Search Results - "Percin, Ferda"

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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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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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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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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Identification of copy number variants in children and adolescents with autism spectrum disorder: a study from Turkey by Özaslan, Ahmet, Kayhan, Gülsüm, İşeri, Elvan, Ergün, Mehmet Ali, Güney, Esra, Perçin, Ferda Emriye

“…Background Copy number variants (CNVs) play a key role in the etiology of autism spectrum disorder (ASD). Therefore, recent guidelines recommend chromosomal…”
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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 by Duzenli, Tarik, Sezer, Abdullah, Percin, Ferda Emriye

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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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Identification of Three Novel FBN1 Mutations and Their Phenotypic Relationship of Marfan Syndrome by Kayhan, Gulsum, Ergun, Mehmet Ali, Ergun, Sezen Guntekin, Kula, Serdar, Percin, Ferda E

“…Marfan syndrome (MS), a connective tissue disorder that affects ocular, skeletal, and cardiovascular systems, is caused by heterozygous pathogenic variants in…”
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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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Investigation of Gene Expressions of Myeloma Cells in the Bone Marrow of Multiple Myeloma Patients by Transcriptome Analysis by 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

“…Multiple myeloma is a plasma cell dyscrasia characterized by transformation of B cells into malignant cells. Although there are data regarding the molecular…”
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A Turkish family with Nance-Horan syndrome due to a novel mutation by Tug, Esra, Dilek, Nihal F., Javadiyan, Shahrbanou, Burdon, Kathryn P., Percin, Ferda E.

“…Nance-Horan Syndrome (NHS) is a rare X-linked syndrome characterized by congenital cataract which leads to profound vision loss, characteristic dysmorphic…”
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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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Mutations in CKAP2L, the Human Homolog of the Mouse Radmis Gene, Cause Filippi Syndrome by 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

“…Filippi syndrome is a rare, presumably autosomal-recessive disorder characterized by microcephaly, pre- and postnatal growth failure, syndactyly, and…”
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Is cervical swab an efficient method for developing a new noninvasive prenatal diagnostic test for numerical and structural chromosome anomalies? by 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

“…Prenatal diagnosis is vital to obtain healthy generation for risky pregnancies. There have been several approaches, some of which are routinely applied in…”
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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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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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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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Lrp4 regulates initiation of ureteric budding and is crucial for kidney formation--a mouse model for Cenani-Lenz syndrome by Karner, Courtney M, Dietrich, Martin F, Johnson, Eric B, Kappesser, Natalie, Tennert, Christian, Percin, Ferda, Wollnik, Bernd, Carroll, Thomas J, Herz, Joachim

“…Development of the kidney is initiated when the ureteric bud (UB) branches from the Wolffian duct and invades the overlying metanephric mesenchyme (MM)…”
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Holoprosencephaly: A Rare Finding in Mosaic Trisomy 9 Syndrome by Mermer, Serdar, Ozek, Murat, Percin, Ferda, Karaoguz, Meral, Bayram, Merih

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