Search Results - "Tüysüz, Beyhan"

Early Diagnostic Signs and the Natural History of Typical Findings in Cohen Syndrome by Güneş, Nilay, Alkaya, Dilek Uludağ, Demirbilek, Veysi, Yalçınkaya, Cengiz, Tüysüz, Beyhan

“…To describe the clinical presentation and long-term clinical features of a molecularly confirmed cohort with Cohen syndrome. Twelve patients with Cohen…”
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The molecular spectrum of Turkish osteopetrosis and related osteoclast disorders with natural history, including a candidate gene, CCDC120 by Tüysüz, Beyhan, Usluer, Esra, Uludağ Alkaya, Dilek, Ocak, Süheyla, Saygılı, Seha, Şeker, Ali, Apak, Hilmi

“…Osteopetrosis and related osteoclastic disorders are a heterogeneous group of inherited diseases characterized by increased bone density. The aim of this study…”
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Expanding the clinical phenotype of RASopathies in 38 Turkish patients, including the rare LZTR1, RAF1, RIT1 variants, and large deletion in NF1 by Uludağ Alkaya, Dilek, Lissewski, Christina, Yeşil, Gözde, Zenker, Martin, Tüysüz, Beyhan

“…RASopathies are a group of disorders caused by pathogenic variants in the genes encoding Ras/mitogen‐activated protein kinase pathway and share overlapping…”
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Investigation of genetic and phenotypic heterogeneity in 37 Turkish patients with Kabuki and Kabuki‐like phenotype by Usluer, Esra, Sayın, Gözde Yeşil, Güneş, Nilay, Kasap, Buşra, Tüysüz, Beyhan

“…Kabuki syndrome (KS) is a rare disorder characterized by distinct face, persistent fingertip pads, and intellectual disability (ID) caused by mutation in KMT2D…”
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Long-Term Follow-Up Outcomes of 19 Patients with Osteogenesis Imperfecta Type XI and Bruck Syndrome Type I Caused by FKBP10 Variants by Yüksel Ülker, Aylin, Uludağ Alkaya, Dilek, Elkanova, Leyla, Şeker, Ali, Akpınar, Evren, Akarsu, Nurten Ayşe, Uyguner, Zehra Oya, Tüysüz, Beyhan

“…Osteogenesis imperfecta type XI (OI-XI) and Bruck syndrome type I (BS1) are two rare disorders caused by biallelic variants in the FKBP10 , characterized by…”
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Natural history of clinical features in two brothers with acromesomelic dysplasia related to PRKG2 by Mollaoğlu, Ezgi, Uludağ Alkaya, Dilek, Yıldız, Ceren Ayça, Kasap, Buşra, Tüysüz, Beyhan

“…Acromesomelic dysplasias (AMD) are a group of skeletal dysplasia characterized by shortening of the middle and distal segments of the limbs. Recently,…”
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Resolution of sclerotic lesions of dysosteosclerosis due to biallelic SLC29A3 variant in a Turkish girl by Uludağ Alkaya, Dilek, Akpınar, Evren, Bilguvar, Kaya, Tüysüz, Beyhan

“…Dysosteosclerosis is a group of sclerosing bone dysplasia characterized by short stature, increased bone fragility, osteosclerosis, and platyspondyly. It is a…”
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IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans by Bakey, Zeineb, Cabrera, Oscar A, Hoefele, Julia, Antony, Dinu, Wu, Kaman, Stuck, Michael W, Micha, Dimitra, Eguether, Thibaut, Smith, Abigail O, van der Wel, Nicole N, Wagner, Matias, Strittmatter, Lara, Beales, Philip L, Jonassen, Julie A, Thiffault, Isabelle, Cadieux-Dion, Maxime, Boyes, Laura, Sharif, Saba, Tüysüz, Beyhan, Dunstheimer, Desiree, Niessen, Hans W M, Devine, William, Lo, Cecilia W, Mitchison, Hannah M, Schmidts, Miriam, Pazour, Gregory J

“…Motile and non-motile cilia play critical roles in mammalian development and health. These organelles are composed of a 1000 or more unique proteins, but their…”
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Investigation of (epi)genotype causes and follow‐up manifestations in the patients with classical and atypical phenotype of Beckwith‐Wiedemann spectrum by Tüysüz, Beyhan, Güneş, Nilay, Geyik, Filiz, Yeşil, Gözde, Celkan, Tiraje, Vural, Mehmet

“…Beckwith‐Wiedemann syndrome (BWS) is a genomic imprinting disorder, characterized by macroglossia, abdominal wall defects, lateralized overgrowth, and…”
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SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects by Dubail, Johanne, Huber, Céline, Chantepie, Sandrine, Sonntag, Stephan, Tüysüz, Beyhan, Mihci, Ercan, Gordon, Christopher T., Steichen-Gersdorf, Elisabeth, Amiel, Jeanne, Nur, Banu, Stolte-Dijkstra, Irene, van Eerde, Albertien M., van Gassen, Koen L., Breugem, Corstiaan C., Stegmann, Alexander, Lekszas, Caroline, Maroofian, Reza, Karimiani, Ehsan Ghayoor, Bruneel, Arnaud, Seta, Nathalie, Munnich, Arnold, Papy-Garcia, Dulce, De La Dure-Molla, Muriel, Cormier-Daire, Valérie

“…Skeletal dysplasia with multiple dislocations are severe disorders characterized by dislocations of large joints and short stature. The majority of them have…”
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Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants by Tüysüz, Beyhan, Kasap, Büşra, Sarıtaş, Merve, Alkaya, Dilek Uludağ, Bozlak, Serdar, Kıykım, Ayça, Durmaz, Asude, Yıldırım, Timur, Akpınar, Evren, Apak, Hilmi, Vural, Mehmet

“…Metaphyseal chondrodysplasias are a heterogeneous group of diseases characterized by short and bowed long bones and metaphyseal abnormality. The aim of this…”
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Mutation spectrum and pivotal features for differential diagnosis of Mucopolysaccharidosis IVA patients with severe and attenuated phenotype by Tüysüz, Beyhan, Alkaya, Dilek Uludağ, Toksoy, Güven, Güneş, Nilay, Yıldırım, Timur, Bayhan, İlhan Avni, Uyguner, Zehra Oya

“…Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disease caused by biallelic mutations in GALNS gene and characterized by progressive skeletal…”
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Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum by Taylan, Fulya, Costantini, Alice, Coles, Nicole, Pekkinen, Minna, Héon, Elise, Şıklar, Zeynep, Berberoğlu, Merih, Kämpe, Anders, Kıykım, Ertuğrul, Grigelioniene, Giedre, Tüysüz, Beyhan, Mäkitie, Outi

“…ABSTRACT Spondyloocular syndrome is an autosomal‐recessive disorder with spinal compression fractures, osteoporosis, and cataract. Mutations in XYLT2, encoding…”
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Gillessen‐Kaesbach‐Nishimura syndrome in two fetuses from Turkey by Kaymak, Didem, Alpay, Verda, Davutoğlu, Ebru Alıcı, Elçi, Oguzhan, Yiğin, Aysel Kalaycı, Tüysüz, Beyhan, Madazlı, Riza

“…Gillessen‐Kaesbach‐Nishimura syndrome (GIKANIS) is a congenital disease of glycosylation (CDG) linked to the ALG9 gene. GIKANIS is a lethal disorder…”
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Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations by Lifton, Richard P, State, Matthew W, Günel, Murat, Bilgüvar, Kaya, Öztürk, Ali Kemal, Louvi, Angeliki, Kwan, Kenneth Y, Choi, Murim, Tatl, Burak, Yaln zo lu, Dilek, Tüysüz, Beyhan, Ça layan, Ahmet Okay, Gökben, Sarenur, Kaymakçalan, Hande, Barak, Tanyeri, Bak rc o lu, Mehmet, Yasuno, Katsuhito, Ho, Winson, Sanders, Stephan, Zhu, Ying, Y lmaz, Sanem, Dinçer, Alp, Johnson, Michele H, Bronen, Richard A, Koçer, Naci, Per, Hüseyin, Mane, Shrikant, Pamir, Mehmet Necmettin, Yalç nkaya, Cengiz, Kumanda, Sefer, Topçu, Meral, Özmen, Meral, Šestan, Nenad

“…The development of the human cerebral cortex is an orchestrated process involving the generation of neural progenitors in the periventricular germinal zones,…”
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Specific early signs and long-term follow-up findings of Progressive Pseudorheumatoid Dysplasia (PPRD) in the Turkish cohort by Uludağ Alkaya, Dilek, Kasapçopur, Özgür, Bursalı, Ayşegül, Adrovic, Amra, Demir, Bilal, Aykut, Ayça, Tüysüz, Beyhan

“…Progressive pseudorheumatoid dysplasia (PPRD) is a spondyloepiphyseal dysplasia caused by biallelic variants in CCN6. This study aimed to describe the early…”
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Long‐term follow‐up findings in a Turkish girl with osteogenesis imperfecta type XX caused by a homozygous MESD variant by Uludağ Alkaya, Dilek, Uyguner, Zehra Oya, Güneş, Nilay, Tüysüz, Beyhan

“…Osteogenesis imperfecta (OI) is a heterogeneous group of disorders with bone fragility. In 2019, homozygous pathogenic variants in MESD were described for the…”
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Osteogenesis imperfecta in 140 Turkish families: Molecular spectrum and, comparison of long-term clinical outcome of those with COL1A1/A2 and biallelic variants by Tüysüz, Beyhan, Elkanova, Leyla, Uludağ Alkaya, Dilek, Güleç, Çağrı, Toksoy, Güven, Güneş, Nilay, Yazan, Hakan, Bayhan, A. Ilhan, Yıldırım, Timur, Yeşil, Gözde, Uyguner, Z. Oya

“…Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous group of diseases characterized by increased bone fragility and deformities…”
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Neurofibromatosis type 1: Expanded variant spectrum with multiplex ligation‐dependent probe amplification and genotype–phenotype correlation in 138 Turkish patients by Güneş, Nilay, Yeşil, Gözde, Geyik, Filiz, Kasap, Büşra, Celkan, Tiraje, Kebudi, Rejin, Tüysüz, Beyhan

“…Objective To investigate the variant spectrum and genotype–phenotype correlations in a Turkish cohort with Neurofibromatosis Type‐1 (NF1). Materials and…”
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Mutations in the prostaglandin transporter encoding gene SLCO2A1 Cause primary hypertrophic osteoarthropathy and isolated digital clubbing by Seifert, Wenke, Kühnisch, Jirko, Tüysüz, Beyhan, Specker, Christof, Brouwers, Ad, Horn, Denise

“…Digital clubbing is usually secondary to different acquired diseases. Primary hypertrophic osteoarthropathy (PHO) is a rare hereditary disorder with variable…”
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