نتایج جستجو برای: q35

تعداد نتایج: 269  

Journal: :Nucleic acids research 1992
D L Saltman G M Dolganov B S Pearce S S Kuo P J Callahan M L Cleary M Lovett

A method is described for the isolation of chromosome region specific cosmids. The 5q35 region of the long arm of human chromosome 5 was microdissected, digested with MboI, ligated to oligonucleotide adaptors, amplified by the polymerase chain reaction and cloned into a plasmid vector. Inserts which did not contain highly repetitive sequences were used to screen a chromosome 5 cosmid library by...

Journal: :Blood 2006
Xin-Ying Su Véronique Della-Valle Isabelle Andre-Schmutz Claudie Lemercier Isabelle Radford-Weiss Paola Ballerini Michel Lessard Marina Lafage-Pochitaloff Francine Mugneret Roland Berger Serge P Romana Olivier A Bernard Virginie Penard-Lacronique

The t(5;14)(q35;q32) chromosomal translocation is specifically observed in up to 20% of childhood T-cell acute lymphoblastic leukemia (T-ALL). It affects the BCL11B/CTIP2 locus on chromosome 14 and the RANBP17-TLX3/HOX11L2 region on chromosome 5. It leads to ectopic activation of TLX3/HOX11L2. To investigate the reasons of the association between t(5;14) and T-ALL, we isolated the translocation...

2008

Fusion genes: Ewing sarcoma: t(11;22)(q24;q12) EWS-FLI1 t(21;22)(q22;q12) EWS-ERG t(7;22)(p22;q12) EWS-ETV1 others FUS-ERG, EWS-FEV, Desmoplastic SRCT: t(11;22)(p13;q12) EWS-WT1 Extraskel myxoid chondrosarc: t(19;22)(q22;q12) EWS-TEC(CHN) Malignant mesenchymoma: t(11;22)(q24;q12) EWS-FLI1 Alveolar rhabdomyosarcoma: t(2;13)(q35;q14) PAX3-FKHR t(1;13)(p36;q14) PAX7-FKHR Myxoid round cell liposarc...

2000
Maria Grazia Narducci Laura Virgilio Masaharu Isobe Antonella Stoppacciaro Raffaella Elli Massimo Fiorilli Maurizio Carbonari Anna Antonelli Luciana Chessa Carlo Maria Croce Giandomenico Russo

The TCLI oncogene on human chromosome 14q32.1 is involved in chromosome translocations [t(14;14)(qll;q32.1) and t(7;14)(q35;q32.1)1 and inversions [inv14(qll;q32.1)] with TCRaIP loci in T-cell leukemias, such as T-prolymphocytic (T-PLL). It is also involved in T-acute and -chronic leukemias arising in cases of ataxia-telangiectasia (AT), an immunodeficiency syndrome. Similar chromosomal rea...

2012
Fabrizio Tabbó Antonella Barreca Roberto Piva Giorgio Inghirami

The discovery by Morris et al. (1994) of the genes contributing to the t(2;5)(p23;q35) translocation has laid the foundation for a molecular based recognition of anaplastic large cell lymphoma and highlighted the need for a further stratification of T-cell neoplasia. Likewise the detection of anaplastic lymphoma kinase (ALK) genetic lesions among many human cancers has defined unique subsets of...

Journal: :Cancer research 1994
R J Davis C M D'Cruz M A Lovell J A Biegel F G Barr

Although the t(2;13)(q35;q14) translocation has been found in most cases of the pediatric cancer alveolar rhabdomyosarcoma, several cases have been reported with a variant t(1;13)(p36;q14) translocation. Our findings indicate that this t(1;13) rearranges PAX7 on chromosome 1 and fuses it to FKHR on chromosome 13. This fusion results in a chimeric transcript consisting of 5' PAX7 and 3' FKHR reg...

2006
Marsha C. Kinney Harald Stein Karl Lennert

While evaluating a new antibody Ki-1 directed against an epitope on Reed-Sternberg cells, Harald Stein, Karl Lennert and others in Kiel, West Germany recognized a unique lymphoma composed of pleomorphic large cells with strong expression of the antigen detected by the Ki-1 antibody (now designated as CD30). This “Ki-1 lymphoma” had a prominent sinus growth pattern and was previously misdiagnose...

ژورنال: :genetics in the 3rd millennium 0
فرخنده بهجتی farkhondeh behjati assistant professor of medical genetics, genetics research center, university of social welfareاستادیار و عضو هیأت علمی مرکز تحقیقات ژنتیک، دانشگاه علوم بهزیستی و توانبخشی، تهران، ایران ایمان باقری زاده iman bagherizadeh فیلیپوس پاتسالیس philips patsalis یوسف شفقتی yousef shafeghati

یک دختر 29 ساله، با ناهنجاری های متعدد ظاهری، شامل قد کوتاه، پرده گردنی و عقب ماندگی ذهنی خفیف تا متوسط، به مرکز تحقیقات ژنتیک ارجاع داده شد. پدر و مادر خویشاوند بودند. مادر سابقه دو بار سقط داشت و یک پسر خانواده نیز در 12 سالگی فوت شده بود. این فرزند دارای علائمی مشابه پروباند و نیز مشکلات قلبی مادرزادی بود. خانواده دارای یک پسر 27 ساله سالم نیز بودند. بیمار، همانند مادر و برادر سالم، دارای جا...

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