Search Results - Altunoglu, Umut

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  1. 1
    A New Family with a Novel OTUD6B Mutation: Practicing Whole Exome Sequencing for Antenatal Diagnosis of Tetralogy of Fallot

    A New Family with a Novel OTUD6B Mutation: Practicing Whole Exome Sequencing for Antenatal Diagnosis of Tetralogy of Fallot by Börklü, Esra, Altunoğlu, Umut, Eraslan, Serpil, Kayserili, Hülya

    Published 2022
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  2. 2
    A classical phenotype of Duchenne muscular dystrophy in a girl with X; autosome translocation

    A classical phenotype of Duchenne muscular dystrophy in a girl with X; autosome translocation by Uzunhan, Tuğce Aksu, Altunoğlu, Umut, Yıldız, Edibe Pembegul, Aydınlı, Nur

    Published 2014
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  3. 3
    Schinzel-Giedion Syndrome with Congenital Megacalycosis in a Turkish Patient: Report of SETBP1 Mutation and Literature Review of the Clinical Features

    Schinzel-Giedion Syndrome with Congenital Megacalycosis in a Turkish Patient: Report of SETBP1 Mutation and Literature Review of the Clinical Features by Bulut, Ozgul, Ince, Zeynep, Altunoglu, Umut, Yildirim, Sukran, Coban, Asuman

    Published 2017
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  4. 4
    Pallister-Killian syndrome: clinical, cytogenetic and molecular findings in 15 cases

    Pallister-Killian syndrome: clinical, cytogenetic and molecular findings in 15 cases by Karaman, Birsen, Kayserili, Hülya, Ghanbari, Asadollah, Uyguner, Zehra Oya, Toksoy, Güven, Altunoglu, Umut, Basaran, Seher

    Published 2018
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  5. 5
    Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSD

    Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSD by Akcan, Neşe, Uyguner, Oya, Baş, Firdevs, Altunoğlu, Umut, Toksoy, Güven, Karaman, Birsen, Avcı, Şahin, Yavaş Abalı, Zehra, Poyrazoğlu, Şükran, Aghayev, Agharza, Karaman, Volkan, Bundak, Rüveyde, Başaran, Seher, Darendeliler, Feyza

    Published 2022
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  6. 6
    A Rare Cause of Congenital Adrenal Hyperplasia: Clinical and Genetic Findings and Follow-up Characteristics of Six Patients with 17-Hydroxylase Deficiency Including Two Novel Mutations

    A Rare Cause of Congenital Adrenal Hyperplasia: Clinical and Genetic Findings and Follow-up Characteristics of Six Patients with 17-Hydroxylase Deficiency Including Two Novel Mutat... by Kardelen, Aslı Derya, Toksoy, Güven, Baş, Firdevs, Yavaş Abalı, Zehra, Gençay, Genco, Poyrazoğlu, Şükran, Bundak, Rüveyde, Altunoğlu, Umut, Avcı, Şahin, Najaflı, Adam, Uyguner, Oya, Karaman, Birsen, Başaran, Seher, Darendeliler, Feyza

    Published 2018
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  7. 7
    A loss-of-function NUAK2 mutation in humans causes anencephaly due to impaired Hippo-YAP signaling

    A loss-of-function NUAK2 mutation in humans causes anencephaly due to impaired Hippo-YAP signaling by Bonnard, Carine, Navaratnam, Naveenan, Ghosh, Kakaly, Chan, Puck Wee, Tan, Thong Teck, Pomp, Oz, Ng, Alvin Yu Jin, Tohari, Sumanty, Changede, Rishita, Carling, David, Venkatesh, Byrappa, Altunoglu, Umut, Kayserili, Hülya, Reversade, Bruno

    Published 2020
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  8. 8
    Mutations in CDK5RAP2 cause Seckel syndrome

    Mutations in CDK5RAP2 cause Seckel syndrome by Yigit, Gökhan, Brown, Karen E, Kayserili, Hülya, Pohl, Esther, Caliebe, Almuth, Zahnleiter, Diana, Rosser, Elisabeth, Bögershausen, Nina, Uyguner, Zehra Oya, Altunoglu, Umut, Nürnberg, Gudrun, Nürnberg, Peter, Rauch, Anita, Li, Yun, Thiel, Christian Thomas, Wollnik, Bernd

    Published 2015
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  9. 9
    Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome

    Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome by Atik, Tahir, Koparir, Asuman, Bademci, Guney, Foster, Joseph, Altunoglu, Umut, Mutlu, Gül Yesiltepe, Bowdin, Sarah, Elcioglu, Nursel, Tayfun, Gulsen A., Atik, Sevinc Sahin, Ozen, Mustafa, Ozkinay, Ferda, Alanay, Yasemin, Kayserili, Hulya, Thiel, Steffen, Tekin, Mustafa

    Published 2015
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  10. 10
    Clinical and Molecular Characterization of Fanconi Anemia Patients in Turkey

    Clinical and Molecular Characterization of Fanconi Anemia Patients in Turkey by Toksoy, Güven, Uludağ Alkaya, Dilek, Bagirova, Gülendam, Avcı, Şahin, Aghayev, Agharza, Günes, Nilay, Altunoğlu, Umut, Alanay, Yasemin, Başaran, Seher, Berkay, Ezgi G., Karaman, Birsen, Celkan, Tiraje T., Apak, Hilmi, Kayserili, Hülya, Tüysüz, Beyhan, Uyguner, Zehra O.

    Published 2020
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  11. 11
    Neurodevelopmental Defects: A Micropatterned Human‐Specific Neuroepithelial Tissue for Modeling Gene and Drug‐Induced Neurodevelopmental Defects (Adv. Sci. 5/2021)

    Neurodevelopmental Defects: A Micropatterned Human‐Specific Neuroepithelial Tissue for Modeling Gene and Drug‐Induced Neurodevelopmental Defects (Adv. Sci. 5/2021) by Sahni, Geetika, Chang, Shu‐Yung, Meng, Jeremy Teo Choon, Tan, Jerome Zu Yao, Fatien, Jean Jacques Clement, Bonnard, Carine, Utami, Kagistia Hana, Chan, Puck Wee, Tan, Thong Teck, Altunoglu, Umut, Kayserili, Hülya, Pouladi, Mahmoud, Reversade, Bruno, Toh, Yi‐Chin

    Published 2021
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  12. 12
    A Micropatterned Human‐Specific Neuroepithelial Tissue for Modeling Gene and Drug‐Induced Neurodevelopmental Defects

    A Micropatterned Human‐Specific Neuroepithelial Tissue for Modeling Gene and Drug‐Induced Neurodevelopmental Defects by Sahni, Geetika, Chang, Shu‐Yung, Meng, Jeremy Teo Choon, Tan, Jerome Zu Yao, Fatien, Jean Jacques Clement, Bonnard, Carine, Utami, Kagistia Hana, Chan, Puck Wee, Tan, Thong Teck, Altunoglu, Umut, Kayserili, Hülya, Pouladi, Mahmoud, Reversade, Bruno, Toh, Yi‐Chin

    Published 2021
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  13. 13
    A Micropatterned Human‐Specific Neuroepithelial Tissue for Modeling Gene and Drug‐Induced Neurodevelopmental Defects

    A Micropatterned Human‐Specific Neuroepithelial Tissue for Modeling Gene and Drug‐Induced Neurodevelopmental Defects by Sahni, Geetika, Chang, Shu‐Yung, Teo, Jeremy Choon Meng, Tan, Jerome Zu Yao, Fatien, Jean Jacques Clement, Bonnard, Carine, Utami, Kagistia Hana, Chan, Puck Wee, Tan, Thong Teck, Altunoglu, Umut, Kayserili, Hülya, Pouladi, Mahmoud, Reversade, Bruno, Toh, Yi‐Chin

    Published 2021
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  14. 14
    IL11 is elevated in systemic sclerosis and IL11-dependent ERK signalling underlies TGFβ-mediated activation of dermal fibroblasts

    IL11 is elevated in systemic sclerosis and IL11-dependent ERK signalling underlies TGFβ-mediated activation of dermal fibroblasts by Adami, Eleonora, Viswanathan, Sivakumar, Widjaja, Anissa A, Ng, Benjamin, Chothani, Sonia, Zhihao, Nevin, Tan, Jessie, Lio, Pei Min, George, Benjamin L, Altunoglu, Umut, Ghosh, Kakaly, Paleja, Bhairav S, Schafer, Sebastian, Reversade, Bruno, Albani, Salvatore, Ling, Andrea Low Hsiu, O'Reilly, Steven, Cook, Stuart A

    Published 2021
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  15. 15
    MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome)

    MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome) by Rad, Abolfazl, Altunoglu, Umut, Miller, Rebecca, Maroofian, Reza, James, Kiely N, Çağlayan, Ahmet Okay, Najafi, Maryam, Stanley, Valentina, Boustany, Rose-Mary, Yeşil, Gözde, Sahebzamani, Afsaneh, Ercan-Sencicek, Gülhan, Saeidi, Kolsoum, Wu, Kaman, Bauer, Peter, Bakey, Zeineb, Gleeson, Joseph G, Hauser, Natalie, Gunel, Murat, Kayserili, Hulya, Schmidts, Miriam

    Published 2019
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  16. 16
    A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome

    A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome by Oud, Machteld M., Bonnard, Carine, Mans, Dorus A., Altunoglu, Umut, Tohari, Sumanty, Ng, Alvin Yu Jin, Eskin, Ascia, Lee, Hane, Rupar, C. Anthony, de Wagenaar, Nathalie P., Wu, Ka Man, Lahiry, Piya, Pazour, Gregory J., Nelson, Stanley F., Hegele, Robert A., Roepman, Ronald, Kayserili, Hülya, Venkatesh, Byrappa, Siu, Victoria M., Reversade, Bruno, Arts, Heleen H.

    Published 2016
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  17. 17
    Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes

    Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes by Roosing, Susanne, Romani, Marta, Isrie, Mala, Rosti, Rasim Ozgur, Micalizzi, Alessia, Musaev, Damir, Mazza, Tommaso, Al-gazali, Lihadh, Altunoglu, Umut, Boltshauser, Eugen, D'Arrigo, Stefano, De Keersmaecker, Bart, Kayserili, Hülya, Brandenberger, Sarah, Kraoua, Ichraf, Mark, Paul R, McKanna, Trudy, Van Keirsbilck, Joachim, Moerman, Philippe, Poretti, Andrea, Puri, Ratna, Van Esch, Hilde, Gleeson, Joseph G, Valente, Enza Maria

    Published 2016
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  18. 18
    Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey

    Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey by Akinci, Baris, Onay, Huseyin, Demir, Tevfik, Ozen, Samim, Kayserili, Hulya, Akinci, Gulcin, Nur, Banu, Tuysuz, Beyhan, Nuri Ozbek, Mehmet, Gungor, Adem, Yildirim Simsir, Ilgin, Altay, Canan, Demir, Leyla, Simsek, Enver, Atmaca, Murat, Topaloglu, Haluk, Bilen, Habib, Atmaca, Hulusi, Atik, Tahir, Cavdar, Umit, Altunoglu, Umut, Aslanger, Ayca, Mihci, Ercan, Secil, Mustafa, Saygili, Fusun, Comlekci, Abdurrahman, Garg, Abhimanyu

    Published 2016
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  19. 19
    Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay

    Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay by Lee, Sangmoon, Chen, Dillon Y., Zaki, Maha S., Maroofian, Reza, Houlden, Henry, Di Donato, Nataliya, Abdin, Dalia, Morsy, Heba, Mirzaa, Ghayda M., Dobyns, William B., McEvoy-Venneri, Jennifer, Stanley, Valentina, James, Kiely N., Mancini, Grazia M.S., Schot, Rachel, Kalayci, Tugba, Altunoglu, Umut, Karimiani, Ehsan Ghayoor, Brick, Lauren, Kozenko, Mariya, Jamshidi, Yalda, Manzini, M. Chiara, Beiraghi Toosi, Mehran, Gleeson, Joseph G.

    Published 2019
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  20. 20
    Mutations in WNT1 Cause Different Forms of Bone Fragility

    Mutations in WNT1 Cause Different Forms of Bone Fragility by Keupp, Katharina, Beleggia, Filippo, Kayserili, Hülya, Barnes, Aileen M., Steiner, Magdalena, Semler, Oliver, Fischer, Björn, Yigit, Gökhan, Janda, Claudia Y., Becker, Jutta, Breer, Stefan, Altunoglu, Umut, Grünhagen, Johannes, Krawitz, Peter, Hecht, Jochen, Schinke, Thorsten, Makareeva, Elena, Lausch, Ekkehart, Cankaya, Tufan, Caparrós-Martín, José A., Lapunzina, Pablo, Temtamy, Samia, Aglan, Mona, Zabel, Bernhard, Eysel, Peer, Koerber, Friederike, Leikin, Sergey, Garcia, K. Christopher, Netzer, Christian, Schönau, Eckhard, Ruiz-Perez, Victor L., Mundlos, Stefan, Amling, Michael, Kornak, Uwe, Marini, Joan, Wollnik, Bernd

    Published 2013
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