Search Results - "Aslanger, Ayca"

Voltage-gated sodium channel epilepsies in a tertiary care center: Phenotypic spectrum with correlation to predicted functional effects by Kurekci, Fulya, Akif Kilic, Mehmet, Akbas, Sinan, Avci, Rıdvan, Oney, Ceyda, Dilruba Aslanger, Ayca, Maras Genc, Hulya, Aydinli, Nur, Pembegul Yildiz, Edibe

“…•Patients carrying the Gain-of-Function SCN1A variant and diagnosed with Early Infantile Epileptic Encephalopathy are more inclined to derive benefit from…”
Get full text

Biallelic loss of TRAPPC9 function links vesicle trafficking pathway to autosomal recessive intellectual disability by Aslanger, Ayca Dilruba, Goncu, Beyza, Duzenli, Omer Faruk, Yucesan, Emrah, Sengenc, Esma, Yesil, Gozde

“…The trafficking protein particle (TRAPP) complex subunit 9 (C9) protein is a member of TRAPP-II complexes and regulates vesicle trafficking. Biallelic…”
Get full text

A Novel Mutation in the TRIP11 Gene: Diagnostic Approach from Relatively Common Skeletal Dysplasias to an Extremely Rare Odontochondrodysplasia by Yeter, Burcu, Dilruba Aslanger, Ayca, Yeşil, Gözde, Elçioğlu, Nursel H.

“…Odontochondrodysplasia (ODCD, OMIM #184260) is a rare, non-lethal skeletal dysplasia characterized by involvement of the spine and metaphyseal regions of the…”
Get full text

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

“…Context: Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by near-total lack of body fat. Objective: We aimed to…”
Get full text

A Second Family with Myhre Syndrome Caused by the Same Recurrent SMAD4 Pathogenic Variation (p.Arg496Cys) by Demir, Şenol, Alavanda, Ceren, Yeşil, Gözde, Aslanger, Ayça Dilruba, Ateş, Esra Arslan

“…Introduction: Myhre syndrome (MS; OMIM #139210) is a rare connective tissue disorder presenting with cardiovascular, respiratory, gastrointestinal, and…”
Get full text

LRP4 Mutations Alter Wnt/β-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome by Li, Yun, Pawlik, Barbara, Elcioglu, Nursel, Aglan, Mona, Kayserili, Hülya, Yigit, Gökhan, Percin, Ferda, Goodman, Frances, Nürnberg, Gudrun, Cenani, Asim, Urquhart, Jill, Chung, Boi-Dinh, Ismail, Samira, Amr, Khalda, Aslanger, Ayca D., Becker, Christian, Netzer, Christian, Scambler, Pete, Eyaid, Wafaa, Hamamy, Hanan, Clayton-Smith, Jill, Hennekam, Raoul, Nürnberg, Peter, Herz, Joachim, Temtamy, Samia A., Wollnik, Bernd

“…Cenani-Lenz syndrome (CLS) is an autosomal-recessive congenital disorder affecting distal limb development. It is characterized mainly by syndactyly and/or…”
Get full text

Clinical and molecular findings in 6 Turkish cases with Krabbe disease by Aslanger, Ayça Dilruba, Şengenç, Esma, Kölemen, Ayşe Betül, Demiral, Emine, Alkan, Alpay, İşcan, Akın, Yeşil, Gözde

“…Krabbe disease is a rare lysosomal storage disorder with a neurodegenerative course that occurs because of the deficiency of the beta-galactocerebrosidase…”
Get full text

Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly by Wang, Lu, Li, Zhen, Sievert, David, Smith, Desirée E. C., Mendes, Marisa I., Chen, Dillon Y., Stanley, Valentina, Ghosh, Shereen, Wang, Yulu, Kara, Majdi, Aslanger, Ayca Dilruba, Rosti, Rasim O., Houlden, Henry, Salomons, Gajja S., Gleeson, Joseph G.

“…Asparaginyl-tRNA synthetase1 (NARS1) is a member of the ubiquitously expressed cytoplasmic Class IIa family of tRNA synthetases required for protein…”
Get full text

GJB2-related non-syndromic hearing loss variants’ spectrum and their frequency in Turkish population by Güleç,Çağrı, Aslanger,Ayça Dilruba, Karaman,Volkan, Wollnik,Bernd, Tebgeç,Fatih, Kayserili-Karabey,Hülya, Uyguner,Zehra Oya

“…Objective: Hearing loss (HL) is one of the most prevalent chronic conditions in children and has consequences in speech, language, education, and social…”
Get full text

Newly described clinical features in two siblings with MACS syndrome and a novel mutation in RIN2 by Aslanger, Ayca D., Altunoglu, Umut, Aslanger, Emre, Satkın, Bilge N., Uyguner, Zehra Oya, Kayserili, Hülya

“…ABSTRACT The disorder comprising Macrocephaly, Alopecia, Cutis laxa, and Scoliosis has been designated MACS syndrome. It is a rare condition, inherited in an…”
Get full text

Clinical and bi-genomic DNA findings of patients suspected to have mitochondrial diseases by Gedikbasi, Asuman, Toksoy, Guven, Karaca, Meryem, Gulec, Cagri, Balci, Mehmet Cihan, Gunes, Dilek, Gunes, Seda, Aslanger, Ayca Dilruba, Unverengil, Gokcen, Karaman, Birsen, Basaran, Seher, Demirkol, Mubeccel, Gokcay, Gulden Fatma, Uyguner, Zehra Oya

“…Mitochondrial diseases are the most common group of inherited metabolic disorders, causing difficulties in definite diagnosis due to clinical and genetic…”
Get full text

Author Correction: Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly by Wang, Lu, Li, Zhen, Sievert, David, Smith, Desirée E. C., Mendes, Marisa I., Chen, Dillon Y., Stanley, Valentina, Ghosh, Shereen, Wang, Yulu, Kara, Majdi, Aslanger, Ayca Dilruba, Rosti, Rasim O., Houlden, Henry, Salomons, Gajja S., Gleeson, Joseph G.

“…A Correction to this paper has been published: https://doi.org/10.1038/s41467-021-21448-1…”
Get full text

KCNJ10 gene mutation in an 8-year-old boy with seizures by Kara, Bülent, Ekici, Barış, İpekçi, Belkıs, Aslanger, Ayça Koçbaş, Scholl, Ute

“…Alterations in ion channel function can lead to abnormal neuronal activity, such as occurs in epilepsy. Channelopathies are conditions that are caused by…”
Get full text

A CASE OF POLYCYTHEMIA DIAGNOSED AS HEMOGLOBIN ANDREW-MINNEAPOLIS by Mustafa Bilici, Serap Karaman, Aysegul Unuvar, Deniz Tugcu, Gülsah Tanyildiz, Ayca Dilruba Aslanger, Oya Uyguner, Rumeysa Tuna Deveci, Sifa Sahin, Zeynep Karakas

“…Objective: Polycythemia is a rare condition in which an increase in erythrocyte mass is observed. It can be primary or secondary. Primary polycythemia occurs…”
Get full text

Phenotype-Genotype Correlations of GH1 Gene Variants in Patients with Isolated Growth Hormone Deficiency or Multiple Pituitary Hormone Deficiency by Öztürk, Ayşe Pınar, Yavas Abali, Zehra, Aslanger, Ayça Dilruba, Bas, Firdevs, Toksoy, Güven, Karaman, Volkan, Bagirova, Gulandam, Poyrazoglu, Sukran, Uyguner, Zehra Oya, Darendeliler, Feyza

“…Genetic forms of growth hormone deficiency (GHD) may occur as isolated GHD (IGHD) or as a component of multiple pituitary hormone deficiency (MPHD). This study…”
Get more information

A Novel RNPC3 Gene Variant Expands the Phenotype in Patients with Congenital Hypopituitarism and Neuropathy by Yavas Abali, Zehra, Gokpinar Ili, Ezgi, Bas, Firdevs, Ulak Ozkan, Melis, Gulec, Çagrı, Toksoy, Guven, Ozturk, Ayşe Pinar, Karakilic Ozturan, Esin, Aslanger, Ayça, Caliskan, Mine, Yesil, Gozde, Poyrazoglu, Sukran, Darendeliler, Feyza, Oya Uyguner, Zehra

“…Pathogenic biallelic RNPC3 variants cause congenital hypopituitarism (CH) with congenital cataracts, neuropathy, developmental delay/intellectual disability,…”
Get more information

An investigation of the etiology and follow‐up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 variant by Yüksel Ülker, Aylin, Uludağ Alkaya, Dilek, Çağlayan, Ahmet Okay, Usluer, Esra, Aykut, Ayça, Aslanger, Ayça, Vural, Mehmet, Tüysüz, Beyhan

“…Overgrowth‐intellectual disability (OGID) syndromes are clinically and genetically heterogeneous group of disorders. The aim of this study was to examine the…”
Get full text

A novel shoulder disability staging system for scapulothoracic arthrodesis in patients with facioscapulohumeral dystrophy by Eren, İlker, Birsel, Olgar, Öztop Çakmak, Özgür, Aslanger, Ayça, Gürsoy Özdemir, Yasemin, Eraslan, Serpil, Kayserili, Hülya, Oflazer, Piraye, Demirhan, Mehmet

“…Scapulothoracic arthrodesis (STA) is a well-established surgical technique to provide scapular stabilisation in patients with facioscapulohumeral dystrophy…”
Get full text

Functional characterization of KCNMA1 mutation associated with dyskinesia, seizure, developmental delay, and cerebellar atrophy by Yucesan, Emrah, Goncu, Beyza, Ozgul, Cemil, Kebapci, Arda, Aslanger, Ayca Dilruba, Akyuz, Enes, Yesil, Gozde

“…KCNMA1 located on chromosome 10q22.3, encodes the pore-forming α subunit of the 'Big K+' (BK) large conductance calcium and voltage-activated K + channel…”
Get full text

Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery by Scott, Eric M, Halees, Anason, Itan, Yuval, Spencer, Emily G, He, Yupeng, Azab, Mostafa Abdellateef, Gabriel, Stacey B, Belkadi, Aziz, Boisson, Bertrand, Abel, Laurent, Clark, Andrew G, Alkuraya, Fowzan S, Casanova, Jean-Laurent, Gleeson, Joseph G

“…Joseph Gleeson and colleagues report whole-exome sequencing of a cohort of over 1,000 individuals from the Greater Middle East, characterizing common and rare…”
Get full text