Results 31 to 40 of about 453,665 (301)

Sinus of Valsalva Aneurysm Rupture: An Unusual Presentation of Chromosome 22q11.2 Deletion: A Case Report

Case Reports in Pediatrics, 2012
Sinus of Valsalva aneurysm (SVA) is defined as a weakness in the aortic valve wall, immediately above the attachments of each of the aortic cusps. This weakness can rupture and create an aortocardiac fistula.
Eda-Cristina Abuchaibe, Nancy Dobrolet, Katherine Peicher, Roque Ventura, Elizabeth Welch   +4 more
doaj   +1 more source

Coarctation of the aorta and mild to moderate developmental delay in a child with a de novo deletion of chromosome 15(q21.1q22.2)

BMC Medical Genetics, 2006
Background Deletion of 15q21q22 is a rare chromosomal anomaly. To date, there have been nine reports describing ten individuals with different segmental losses involving 15q21 and 15q22.
Peters Sarika U, Sanders Merideth E, Sahoo Trilochan, Lalani Seema R, Bejjani Bassem A   +4 more
doaj   +1 more source

Mouse chromosomal deletions [PDF]

Genome Biology, 2000
Mouse chromosomes carrying deletions have been produced using a combination of targeted and random integration of selectable markers followed by specific excision by a recombinase.
openaire   +1 more source

Chromosome 9p deletion in clear cell renal cell carcinoma predicts recurrence and survival following surgery [PDF]

, 2014
BACKGROUND: Wider clinical applications of 9p status in clear cell renal cell carcinoma (ccRCC) are limited owing to the lack of validation and consensus for interphase fluorescent in situ hybridisation (I-FISH) scoring technique.
Bondad, J., Cunningham, J., El-Mokadem, I., Fitzpatrick, J., Fleming, S., Nabi, G., Pratt, N., Rauchhaus, P.   +7 more
core   +4 more sources

The association of gr/gr deletion in the Y chromosome and impaired spermatogenesis in Bulgarian males: a pilot study

Middle East Fertility Society Journal, 2020
Background The microdeletions of the Y chromosome are associated with a decreased number of sperm cells in the ejaculate and male infertility. One such deletion is the gr/gr, which leads to reduction of the alleles in the DAZ gene.
Mariya Levkova, Trifon Chervenkov, Lyudmila Angelova   +2 more
doaj   +1 more source

Novel maternal duplication of 6p22.3-p25.3 with subtelomeric 6p25.3 deletion: new clinical findings and genotype–phenotype correlations

Molecular Cytogenetics, 2023
Background Copy-number variants (CNVs) drive many neurodevelopmental-related disorders. Although many neurodevelopmental-related CNVs can give rise to widespread phenotypes, it is necessary to identify the major genes contributing to phenotypic ...
Liyu Zhang, Xiaoling Tie, Fengyu Che, Guoxia Wang, Ying Ge, Benchang Li, Ying Yang   +6 more
doaj   +1 more source

Deletion within the Src homology domain 3 of Bruton's tyrosine kinase resulting in X-linked agammaglobulinemia (XLA). [PDF]

, 1994
The gene responsible for X-linked agammaglobulinemia (XLA) has been recently identified to code for a cytoplasmic tyrosine kinase (Bruton's agammaglobulinemia tyrosine kinase, BTK), required for normal B cell development. BTK, like many other cytoplasmic
Chen, SH, Hagemann, T, Kwan, SP, Nilsson, L, Ochs, HD, Rawlings, DJ, Saffran, DC, Smith, CI, Vihinen, M, Witte, ON, Zhang, M, Zhu, Q   +11 more
core   +1 more source

Mosaicism for r(X) and der(X)del(X)(p11.23)dup(X)(p11.21p11.22) provides insight into the possible mechanism of rearrangement

Molecular Cytogenetics, 2008
We report a patient with a unique and complex cytogenetic abnormality involving mosaicism for a small ring X and deleted Xp derivative chromosome with tandem duplication at the break point. The patient presented with failure to thrive, muscular hypotonia,
Fang Ping, Brown Chester W, Yatsenko Svetlana A, Peacock Sandra, Ou Zhishuo, Cooper M Lance, Shchelochkov Oleg A, Stankiewicz Pawel, Cheung Sau   +8 more
doaj   +1 more source

The newfound relationship between extrachromosomal DNAs and excised signal circles

FEBS Letters, EarlyView.
Extrachromosomal DNAs (ecDNAs) contribute to the progression of many human cancers. In addition, circular DNA by‐products of V(D)J recombination, excised signal circles (ESCs), have roles in cancer progression but have largely been overlooked. In this Review, we explore the roles of ecDNAs and ESCs in cancer development, and highlight why these ...
Dylan Casey, Zeqian Gao, Joan Boyes
wiley   +1 more source

Microarray-based ultra-high resolution discovery of genomic deletion mutations [PDF]

, 2014
BACKGROUND: Oligonucleotide microarray-based comparative genomic hybridization (CGH) offers an attractive possible route for the rapid and cost-effective genome-wide discovery of deletion mutations.
Baban, D., Belfield, E., Brown, C., Gan, X., Harberd, N., Jiang, C., Mithani, A., Mott, R., Ragoussis, J.   +8 more
core   +3 more sources