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Showing 1 to 12 of 236 entries
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Spastic paraplegia associated with Addison's disease: adult variant of adreno-leukodystrophy

STEM and boys

Budka H.
GSID: wKAIeHBwcnoJ
H Budka, E Sluga, WD Heiss - Journal of neurology, 1976 - Springer

… CNS lesions consisted in incomplete demyelination of long tracts of brain stem and spinal cord with … Several differences to “classical” ALD occurring in young boys are stressed: the …

Different chromosome Y abnormalities in a case with short stature.

Journal of pediatric genetics

Balkan M, Fidanboy M, Özbek MN, Alp MN, Budak T.
PMID: 27625830
J Pediatr Genet. 2012 Dec;1(4):239-42. doi: 10.3233/PGE-12038.

We report a case with different chromosome Y abnormalities. Case was an 11-year-old boy, who was diagnosed with short stature, referred to laboratory of human medical genetics laboratory for genetic evaluation. Chromosomal analysis of the case was carried out...

A case of complete tetraploidy in amniocentesis with normal karyotype in subsequent cordocentesis.

Journal of pediatric genetics

Balkan M, Fidanboy M, İsi H, Akbaş H, Kalkanli S, Alp MN, Budak T.
PMID: 27625831
J Pediatr Genet. 2012 Dec;1(4):243-6. doi: 10.3233/PGE-12039.

We report a case of complete tetraploidy in amniotic fluid culture obtained at 17 wk of pregnancy. Amniocentesis was performed in this pregnancy because of a high-risk maternal serum screening result and abnormal ultrasound findings. Amniotic fluid was cultured...

Efficacy of HCV treatment in Poland at the turn of the interferon era - the EpiTer study.

Clinical and experimental hepatology

Flisiak R, Pogorzelska J, Berak H, Horban A, Orłowska I, Simon K, Tuchendler E, Madej G, Piekarska A, Jabłkowski M, Deroń Z, Mazur W, Kaczmarczyk M, Janczewska E, Pisula A, Smykał J, Nowak K, Matukiewicz M, Halota W, Wernik J, Sikorska K, Mozer-Lisewska I, Rozpłochowski B, Garlicki A, Tomasiewicz K, Krzowska-Firych J, Baka-Ćwierz B, Kryczka W, Zarębska-Michaluk D, Olszok I, Boroń-Kaczmarska A, Sobala-Szczygieł B, Szlauer B, Korcz-Ondrzejek B, Sieklucki J, Pleśniak R, Ruszała A, Postawa-Kłosińska B, Citko J, Lachowicz-Wawrzyniak A, Musialik J, Jezierska E, Dobracki W, Dobracka B, Hałubiec J, Krygier R, Strokowska A, Chomczyk W, Witczak-Malinowska K.
PMID: 28856278
Clin Exp Hepatol. 2016 Dec;2(4):138-143. doi: 10.5114/ceh.2016.63870. Epub 2016 Nov 28.

THE AIM OF THE STUDY: Was to analyze the efficacy achieved with regimens available for chronic hepatitis C (CHC) in Poland between 2013 and 2016.MATERIAL AND METHODS: Data were collected from 29 centers and included 6786 patients with available...

From Genetics to Functional Genomics: Improvement in Drought Signaling and Tolerance in Wheat.

Frontiers in plant science

Budak H, Hussain B, Khan Z, Ozturk NZ, Ullah N.
PMID: 26635838
Front Plant Sci. 2015 Nov 19;6:1012. doi: 10.3389/fpls.2015.01012. eCollection 2015.

Drought being a yield limiting factor has become a major threat to international food security. It is a complex trait and drought tolerance response is carried out by various genes, transcription factors (TFs), microRNAs (miRNAs), hormones, proteins, co-factors, ions,...

Spectrum of alpha-globin gene mutations among premarital Baluch couples in southeastern Iran.

International journal of hematology-oncology and stem cell research

Miri-Moghaddam E, Nikravesh A, Gasemzadeh N, Badaksh M, Rakhshi N.
PMID: 26261699
Int J Hematol Oncol Stem Cell Res. 2015 Jul 01;9(3):138-42.

BACKGROUND: Alpha thalassemia (α-thal) is one of the most common hemoglobinopathies worldwide. The aim of this study was to investigate the spectrum of α-thal mutations among premarital Baluch couples in southeastern Iran.SUBJECTS AND METHODS: We assessed 1215 individuals by...

MRI features of Binswanger's disease predict prognosis and associated pathology.

Annals of clinical and translational neurology

Akiguchi I, Budka H, Shirakashi Y, Woehrer A, Watanabe T, Shiino A, Yamamoto Y, Kawamoto Y, Krampla W, Jungwirth S, Fischer P.
PMID: 25493272
Ann Clin Transl Neurol. 2014 Oct;1(10):813-21. doi: 10.1002/acn3.123. Epub 2014 Oct 06.

OBJECTIVE: To identify the prevalence of MRI features of Binswanger's disease (BD), specifically MRI with diffuse white matter lesions and scattered multiple lacunes (BD-MRI), and to describe neurological features and pathological outcomes of a community-based cohort study.METHODS: Of 697...

Effect of mixing techniques on bacterial attachment and disinfection time of polyether impression material.

European journal of dentistry

Guler U, Budak Y, Ruh E, Ocal Y, Canay S, Akyon Y.
PMID: 24966729
Eur J Dent. 2013 Sep;7:S054-S059. doi: 10.4103/1305-7456.119074.

OBJECTIVE: The aim of this study was 2-fold. The first aim was to evaluate the effects of mixing technique (hand-mixing or auto-mixing) on bacterial attachment to polyether impression materials. The second aim was to determine whether bacterial attachment to...

Reducing chronic visuo-spatial neglect following right hemisphere stroke through instrument playing.

Frontiers in human neuroscience

Bodak R, Malhotra P, Bernardi NF, Cocchini G, Stewart L.
PMID: 24966827
Front Hum Neurosci. 2014 Jun 11;8:413. doi: 10.3389/fnhum.2014.00413. eCollection 2014.

Unilateral visuo-spatial neglect is a neuropsychological syndrome commonly resulting from right hemisphere stroke at the temporo-parietal junction of the infero-posterior parietal cortex. Neglect is characterized by reduced awareness of stimuli presented on patients' contralesional side of space. Inspired by...

Differential expression of seven conserved microRNAs in response to abiotic stress and their regulatory network in Helianthus annuus.

Frontiers in plant science

Ebrahimi Khaksefidi R, Mirlohi S, Khalaji F, Fakhari Z, Shiran B, Fallahi H, Rafiei F, Budak H, Ebrahimie E.
PMID: 26442054
Front Plant Sci. 2015 Sep 17;6:741. doi: 10.3389/fpls.2015.00741. eCollection 2015.

Biotic and abiotic stresses affect plant development and production through alternation of the gene expression pattern. Gene expression itself is under the control of different regulators such as miRNAs and transcription factors (TFs). MiRNAs are known to play important...

Differential coreceptor expression allows for independent evolution of non-syncytium-inducing and syncytium-inducing HIV-1.

The Journal of clinical investigation

van Rij RP, Blaak H, Visser JA, Brouwer M, Rientsma R, Broersen S, de Roda Husman AM, Schuitemaker H.
PMID: 11120764
J Clin Invest. 2000 Dec;106(12):1569. doi: 10.1172/jci7953c1.

No abstract available.

Primary Angiitis of the Central Nervous System: Unusual Clinical Presentation.

The International journal of angiology : official publication of the International College of Angiology, Inc

Ilhan A, Budak F.
PMID: 10629320
Int J Angiol. 2000 Jan;9(1):23-26. doi: 10.1007/BF01616325.

Primary angiitis of the central nervous system (PACNS) is a form of vasculitis restricted to the CNS. Most patients with PACNS present with focal neurologic deficits suggesting stroke or with a syndrome of headache and confusion. Less commonly, seizures,...

Showing 1 to 12 of 236 entries