Partial SHOX duplications associated with various cases of congenital uterovaginal aplasia (MRKH syndrome): A tangible evidence but a puzzling mechanism
The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is the most severe form of congenital malformation of the inner female reproductive tract. It is diagnosed as such when the uterus, the upper vagina and optionally the Fallopian tubes are absent. It accounts for approximately 1 in 5000 live-born females and has been classified in two subtypes: type 1 in the presence of isolated uterovaginal aplasia and type 2 when associated in various combinations with extragenital malformations of the kidneys, skeleton, heart and auditory system. Most cases of MRKH syndrome are sporadic, although a significant number of many familial cases have been reported to date. Despite numerous studies, the genetics of the syndrome remains largely unknown and appears to be heterogeneous: chromosomal abnormalities and some candidate gene variants appear to be associated with a few cases; others have been suggested but not yet confirmed. To date, mainly the GREB1L gene appears to be a serious candidate. Among the remaining hypotheses, the controversial contribution of partial duplications of the SHOX gene is still puzzling, as the deficiency of this gene is a major cause of skeletal adysplasia syndromes. We have attempted to resolve this controversy in a study of 60 MRKH cases. Our results tend to show that SHOX duplications can be the origin of a genetic mechanism responsible for MRKH syndrome.
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Alejandro Munoz
Dear colleagues! I am satisfied with our cooperation with you. Your service is at a high level. I hope for a future relationship. Let me know if I can get a paper version of the magazine with my articles from you. I see them on the Internet.
Aksenov V.V
"This is my first time publishing with the journal/publisher. I am impressed at the promptness of the publishing staff and the professionalism displayed. Thank you for encouraging young researchers like me!"
Ajite Kayode
I want to thank you for our collaboration. You were fast and effective with a positive spirit of teamwork.
I am truly excited from our collaboration. You were like always fast, efficient and accurate.
I hope that in the near future we will collaborate again.
Aikaterini Solomou
In my opinion, you provide a very fast and practical service.
Ahmet Eroglu
Great, We are too comfortable with the process including the peer review process and quality. But, the journal should be indexed in different databases such scopus.
Afework Edmealem
We really appreciate your efforts towards our article, the professional way you handle our request for exemption from charges.
It was a great honor for us to publish in your magazine.
Achraf elbakkaly
I really liked the ease of submitting my manuscript in the HSPI journal. Further, the peer review was timely completed and I was communicated the final decision on my manuscript within 10 days of submission which is really appreciable. I strongly recommend all the scientists and researchers to submit their work in this journal”
Abu Bashar
My candid opinion is that the service you render is second to none. My favourite part is the prompt response to issue, really i value that.
Abiodun Akanbi Adeogun
Thank you very much for accepting our manuscript in your journal “International Journal of Clinical Virology”. We are very thankful to the esteemed team for timely response and quick review process. The editorial team of International Journal of Clinical Virology is too cooperative and well-mannered during the publication process. We are hopeful to publish many quality papers in your journal and I suggest the International Journal of Clinical Virology to all of my colleagues, researchers and friends to publish their research here.
Abdul Baset
I, Muhammad Sarwar Khan, am serving as Editor on Archives of Biotechnology and Biomedicine (ABB). I submitted an editorial titled, 'Edible vaccines to combat Infectious Bursal Disease of poultry' for publication in ABB. After submitting the manuscript; the services rendered by the management and technical personnel to handle and process the manuscript were marvelous. Plagiarism report was shared with me with complements before reviewers' comments, All steps including article processing and service charges were well taken care of keeping in view the author's interest/preference. All together, it was an encouraging and wonderful experience working with ABB personnel.
University of Agriculture, Pakistan
Muhammad Sarwar Khan
Your journal has accomplished its intended mission of providing very effective and efficient goals in dealing with submissions, conducting the reviewing process and in publishing accepted manuscripts in a timely manner. Keep up the great work and services that you provide.
University of Jacqmar, Inc., USA
John St. Cyr
I am to express my view that Heighten Science Publications are reliable quick even after peer review process. I hope and wish the publications will go a long way in disseminating science to many interested in scientific research.
College of Fisheries, CAU(I), Tripura, India
Ajit Kumar Roy
The Journal Clinical Nephrology provides a good opportunity for readers to stay updated in the field of clinical nephrology. Additionally - it provides a good opportunity for authors to publish their work.
1. Publication of the accepted manuscripts is sufficiently rapid.
2. The trust factor between the journal and me, as an author, is very important and well preserved.
3. Peer review process very rapid and effective.
Assaf Harofeh Medical Center, Israel
Leonid Feldman
In 2017, I submitted a manuscript to the journal Archives of Biotechnology and Biomedicine belonging to Heighten Science Publications Corporation. Within one week I already received the response from the editor. All processing steps were really fast so in terms of a speedy publication I can particularly recommend the journal Archives of Biotechnology and Biomedicine. The responsible contact person of the journal was always available, which gives a trustworthy impression to the author. Also the peer review process was clear and constructive. So from my experience with Heighten Science Publications Corporation I can recommend publishing there.
University of Tubingen, Germany
Yvonne Mast
We thank to the heighten science family, who speed up the publication of our article and provide every support.
Mehmet Besir
The services of the journal were excellent. The most important thing for an author is the speed of the peer review which was really fast here. They returned in a few days and immediately replied all of my questions. I want to refer this platform to all scholars.
Many thanks.
Eastern Mediterranean University, Cyprus
Zehra Guchan TOPCU
Thank you for your attitude and support. I am sincerely grateful to you and the entire staff of the magazine for the high professionalism and fast quality work. Thank you very much!
USA
Igor Klepikov
Thank you and your company for effective support of authors which are very much dependable on the funds gambling for science in the different countries of our huge and unpredictable world. We are doing our work and should rely on a teams like Galley Proof-HSPC. Great success to all of you for the 2019th!
Be well all the year long.
Russia
Victor V Apollonov
The editorial process was quickly done. The galley proof was sent within a week after being accepted for publication.
The editorial team was very helpful and responded promptly.
India
Rohit Kulshrestha
Publishing with the International Journal of Clinical and Experimental Ophthalmology was a rewarding experience as review process was thorough and brisk. Their visibility online is second to none as their published articles appear in all search engines. I will encourage researchers to publish with them.
University of Port Harcourt Teaching Hospital, Nigeria
Dr. Elizabeth A Awoyesuku
"It was a pleasure to work with the editorial team of the journal on the submission of the manuscript. The team was professional, fast, and to the point".
NC A&T State University, USA
Moran Sciamama-Saghiv
Submission of paper was smooth, the review process was fast. I had excellent communication and on time response from the editor.
Ekiti State University Teaching Hospital, Nigeria
Ayokunle Dada
I am delighted and satisfied with. Heighten Science Publications as my manuscript was thoroughly assessed and published on time without delay. Keep up the good work.
Ido-Ekiti/Afe Babalola University, Nigeria
Dr. Shuaib Kayode Aremu
"This is my first time publishing with the journal/publisher. I am impressed at the promptness of the publishing staff and the professionalism displayed. Thank you for encouraging young researchers like me!"
Ekiti State University, Nigeria
Adebukola Ajite
I wanna to thank clinical journal of nursing care and practice for its effort to review and publish my manuscript. This is reputable journal. Thank you!
Wollo University, Ethiopia
Atsedemariam Andualem
We appreciate your approach to scholars and will encourage you to collaborate with your organization, which includes interesting and different medical journals.
With the best wishes of success, creativity and joy in life, prosperity in the medical field.
Ivano- Frankivsk National Medical University, Ukraine
Nataliya Kitsera
Thank you very much for your support and encouragement. I am truly impressed by your tolerance and support.
Thank you very much
Diaverum: PADC, Jeddah, Saudi Arabia
Nasrulla Abutaleb
You are such a nice person. Your journal co-operation is very appreciable and motivational.
Department of Biotechnology, Uttaranchal college of Applied and Life Sciences, Uttaranchal University, Dehradun, Uttarakhand, India
Archna Dhasmana
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BS, PharmD., MBA, CPHIMS, FHIMSS, Adjunct Professor, Global Healthcare Management, MCPHS University, Chief Strategy Offi cer, MedicaSoft, Senior Advisor, National Health IT (NHIT) Collaborative for Underserved, New York HIMSS, National Liaison, Health 2.0 Boston, Past Chair, Chair Innovation, USA
Helen Figge
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Ph.D, Boston University Department of Communication Sciences and Disorders and Knowledge Research Institute, Inc., 2131 Reflection Bay Drive, Arlington, Texas 76013, USA
Elisabeth H. Wiig
The service is nice and the time of processing the application is fast.
Department of Neurosurgery, Queen Elizabeth Hospital, Hong Kong
Long Ching
Your service is very good and fast reply, Also your service understand our situation and support us to publication our articles.
Palestine College of Nursing, Khan Younis, Gaza Strip, Palestine
Ayman M Abu Mustafa
“It was a delightful experience publishing my manuscript with the Clinical Journal of Obstetrics and Gynecology. They offered me lots of opportunities I never had from most publishing houses and their prompt services are greatly appreciated.”
Department of Agricultural Economics, Agribusiness and Extension, Kwame Nkrumah University of Science and Technology, Kumasi, Ghana
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