Search Results - "Alikasifoğlu, M"

Diagnostic yield of microarrays in individuals with non‐syndromic developmental delay and intellectual disability by Oğuz, S., Arslan, U. E., Kiper, P. Ö. Ş., Alikaşifoğlu, M., Boduroğlu, K., Utine, G. E.

“…Background Intellectual disability (ID), or developmental delay (DD) when the individual is yet under 5 years of age, is evident before 18 years of age and is…”
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Diagnostic yield of whole‐exome sequencing in non‐syndromic intellectual disability by Taşkıran, E. Z., Karaosmanoğlu, B., Koşukcu, C., Ürel‐Demir, G., Akgün‐Doğan, Ö., Şimşek‐Kiper, P. Ö., Alikaşifoğlu, M., Boduroğlu, K., Utine, G. E.

“…Background Aetiological diagnosis in non‐syndromic intellectual disability (NSID) still poses a diagnostic challenge to clinicians. Methods Screening is…”
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Café noir spots: a feature of familial progressive hyper‐ and hypopigmentation by Gülseren, D., Güleray, N., Akgün‐Doğan, Ö., Şimşek‐Kiper, P.Ö., Utine, E.G., Alikaşifoğlu, M., Ersoy‐Evans, S.

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A novel variant in severe disease of DADA2: involving vasculitic and haematologic features by Ayan, G, Yagiz, B, Cinar, OE, Cagdas, D, Ozbek, DA, Tuncer, A, Oguz, KK, Ozen, S, Alikasifoglu, M, Karadag, O

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Genetic IGF1R defects: new cases expand the spectrum of clinical features by Gonc, E. N., Ozon, Z. A., Oguz, S., Kabacam, S., Taskiran, E. Z., Kiper, P. O. S., Utine, G. E., Alikasifoglu, A., Kandemir, N., Boduroglu, O. K., Alikasifoglu, M.

“…Purpose We aimed to identify the phenotypic variability of IGF1R defects in a cohort of short children with normal GH secretion gathered through the last…”
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An eight‐case 1q21 region series: novel aberrations and clinical variability with new features by Ceylan, A. C., Sahin, I., Erdem, H. B., Kayhan, G., Simsek‐Kiper, P. O., Utine, G. E., Percin, F., Boduroglu, K., Alikasifoglu, M.

“…Background Rearrangement of the 1q21 region of chromosome 1 manifests as multiple phenotypes, including microcephaly, intellectual disability, dysmorphic…”
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Impact of Fat Mass and Obesity Associated (FTO) Gene Variants and Lifestyle Factors on Obesity Traits in A Turkish Population by Alsulami S, S., Isgin-Atici, K., Turan-Demirci, B., Surendran, S., Sendur, S.N., Lay, I., Karabulut, E., Ellahi, B., Lovegrove, Alikasifoglu, M., Erbas, T., Karani S, V., Buyuktuncer, Z.

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Nonsense mutation dystrophinopathy: How mutation-specific treatments changed our clinical practice? by Ardicli, D, Konuskan, B, Haliloglu, G, Alikasifoglu, M, Topaloğlu, H

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Expanding the pathological phenotype in megaconial congenital muscular dystrophy by Haliloglu, G, Talim, B, Aktas, D, Alikasifoglu, M, Topaloğlu, H

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Congenital myasthenic syndrome due to COLQ mutations: Clues for diagnosis by Haliloglu, G, Demirci, T, Alikasifoglu, M, Aktas, D, Anlar, B, Topaloglu, H

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Solving a puzzle: Incidentally detected high creatine kinase level combined with a family history of cardiomyopathy and sudden unexplained death leading to diagnosis of LMNA mutation by Genc, H. Maras, Ardicli, D, Haliloglu, G, Talim, B, Alikasifoglu, M, Topaloglu, H

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Assessment of whole-brain white matter by DTI in autosomal recessive spastic ataxia of Charlevoix-Saguenay by Oguz, K K, Haliloglu, G, Temucin, C, Gocmen, R, Has, A C, Doerschner, K, Dolgun, A, Alikasifoglu, M

“…Extension and characteristics of WM involvement other than the brain stem remain inadequately investigated in ARSACS. The aim of this study was to investigate…”
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Identification of point mutations and large rearrangements in the BRCA1 gene in 667 Turkish unselected ovarian cancer patients by Aktas, D, Gultekin, M, Kabacam, S, Alikasifoglu, M, Turan, A.T, Tulunay, G, Kose, M.F, Ortac, F, Yüce, K, Tunçbilek, E, Ayhan, A

“…Abstract Objective The aim of this study was to evaluate the prevalence and spectrum of a known founder mutation, 5382insC and large genomic rearrangements…”
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A multidisciplinary approach to the management of individuals with fragile X syndrome by Alanay, Y., Ünal, F., Turanlı, G., Alikaşifoğlu, M., Alehan, D., Akyol, U., Belgin, E., Şener, C., Aktaş, D., Boduroğlu, K., Utine, E., Volkan-Salancı, B., Özusta, Ş., Genç, A., Başar, F., Sevinç, Ş., Tunçbilek, E.

“…Background  Fragile X syndrome (FXS) is the most common inherited form of intellectual disability. Since the identification of the responsible gene (FMR1) and…”
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Parental factors in prenatal decision making and the impact of prenatal genetic counseling: a study on Turkish families by Simsek-Kiper, P O, Utine, G E, Volkan-Salanci, B, Alanay, Y, Aktaş, D, Alikaşifoğlu, M, Boduroğlu, K, Tuncbilek, E

“…This study explored the social factors affecting prenatal decision making, the impact of genetic counseling on prenatal decision making, and how genetic…”
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TWO CASES WITH DIFFERENT EPILEPSY TYPE AND DYSMORPHIC FEATURES ASSOCIATED WITH 17q21.31 MICRODELETION SYNDROME by Uctepe, E, Aktas, D, Alikasifoglu, M, Gunduz, E, Sonmez, F M

“…The 17q21.31 microdeletion syndrome is characterized by intellectual disability, epilepsy, facial dysmorphism and friendly behavior. Recently, KANSLJ gene has…”
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Influence of Bacillus Calmette-Guèrin vaccination at birth and 2 months old age on the peripheral blood T-cell subpopulations [gamma/delta (γδ) and alpha-beta (αβ) T cell] by Taştan, Y., Arvas, A., Demir, G., Alikaşifoğlu, M., Gür, E., Kıray, E.

“…The neonatal immune system is immature and may be affected by Bacillus Calmette‐Guèrin (BCG) vaccine. We investigated the influence of BCG given at two…”
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Searching for Copy Number Changes in Nonsyndromic X-Linked Intellectual Disability by Utine, G.E., Kiper, P.Ö., Alanay, Y., Haliloğlu, G., Aktaş, D., Boduroğlu, K., Tunçbilek, E., Alikaşifoğlu, M.

“…Intellectual disability (ID) has a prevalence of 2–3% with 0.3% of the population being severely retarded. Etiology is heterogeneous, owing to numerous genetic…”
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Violent behaviour among Turkish high school students and correlates of physical fighting by Alikasifoglu, Mujgan, Erginoz, Ethem, Ercan, Oya, Uysal, Omer, Kaymak, Deniz A., Ilter, Ozdemir

“…Background: The purpose of this study was to provide data about the prevalence of violent behaviour among high school students living in Istanbul and to…”
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A case series of adenosine deaminase 2 deficient patients emphasizing treatment and genotype-phenotype correlations by Batu, ED, Karadag, O, Taskiran, EZ, Kalyoncu, U, Aksentijevich, I, Alikasifoglu, M, Ozen, S

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