Julie, Meerschaut, Ilse, Vanommeslaeghe, Floris, Delanghe, Sigurd E, van den Ende, Jenneke, Beyltjens, Tessi, Scimone, Eleanor R, Lindsay, Mark E, Schimmenti, Lisa A, Hinze, Alicia M, Dunn, Emily, Gomez-Ospina, Natalia, Vandernoot, Isabelle, Delguste, Thomas, Coppens, Sandra, Cormier-Daire, Valérie, Tartaglia, Marco, Garavelli, Livia, Shieh, Joseph, Demir, Şenol, Arslan Ateş, Esra, Zenker, Martin, Rohanizadegan, Mersedeh, Rivera-Cruz, Greysha, Douzgou, Sofia, Lin, Angela E, Callewaert, Bert

“…Myhre syndrome (MS, MIM 139210) is a rare multisystemic disorder caused by recurrent pathogenic missense variants in SMAD4. The clinical features have been…”
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Mutation Spectrum of Familial Adenomatous Polyposis Patients in Turkish Population: Identification of 3 Novel APC Mutations by Arslan Ateş, Esra, Alavanda, Ceren, Demir, Şenol, Keklikkıran, Çağlayan, Attaallah, Wafi, Özdoğan, Osman Cavit, Güney, Ahmet İlter

“…Familial adenomatous polyposis (OMIM #175100) and MUTYH-associated polyposis (OMIM #608456) are rare cancerprone disorders characterized by hundreds of…”
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PB1957: PROGNOSTIC SIGNIFICANCE OF CHRONIC LYMPHOCYTIC LEUKEMIA WITH IGHV‐U IN THE ERA OF NOVEL AGNETS; REAL‐LİFE DATA by Arikan, Fatma, Ata, Pinar, Demir, Senol, Yildirim, Ozlem, Mehtap, Özgür, Erol, Atakan, Orhan, Bedrettin, Ozkalemkas, Fahir, Menguc, Meral Ulukoylu, Demirtas, Derya, Yanik, Ahmet Mert, Candan, Ozlem, Toptas, Tayfur, Tuglular, Ayse Tulin

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First Patient Diagnosed as Feingold Syndrome Type 2 with Alport Syndrome and Review of the Current Literature by Demir, Şenol, Söylemez, Mehmet A., Arman, Ahmet, Ata, Pınar

“…Introduction: Feingold syndrome type 2 (FGLDS2) is an ultra-rare genetic disorder characterized by short stature, microcephaly, digital abnormalities, and…”
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A Second Family with Myhre Syndrome Caused by the Same Recurrent SMAD4 Pathogenic Variation (p.Arg496Cys) by Demir, Şenol, Alavanda, Ceren, Yeşil, Gözde, Aslanger, Ayça Dilruba, Ateş, Esra Arslan

“…Introduction: Myhre syndrome (MS; OMIM #139210) is a rare connective tissue disorder presenting with cardiovascular, respiratory, gastrointestinal, and…”
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PB2657: DIFFERENT TYPES OF LEUKEMIAS AND BLEEDING DISORDER DETECTED IN A TURKISH FAMILY WITH GERMLINE RUNX1 MUTATION FOR THE FIRST TIME by Ata, Pinar, Demir, Şenol, Arikan, Fatma, Toptas, Tayfur, Arman, Ahmet

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Severe adrenal insufficiency in six neonates with normal newborn screening for CAH by Kurt, Ilknur, Eser, Metin, Kahveci, Ahmet, Ucar, Ahmet, Bulus, Derya, Ozcabi, Bahar, Guran, Omer, Karagozlu, Selen, Ersoy, Aysenur, Demir, Senol, Geckinli, Bilge, Guran, Tulay

“…Background Newborn screening (NBS) reduces the risk of mortality in congenital adrenal hyperplasia (CAH), mainly due to the salt‐wasting form of 21‐hydroxylase…”
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PHARC syndrome which an ultra-rare syndrome with retinitis pigmentosa and cataracts: case report and review of the literature by Demir, Senol, Sevik, Mehmet Orkun, Ersoy, Aysenur, Geckinli, Bilgen Bilge, Sahin, Ozlem, Arslan Ates, Esra

“…PHARC syndrome (MIM:612674) is a rare neurodegenerative disorder characterized by demyelinating polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and…”
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New Ostrowski Type Inequalities for Trigonometrically Convex Functions Via Classical Integrals by DEMİR, Şenol, MADEN, Selahattin

“…In the paper, we introduce the class of trigonometrically convex functions and using the Hölder, Hölder-Işcan, Power-mean and Improved power-mean integral…”
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On new Simpson’s type ınequalities for trigonometrically convex functions with applications by DEMİR, Şenol, MADEN, Selahattin, İŞCAN, İmdat, KADAKAL, Mahir

“…The aim of this article is to define a special case of h- convex function, namely the notion of a trigonometrically convex function. Using the Hölder,…”
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A Rare Presentation of 17α Hydroxylase/17,20 Lyase Deficiency in a Patient with non-Hodgkin's Lymphoma: A Case Report by Tekkeli, Niran, Kurt, Ilknur, Yalman, Nevin, Timur, Çetin, Demir, Şenol, Sağsak, Elif

“…17α‑hydroxylase/17,20‑lyase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia that causes decreased cortisol and sex steroid levels and leads…”
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NKX2-5 Gene Variants Associated with Congenital Heart Defects in Turkish Population by Geçkinli, Bilgen Bilge, Girgin Özgümüş, Gözde, Demir, Şenol, Türkyilmaz, Ayberk, Akalın, Figen

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Expanding the Clinical Features of Schimke Immuno-Osseous Dysplasia: A New Patient with a Novel Variant and Novel Clinical Findings by Alavanda, Ceren, Demir, Şenol, Güven, Serçin, Eltan, Mehmet, Bilgiç Eltan, Sevgi, Sefer, Asena Pınar, Pul, Serim, Güran, Tülay, Alpay, Harika, Arman, Ahmet, Ata, Pınar, Turan, Serap

“…Schimke Immuno-Osseous Dysplasia (SIOD) (MIM:242900) is an ultra-rare autosomal recessive pan-ethnic pleiotropic disease. Typical findings of this syndrome are…”
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Correction: Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations by Vanbelleghem, Eva, Van Damme, Tim, Beyens, Aude, Symoens, Sofie, Claes, Kathleen, De Backer, Julie, Meerschaut, Ilse, Vanommeslaeghe, Floris, Delanghe, Sigurd E, van den Ende, Jenneke, Beyltjens, Tessi, Scimone, Eleanor R, Lindsay, Mark E, Schimmenti, Lisa A, Hinze, Alicia M, Dunn, Emily, Gomez-Ospina, Natalia, Vandernoot, Isabelle, Delguste, Thomas, Coppens, Sandra, Cormier-Daire, Valérie, Tartaglia, Marco, Garavelli, Livia, Shieh, Joseph, Demir, Şenol, Arslan Ateş, Esra, Zenker, Martin, Rohanizadegan, Mersedeh, Rivera-Cruz, Greysha, Douzgou, Sofia, Lin, Angela E, Callewaert, Bert

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OP-104 Utilizing lactate dehydrogenase and aspartate transaminase as diagnostic biomarkers in GM2 gangliosidoses by Terzioğlu, Muhammet, Türkdoğan, Dilşad, Genç, Emine, Gümüş, Emel Yılmaz, Öztürk, Gülten, Demir, Şenol, Geçkinli, Bilgen Bilge, Yaya, Enver, Hişmi, Burcu, Kılavuz, Sebile

“…AimGM2 gangliosidoses, comprising Tay-Sachs disease, Sandhoff disease, and the AB variant, stem from mutations in genes encoding β-hexosaminidase subunits or…”
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Tracheobronchopathia osteochondroplastica： four cases by Tatar, Dursun, Senol, Gunes, Demir, Atike, Polat, Gulru

“…Tracheobronchopathia osteochondroplastica （TO） is a rare and benign disorder of unknown cause affecting the large airways. It is characterized by the presence…”
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II. meşrutiyet dönemi: Türk edebiyatı / hazırlayan, Prof. Dr. İsmail Çetişli, Prof. Dr. Nurullah Çetin, Prof. Dr. Abide Doğan, Doç. Dr. Alim Gür, Şenol Demir, Cengiz Karataş by Çetişli, İsmail, Çetin, Nurullah, Doğan, Abide, Gür, Alim, Demir, Şenol, Karataş, Cengiz

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First Patient Diagnosed as Feingold Syndrome Type 2 with Alport Syndrome and Review of the Current Literature by Demir, Şenol, Söylemez, Mehmet A, Arman, Ahmet, Ata, Pınar

“…IntroductionFeingold syndrome type 2 (FGLDS2) is an ultra-rare genetic disorder characterized by short stature, microcephaly, digital abnormalities, and…”
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A Second Family with Myhre Syndrome Caused by the Same Recurrent SMAD4 Pathogenic Variation (p.Arg496Cys) by Demir, Şenol, Alavanda, Ceren, Yeşil, Gözde, Aslanger, Ayça Dilruba, Ateş, Esra Arslan

“…IntroductionMyhre syndrome (MS; OMIM #139210) is a rare connective tissue disorder presenting with cardiovascular, respiratory, gastrointestinal, and skeletal…”
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