نتایج جستجو برای: q13

تعداد نتایج: 1009  

Journal: :Human molecular genetics 1999
S L Christian J A Fantes S K Mewborn B Huang D H Ledbetter

The most common etiology for Prader-Willi syndrome and Angelman syndrome is de novo interstitial deletion of chromosome 15q11-q13. Deletions and other recurrent rearrangements of this region involve four common 'hotspots' for breakage, termed breakpoints 1-4 (BP1-BP4). Construction of an approximately 4 Mb YAC contig of this region identified multiple sequence tagged sites (STSs) present at bot...

2012
Ivyna Bong Pau Ni Ng Ching Ching Chang Kian Meng Zubaidah Zakaria

More than 50% of myeloma cases have normal karyotypes under conventional cytogenetic analysis due to low mitotic activity and content of plasma cells in the bone marrow. We used a polymerase chain reaction (PCR)-based translocation detection assay to detect BCL1/JH t(11;14) (q13;q32) in 105 myeloma patients, and randomly selected 8 translocation positive samples for array comparative genomic hy...

Journal: :The Journal of neuroscience : the official journal of the Society for Neuroscience 2010
Stormy J Chamberlain Marc Lalande

Introduction Harry Angelman, an English pediatrician, reported three cases of “Puppet Children” in 1965 (Angelman, 1965). These individuals displayed severe intellectual disability, ataxia, absent speech, jerky arm movements and bouts of inappropriate laughter. More cases were described as “Happy Puppet” syndrome (Bower and Jeavons, 1967), and additional consensus diagnostic criteria for what i...

2009
Karen N. Leung Roxanne O. Vallero Amanda J. DuBose James L. Resnick Janine M. LaSalle

Imprinting, non-coding RNA and chromatin organization are modes of epigenetic regulation that modulate gene expression and are necessary for mammalian neurodevelopment. The only two known mammalian clusters of genes encoding small nucleolar RNAs (snoRNAs), SNRPN through UBE3A(15q11-q13/7qC) and GTL2(14q32.2/12qF1), are neuronally expressed, localized to imprinted loci and involved in at least f...

Journal: :Atlas of Genetics and Cytogenetics in Oncology and Haematology 2011

Journal: :Proceedings of the National Academy of Sciences of the United States of America 1971
I Haruna Y H Ito K Yamane T Miyake T Shiba I Watanabe

New RNA replicases were isolated and purified from Escherichia coli Q13 infected with SP or FI phages showing different serological properties. These replicases showed a template specificity different from that of Qbeta replicase.

Journal: :Atlas of Genetics and Cytogenetics in Oncology and Haematology 2020

2011
Merlin G Butler

Prader-Willi syndrome (PWS) is a complex neurodevelopmental disorder due to errors in genomic imprinting with loss of imprinted genes that are paternally expressed from the chromosome 15q11-q13 region. Approximately 70% of individuals with PWS have a de novo deletion of the paternally derived 15q11-q13 region in which there are two subtypes (i.e., larger Type I or smaller Type II), maternal dis...

2014
Mohamad Khawandanah Bradley Gehrs Shibo Li Jennifer Holter Chakrabarty Mohamad Cherry

Background. We hereby describe what we believe to be the first reported case of t (14; 15) (q32; q13) associated with acute myeloid leukemia (AML). Methods. PubMed, Embase, and OVID search engines were used to review the related literature and similar published cases. Case. A47-year-old female presented in December 2011 with AML (acute myelomonocytic leukemia) with normal cytogenetics; molecula...

Journal: :The hematology journal : the official journal of the European Haematology Association 2000
X Troussard H Avet-Loiseau M Macro M P Mellerin M Malet M Roussel B Sola

INTRODUCTION Chromosomal abnormalities are detected in 50 to 70% of patients with multiple myeloma (MM). By conventional cytogenetic analysis, a t(11;14)(q13;q32) is observed at a frequency of 3 to 14%. MATERIALS AND METHODS To demonstrate a cyclin D1 expression in MM patients or MM cell lines, 14 patients with multiple myeloma (MM) and nine human multiple myeloma cell lines (HMCL) were scree...

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