Zobrazeno 1 - 10
of 250
pro vyhledávání: '"obligate carrier"'
Autor:
Giovanni Gambaro, Alessandro Naticchia, Pietro Manuel Ferraro, Gionata Spagnoletti, Jacopo Romagnoli, Maria Paola Salerno, Franco Citterio
Publikováno v:
Kidney & Blood Pressure Research, Vol 44, Iss 5, Pp 1306-1312 (2019)
Introduction: Dent’s disease is a rare X-linked recessive disorder that manifests in childhood or early adulthood and can lead to end-stage renal disease (ESRD). It occurs in males, who are hemizygous. In patients who develop ESRD, a deceased donor
Externí odkaz:
https://doaj.org/article/3e263ec0813040e4aee2b6c3868101b7
Autor:
Miguel Angel Alcántara-Ortigoza, Nestor Alejandro Zarate Díaz, Leonardo M. Porchia, Adina Neumann, Esther López-Bayghen, Javier Sam Santana, Ariadna González-del Angel
Publikováno v:
World Journal of Clinical Cases
BACKGROUND Identifying a potential single monogenetic disorder in healthy couples is costly due to the Assisted Reproduction facilities' current methodology for screening, which focuses on the detecting multiple genetic disorders at once. Here, we re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5df7d63e80eb11c38fbb8db11d0bc7a5
https://doi.org/10.12998/wjcc.v9.i29.8797
https://doi.org/10.12998/wjcc.v9.i29.8797
Autor:
Franco Citterio, Alessandro Naticchia, Jacopo Romagnoli, Maria Paola Salerno, Pietro Manuel Ferraro, G. Spagnoletti, Giovanni Gambaro
Publikováno v:
Kidney & Blood Pressure Research, Vol 44, Iss 5, Pp 1306-1312 (2019)
Introduction: Dent’s disease is a rare X-linked recessive disorder that manifests in childhood or early adulthood and can lead to end-stage renal disease (ESRD). It occurs in males, who are hemizygous. In patients who develop ESRD, a deceased donor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ef455025abf633b8928397259c45404
https://www.karger.com/Article/FullText/503301
https://www.karger.com/Article/FullText/503301
Publikováno v:
Journal of medical genetics. 59(5)
Management of familial adenomatous polyposis (FAP) is guided by the cumulative risk of colorectal cancer (CRC) and aggressive fibromatosis/desmoid (AF/D). The first non-Caucasian FAP cohort with cumulative risk estimates for CRC and AF/D shows distin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8e8bebc6d2285a0387b8df65ce9c080
https://pubmed.ncbi.nlm.nih.gov/33766935
https://pubmed.ncbi.nlm.nih.gov/33766935
Autor:
Mehar S. Khatkar, Keith Walker, Ecem Kaya, S. A. Woolley, Frances M. Platt, Brendon A. O’Rourke, Cali E. Willet, David A. Priestman, Anthony Morton, Peter J. Healy, Annette Elliott, Dawn Shepherd, Imke Tammen, Cor Lenghaus, Clarisse Hoerner, Ben T. Porebski, Emily R. Tsimnadis
Publikováno v:
PLoS ONE
PLoS ONE, Vol 15, Iss 9, p e0238697 (2020)
PLoS ONE, Vol 15, Iss 9, p e0238697 (2020)
Niemann-Pick type C disease is a lysosomal storage disease affecting primarily the nervous system that results in premature death. Here we present the first report and investigation of Niemann-Pick type C disease in Australian Angus/Angus-cross calve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74efb7963486e80a0c1c9b7174dab91b
http://europepmc.org/articles/PMC7514041
http://europepmc.org/articles/PMC7514041
Autor:
Chiara Mazzanti, Liliana Francipane, Carlos Daniel de Brasi, Leonela Natalia Luce, Florencia Giliberto, Sebastián Menazzi, Pablo Lapunzina, Irene Szijan, Micaela Carcione, Liliana Carmen Rossetti, Julián Nevado, M. M. Abelleyro, Pamela Radic
Publikováno v:
Neuromuscular disorders : NMD. 31(3)
This work describes a family with Duchenne muscular dystrophy (DMD) with a rare case of a symptomatic pregnant woman. The main aim was to perform prenatal molecular diagnosis to provide genetic counseling. The secondary aim was to suggest the molecul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f72edb5b82728a83bb2bea130fd931f
https://pubmed.ncbi.nlm.nih.gov/33451931
https://pubmed.ncbi.nlm.nih.gov/33451931
An inherited neurologic syndrome in a family of mixed-breed Oriental cats has been characterized as forebrain commissural malformation concurrent with ventriculomegaly and interhemispheric cysts. However, the genetic basis for this autosomal recessiv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::735d491ff2ebe73fbd6aa6544e4a9020
https://doi.org/10.1101/2020.05.12.091686
https://doi.org/10.1101/2020.05.12.091686
Publikováno v:
J Pediatr Genet
Multiplex ligation-dependent probe amplification (MLPA) detects exonic deletions and duplications in the DMD gene in around 65 to 70% of patients with the Duchenne muscular dystrophy (DMD) phenotype. This study looks at the diagnostic yield of next-g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d1f944be654a2a7a86f28fc2221d3ee
https://pubmed.ncbi.nlm.nih.gov/33552634
https://pubmed.ncbi.nlm.nih.gov/33552634
Autor:
Hafizur Rahman, Tashmim Farhana Dipta, Amin Lutful Kabir, Nafisa Fatema, Ahmed Zahid Hossain, Shamima Ferdousi, Gazi Sharmin Sultana
Publikováno v:
Anwer Khan Modern Medical College Journal. 7:5-10
Back ground: Iron deficiency anemia (IDA) and beta-thalassaemia trait (B-TT) are the most common causes of hypochromic microcytic anemia. Many indices have been defined to quickly discriminate these similar entities via parameters obtained from autom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e86129bce7cb2f1cd1db2d9ae86be560
https://doi.org/10.3329/akmmcj.v7i1.31600
https://doi.org/10.3329/akmmcj.v7i1.31600
Autor:
Van Khanh Tran, Tuan Pham Le-Anh, Long Hoang Luong, Dat Quoc Tran, Thanh Van Ta, Thinh Huy Tran, The-Hung Bui, Linh Thuy Dinh, Phuong Thi Le, Duc Hinh Nguyen
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 57, Iss 6, Pp 878-880 (2018)
Objective: Duchenne muscular dystrophy (DMD) is a severe disorder caused by mutation in the X-linked dystrophin gene, therefor carrier testing is required for all female family members. However, there are cases mutation analysis cannot detect any mut
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::354b776d88cdd0ef45f9baa7598e473c
https://doi.org/10.1016/j.tjog.2018.10.019
https://doi.org/10.1016/j.tjog.2018.10.019