Search Results - "Arslan Ateş, Esra"

Two new cases with novel pathogenic variants reflecting the clinical diversity of Schaaf‐Yang syndrome by Alavanda, Ceren, Arslan Ateş, Esra, Yavaş Abalı, Zehra, Geçkinli, Bilgen Bilge, Turan, Serap, Arman, Ahmet

“…Schaaf‐Yang syndrome (SHFYNG) is a rare pleiotropic disorder, characterized by hypotonia, joint contractures, autism spectrum disorders (ASD), and…”
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Genetic and Clinical Characterization of Patients with Maturity-Onset of Diabetes of the Young (MODY): Identification of Novel Variations by Ateş, Esra Arslan, Üstay, Özlem, Polat, Hamza, Apaydın, Tuğçe, Elbasan, Onur, Yıldırım, Özlem, Güney, Ahmet İlter

“…Maturity-onset diabetes of the young (MODY) is a rare monogenic type of diabetes, and accounts for 2-5% of all diabetes cases. An early age of onset, a family…”
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Contribution of genotypes in Prothrombin and Factor V Leiden to COVID‐19 and disease severity in patients at high risk for hereditary thrombophilia by Kiraz, Aslıhan, Sezer, Ozlem, Alemdar, Adem, Canbek, Sezin, Duman, Nilgun, Bisgin, Atıl, Cora, Tulin, Ruhi, Hatice Ilgın, Ergoren, Mahmut Cerkez, Geçkinli, Bilgen Bilge, Sag, Sebnem Ozemri, Gözden, Hilmi Erdem, Oz, Ozlem, Altıntaş, Zuhal Mert, Yalcıntepe, Sinem, Keskin, Adem, Tak, Ayşegül Yabacı, Paskal, Şeyma Aktaş, Yürekli, Uğur Fahri, Demirtas, Mercan, Evren, Emine Unal, Hanta, Abdullah, Başdemirci, Müşerref, Suer, Kaya, Balta, Burhan, Kocak, Nadir, Karabulut, Halil Gürhan, Cobanogulları, Havva, Ateş, Esra Arslan, Bozdoğan, Sevcan Tuğ, Eker, Damla, Ekinci, Sadiye, Nergiz, Süleyman, Tuncalı, Timur, Yagbasan, Serap, Alavanda, Ceren, Kutlay, Nuket Yurur, Evren, Hakan, Erdoğan, Murat, Altıner, Sule, Sanlidag, Tamer, Gonen, Gizem Akıncı, Vicdan, Arzu, Eras, Nazan, Eker, Hatice Koçak, Balasar, Ozgür, Tuncel, Gulten, Dundar, Munis, Gurkan, Hakan, Temel, Sehime Gulsun

“…Thrombotic and microangiopathic effects have been reported in COVID‐19 patients. This study examined the contribution of the hereditary thrombophilia factors…”
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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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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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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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Biallelic Mutations in DNAJB11are Associated with Prenatal Polycystic Kidney Disease in a Turkish Family by Ateş, Esra Arslan, Turkyilmaz, Ayberk, Delil, Kenan, Alavanda, Ceren, Söylemez, Mehmet Ali, Geçkinli, Bilgen Bilge, Ata, Pinar, Arman, Ahmet

“…Polycystic kidney disease (PKD) is a life-threatening condition resulting in end-stage renal disease. Two major forms of PKD are defined according to the…”
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Analysis of ACE2 and TMPRSS2 coding variants as a risk factor for SARS‐CoV‐2 from 946 whole‐exome sequencing data in the Turkish population by Duman, Nilgun, Tuncel, Gulten, Bisgin, Atil, Bozdogan, Sevcan Tug, Sag, Sebnem Ozemri, Gul, Seref, Kiraz, Aslihan, Balta, Burhan, Erdogan, Murat, Uyanik, Bulent, Canbek, Sezin, Ata, Pinar, Geckinli, Bilgen Bilge, Arslan Ates, Esra, Alavanda, Ceren, Yesim Ozdemir, Sevda, Sezer, Ozlem, Ozgon, Gulay Oner, Gurkan, Hakan, Guler, Kubra, Boga, Ibrahim, Kaya, Niyazi, Alemdar, Adem, Sayan, Murat, Dundar, Munis, Ergoren, Mahmut Cerkez, Temel, Sehime Gulsun

“…Heterogeneity in symptoms associated with COVID‐19 in infected patients remains unclear. ACE2 and TMPRSS2 gene variants are considered possible risk factors…”
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BRCA Mutations and MicroRNA Expression Patterns in the Peripheral Blood of Breast Cancer Patients by Alavanda, Ceren, Dirimtekin, Esra, Mortoglou, Maria, Arslan Ates, Esra, Guney, Ahmet Ilter, Uysal-Onganer, Pinar

“…Breast cancer (BC) persists as the predominant malignancy globally, standing as the foremost cause of cancer-related mortality among women. Despite notable…”
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miR-34a-FOXP1 Loop in Ovarian Cancer by Dirimtekin, Esra, Mortoglou, Maria, Alavanda, Ceren, Benomar Yemlahi, Asmaa, Arslan Ates, Esra, Guney, Ilter, Uysal-Onganer, Pinar

“…Ovarian cancer (OC) is the main cause of gynecological cancer mortality in most developed countries. microRNA (miR) expression dysregulation has been…”
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When do we need to suspect maturity onset diabetes of the young in patients with type 2 diabetes mellitus? by Üstay, Özlem, Apaydın, Tuğçe, Elbasan, Onur, Polat, Hamza, Günhan, Gizem, Dinçer, Ceyda, Şeker, Lamia, Ateş, Esra Arslan, Yabacı, Ayşegül, Güney, Ahmet İlter, Yavuz, Dilek Gogas

“…Maturity onset diabetes of the young (MODY) patients have clinical heterogeneity as shown by many studies. Thus, often it is misdiagnosed to type 1 or type 2…”
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Dysgenesis and dysfunction of pancreas and pituitary due to FOXA2 gene defects by Kaygusuz, Sare Betul, Arslan Ates, Esra, Vignola, Maria Lillina, Volkan, Burcu, Geckinli, Bilgen Bilge, Turan, Serap, Bereket, Abdullah, Gaston-Massuet, Carles, Guran, Tulay

“…Developmental disorders of the pituitary gland leading to congenital hypopituitarism can either be isolated or associated with extra-pituitary abnormalities…”
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Pregnancy-associated plasma protein A gene polymorphism in pregnant women with preeclampsia and intrauterine growth restriction by Ozkan, Sultan, Sanhal, Cem Yasar, Yeniel, Ozgur, Arslan Ates, Esra, Ergenoglu, Mete, Bınbır, Birol, Onay, Huseyin, Ozkınay, Ferda, Sagol, Sermet

“…Abstract Preeclampsia (PE) and intrauterine growth restriction (IUGR) are still among the most commonly researched titles in perinatology. To shed light on…”
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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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Homozygosity for a novel INHA mutation in two male siblings with hypospadias, primary hypogonadism, and high-normal testicular volume by Arslan Ates, Esra, Eltan, Mehmet, Sahin, Bahadir, Gurpinar Tosun, Busra, Seven Menevse, Tuba, Geckinli, Bilgen Bilge, Greenfield, Andy, Turan, Serap, Bereket, Abdullah, Guran, Tulay

“…Background The human INHA gene encodes the inhibin subunit alpha protein, which is common to both inhibin A and B. The functional importance of inhibins in…”
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Multigene Panel Testing in Turkish Hereditary Cancer Syndrome Patients by ARSLAN ATES, Esra, TURKYILMAZ, Ayberk, ALAVANDA, Ceren, YILDIRIM, Ozlem, GUNEY, Ahmet Ilter

“…ObjectiveHereditary cancer syndromes (HCSs) are a heterogenous group of disorders caused by germline pathogenic variations in various genes that function in…”
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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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Meckel-Gruber Syndrome: Clinical and Molecular Genetic Profiles in Two Fetuses and Review of the Current Literature by Turkyilmaz, Ayberk, Geckinli, Bilgen Bilge, Alavanda, Ceren, Arslan Ates, Esra, Buyukbayrak, Esra Esim, Eren, Sirin Funda, Arman, Ahmet

“…Meckel-Gruber syndrome (MKS; OMIM No. 249000) is a rare, lethal disease characterized by occipital encephalocele, polycystic kidneys, and polydactyly. In this…”
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Adrenocortical carcinoma in atypical Beckwith‐Wiedemann syndrome due to loss of methylation at imprinting control region 2 by Eltan, Mehmet, Arslan Ates, Esra, Cerit, Kivilcim, Menevse, Tuba Seven, Kaygusuz, Sare Betul, Eker, Nursah, Bagci, Pelin, Ergelen, Rabia, Turan, Serap, Bereket, Abdullah, Guran, Tulay

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Low DHEAS Concentration in a Girl Presenting with Short Stature and Premature Pubarche: A Novel PAPSS2 Gene Mutation by Eltan, Mehmet, Yavas Abali, Zehra, Arslan Ates, Esra, Kirkgoz, Tarik, Kaygusuz, Sare Betul, Türkyılmaz, Ayberk, Bereket, Abdullah, Turan, Serap, Guran, Tulay

“…Dehydroepiandrosterone (DHEA) sulfotransferase (SULT2A1) converts DHEA to DHEA sulfate (DHEAS) which prevents bioactive androgen excess. This enzymatic…”
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