Browsing by Author "Kaymakcalan, Hande"
Now showing items 1-14 of 14
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1q21.1 Deletions and Duplications in 2 Siblings with Psychiatric Problems
Kaymakcalan, Hande; Li, Peining (Springer India, 2019)[No abstract available] -
ALPK3 gene mutation in a patient with congenital cardiomyopathy and dysmorphic features
Caglayan, Ahmet Okay; Sezer, Rabia Gonul; Kaymakcalan, Hande; Ulgen, Ege; Yavuz, Taner; Baranoski, Jacob F.; Gunel, Murat (COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT, 2017)Primary cardiomyopathy is one of the most common inherited cardiac diseases and harbors significant phenotypic and genetic heterogeneity. Because of this, genetic testing has become standard in treatment of this disease ... -
Biallelic loss of human CTNNA2, encoding alpha N-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration
Schaffer, Ashleigh E.; Breuss, Martin W.; Caglayan, Ahmet Okay; Al-Sanaa, Nouriya; Al-Abdulwahed, Hind Y.; Kaymakcalan, Hande; Gleeson, Joseph G. (NATURE PUBLISHING GROUP, 2018)Neuronal migration defects, including pachygyria, are among the most severe developmental brain defects in humans. Here, we identify biallelic truncating mutations in CTNNA2, encoding alpha N-catenin, in patients with a ... -
Clinical, demographic and genetic features of patients with congenital heart disease : A single center experience
Kaymakcalan, Hande; Yalcinkaya, Leyla; Nikerel, Emrah; Yalcin, Yalim; Dong, Weilai; Sencicek, Adife Gulhan Ercan (Marmara Univ, Fac Medicine, 2022)Objective: We aimed to evaluate the demographic and clinical characteristics of children with congenital heart disease (CHD) in a private pediatric cardiovascular genetics clinic in Istanbul from January 2016 to July 2018 ... -
Correlation of PAPP-A values with maternal characteristics, biochemical and ultrasonographic markers of pregnancy
Kaymakcalan, Hande; Uzut, Ommu Gulsum; Harkonen, Juho; Bakir Gungor, Burcu (Marmara Univ, Fac Medicine, 2021)Objective: Our aim is to investigate whether there is a correlation of pregnancy-associated plasma protein A (PAPP-A) values with other variables in pregnancy and maternal characteristics. Materials and Methods: We ... -
Eighth case of Li-Campeau syndrome in a Turkish patient caused by a novel pathogenic variant in UBR7 and expanding the phenotype
Edizadeh, Masoud; Kaymakcalan, Hande; Valilou, Saeed Farajzadeh; Sahin, Yavuz (Wiley, 2023)Li-Campeau syndrome (LICAS) is an autosomal recessive disorder characterized by developmental delay, intellectual disability, genital anomalies, congenital heart defects, and dysmorphic features. LICAS is caused by biallelic ... -
Eighth patient with Li-Campeau sydrome and expansion of the phenotype
Kaymakcalan, Hande; Sahin, Yavuz; Edizadeh, Masoud; Karaveli, Halis (Springernature, 2023)[Abstract Not Available] -
Investigation of the lawsuits regarding Down syndrome
Kaymakcalan, Hande (Marmara Univ, Fac Medicine, 2022)Objective: To examine the number of cases filed about Down syndrome in terms of its numbers, causes and consequences, to provide an overview of what doctors should pay attention to when informing and consulting patients ... -
Mutation spectrum of congenital heart disease in a consanguineous Turkish population
Dong, Weilai; Kaymakcalan, Hande; Jin, Sheng Chih; Diab, Nicholas S.; Tanidir, Cansaran; Yalcin, Ali Seyfi Yalim; Brueckner, Martina (Wiley, 2022)Backgrounds: While many studies agree that consanguinity increases the rate of congenital heart disease (CHD), few genome analyses have been conducted with consanguineous CHD cohorts. Methods: We recruited 73 CHD probands ... -
Novel compound heterozygous mutations in GPT2 linked to microcephaly, and intellectual developmental disability with or without spastic paraplegi
Kaymakcalan, Hande; Yarman, Yanki; Goc, Nukte; Toy, Fatih; Meral, Cihan; Ercan-Sencicek, A. Gulhan; Gunel, Murat (WILEY, 2018)We here describe novel compound heterozygous missense variants, NM_133443:c.[400C>T] and NM_133443:[1435G>A], in the glutamic-pyruvic transaminase 2 (GPT2) gene in a large consanguineous family with two affected siblings ... -
Novel mutation and report of two new physical findings in renpenning syndrome
Kaymakcalan, Hande; Sencicek, Adife Gulhan Ercan; Cebeci, Ayse Nurcan; Yalcin, Ali Seyfi Yalim (Springernature, 2022)[No Abstract Available] -
Prevalence and clinical/molecular characteristics of PTEN mutations in Turkish children with autism spectrum disorders and macrocephaly
Kaymakcalan, Hande; Kaya, Ilyas; Binici, Nagihan Cevher; Nikerel, Emrah; Ozbaran, Burcu; Aksoy, Mehmet Gorkem; Erbilgin, Seda (Wiley, 2021)Background: Phosphatase and tensin homolog (PTEN) germline mutations are associated with cancer syndromes (PTEN hamartoma tumor syndrome; PHTS) and in pediatric patients with autism spectrum disorder (ASD) and macrocephaly. ... -
A rare etiology of tetralogy of Fallot with pulmonary atresia: Renpenning syndrome
Kaymakcalan, Hande; Ercan-Sencicek, A. Gulhan; Cebeci, Ayse Nurcan; Dong, Weilai; Yalcin, Ali Seyfi Yalim (Aves, 2022)[No Abstract Available] -
A rare etiology of tetralogy of Fallot with pulmonary atresia: Renpenning syndrome
[Abstract Not Available]