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12/26/2019 9:54:37 AM | Browse: 498 | Download: 875
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Received |
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2019-09-08 20:07 |
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Peer-Review Started |
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2019-09-08 20:07 |
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To Make the First Decision |
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2019-10-24 08:52 |
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Return for Revision |
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2019-10-25 10:35 |
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Revised |
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2019-10-31 01:59 |
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Second Decision |
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2019-11-13 11:30 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Executive Editor-in-Chief |
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2019-11-13 23:39 |
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Articles in Press |
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2019-11-13 23:39 |
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Publication Fee Transferred |
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Edit the Manuscript by Language Editor |
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Typeset the Manuscript |
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2019-11-19 02:53 |
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Publish the Manuscript Online |
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2019-12-06 11:43 |
| ISSN |
2307-8960 (online) |
| Open Access |
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/ |
| Copyright |
© The Author(s) 2019. Published by Baishideng Publishing Group Inc. All rights reserved. |
| Article Reprints |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
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| Permissions |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
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| Publisher |
Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA |
| Website |
http://www.wjgnet.com |
| Category |
Medicine, Research & Experimental |
| Manuscript Type |
Case Report |
| Article Title |
Diagnosis of Laron syndrome using monoplex-polymerase chain reaction technology with a whole-genome amplification template: A case report
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| Manuscript Source |
Unsolicited Manuscript |
| All Author List |
Adina Neumann, Miguel Ángel Alcantara-Ortigoza, Ariadna González-del Ángel, Felipe Camargo-Diaz and Esther López-Bayghen |
| Funding Agency and Grant Number |
| Funding Agency |
Grant Number |
| Conacyt |
23179 |
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| Corresponding Author |
Esther López-Bayghen, MSc, PhD, Academic Research, Professor, Senior Researcher, Senior Scientist, Departamento de Toxicología, Centro de Investigación y de Estudios Avanzados del Instituto Politécnico Nacional (CINVESTAV-IPN), Avenida Instituto Politécnico Nacional 2508, San Pedro Zacatenco, Mexico City 07360, Mexico. ebayghen@cinvestav.mx |
| Key Words |
Growth hormone insensitivity; Growth hormone receptor mutations; Intragenic deletions; Molecular diagnosis; Embryo diagnosis; Laron syndrome |
| Core Tip |
Laron syndrome (LS) is a low prevalent, autosomal recessive hereditary disorder affecting the Jewish population; however, when LS is expected, genetic testing is required. This case study demonstrates that by using monoplex-polymerase chain reaction (PCR) during Pre-implantation Genetic Diagnosis, we were able to accurately identify mutations in the growth hormone receptor (GHR). Here, we show that, in Mexico, the cause of LS was the deletion of the exons 5 and 6 in the GHR gene; moreover, we were able to select an embryo, which produced an LS negative fetus. This study provides evidence that monoplex-PCR can serve as an excellent tool to detect diseases during in vitro fertilization. |
| Publish Date |
2019-12-06 11:43 |
| Citation |
Neumann A, Alcántara-Ortigoza MÁ, González-del ÁngeA, Camargo-Diaz F, López-Bayghen E. Diagnosis of Laron syndrome using monoplex-polymerase chain reaction technology with a whole-genome amplification template: A case report. World J Clin Cases 2019; 7(23): 4029-4035 |
| URL |
https://www.wjgnet.com/2307-8960/full/v7/i23/4029.htm |
| DOI |
https://dx.doi.org/10.12998/wjcc.v7.i23.4029 |
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