Kurum Yazarı "Ayaz, Akif" PubMed İndeksli Yayınlar Koleksiyonu İçin Listeleme
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Chronic neutropenia in childhood: Laboratory and clinical features
Nepesov, Serdar; Yaman, Yöntem; Elli, Murat; Bayram, Nihan; Özdilli, Kürşat; Ayaz, Akif; Anak, Sema (Springer India, 2022)Objectives To describe the clinical characteristics of patients with chronic neutropenia. Methods Data of 36 patients with chronic neutropenia, who were followed up in the authors' clinic between May 2013 and May 2020, ... -
Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome
Aksu Uzunhan, Tuğçe; Ertürk, Biray; Aydın, Kürşad; Ayaz, Akif; Altunoğlu, Umut; Yarar, Murat Hakkı; Gezdirici, Alper; İçağasıoğlu, Dilara Füsun; Gökpınar İli, Ezgi; Uyanık, Bülent; Eser, Metin; Kutbay, Yaşar Bekir; Topçu, Yasemin; Kılıç, Betül; Bektaş, Gonca; Arduç Akçay, Ayfer; Ekici, Barış; Chousein, Amet; Avcı, Şahin; Yüksel, Atıl; Kayserili, Hülya (Elsevier B.V., 2023)Objective: Joubert syndrome is a neurodevelopmental disorder with a distinctive hindbrain malformation called molar tooth sign, causing motor and cognitive impairments. More than 40 genes have been associated with Joubert ... -
Clinical and laboratory evaluation of children with congenital hyperinsulinism: A single center experience
Gündoğdu, Semra; Çiftci, Mustafa; Atay, Enver; Ayaz, Akif; Ceran, Ömer; Atay, Zeynep (Walter de Gruyter GmbH, 2023)Objectives: To evaluate and present the data regarding clinical, laboratory, radiological and the results of molecular genetic analysis of patients with hyperinsulinemic hypoglycemia in our clinics. Methods: A total of 9 ... -
Clinical and molecular genetic findings of Crisponi/cold-induced sweating syndrome (CS/CISS) spectrum in patients from Turkey
Yılmaz Güleç, Elif; Turgut, Gözde Tutku; Gezdirici, Alper; Karaman, Volkan; Öztürk, Fatma Nihal; Avcı, Şahin; Kalaycı, Tuğba; Şentürk, Leyli; Ayaz, Akif; Kayserili, Hülya; Uyguner, Zehra Oya; Altunoğlu, Umut (Wiley, 2022)Crisponi/cold-induced sweating syndrome (CS/CISS) is a rare autosomal recessive disorder characterized by episodic hyperthermia, arthrogryposis, impaired feeding ability, and respiratory distress. The classic CS/CISS is ... -
Clinical, genetic, and outcome characteristics of pediatric patients with primary hemophagocytic lymphohistiocytosis
Nepesov, Serdar; Yaman, Yöntem; Elli, Murat; Bayram, Nihan; Özdilli, Kürşat; Kıykım, Ayça; Çakır, Deniz; Kılıç, Betül; Aydın, Kürşad; Ayaz, Akif; Telhan, Leyla; Anak, Sema (AVES, 2022)Objectİive: In this study, we sought to describe the clinical, laboratory, and genetic characteristics of patients diagnosed with primary hemophagocytic lymphohistiocytosis. Thus, we aimed to evaluate the early diagnosis ... -
DEVOUR: Deleterious variants on uncovered regions in whole-exome sequencing
Türk, Erdem; Ayaz, Akif; Yüksek, Ayhan; Süzek, Barış Ethem (PeerJ Inc., 2023)The discovery of low-coverage (i.e. uncovered) regions containing clinically significant variants, especially when they are related to the patient's clinical phenotype, is critical for whole-exome sequencing (WES) based ... -
Diagnostic value of microarray method in autism spectrum disorder, intellectual disability, and multiple congenital anomalies and some candidate genes for autism: Experience of two centers
Ayaz, Akif; Gezdirici, Alper; Yılmaz Güleç, Elif; Özalp, Özge; Köseoğlu, Abdullah Hüseyin; Doğru, Zeynep; Yalçıntepe, Sinem (Galenos Publishing House, 2022)Objective: This study aimed to demonstrate the diagnostic value of microarray testing in autism spectrum disorder, intellectual disability, and multiple congenital anomalies of unknown etiology, as well as to report some ... -
First case with RANBP2 biallelic mutation and severe acute necrotizing encephalopathy phenotype
Ayaz, Akif; Doğru, Zeynep; Kılıç, Betül; Süzek, Barış Ethem (Elsevier B.V., 2022)Familial acute necrotizing encephalopathy (ANE) is a rapidly progressive encephalopathy that can occur after common viral infections at different stages of life. The clinical findings of 2 siblings diagnosed with ANE were ... -
Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular disease
Marais, Anett; Bertoli-Avella, Aida M.; Beetz, Christian; Altunoğlu, Umut; Alhashem, Amal; Mohamed, Sarar; Alghamdi, Abdulaziz; Willems, Patrick; Tsoutsou, Eirini; Fryssira, Helena; Pons, Roser; Almarzooq, Reem; Yüksel Karatoprak, Elif; Ayaz, Akif; Ünverengil, Gökçen; Calvo, Maria; Yüksel, Zafer; Bauer, Peter (Elsevier Masson s.r.l., 2022)Transcriptional coregulators modulate the efficiency of transcription factors. Bi-allelic variants in TRIP4 and ASCC1, two genes that encode members of the tetrameric coregulator ASC-1, have recently been associated with ... -
HLA - matched related donor hematopoietic stem cell transplantation in a patient with polynucleotide kinase 3-phosphatase mutation developed acute myeloid leukemia
Bayram, Nihan; Yaman, Yöntem; Elli, Murat; Özdilli, Kürşat; Nepesov, Serdar; Doğan, Mehmet Sait; Ayaz, Akif; Anak, Sema (Wiley, 2022)Background PNPK gene mutations result in DNA repair disorders and have a spectrum of neurodevelopmental manifestations. To date, cancer predisposition has not been described in patients with PNKP mutations. Observation ... -
Homozygous exonic and intragenic NRXN1 deletion presenting as either West syndrome or autism spectrum disorder in two siblings
Aksu Uzunhan, Tuğçe; Ayaz, Akif (Elsevier B.V., 2022)Neurexins (NRXNs) are cell-adhesion molecules that play critical roles in establishing and maintaining synaptic connections. Humans have three NRXN genes (NRXN1, NRXN2, NRXN3) and heterozygous intragenic microdeletions ... -
How to manage low estriol levels in pregnancies, one center experience
Yılmaz Güleç, Elif; Gezdirici, Alper; Ayaz, Akif; Öztürk, Fatma Nihal; Polat, İbrahim (Galenos Publishing House, 2022)Objective: Low estriol (uE3) levels in the second-trimester screening for Down syndrome may be the result of fetal demise, congenital abnormalities, or some genetic hormonal disorders of the fetus. Although X-linked ... -
Interacting with AP1 complex mutated synergin gamma (SYNRG) reveals a novel coatopathy in the form of complicated hereditary spastic paraplegia
Ayaz, Akif; Aksu Uzunhan, Tuğçe; Aydın, Kürşad (Elsevier, 2022)Background: Today, it is known that about 80 genes are involved in the etiology of hereditary spastic paraplegia. However, there are many cases whose etiology could not be determined by extensive genetic tests such as ... -
Shared biological pathways and processes in patients with intellectual disability: A multicenter study
Günay, Çaǧatay; Aykol, Duygu; Özsoy, Özlem; Sönmezler, Ece; Hancı, Yaren Sena; Kara, Bülent; Akkoyunlu Sünnetçi, Deniz; Çine, Naci; Deniz, Adnan; Öztürk, Gülten (Georg Thieme Verlag, 2023)Background Although the underlying genetic causes of intellectual disability (ID) continue to be rapidly identified, the biological pathways and processes that could be targets for a potential molecular therapy are not ... -
Stress-induced Childhood Onset Neurodegeneration with Ataxia and Seizures (CONDSIAS) presenting with torticollis attacks: Phenotypic variability of the same mutation in two Turkish patients
Öztürk, Gülten; Ayaz, Akif; Topçu, Yasemin; Akyüz, Gülcan; Ünver, Olcay; Akbeyaz, İsmail; Ekinci, Gazanfer; Türkdoğan, Dilşad (Wolters Kluwer Medknow Publications, 2022)Two patients with the same genetic mutation in ADPRHL2 gene, which takes a role in DNA repair, transcription, telomer function, and apoptosis are presented.[1] Developmental delay, intellectual disability, epilepsy, ...