Výsledky vyhledávání

A Novel Mutation in the ADAMTS10 Associated with Weil–Marchesani Syndrome with a Unique Presentation of Developed Membranes Causing Severe Stenosis of the Supra Pulmonic, Supramitral, and Subaortic Areas in the Heart

Autor: Aviva Levitas, Liam Aspit, Neta Lowenthal, David Shaki, Hanna Krymko, Leonel Slanovic, Ronit Yagev, Ruti Parvari

Publikováno v: International Journal of Molecular Sciences; Volume 24; Issue 10; Pages: 8864

Weill–Marchesani syndrome (WMS) is a rare genetic inherited disorder with autosomal recessive and dominant modes of inheritance. WMS is characterized by the association of short stature, brachydactyly, joint stiffness, eye anomalies, including micr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::add370439ee3c456ab00ed58e9dd7c79

Zobrazit plný text záznamu

Plný text ve formátu HTML

Duchenne Muscular Dystrophy and Early Onset Hypertrophic Cardiomyopathy associated with Mutations in Dystrophin and Hypertrophic Cardiomyopathy-Associated Genes

Autor: Noga Arwas, Ruti Parvari, Yoram Etzion, Aviva Levitas, Liam Aspit, Hanna Krymko

Publikováno v: J Pediatr Genet

Duchenne muscular dystrophy (DMD) is a progressive muscular damage disorder caused by mutations in dystrophin gene. Cardiomyopathy may first be evident after 10 years of age and increases in incidence with age. We present a boy diagnosed at 18 months

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11ca8f12275e379c3751ecddc25a7153
https://doi.org/10.1055/s-0040-1718724

Zobrazit plný text záznamu

A HomozygousNme7Mutation Is Associated withSitus Inversus Totalis

Autor: Todd E. Scheetz, Ruti Parvari, Yehudah Roth, Lilach Benyamini, Val C. Sheffield, Orit Reish, Huda Mussaffi, Liam Aspit, Sylvie Polak-Charcon, Tatiana Baboushkin, Arielle Zouella

Publikováno v: Human Mutation. 37:727-731

We investigated the cause of situs inversus totalis (SIT) in two siblings from a consanguineous family. Genotyping and whole-exome analysis revealed a homozygous change in NME7, resulting in deletion of an exon causing an in-frame deletion of 34 amin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d7c5453e3aa92aaaf3e69d465c87514b
https://doi.org/10.1002/humu.22998

Zobrazit plný text záznamu

CAP2 mutation leads to impaired actin dynamics and associates with supraventricular tachycardia and dilated cardiomyopathy

Autor: Liam Aspit, Raz Zarivach, Ruti Parvari, Aviva Levitas, Yoram Etzion, Sharon Etzion, Hanna Krymko, Leonel Slanovic

Publikováno v: Journal of medical genetics. 56(4)

BackgroundDilated cardiomyopathy (DCM) is a primary myocardial disease leading to contractile dysfunction, progressive heart failure and excessive risk of sudden cardiac death. Around half of DCM cases are idiopathic, and genetic factors seem to play

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8c44e5c57c50142799762fdf3e3cdda
https://pubmed.ncbi.nlm.nih.gov/30518548

Zobrazit plný text záznamu

A Homozygous Nme7 Mutation Is Associated with Situs Inversus Totalis

Autor: Orit, Reish, Liam, Aspit, Arielle, Zouella, Yehudah, Roth, Sylvie, Polak-Charcon, Tatiana, Baboushkin, Lilach, Benyamini, Todd E, Scheetz, Huda, Mussaffi, Val C, Sheffield, Ruti, Parvari

Publikováno v: Human mutation. 37(8)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::22f47a09b4647b11dfe117e60dec6965
https://pubmed.ncbi.nlm.nih.gov/27060491

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání