Expanding the phenotype and genotype in Thauvin‐Robinet‐Faivre syndrome: A new patient with a novel variant and additional clinical findings
Duzenli, Tarik, Sezer, Abdullah, Kayhan, Gulsum, Arslan, Ayse Tana, Percin, Ferda E.
Published in American journal of medical genetics. Part A (01.08.2023)
Published in American journal of medical genetics. Part A (01.08.2023)
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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
Sezer, Abdullah, Kayhan, Gulsum, Gursoy, Tugba Ramasli, Eyuboglu, Tugba Sismanlar, Percin, Ferda E.
Published in American journal of medical genetics. Part A (01.01.2023)
Published in American journal of medical genetics. Part A (01.01.2023)
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Letter to the Editor regarding “New cases of recently described Thauvin‐Robinet‐Faivre syndrome with a novel homozygous FIBP gene variant” by Kılıç and Koşukçu, “An investigation of the etiology and follow‐up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 variant” by Yüksel Ülker et al. and “Expanding the phenotype and genotype in Thauvin‐Robinet‐Faivre syndrome: A new patient with a novel variant and additional clinical findings” by Duzenli et al
Duzenli, Tarik, Sezer, Abdullah, Percin, Ferda Emriye
Published in American journal of medical genetics. Part A (01.04.2024)
Published in American journal of medical genetics. Part A (01.04.2024)
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RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome
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
Published in The Journal of clinical investigation (01.09.2015)
Published in The Journal of clinical investigation (01.09.2015)
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Mutations Affecting the BHLHA9 DNA-Binding Domain Cause MSSD, Mesoaxial Synostotic Syndactyly with Phalangeal Reduction, Malik-Percin Type
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
Published in American journal of human genetics (04.12.2014)
Published in American journal of human genetics (04.12.2014)
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Influence of Folate-Related Gene Polymorphisms on High-Dose Methotrexate-Related Toxicity and Prognosis in Turkish Children with Acute Lymphoblastic Leukemia
Yazıcıoğlu, Burcu, Kaya, Zühre, Güntekin Ergun, Sezen, Perçin, Ferda, Koçak, Ülker, Yenicesu, İdil, Gürsel, Türkiz
Published in Turkish journal of haematology (01.06.2017)
Published in Turkish journal of haematology (01.06.2017)
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Investigation of Gene Expressions of Myeloma Cells in the Bone Marrow of Multiple Myeloma Patients by Transcriptome Analysis
Sarıman, Melda, Abacı, Neslihan, Sırma Ekmekçi, Sema, Çakiris, Aris, Perçin Paçal, Ferda, Üstek, Duran, Ayer, Mesut, Yenerel, Mustafa Nuri, Beşışık, Sevgi, Çefle, Kıvanç, Palandüz, Şükrü, Öztürk, Şükrü
Published in Balkan medical journal (01.01.2019)
Published in Balkan medical journal (01.01.2019)
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A Turkish family with Nance-Horan syndrome due to a novel mutation
Tug, Esra, Dilek, Nihal F., Javadiyan, Shahrbanou, Burdon, Kathryn P., Percin, Ferda E.
Published in Gene (01.08.2013)
Published in Gene (01.08.2013)
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Mutations in CKAP2L, the Human Homolog of the Mouse Radmis Gene, Cause Filippi Syndrome
Hussain, Muhammad Sajid, Battaglia, Agatino, Szczepanski, Sandra, Kaygusuz, Emrah, Toliat, Mohammad Reza, Sakakibara, Shin-ichi, Altmüller, Janine, Thiele, Holger, Nürnberg, Gudrun, Moosa, Shahida, Yigit, Gökhan, Beleggia, Filippo, Tinschert, Sigrid, Clayton-Smith, Jill, Vasudevan, Pradeep, Urquhart, Jill E., Donnai, Dian, Fryer, Alan, Percin, Ferda, Brancati, Francesco, Dobbie, Angus, Śmigiel, Robert, Gillessen-Kaesbach, Gabriele, Wollnik, Bernd, Noegel, Angelika Anna, Newman, William G., Nürnberg, Peter
Published in American journal of human genetics (06.11.2014)
Published in American journal of human genetics (06.11.2014)
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Is cervical swab an efficient method for developing a new noninvasive prenatal diagnostic test for numerical and structural chromosome anomalies?
Yurtcu, Erkan, Karçaaltıncaba, Deniz, Kazan, Hasan Hüseyin, Özdemir, Halis, Yirmibeş Karaoğuz, Meral, Çalış, Pinar, Kayhan, Gülsüm, Güntekin Ergün, Sezen, Perçin, Ferda, Bayram, Merih, İlhan, Mustafa Necmi, Bilgili, Gamze, Kaymak, Tuğrul, Ergün, Mehmet Ali
Published in Turkish journal of medical sciences (28.06.2021)
Published in Turkish journal of medical sciences (28.06.2021)
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Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism
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
Published in Nature genetics (01.04.2017)
Published in Nature genetics (01.04.2017)
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Thiopurine methyltransferase polymorphisms and mercaptopurine tolerance in Turkish children with acute lymphoblastic leukemia
Albayrak, Meryem, Konyssova, Uljan, Kaya, Zuhre, Gursel, Turkiz, Guntekin, Sezen, Percin, E. Ferda, Kocak, Ulker
Published in Cancer chemotherapy and pharmacology (01.11.2011)
Published in Cancer chemotherapy and pharmacology (01.11.2011)
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