European Journal of Medical Genetics This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Long-term clinical evaluation of patients with alpha-mannosidosis - A multicenter study
CONCLUSION: The present study identified two novel MAN2B1 variants. An evaluation of the long-term outcome of alpha-mannosidosis, in which the early initiation of enzyme replacement therapy (ERT) may lead to a better clinical outcome, can permit a better analysis of the effect of ERT on the natural progression of the disease.PMID:38382588 | DOI:10.1016/j.ejmg.2024.104927 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - February 21, 2024 Category: Genetics & Stem Cells Authors: Engin K öse Çiğdem Seher Kasapkara Asl ı İnci Y ılmaz Yıldız İlknur Sürücü Kara Ay ça Burcu Kahraman Leyla T ümer Ali Dursun Fatma Tuba Emino ğlu Source Type: research

Imaging in osteogenesis imperfecta: Where we are and where we are going
Eur J Med Genet. 2024 Feb 16:104926. doi: 10.1016/j.ejmg.2024.104926. Online ahead of print.ABSTRACTOsteogenesis imperfecta (OI) is a rare phenotypically and genetically heterogeneous group of inherited skeletal dysplasias. The hallmark features of OI include bone fragility and susceptibility to fractures, bone deformity, and diminished growth, along with a plethora of associated secondary features (both skeletal and extraskeletal). The diagnosis of OI is currently made on clinical grounds and may be confirmed by genetic testing. However, imaging remains pivotal in the evaluation of this disease. The aim of this article is...
Source: European Journal of Medical Genetics - February 18, 2024 Category: Genetics & Stem Cells Authors: Silvia Gazzotti Rebecca Sassi Maria Pilar Aparisi G ómez Alice Moroni Evelise Brizola Marco Miceli Alberto Bazzocchi Source Type: research

Genome sequencing identify chromosome 9 inversions disrupting ENG in 2 unrelated HHT families
Eur J Med Genet. 2024 Feb 12;68:104919. doi: 10.1016/j.ejmg.2024.104919. Online ahead of print.ABSTRACTHereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber disease, is a dominant inherited vascular disorder. The clinical diagnosis is based on the Curaçao criteria and pathogenic variants in the ENG and ACVRL1 genes are responsible for most cases of HHT. Four families with a negative targeted gene panel and selected by a multidisciplinary team were selected and whole-genome sequencing was performed according to the recommendations of the French National Plan for Genomic Medicine. Structural variation...
Source: European Journal of Medical Genetics - February 14, 2024 Category: Genetics & Stem Cells Authors: M Tusseau M Eyries N Chatron F Coulet A Guichet E Colin B Demeer H Maillard J Thevenon C Lavigne V Saillour C Paris J M De Sainte Agathe M Pujalte A Guilhem S Dupuis-Girod G Lesca Source Type: research

A rare skeletal dysplasia in the etiology of severe scoliosis: Diaphanospondylodysostosis
In this study, we report on a 14-year-old girl patient with diaphanospondylodysostosis harbouring a novel BMPER mutation. The patient presented with severe scoliosis and severely hypoplastic/aplastic distal phalanges of the fingers and toes, findings yet hitherto not described in this syndrome.PMID:38355094 | DOI:10.1016/j.ejmg.2024.104924 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - February 14, 2024 Category: Genetics & Stem Cells Authors: Tu ğba Daşar Adalet El çin Yıldız G ökhan Demirkıran G ülen Eda Utine Pelin Özlem Şimşek Kiper Source Type: research

Genome sequencing identify chromosome 9 inversions disrupting ENG in 2 unrelated HHT families
Eur J Med Genet. 2024 Feb 12:104919. doi: 10.1016/j.ejmg.2024.104919. Online ahead of print.ABSTRACTHereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber disease, is a dominant inherited vascular disorder. The clinical diagnosis is based on the Curaçao criteria and pathogenic variants in the ENG and ACVRL1 genes are responsible for most cases of HHT. Four families with a negative targeted gene panel and selected by a multidisciplinary team were selected and whole-genome sequencing was performed according to the recommendations of the French National Plan for Genomic Medicine. Structural variations w...
Source: European Journal of Medical Genetics - February 14, 2024 Category: Genetics & Stem Cells Authors: M Tusseau M Eyries N Chatron F Coulet A Guichet E Colin B Demeer H Maillard J Thevenon C Lavigne V Saillour C Paris J M De Sainte Agathe M Pujalte A Guilhem S Dupuis-Girod G Lesca Source Type: research