Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Patrick Callier"'
Autor:
Virginie Carmignac, David Vandroux, Nathalie Droin, Patrick Callier, Guillaume Meurice, Laurence Faivre, Noémie Pata-Merci, Romaric Loffroy, Christel Thauvin-Robinet, Ange-Line Bruel, Romain Da Costa, Julien Thevenon, Olivier Bouchot, Laurence Duplomb, Eric Solary
Publikováno v:
Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2017, 26 (23), pp.4680-4688. ⟨10.1093/hmg/ddx349⟩
Human Molecular Genetics, Oxford University Press (OUP), 2017, 〈https://academic.oup.com/hmg/article-abstract/doi/10.1093/hmg/ddx349/4110401?redirectedFrom=fulltext〉. 〈10.1093/hmg/ddx349〉
Human Molecular Genetics, Oxford University Press (OUP), 2017, 26 (23), pp.4680-4688. ⟨10.1093/hmg/ddx349⟩
Human Molecular Genetics, Oxford University Press (OUP), 2017, 〈https://academic.oup.com/hmg/article-abstract/doi/10.1093/hmg/ddx349/4110401?redirectedFrom=fulltext〉. 〈10.1093/hmg/ddx349〉
IF 5.340; International audience; The main identified function of BCL2 protein is to prevent cell death by apoptosis. Mice knock-out for Bcl2 demonstrate growth retardation, severe polycystic kidney disease (PKD), gray hair and lymphopenia, and die p
Autor:
Eric Bieth, Alice Masurel-Paulet, Bernard Aral, Nadège Gigot, Brunella Franco, Anne Donzel, Mario Tosi, Lionel Van Maldergem, Elodie Gautier, Frédéric Huet, Laurence Faivre, Jean-Raymond Teyssier, Ahmad S. Teebi, Pascale Saugier-Veber, Patrick Callier, Valérie Layet, Thierry Frebourg, James Lespinasse, Francine Mugneret, Christel Thauvin-Robinet, Michèle Mathieu
Publikováno v:
Human Mutation. 30:E320-E329
Oral-facial-digital type I syndrome (OFDI) is characterised by an X-linked dominant mode of inheritance with lethality in males. Clinical features include facial dysmorphism with oral, dental and distal abnormalities, polycystic kidney disease and ce