Search Results - "Utine, G E"

PRRX1 is mutated in an otocephalic newborn infant conceived by consanguineous parents by Çelik, T, Simsek, PO, Sozen, T, Ozyuncu, O, Utine, GE, Talim, B, Yiğit, Ş, Boduroglu, K, Kamnasaran, D

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Clinical and molecular analysis of RASopathies in a group of Turkish patients by Şimşek-Kiper, PÖ, Alanay, Y, Gülhan, B, Lissewski, C, Türkyılmaz, D, Alehan, D, Çetin, M, Utine, GE, Zenker, M, Boduroğlu, K

“…Şimşek‐Kiper PÖ, Alanay Y, Gülhan B, Lissewski C, Türkyılmaz D, Alehan D, Çetin M, Utine GE, Zenker M, Boduroğlu K. Clinical and molecular analysis of patients…”
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Mucolipidosis type III in an adolescent presenting with atypical facial features and skeletal deformities by Simsek-Kiper, P O, Topaloglu, R, Sahin, Y, Utine, G E, Boduroglu, K

“…Mucolipidosis type III (MLIII) (MIM# 252600) is an uncommon autosomal recessive disorder that results from deficiency of the multimeric enzyme,…”
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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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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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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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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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Neocentric small supernumerary marker chromosomes (sSMC)--three more cases and review of the literature by Liehr, T, Utine, G E, Trautmann, U, Rauch, A, Kuechler, A, Pietrzak, J, Pietracz, J, Bocian, E, Kosyakova, N, Mrasek, K, Boduroglu, K, Weise, A, Aktas, D

“…Here we report on three new patients with neocentric small supernumerary marker chromosomes (sSMC) derived from chromosome 2, 13 and 15, respectively. The…”
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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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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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Al‐Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2‐Related Disorders by Batkovskyte, Dominyka, McKenzie, Fiona, Taylan, Fulya, Simsek‐Kiper, Pelin Ozlem, Nikkel, Sarah M, Ohashi, Hirofumi, Stevenson, Roger E, Ha, Thuong, Cavalcanti, Denise P, Miyahara, Hiroyuki, Skinner, Steven A, Aguirre, Miguel A, Akçören, Zühal, Utine, Gulen Eda, Chiu, Tillie, Shimizu, Kenji, Hammarsjö, Anna, Boduroglu, Koray, Moore, Hannah W, Louie, Raymond J, Arts, Peer, Merrihew, Allie N, Babic, Milena, Jackson, Matilda R, Papadogiannakis, Nikos, Lindstrand, Anna, Nordgren, Ann, Barnett, Christopher P, Scott, Hamish S, Chagin, Andrei S, Nishimura, Gen, Grigelioniene, Giedre

“…ABSTRACT Lethal short‐limb skeletal dysplasia Al‐Gazali type (OMIM %601356), also called dysplastic cortical hyperostosis, Al‐Gazali type, is an ultra‐rare…”
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Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia by Tekin, M, Öztürkmen Akay, H, Fitoz, S, Birnbaum, S, Cengiz, FB, Sennaroğlu, L, İncesulu, A, Yüksel Konuk, EB, Hasanefendioğlu Bayrak, A, Şentürk, S, Cebeci, İ, Ütine, GE, Tunçbilek, E, Nance, WE, Duman, D

“…Homozygous mutations in the fibroblast growth factor 3 (FGF3) gene have recently been discovered in an autosomal recessive form of syndromic deafness…”
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Partial trisomy 9q syndrome with a de novo tandem duplication of 9q22.2-q31.1 by Utine, G E, Melotte, C, Vermeesch, J R, Fryns, J P

“…A female with a de novo tandem duplication of 9q22.2-q31.1 is presented. Molecular delineation of the breakpoints was made by microarray CGH and fluorescent in…”
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Distal partial trisomy 1q: report of two cases and a review of the literature by Utine, G. E., Aktas, D., Alanay, Y., Gücer, S., Tuncbilek, E., Mrasek, K., Liehr, T.

“…We report on two cases with partial trisomy 1q syndrome. One case was a mid‐trimester fetus with multiple malformations that was prenatally diagnosed with a de…”
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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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Neurochemical evaluation of brain function with 1H magnetic resonance spectroscopy in patients with fragile X syndrome by Utine, G.E., Akpınar, B., Arslan, U., Kiper, P.Ö.Ş., Volkan-Salancı, B., Alanay, Y., Aktaş, D., Haliloğlu, G., Oğuz, K.K., Boduroğlu, K., Alikaşifoğlu, M.

“…ABSTRACT Fragile X syndrome (FXS) is the most common hereditary disorder of intellectual disability. Cognitive deficits involve executive function, attention,…”
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Opinions of Turkish physicians towards termination of pregnancy for fetal disorders by Utine, G E, Kiper, P O, Salanci, B V, Alanay, Y, Aktaş, D, Alikaşifoğlu, M, Boduroğlu, K, Tunçbilek, E

“…Termination of pregnancy (ToP) raises ethical dilemmas. Although ToP for fetal disorders is commonly approved by health professionals, their opinions and…”
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Mosaicism for terminal deletion of 4q by Utine, G E, Aktas, D

“…Chromosomal imbalance affecting the long arm of chromosome 4 has been reported in a variety of distinct clinical conditions. Common clinical findings have been…”
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Kabuki syndrome and trisomy 10p by Utine, G E, Alanay, Y, Atkaş, D, Boduroğlu, K, Alikaşifoğlu, M, Tunçbilek, E

“…Kabuki syndrome (KS) (MIM 147920) is a multiple congenital anomalies/mental retardation syndrome of unknown cause. There is multisystem involvement of…”
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Coexistent mosaic monosomy 21 and fragile X syndrome in a mentally retarded male patient by Utine, G E, Aktas, D, Boduroğlu, K, Alikasifoğlu, M, Tunçbilek, E

“…Fragile X syndrome (FXS) is a well-recognized mental retardation syndrome with characteristic facial features and behavioural phenotype. Monosomy 21 is a rare…”
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