Search Results - "Bokesoy, I."

DNMT3B mutations and DNA methylation defect define two types of ICF syndrome by Jiang, Y.L., Rigolet, M., Bourc'his, D., Nigon, F., Bokesoy, I., Fryns, J.P., Hultén, M., Jonveaux, P., Maraschio, P., Mégarbané, A., Moncla, A., Viegas-Péquignot, E.

“…ICF syndrome is a rare autosomal recessive disease characterized by variable immunodeficiency, centromeric instability, and facial abnormalities. Mutations in…”
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548 POSTER Micronuclei in exfoliated bladder cells of gynecological cancer patients receiving pelvic radiotherapy by Nalca Andrieu, M, Gumus Akay, G, Koc Baser, D, Yalcin Burhan, B, Dizman, A, Bokesoy, I

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Null alleles of the aldolase B gene in patients with hereditary fructose intolerance by Ali, M, Tunçman, G, Cross, N C, Vidailhet, M, Bökesoy, I, Gitzelmann, R, Cox, T M

“…We report three new mutations in the gene for aldolase B that are associated with hereditary fructose intolerance (HFI). Two nonsense mutations create opal…”
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Urinary cyclophosphamide excretion and micronuclei frequencies in peripheral lymphocytes and in exfoliated buccal epithelial cells of nurses handling antineoplastics by Burgaz, Sema, Karahalıl, Bensu, Bayrak, Pinar, Taşkın, Lale, Yavuzaslan, Fadime, Bökesoy, Işık, Anzion, R.B.M, Bos, R.P, Platin, Nurgün

“…In this study, urinary cyclophosphamide (CP) excretion rate, as well as micronuclei (MN) in peripheral lymphocytes and in buccal epithelial cells were…”
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Gonadal dysgenesis and the Mayer-Rokitansky-Kuster-Hauser syndrome in a girl with 46,X,del(X)(pter-->q22:) by Aydos, S, Tükün, A, Bökesoy, I

“…The association of mullerien duct with gonadal dysgenesis is extremely rare. We report such a case in a 19 year-old white woman with a 46,X,del(X)(pter-->q22:)…”
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Macrodystrophia lipomatosa of the feet and subcutaneous lipomas by Aydos, S.E., Fitoz, S., Bökesoy, I.

“…We report on a girl aged 16 months with localized gigantism of the lower limb and widespread subcutaneous lipomas. This is the first case of macrodystrophia…”
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Aldolase B mutations in Turkish families from central Anatolia by Karabulut, H G, Halsall, D, Sayin, B D, Tonyukuk, V, Cox, T M, Bökesoy, I

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A Down syndrome case with a karyotype of 46,XY,rec(21)dup(21q)inv(21)(p11q22) derived from paternal pericentric inversion of chromosome 21 by Ilgin Ruhi, H, Tükün, A, Karabulut, Hg, Bayazit, P, Bökesoy, I

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Chromosomal aberrations induced by radiotherapy in lymphocytes from patients with lung cancer by Cavusoglu, Kültigin, Arica, Sukran Cakir, Bokesoy, Isik, Kurtman, Cengiz

“…In this study we tried to define incidence and types of chromosomal aberrations (CAs) caused by radiotherapy (RT) in circulating lymphocytes from patients with…”
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46, XY gonadal dysgenesis and chronic renal failure: first reported case with Frasier syndrome from Turkey by Karabulut, H G, Sayin, B D, Bökesoy, I

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Relation between the insertion/deletion polymorphism of the angiotensin I converting enzyme gene and restenosis after coronary stenting by Gürlek, A, Güleç, S, Karabulut, H, Bokesoy, I, Tutar, E, Pamir, G, Alpman, A, Toydemir, R, Aras, O, Oral, D

“…Observations with intravascular ultrasound demonstrated that neointimal hyperplasia is the predominant factor responsible for in-stent restenosis. Experimental…”
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DNMT3B mutations and DNA methylation defect define two types of ICF syndrome: DNMT3B AND TWO ICF SYNDROME TYPES by Jiang, Y.L., Rigolet, M., Bourc'his, D., Nigon, F., Bokesoy, I., Fryns, J.P., Hultén, M., Jonveaux, P., Maraschio, P., Mégarbané, A., Moncla, A., Viegas-Péquignot, E.

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Molecular alterations in the TP53 gene of peripheral blood cells of patients with chronic myeloid leukemia by Peller, Shoshana, Yona, Rivka, Kopilova, Yulia, Prokocimer, Miron, Goldfinger, Naomi, Uysal, Akin, Karabulut, Halil G., Tukun, Ajlan, Bokesoy, Isik, Tuncman, Gurol, Rotter, Varda

“…The TP53 gene has been extensively studied in patients with chronic myeloid leukemia (CML), both in chronic phase and in blast crisis. Mutations in the gene…”
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Oromandibular limb hypogenesis/Hanhart's syndrome: possible drug influence on the malformation by Bökesoy, I, Aksüyek, C, Deniz, E

“…Oromandibular limb hypogenesis/Hanhart's syndrome in a female infant with an antenatal history of meclizine hydrochloride usage during gestation is reported…”
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A case of Prader Willi syndrome with del 15 (q11-->q13) by Tunçman, G, Tükün, A, Yalaz, K, Bökesoy, I

“…Cytogenetic analysis was performed on a four-year-old girl with obesity, mental retardation, recurrent febrile convulsions and a provisional diagnosis of…”
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A case of achondrogenesis type I by BOKESOY, I, AYDM, E, GAZILERLI, S

“…A case of achondrogenesis type I was observed in a stillborn infant of consanguineous parents. Additional abnormalities included cleft palate, corneal…”
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Taste sensitivity to phenylthiocarbamide in Turkey by Bökesoy, I, Togan, I

“…The ability to taste phenylthiocarbamide (PTC) has been investigated in a group of 366 Turkish medical students. The incidence of non-tasters was 7.78% (t gene…”
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Whistling face phenotype without limb abnormalities by Toydemir, Pinar Bayrak, Toydemir, Reha, Bökesoy, Işık

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A case of SC-phocomelia syndrome with nonrandom centromere separation by Bökesoy, I, Balci, S, Bilgiç, S

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The role of genetic counseling on decisions of pregnant women aged 35 years or over regarding amniocentesis in Turkey by ILGINRUHI, H, YURURKUTLAY, N, TUKUN, A, BOKESOY, I

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