Search Results - "Perçin, Ferda"

A de novo heterozygous HOXA11 variant in a patient with mesomelic dysplasia with urogenital abnormalities by Sezer, Abdullah, Perçin, Ferda Emriye, Kazan, Hasan Huseyin, Kayhan, Gulsum, Akturk, Mujde

“…Mesomelic dysplasias are a genetically and clinically heterogeneous group of diseases with more than 10 types defined. This article presents an 18‐year‐old…”
Get full text

Influence of Folate-Related Gene Polymorphisms on High-Dose Methotrexate-Related Toxicity and Prognosis in Turkish Children with Acute Lymphoblastic Leukemia by Yazıcıoğlu, Burcu, Kaya, Zühre, Güntekin Ergun, Sezen, Perçin, Ferda, Koçak, Ülker, Yenicesu, İdil, Gürsel, Türkiz

“…High-dose methotrexate (HD-MTX) is widely used in the consolidation phase of childhood acute lymphoblastic leukemia (ALL), but the roles that polymorphisms in…”
Get full text

Chromosomal-array analysis reveals partial 11q duplication and partial 12p deletion in a mildly affected case by Tuğ, Esra, Yirmibeş Karaoğuz, Meral, Kayhan, Gülsüm, Ergün, Mehmet Ali, Perçin, Ferda E.

“…Partial trisomy 11q is a rare syndrome and may be observed due to an intra‐chromosomal duplication or an inter‐chromosomal insertion. The deletions of the…”
Get full text

HACE1 deficiency leads to structural and functional neurodevelopmental defects by Nagy, Vanja, Hollstein, Ronja, Pai, Tsung-Pin, Herde, Michel K, Buphamalai, Pisanu, Moeseneder, Paul, Lenartowicz, Ewelina, Kavirayani, Anoop, Korenke, Georg Christoph, Kozieradzki, Ivona, Nitsch, Roberto, Cicvaric, Ana, Monje Quiroga, Francisco J, Deardorff, Matthew A, Bedoukian, Emma C, Li, Yun, Yigit, Gökhan, Menche, Jörg, Perçin, E Ferda, Wollnik, Bernd, Henneberger, Christian, Kaiser, Frank J, Penninger, Josef M

“…We aim to characterize the causality and molecular and functional underpinnings of deficiency in a mouse model of a recessive neurodevelopmental syndrome…”
Get full text

Microdeletion and mutation analysis of the SHOX gene in patients with idiopathic short stature with FISH and sequencing by Bakır, Abdullatif, Yirmibeş Karaoğuz, Meral, Perçin, Ferda Emriye, Tuğ, Esra, Cinaz, Peyami, Ergün, Mehmet Ali

“…Background/aim: The aim of this study was to investigate the prevalence of the microdeletions and mutations of the SHOX gene in children with idiopathic short…”
Get full text

Thrombophilic Status of Extracted Fetal Tissues of Spontaneously Aborted Embroys by Erdem,Ahmet, Balabanlı,Kanuni Barbaros, Pala,Elif, Yirmibeş Karaoğuz,Meral, Perçin,Emriye Ferda

“…Objective:The reports about Factor V (FV) Leiden, Factor II (FII) G20210A and Methylenetetrahydrofolate reductase (MTHFR) C677T gene mutations of parents and…”
Get full text

Diagnosis of the Genomic Imprinting Diseases by the Usage of Conventional and Molecular Analyses by Öztürk Kaymak,Ayşegül, Gücüyener,Kıvılcım, Yirmibeş Karaoğuz,Meral, Perçin,Emriye Ferda

“…Objective: Prader-Willi (PWS) and Angelman syndromes (AS) are genomic imprinting diseases with intellectual disability. In approximately 70 % of the cases,…”
Get full text

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,…”
Get full text

Molecular Karyotyping in Anorectal Malformations: Could DGCR6 Gene Haploinsufficiency Cause Anal Atresia in 22q11 Deletion Syndrome? by Çubuk, Pelin Özyavuz, Kayhan, Gülsüm, Perçin, Ferda Emriye

Get full text

Distribution, diversity, habitat preferences, and interactions with environmental variables of ostracod (Crustacean) species living in Gulf of Gemlik (The Sea of Marmara, Turkey) by Perçin Paçal, Ferda, Altınsaçlı, Selçuk, Arısal, Saltuk Buğra, Balkıs, Hüsamettin

“…The Gulf of Gemlik, located in the southeast of the Sea of Marmara, is facing a pollution threat due to intense of industrial facilities and urbanization with…”
Get full text

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…”
Get full text

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…”
Get full text

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

Get full text

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…”
Get full text

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

Get full text

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…”
Get full text

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…”
Get full text

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…”
Get more information

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…”
Get more information

Ecological interactions and the distribution, abundance, and diversity of ostracod species associated with some coastal brackish karstic springs in southwest Turkey by Altınsaçlı, Selçuk, Perçin-Paçal, Ferda, Altınsaçlı, Songül

“…Ostracod species obtained from five coastal karstic brackish water springs on the Aegean Sea coastline were evaluated using multivariate statistical methods…”
Get full text