Search Results - "Cinbis, Mine"

The role of RELN in lissencephaly and neuropsychiatric disease by Chang, Bernard S., Duzcan, Fusun, Kim, Seonhee, Cinbis, Mine, Aggarwal, Abha, Apse, Kira A., Ozdel, Osman, Atmaca, Munevver, Zencir, Sevil, Bagci, Huseyin, Walsh, Christopher A.

“…Reelin is an extracellular matrix‐associated protein important in the regulation of neuronal migration during cerebral cortical development. Point mutations in…”
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Terminal 14q deletion with unbalanced t(Y;14)(q12;q32) translocation by Bağcı, Gülseren, Çetin, Gökhan Ozan, Semerci, Nur, Toruner, Gokce A., Cinbiş, Mine

“…Terminal deletions of chromosome 14q are very rarely reported. Schneider et al. (2008) reviewed about 20 cases of 14q32 region deletion in a previous article…”
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Cognitive functions in neurofibromatosis type 1 patients and unaffected siblings by Erdoğan-Bakar, Emel, Cinbiş, Mine, Ozyürek, Hamit, Kiriş, Nurcihan, Altunbaşak, Sakir, Anlar, Banu

“…Attention, learning, and perceptual problems have been reported at various degrees and rates in neurofibromatosis type 1 (NF1). We aimed to define the…”
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Subtelomeric 6p monosomy and 12q trisomy in a patient with a 46,XX,der(6)t(6;12)(p25.3;q24.31) karyotype: Phenotypic overlap with Mutchinick syndrome by Semerci, C. Nur, Cinbis, Mine, Ullmann, Reinhard, Steininger, Anne, Bahce, Muhterem, Yagci, Baki, Ozden, Serap, Sabir, Nuran, Gumus, Dilihan, Tepeli, Emre, Arteaga, Jazmín, Mutchinick, Osvaldo M.

“…We report on a patient with partial monosomy 6p and partial trisomy 12q identified by fluorescent in situ hybridization (FISH) and array‐based comparative…”
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Familial Segmental Neurofibromatosis by Oguzkan, Sibel, Cinbis, Mine, Ayter, Sükriye, Anlar, Banu, Aysun, Sabiha

“…Segmental neurofibromatosis is considered to be the result of postzygotic NF1 gene mutations. We present a family in which the proband has generalized…”
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Eosinophilic granulomatosis with polyangiitis (churg-strauss syndrome) without respiratory symptoms in a boy by Yüksel, Selçuk, Evrengül, Havva, Becerir, Tülay, Koçyiğit, Ali, Cinbiş, Mine, Demirkan, Neşe Çallı

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Facial paralysis in an infant with infectious mononucleosis by Polat, Aziz, Balcı, Yasemin Işık, Candemir, Maşallah, Karakuş, Tuğrul, Cinbiş, Mine

“…Infectious mononucleosis is caused by Epstein–Barr virus, and is rarely seen in infancy. Clinical findings include exudative tonsillitis, generalized or…”
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Intramedullary astrocytoma presenting as spinal muscular atrophy by Aysun, S, Cinbiş, M, Ozcan, O E

“…We present a 6-year-old patient with a spinal cord tumor who had been followed with the diagnosis of spinal muscular atrophy since the age of 23 months…”
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Molecular genetic analyses in neurofibromatosis type 1 patients with tumors by Oguzkan, Sibel, Terzi, Yunus Kasim, Cinbis, Mine, Anlar, Banu, Aysun, Sabiha, Ayter, Sukriye

“…Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant disorders. NF1 is clinically characterized by neurofibromas, pigmentation…”
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Subtelomeric 6p monosomy and 12q trisomy in a patient with a 46,XX,der(6)t(6;12)(p25.3;q24.31) karyotype: Phenotypic overlap with Mutchinick syndrome by Semerci, C. Nur, Cinbis, Mine, Ullmann, Reinhard, Steininger, Anne, Bahce, Muhterem, Yagci, Baki, Ozden, Serap, Sabir, Nuran, Gumus, Dilihan, Tepeli, Emre, Arteaga, Jazmín, Mutchinick, Osvaldo M.

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Ambigus genitalyalı bir çocukta tekrarlayan idrar yolu enfeksiyonları by YÜKSEL, Selçuk, HEREK, Duygu, BECERİR, Tülay, Özkan HEREK, Özmert M.a. ÖZDEMİR, CİNBİŞ, Mine, SEMİZ, Serap

“…Ambigus genitalya bir kız ya da erkek çocuğun dış genital yapısının tipik anatomik görünüme sahip olmaması olarak tanımlanır. Bu çocuklarda klinik ve metabolik…”
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Hepatic dislocation associated with left-sided congenital diaphragmatic eventration without situs inversus by Herek, Ozkan, Cinbiş, Mine

“…A 3-month-old boy with hepatic dislocation and left-sided congenital diaphragmatic eventration without situs inversus is described. From a review of the…”
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Metotreksat tedavisine bağlı nörotoksisite gelişen iki olgunun Klinik ve radyolojik incelemesi by KIROĞLU, Yılmaz, CİNBİŞ, Mine, BİCAN, Mevlüt, POLAT, Aziz

“…Metotreksat, akut lenfoblastik lösemi, lenfoma veya osteosarkom gibi neoplastik hastalıklarıntedavisinde kullanılan antimetabolit grubu bir kemoterapötik…”
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Molecular analysis of neurofibromatosis type 1 in Turkish families using polymorphic markers by Oğuzkan, Sibel, Cinbiş, Mine, Ayter, Sükriye, Anlar, Banu, Aysun, Sabiha

“…Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder characterized by multiple neurofibromas, café-au-lait spots, and Lisch nodules of iris…”
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Neonatal goiter caused by expectorant usage by Bostanci, I, Sarioģlu, A, Ergin, H, Akşit, A, Cinbiş, M, Akalin, N

“…A female newborn was admitted with the symptoms of mild respiratory distress, protruding tongue, hypotonicity, cutis marmorata, sclerema, myxedema, abdominal…”
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Hepatic dislocation associated with left-sided congenital diaphragmatic eventration without situs inversus by Herek, Ozkan, Cinbiş, Mine

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Metotreksat tedavisine bağlı nörotoksisite gelişen iki olgununklinik ve radyolojik incelemesi by CİNBİŞ, Mine, KIROĞLU, Yılmaz, BİCAN, Mevlüt, POLAT, Aziz

“…Metotreksat, akut lenfoblastik lösemi, lenfoma veya osteosarkom gibi neoplastik hastalıkların tedavisinde kullanılan antimetabolit grubu bir kemoterapötik…”
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Henoch-Schönlein purpuralı hastaların analizi by KILIÇ, İlknur, CANDEMİR, Maşallah, ERGİN, Hacer, CİNBİŞ, Mine, SEMİZ, Serap, HALİS, Hülya, POLAT, Aziz

“…Amaç: HSP'li hastalarımızın epidemiyolojik ve klinik özellikleri, laboratuar bulguları ve hastalığın seyrinin incelenmesi amaçlandı. Yöntem: 2000-2006 yılları…”
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Akut bronşiyolitli olguların retrospektif değerlendirilmesi by KILIÇ, İlknur, ERGİN, Hacer, CİNBİŞ, Mine, DAĞDEVİREN, Erol, SEMİZ, Serap, POLAT, Aziz

“…Amaç: Bronşiolit, küçük hava yollarının inflamatuar obstrüksiyonundan kaynaklanan ve özellikle 6 aydan küçük çocuklarda en sık hospitalizasyon nedeni olan bir…”
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