نتایج جستجو برای: yunis

تعداد نتایج: 53  

2004

6 Littlefield JW. Genes, chromosomes and cancer. J Pediatr 1984;104:489-94. 7 Faulkner KW, Holmes LB, Steinfeld A, Abroms IF. A child with 18qsyndrome and cerebellar astrocytoma. J Pediatr 1983;103:600-2. 8 Yunis JJ, Ramsay N. Retinoblastoma and subband deletion of chromosome 13. Am J Dis Child 1978;132:161-3. 9 Riccardi VM, Sujansky E, Smith AC, Francke V. Chromosomal imbalance in the aniridia...

2006
MARGARET GARSON

There have been relatively few reports of individuals with double autosomal trisomy (Gagnon et al., 1961; Becker, Burke, and Albert, 1963; Hsu et al., 1965; Marks, Wiggins, and Spector, 1967). There have been rather more published accounts of individuals showing trisomy for one autosome and an additional chromosome in the sex chromosome complement as well. Of these, only those with the sex chro...

Journal: :Blood 1965
T KUROYANAGI M SAITO A KURISU

p ATIENTS with acquired auto-immune hemolytic anemia associated with a decreased red cell production have been reported by several authors.1-5 We have observed such cases among patients with acquired auto-immune hemolytic anemia due to incomplete antibodies of the warm variety. There have been many reports6 ’ suggesting the sensitization and damages of erythroblasts in the bone marrow by anti-e...

Journal: :European heart journal 2000
D Katritsis

[1] Herskowitz A, Tzyy-Choou WU, Willoughby SB et al. Myocarditis and cardiotropic viral infection associated with severe left ventricular dysfunction in late-stage infection with human immunodeficiency virus. J Am Coll Cardiol 1994; 24: 1025–32. [2] Monsuez JJ, Kinney EL, Vittecoq D et al. Comparison among acquired immune deficiency syndrome patients with and without clinical evidence of cardi...

Journal: :Chest 1974
R Llamas

468 ROBERTO LLAMAS CHEST, 65: 4, APRIL, 1974 deiphia, J B Lippincott Go, 1967, pp 615-620 8 Kepmson RL, Kyriakos M : Fibroxanthosarcoma of the soft tissues : a type of malignant fibrous histiocytoma. Cancer 29:961-976, 1972 9 Fisher ER, Vuzevski VD: Cytogenesis of schwannoma ( neurilemmoma ) neurofibroma, dermatofibroma and dermatofibrosarcoma as revealed by electron microscopy. Am J Clin Patho...

Journal: :Journal of bacteriology 1961
R S Berk E L Nelson

The complex biochemical interactions which occur between parasites and their host cells require elucidation for a clear understanding of how an infectious process develops. Whether the reactions between microorganisms and tissues occur directly or are mediated through secondary mechanisms has been the subject of considerable discussion (Sanford, Barnett, and Gott, 1960; Gilbert, 1960; Atkins, 1...

Journal: :Neurology 2014
Stéphanie Baulac Guy M Lenk Béatrice Dufresnois Bouchra Ouled Amar Bencheikh Philippe Couarch Julie Renard Peter A Larson Cole J Ferguson Eric Noé Karine Poirier Christine Hubans Stéphanie Ferreira Renzo Guerrini Reda Ouazzani Khalid Hamid El Hachimi Miriam H Meisler Eric Leguern

OBJECTIVE The aim of this study was to identify the causal gene in a consanguineous Moroccan family with temporo-occipital polymicrogyria, psychiatric manifestations, and epilepsy, previously mapped to the 6q16-q22 region. METHODS We used exome sequencing and analyzed candidate variants in the 6q16-q22 locus, as well as a rescue assay in Fig4-null mouse fibroblasts and immunohistochemistry of...

2015
Ilaria Vaccari Antonietta Carbone Stefano Carlo Previtali Yevgeniya A. Mironova Valeria Alberizzi Roberta Noseda Cristina Rivellini Francesca Bianchi Ubaldo Del Carro Maurizio D'Antonio Guy M. Lenk Lawrence Wrabetz Roman J. Giger Miriam H. Meisler Alessandra Bolino

Mutations of FIG4 are responsible for Yunis-Varón syndrome, familial epilepsy with polymicrogyria, and Charcot-Marie-Tooth type 4J neuropathy (CMT4J). Although loss of the FIG4 phospholipid phosphatase consistently causes decreased PtdIns(3,5)P₂ levels, cell-specific sensitivity to partial loss of FIG4 function may differentiate FIG4-associated disorders. CMT4J is an autosomal recessive neuropa...

2006
John Manuel

man, 1965; Zamcheck & Martin, 1981), pancreatic oncofetal antigen (POA) (Banwo et al., 1974; Nishida et al., 1985), pancreatic carcinoma associated antigen (PCAA) (Schultz & Yunis, 1979; Shimano et al., 1981), DU-PAN 2 (Metzgar et al., 1984; Sawabu et al., 1986) and CA19-9 (Koprowski et al., 1979; Magnani et al., 1983; Haglund et al., 1986). As most of the marker antibodies so far characterised...

Journal: :The Journal of neuroscience : the official journal of the Society for Neuroscience 2015
Jianlong Zou Bo Hu Sezgi Arpag Qing Yan Audra Hamilton Yuan-Shan Zeng Carlos G Vanoye Jun Li

Loss of function of FIG4 leads to Charcot-Marie-Tooth disease Type 4J, Yunis-Varon syndrome, or an epilepsy syndrome. FIG4 is a phosphatase with its catalytic specificity toward 5'-phosphate of phosphatidylinositol-3,5-diphosphate (PI3,5P2). However, the loss of FIG4 decreases PI3,5P2 levels likely due to FIG4's dominant effect in scaffolding a PI3,5P2 synthetic protein complex. At the cellular...

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