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Open Access

ISSN 2577-5790

© 2023 by the authors; CC BY 4.0 licence

OBM Genetics , Volume 7 , Issue 1 (2023)

Pages: 37

Published: September 2023

(This book is a printed edition that was published in OBM Genetics)

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Cover Story:Myotonic dystrophy type 1 (DM1) is an autosomal dominant genetic disorder characterized by myotonia and muscular dystrophy. Congenital myotonic dystrophy type 1 (CDM1) is a severe form of DM1, typically associated with more than 1000 CTG repeats, although cases with 730-1000 repeats have been reported. There are few reports on predicting whether a child will have CDM before birth. The aim of this study was to determine if it is possible to predict the development of CDM in children. View this paper.

Volume 7,Issue 1

Open Access Original Research

Congenital Phenotypes and DMPK CTG Repeat Number in Mothers/Children with Myotonic Dystrophy Type 1

Received: 29 June 2022;  Published: 28 March 2023;  doi: 10.21926/obm.genet.2301179

Abstract

Myotonic dystrophy type 1 (DM1) is an autosomal dominant genetic disease often resulting in more severe symptoms in affected children. The number of CTG repeats is reportedly related to congenital myotonic dystrophy 1 (CDM) severity. In this study, we aimed to clarify whether the number of CTG repeats can predict the severity of symptoms in children with CDM. This retrospective study examined 14 women with DM1 and their 14 children diagnosed with CDM. There were 11 CDM a [...]

Open Access Original Research

Chromosomal Abnormalities in Infertile Greek Men: A Single Institution’s Experience

Received: 21 October 2022;  Published: 08 February 2023;  doi: 10.21926/obm.genet.2301178

Abstract

Chromosomal abnormalities represent a significant genetic cause of male infertility because they impair spermatogenesis. The objective of the current study was to determine the prevalence and distribution of chromosomal abnormalities in Greek men with infertility. Four hundred eighty-eight infertile men (27 azoospermic, 168 with oligospermia -98 mild, 57 moderate, 13 severe- and 293 with normospermia) undergoing In Vitro Fertilization (IVF) between 2016-2022 were [...]

Open Access Technical Note

Validation of Fluorescence in Situ hybridization (FISH) Assay Using An Analyte-Specific Reagent in Detecting Aneuploidies of Chromosomes 13, 18, 21, X, and Y in Prenatal Diagnosis

Received: 01 October 2022;  Published: 06 February 2023;  doi: 10.21926/obm.genet.2301177

Abstract

Fluorescence In-Situ hybridization (FISH) is a sensitive and highly efficient technique commonly used in routine diagnostics. Most of these tests that use analyte-specific reagents are not approved by US Food and Drug Administration (FDA) but are developed by individual test laboratories. There is an emerging demand for prenatal diagnosis of aneuploidies by FISH. Since most of these assays are laboratory-developed tests, it is essential to validate them prior to their use in [...]

Open Access Interview

An Interview with Dr. Yuri Shavrukov

Received: 09 January 2023;  Published: 10 January 2023;  doi: 10.21926/obm.genet.2301176

Abstract

An Interview with Dr. Yuri Shavrukov

Open Access Editorial

Acknowledgment to Reviewers of OBM Genetics in 2022

Received: 05 January 2023;  Published: 05 January 2023;  doi: 10.21926/obm.genet.2301175

Abstract

The editors of OBM Genetics would like to express their sincere gratitude to the following reviewers for assessing manuscripts in 2022. We greatly appreciate the contribution of expert reviewers, which is crucial to the journal's editorial process. We aim to recognize reviewer contributions through several mechanisms, of which the annual publication of reviewer names is one. Reviewers receive a voucher entitling them to a discount on their next LIDSEN publication and can dow [...]
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