Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Ryan Liegel"'
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 299-311 (2014)
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports
Rhizomelic chondrodysplasia punctata (RCDP) is a genetically heterogeneous autosomal recessive syndrome characterized by congenital cataracts, shortening of the proximal limbs, neurological abnormalities, seizures, growth delays, and severe intellect
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3850ddf8a678abb0f00f6b8f51c0ba95
Autor:
Stephen Brown, Renata Posmyk, Deborah J. Morris-Rosendahl, Bo Chang, Ryan Liegel, Patrizia Accorsi, Lorenzo Pinelli, Allison D. Ebert, Adam Ronchetti, Lucio Giordano, Irene A. Aligianis, Andrea Linford, Francis A. Barr, Mark T. Handley, Francesca Faravelli, Britta Hartmann, Sarah M. Carpanini, Paulien A. Terhal, Eamonn Sheridan, Duska J. Sidjanin, Verity Harthill, Lars Langemeyer, Ghada M H Abdel-Salam
blind sterile (bs) is a spontaneous autosomal-recessive mouse mutation discovered more than 30 years ago. Phenotypically, bs mice exhibit nuclear cataracts and male infertility; genetic analyses assigned the bs locus to mouse chromosome 2. In this st
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a036438b738b49d3e6bb0687e5ccf5cc
https://ora.ox.ac.uk/objects/uuid:3bc31c89-f933-4ffa-84de-67733301f11e
https://ora.ox.ac.uk/objects/uuid:3bc31c89-f933-4ffa-84de-67733301f11e
Autor:
Adam Ronchetti, Allison D. Ebert, Ryan Liegel, Duska J. Sidjanin, Anna Kyunglim Park, Aron M. Geurts
Publikováno v:
BMC Genetics
Loss-of-function mutations in TBC1D20 cause Warburg Micro syndrome 4 (WARBM4), which is an autosomal recessive syndromic disorder characterized by eye, brain, and genital abnormalities. Blind sterile (bs) mice carry a Tbc1d20-null mutation and exhibi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b696555695958a93bfed68091bb8ce2a
http://europepmc.org/articles/PMC4266191
http://europepmc.org/articles/PMC4266191
Blind sterile 2 ( bs2 ) is a spontaneous autosomal recessive mouse mutation exhibiting cataracts and male sterility. Detailed clinical and histological evaluation revealed that bs2 mice have cataracts resulting from severely disrupted lens fiber cell
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77e33023e4e958d7b32d2bd2740175fd
https://europepmc.org/articles/PMC3081956/
https://europepmc.org/articles/PMC3081956/