Zobrazeno 1 - 10
of 35
pro vyhledávání: '"T. Favez"'
Autor:
T. Favez, Layla Molina, Alessandra Bosco, Cholpisut Tantapakul, Wisanu Maneerat, Roy M. Golsteyn, Sophie M. Kernéis, Pierre Gönczy, David E. Williams, Raymond J. Andersen, Georgios N. Hatzopoulos, Benjamin Yeremy
Publikováno v:
Molecular Biology Reports. 48:5459-5471
Background The Canadian prairie ecosystem presents a rich source of natural products from plants that are subjected to herbivory by grazing mammals. This type of ecological competition may contribute to the production of natural products of interest
Autor:
T. Favez, Pierre Gönczy, Isabelle Flückiger, Santiago H. Andany, Oliver Hantschel, Tim Kükenshöner, Niccolò Banterle, Georgios N. Hatzopoulos, Georg E. Fantner, Virginie Hamel
Publikováno v:
Nature Communications
Nature Communications, Vol 12, Iss 1, Pp 1-14 (2021)
Nature Communications, Vol 12, Iss 1, Pp 1-14 (2021)
Centrioles are evolutionarily conserved multi-protein organelles essential for forming cilia and centrosomes. Centriole biogenesis begins with self-assembly of SAS-6 proteins into 9-fold symmetrical ring polymers, which then stack into a cartwheel th
Autor:
Nihal El Shakankiry, C. Agosti, Mohamed I. Youssef, T. Favez, Francis L. Munier, Nader Hussein Lotfy Bayoumi, Daniel F. Schorderet, Hana Abouzeid, Patrick Descombes, Gaëlle Boisset, Iman Marzouk
Publikováno v:
The American Journal of Human Genetics. 88:92-98
Waardenburg anophthalmia syndrome, also known as microphthalmia with limb anomalies, ophthalmoacromelic syndrome, and anophthalmia-syndactyly, is a rare autosomal-recessive developmental disorder that has been mapped to 10p11.23. Here we show that th
Publikováno v:
British Journal of Ophthalmology, Vol. 98, No 12 (2014) pp. 1718-1723
Objective To genetically and phenotypically describe a new ADAM9 homozygous mutation in a consanguineous family from Egypt with autosomal recessive cone-rod dystrophy (arCRD), anterior polar and posterior subcapsular cataract. Design, setting and par
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c5be980cdfd97f0c1fb1e7a862e5d1b
https://archive-ouverte.unige.ch/unige:142246
https://archive-ouverte.unige.ch/unige:142246
Publikováno v:
Retinal Degenerative Diseases ISBN: 9781461432081
The molecular diagnosis of retinal dystrophies (RD) is difficult because of genetic and clinical heterogeneity. Previously, the molecular screening of genes was done one by one, sometimes in a scheme based on the frequency of sequence variants and th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::602602d34e51f1a378f5c9d5fd738778
https://doi.org/10.1007/978-1-4614-3209-8_22
https://doi.org/10.1007/978-1-4614-3209-8_22
Autor:
Francis L. Munier, Hana Abouzeid, T. Favez, Iman Marzouk, C. Agosti, Nader Hussein Lotfy Bayoumi, Nihal El Shakankiry, M.M. Youssef, Angélique Schmid, Daniel F. Schorderet
Publikováno v:
Human Mutation, Vol. 35, No 8 (2014) pp. 949-953
Anophthalmia or microphthalmia (A/M), characterized by absent or small eye, can be unilateral or bilateral and represent developmental anomalies due to the mutations in several genes. Recently, mutations in aldehyde dehydrogenase family 1, member A3
Publikováno v:
Schorderet, Daniel F; Iouranova, Alexandra; Favez, Tatiana; Tiab, Leila; Escher, Pascal (2013). IROme, a new high-throughput molecular tool for the diagnosis of inherited retinal dystrophies. BioMed research international, 2013(198089), p. 198089. Hindawi Publishing Corporation 10.1155/2013/198089
BioMed research international
BioMed Research International, Vol 2013 (2013)
BioMed Research International
Biomed Research International, vol. 2013, pp. 198089
BioMed research international
BioMed Research International, Vol 2013 (2013)
BioMed Research International
Biomed Research International, vol. 2013, pp. 198089
The molecular diagnosis of retinal dystrophies is difficult because of the very important number of genes implicated and is rarely helped by genotype-phenotype correlations. This prompted us to develop IROme, a custom designed in solution-based targe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba6ebfacd34b3d11c727372113dcc8c0
https://boris.unibe.ch/101787/1/198089.pdf
https://boris.unibe.ch/101787/1/198089.pdf
Autor:
Daniel F. Schorderet, Hana Abouzeid, Gaëlle Boisset, Mai M. Sherif, G Helmy, Mariam Halim Yacoub, T. Favez, M El Sada
Publikováno v:
Acta Ophthalmologica. 90
Purpose To report on the molecular origin of congenital cataract in an Egyptian family. Methods We performed a genome-wide SNPs array analysis in a consanguineous family of Egyptian origin with two affected and one unaffected children with congenital
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