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Translocation breakpoints of chromosome 1 in male carriers: clinical features and implications for genetic counseling
Authors: R.X. Wang, H.G. Zhang, Y. Pan, S. Chen, F.G. Yue, D.L. Zhu and R.Z. Liu
Reciprocal translocation is closely associated with male infertility and recurrent miscarriages. Balanced reciprocal translocations associated with reproductive failures are predominantly observed on chromosome 1. Additionally, infertile male patients present a number of breakpoints throughout chromosome 1. A translocation bre.. Read More»
- Genet. Mol. Res. 15(4):
- gmr.15048707
- DOI:
- 10.4238/gmr.15048707
Chromosome 7 translocation breakpoints in male carriers: clinical features and implications for genetic counseling
Authors: R.X. Wang, H.G. Zhang, Y. Pan, J.H. Zhu, F.G. Yue, L.T. Xue and R.Z. Liu
Balanced reciprocal translocations are associated with reproductive failure. Some reciprocal translocation carriers exhibit azoospermia or oligozoospermia, and an association exists between these chromosomal abnormalities and recurrent abortion. Previous reports have indicated the involvement of chromosome 7 translocations in .. Read More»
- Genet. Mol. Res. 15(4):
- gmr15048948
- DOI:
- 10.4238/gmr15048948
Conventional and contrast-enhanced ultrasound assessment of craniocerebral gunshot wounds
Authors: D. Deng, G. Dan, J. Tao, X.-B. Wu, Z. Chen, M. Chang, M.-S. Liao and F. He
This study aimed to investigate the characteristic features of craniocerebral gunshot wounds by conventional ultrasound (CUS) and evaluate the efficacy of contrast-enhanced ultrasound (CEUS) in differentiation of tissue condition in wounds. Twenty crossbreed dogs (treatment: N = 15; control: N = 5) were used in the study. Pipe-shaped hyperechoes of varyin.. Read More»
- Genet. Mol. Res. 14(2):
- http://dx.doi.org/2015.April.13.14
- DOI:
- http://dx.doi.org/10.4238/2015.April.13.14
Balanced reciprocal translocation at amniocentesis: cytogenetic detection and implications for genetic counseling
Authors: H.G. Zhang, X.Y. Zhang, H.Y. Zhang, T. Tian, S.B. Xu and R.Z. Liu
Balanced translocation is a common structural chromosomal rearrangement in humans. Carriers can be phenotypically normal but have an increased risk of pregnancy loss, fetal death, and the transmission of chromosomal abnormalities to their offspring. Existing prenatal screening technologies and diagnostic procedures fail to detect balanced translocation, s.. Read More»
- Genet. Mol. Res. 15(3):
- gmr.15038556
- DOI:
- 10.4238/gmr.15038556
Effect of overexpression of citrus 9-cis-epoxycarotenoid dioxygenase 3 (CsNCED3) on the physiological response to drought stress in transgenic tobacco
Authors: A.M. Pedrosa, L.C. Cidade, C.P.S. Martins, A.F. Macedo, D.M. Neves, F.P. Gomes, E.I.S. Floh, M.G.C. Costa
9-cis-epoxycarotenoid dioxygenase (NCED) encodes a key enzyme in abscisic acid (ABA) biosynthesis. Little is known regarding the regulation of stress response by NCEDs at physiological levels. In the present study, we generated transgenic tobacco overexpressing an NCED3 ortholog from citrus (CsNCED3) and investigated its relev.. Read More»
- Genet. Mol. Res. 16(1):
- gmr16019292
- DOI:
- 10.4238/gmr16019292
Reproductive outcome of a case with familial balanced translocation t(3;6): implications for genetic counseling
Authors: H.-G. Zhang, X.-Y. Liu, Y. Hou, S. Chen1, S. Deng and R.-Z. Liu
Although it is known that parental carriers of structural chromosomal rearrangements are associated with recurrent pregnancy loss, subsequent natural pregnancies remain possible. We examined the reproductive outcome of a familial balanced translocation with t(3;6)(q12;q27). Karyotyping of the proband revealed 46,XY chromosomes with the balanced t.. Read More»
- Genet. Mol. Res. 14(1):
- http://dx.doi.org/2015.March.31.11
- DOI:
- http://dx.doi.org/10.4238/2015.March.31.11
A discussion of the optimal treatment of intracranial aneurysm rupture in elderly patients
Authors: C. Liu
This study aimed to find an optimal treatment for intracranial aneurysm rupture in elderly patients. We adopted endovascular embolization and combined it with mini-invasive aspiration, vascular stenosis stenting, and rehabilitation training to treat 13 elderly patients with intracranial aneurysm rupture. When the 13 patients w.. Read More»
- Genet. Mol. Res. 13(3):
Translocation breakpoints of chromosome 4 in male carriers: clinical features and implications for genetic counseling
Authors: H.G. Zhang, R.X. Wang, Y. Pan, J.H. Zhu, L.T. Xue, X. Yang and R.Z. Liu
Cytogenetic analysis remains a powerful and cost-effective technology, and has wide applicability in genetic counseling for infertile males. Chromosomal rearrangements are thought to be one of the major genetic factors that influence male infertility. Some carriers with balanced reciprocal translocation have been identified as.. Read More»
- Genet. Mol. Res. 15(4):
- gmr15049088
- DOI:
- 10.4238/gmr15049088
Role of XRCC1 gene polymorphisms in non-small cell lung cancer cisplatin-based chemotherapy, and their effect on clinical and pathological characteristics
Authors: H.F. Liu, J.S. Liu, J.H. Deng and R.R. Wu
Non-small cell lung cancer (NSCLC) is the most common cancer globally. The XRCC1 protein interacts with ligase and poly(ADP-ribose) polymerase to repair cisplatin-induced DNA damage. The authors of previous studies have reported XRCC1 Arg399Gln, Arg280His, and Arg194Trp polymorphisms and advanced NSCLC prognosis, but the resul.. Read More»
- Genet. Mol. Res. 15(4):
- gmr15049084
- DOI:
- 10.4238/gmr15049084
A rare case of trisomy 11q23.3-11q25 and trisomy 22q11.1-22q11.21
Authors: P.-S. Zou, H.-F. Li, L.-S. Chen, M. Ma1, X.-H. Chen, D. Xue and D.-H. Cao
Partial duplication of the long arm of chromosome 11 and the partial trisomy of 22q are uncommon karyotypic abnormalities. Here, we report the case of a 6-year-old girl who showed partial trisomy of 11q and 22q, as a result of a maternal balanced reciprocal translocation (11;22), and exhibited dysmorphic features, severe intel.. Read More»
- Genet. Mol. Res. 15(2):
- gmr.15028140
- DOI:
- 10.4238/gmr.15028140