Search Results - "Percin, Ferda E."

RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome by Bögershausen, Nina, Tsai, I-Chun, Pohl, Esther, Kiper, Pelin Özlem Simsek, Beleggia, Filippo, Percin, E Ferda, Keupp, Katharina, Matchan, Angela, Milz, Esther, Alanay, Yasemin, Kayserili, Hülya, Liu, Yicheng, Banka, Siddharth, Kranz, Andrea, Zenker, Martin, Wieczorek, Dagmar, Elcioglu, Nursel, Prontera, Paolo, Lyonnet, Stanislas, Meitinger, Thomas, Stewart, A Francis, Donnai, Dian, Strom, Tim M, Boduroglu, Koray, Yigit, Gökhan, Li, Yun, Katsanis, Nicholas, Wollnik, Bernd

“…The genetic disorder Kabuki syndrome (KS) is characterized by developmental delay and congenital anomalies. Dominant mutations in the chromatin regulators…”
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Mutations Affecting the BHLHA9 DNA-Binding Domain Cause MSSD, Mesoaxial Synostotic Syndactyly with Phalangeal Reduction, Malik-Percin Type by Malik, Sajid, Percin, Ferda E., Bornholdt, Dorothea, Albrecht, Beate, Percesepe, Antonio, Koch, Manuela C., Landi, Antonio, Fritz, Barbara, Khan, Rizwan, Mumtaz, Sara, Akarsu, Nurten A., Grzeschik, Karl-Heinz

“…Mesoaxial synostotic syndactyly, Malik-Percin type (MSSD) (syndactyly type IX) is a rare autosomal-recessive nonsyndromic digit anomaly with only two affected…”
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LRP5- linked osteoporosis-pseudoglioma syndrome mimicking isolated microphthalmia by Ergun, Sezen Guntekin, Akay, Guvem Gumus, Ergun, Mehmet Ali, Perçin, E. Ferda

“…Abstract Microphthalmia is defined as the measurement of the total axial length of the eyeball to be below average of the two standard deviation according to…”
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Aetiological Evaluation of Oligodontia in a Three-Generation Family by Ergün, Sezen Güntekin, Tuncer, Burcu Baloş, Ergün, Mehmet Ali, Kolbaşı, Guyem, Orhan, Metin, Perçin, Ferda E

“…The aim of this study was to assess the genetic evaluation of a three-generation consanguineous family with isolated oligodontia. A 16-year-old male patient…”
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Clinical findings in cases with 9q deletion encompassing the 9q21.11q21.32 region by Tuğ, Esra, Ergün, M Ali, Perçin, E Ferda

“…Tuğ E, Ergün MA, Perçin EF. Clinical findings in cases with 9q deletion encompassing the 9q21.11q21.32 region. Turk J Pediatr 2018; 60: 94-98. We report on a…”
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Thiopurine methyltransferase polymorphisms and mercaptopurine tolerance in Turkish children with acute lymphoblastic leukemia by Albayrak, Meryem, Konyssova, Uljan, Kaya, Zuhre, Gursel, Turkiz, Guntekin, Sezen, Percin, E. Ferda, Kocak, Ulker

“…Purpose Thiopurine methyltransferase (TPMT) enzyme is involved in the metabolism of 6-mercaptopurine (6-MP), a key component of acute lymphoblastic leukemia…”
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Long-term follow-up and novel variant in Suleiman-El-Hattab syndrome: Expanding the genotypic and clinical spectrum of a rare neurodevelopmental disorder by Sezer, Abdullah, Kayhan, Gulsum, Percin, Ferda E.

“…Suleiman-El-Hattab syndrome (SULEHS, OMIM #618950) is an autosomal recessive multisystem developmental disorder characterized by distinctive facial appearance,…”
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MEFV gene mutations and its impact on the clinical course in ulcerative colitis patients by Yıldırım, Beytullah, Tuncer, Candan, Kan, Derya, Tunc, Bilge, Demirag, Mehmet Derya, Ferda Percın, E., Haznedaroglu, Seminur, Alagozlu, Hakan

“…Ulcerative colitis (UC) is an inflammatory disease of the colonic mucosa. The presence of gene responsible for FMF, MEFV, which frequently causes inflammation,…”
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Y chromosome azoospermia factor region microdeletions and recurrent pregnancy loss by Karaer, Abdullah, MD, Karaer, Kadri, MD, Ozaksit, Gulnur, MD, Ceylaner, Serdar, MD, Percin, E. Ferda, MD, PhD

“…Objective This study was undertaken to determine the prevalence of Y-chromosome microdeletions in couples with recurrent pregnancy loss (RPL) as compared with…”
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Expanding the phenotype and genotype in Thauvin‐Robinet‐Faivre syndrome: A new patient with a novel variant and additional clinical findings by Duzenli, Tarik, Sezer, Abdullah, Kayhan, Gulsum, Arslan, Ayse Tana, Percin, Ferda E.

“…Thauvin‐Robinet‐Faivre syndrome (TROFAS; OMIM #617107) is a rare autosomal recessive overgrowth syndrome characterized by generalized overgrowth, dysmorphic…”
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Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome by Brussel, Wim, Percin, E. Ferda, Celli, Jacopo, Balci, Sevim, Kerr, Bronwyn, van Beusekom, Ellen, Akarsu, Nurten, van Bokhoven, Hans, Kayserili, Hülya, Brunner, Han G, Skovby, Flemming

“…Robinow syndrome is a short-limbed dwarfism characterized by abnormal morphogenesis of the face and external genitalia, and vertebral segmentation. The…”
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A homozygous missense variant in the WRN gene segregating in a family with progressive pulmonary failure with recurrent spontaneous pneumothorax and interstitial lung disease by Sezer, Abdullah, Kayhan, Gulsum, Gursoy, Tugba Ramasli, Eyuboglu, Tugba Sismanlar, Percin, Ferda E.

“…Interstitial lung disease (ILD) is a condition affecting the lung parenchyma by inflammation and fibrosis and can be caused by various exposures, connective…”
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Human microphthalmia associated with mutations in the retinal homeobox gene CHX10 by Sarfarazi, Mansoor, McInnes, Roderick R, Ferda Percin, E, Ploder, Lynda A, Yu, Jessica J, Arici, Kemal, Jonathan Horsford, D, Rutherford, Adam, Bapat, Bharati, Cox, Diane W, Duncan, Alessandra M.V, Kalnins, Vitauts I, Kocak-Altintas, Aysegul, Sowden, Jane C, Traboulsi, Elias

“…Isolated human microphthalmia/anophthalmia, a cause of congenital blindness, is a clinically and genetically heterogeneous developmental disorder characterized…”
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A case of U2AF2-related developmental disorder: long-term follow-up and expansion of the phenotype by Mulayim, Muhammed Fatih, Demirbas, Mustafa Hakan, Percin, Ferda E, Arhan, Ebru, Kayhan, Gulsum

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Effects of microalgae chlorella species crude extracts on intestinal adaptation in experimental short bowel syndrome by Kerem, Mustafa, Salman, Bulent, Pasaoglu, Hatice, Bedirli, Abdulkadir, Alper, Murat, Katircioglu, Hikmet, Atici, Tahir, Percin, E Ferda, Ofluoglu, Ebru

“…AIM： To evaluate the effects of chlorella crude extract （CCE） on intestinal adaptation in rats subjected to short bowel syndrome （SBS）. METHODS： Wistar rats…”
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Rectal duplications accompanying rectovestibular fistula: Report of two cases by Pampal, Arzu, Ozbayoglu, Asli, Kaya, Cem, Pehlivan, Yildiz, Poyraz, Aylar, Ozen, I. Onur, Percin, Ferda E., Demirogullari, Billur

“…Rectal duplication (RD) cysts are rare congenital anomalies that can be diagnosed with the presence of another opening in the perineum. They seldom accompany…”
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A case with de novo inv dup del(8p) associated with dextrocardia and corpus callosum agenesis by Ergün, Mehmet A., Kula, Serdar, Karaer, Kadri, Perçin, E. Ferda

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Blood-derived human iPS cells generate optic vesicle-like structures with the capacity to form retinal laminae and develop synapses by Phillips, M Joseph, Wallace, Kyle A, Dickerson, Sarah J, Miller, Michael J, Verhoeven, Amelia D, Martin, Jessica M, Wright, Lynda S, Shen, Wei, Capowski, Elizabeth E, Percin, E Ferda, Perez, Enio T, Zhong, Xiufeng, Canto-Soler, Maria V, Gamm, David M

“…We sought to determine if human induced pluripotent stem cells (iPSCs) derived from blood could produce optic vesicle-like structures (OVs) with the capacity…”
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Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism by Reynolds, John J, Bicknell, Louise S, Carroll, Paula, Higgs, Martin R, Shaheen, Ranad, Murray, Jennie E, Papadopoulos, Dimitrios K, Leitch, Andrea, Murina, Olga, Tarnauskaitė, Žygimantė, Wessel, Sarah R, Zlatanou, Anastasia, Vernet, Audrey, von Kriegsheim, Alex, Mottram, Rachel M A, Logan, Clare V, Bye, Hannah, Li, Yun, Brean, Alexander, Maddirevula, Sateesh, Challis, Rachel C, Skouloudaki, Kassiani, Almoisheer, Agaadir, Alsaif, Hessa S, Amar, Ariella, Prescott, Natalie J, Bober, Michael B, Duker, Angela, Faqeih, Eissa, Seidahmed, Mohammed Zain, Al Tala, Saeed, Alswaid, Abdulrahman, Ahmed, Saleem, Al-Aama, Jumana Yousuf, Altmüller, Janine, Al Balwi, Mohammed, Brady, Angela F, Chessa, Luciana, Cox, Helen, Fischetto, Rita, Heller, Raoul, Henderson, Bertram D, Hobson, Emma, Nürnberg, Peter, Percin, E Ferda, Peron, Angela, Spaccini, Luigina, Quigley, Alan J, Thakur, Seema, Wise, Carol A, Yoon, Grace, Alnemer, Maha, Tomancak, Pavel, Yigit, Gökhan, Taylor, A Malcolm R, Reijns, Martin A M, Simpson, Michael A, Cortez, David, Alkuraya, Fowzan S, Mathew, Christopher G, Jackson, Andrew P, Stewart, Grant S

“…Grant Stewart, Andrew Jackson, Christopher Mathew, Fowzan Alkuraya and colleagues identify a novel replication fork protein, DONSON, which is important for…”
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Modeling Human Retinal Development with Patient‐Specific Induced Pluripotent Stem Cells Reveals Multiple Roles for Visual System Homeobox 2 by Phillips, M. Joseph, Perez, Enio T., Martin, Jessica M., Reshel, Samantha T., Wallace, Kyle A., Capowski, Elizabeth E., Singh, Ruchira, Wright, Lynda S., Clark, Eric M., Barney, Patrick M., Stewart, Ron, Dickerson, Sarah J., Miller, Michael J., Percin, E. Ferda, Thomson, James A., Gamm, David M.

“…Human induced pluripotent stem cells (hiPSCs) have been shown to differentiate along the retinal lineage in a manner that mimics normal mammalian development…”
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