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Refinado por: Base de dados/Biblioteca: DOAJ Directory of Open Access Journals remover assunto: Mutation remover Life Sciences & Biomedicine remover
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1
Diagnosis of autoimmune lymphoproliferative syndrome caused by FAS deficiency in adults
Diagnosis of autoimmune lymphoproliferative syndrome caused by FAS deficiency in adults
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Diagnosis of autoimmune lymphoproliferative syndrome caused by FAS deficiency in adults

Lambotte, Olivier ; Neven, Bénédicte ; Galicier, Lionel ; Magerus-Chatinet, Aude ; Schleinitz, Nicolas ; Hermine, Olivier ; Meyts, Isabelle ; Picard, Capucine ; Godeau, Bertrand ; Fischer, Alain ; Rieux-Laucat, Frédéric

Haematologica (Roma), 2013-03, Vol.98 (3), p.389-392 [Periódico revisado por pares]

Italy: Ferrata Storti Foundation

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2
NLRC4 GOF Mutations, a Challenging Diagnosis from Neonatal Age to Adulthood
NLRC4 GOF Mutations, a Challenging Diagnosis from Neonatal Age to Adulthood
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NLRC4 GOF Mutations, a Challenging Diagnosis from Neonatal Age to Adulthood

Bardet, Juliette ; Laverdure, Noémie ; Fusaro, Mathieu ; Picard, Capucine ; Garnier, Lorna ; Viel, Sébastien ; Collardeau-Frachon, Sophie ; Guillebon, Jean-Marie De ; Durieu, Isabelle ; Casari-Thery, Clémence ; Mortamet, Guillaume ; Laurent, Audrey ; Belot, Alexandre

Journal of clinical medicine, 2021-09, Vol.10 (19), p.4369 [Periódico revisado por pares]

Basel: MDPI AG

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3
Five-Years Review of RHCE Alleles Detected after Weak and/or Discrepant C Results in Southern France
Five-Years Review of RHCE Alleles Detected after Weak and/or Discrepant C Results in Southern France
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Five-Years Review of RHCE Alleles Detected after Weak and/or Discrepant C Results in Southern France

Pedini, Pascal ; Filosa, Lugdivine ; Bichel, Nelly ; Picard, Christophe ; Silvy, Monique ; Chiaroni, Jacques ; Izard, Caroline ; Laget, Laurine ; Mazières, Stéphane

Genes, 2022-06, Vol.13 (6), p.1058 [Periódico revisado por pares]

Basel: MDPI AG

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4
A human immunodeficiency caused by mutations in the PIK3R1 gene
A human immunodeficiency caused by mutations in the PIK3R1 gene
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A human immunodeficiency caused by mutations in the PIK3R1 gene

Deau, Marie-Céline ; Heurtier, Lucie ; Frange, Pierre ; Suarez, Felipe ; Bole-Feysot, Christine ; Nitschke, Patrick ; Cavazzana, Marina ; Picard, Capucine ; Durandy, Anne ; Fischer, Alain ; Kracker, Sven

The Journal of clinical investigation, 2014-09, Vol.124 (9), p.3923-3928 [Periódico revisado por pares]

United States: American Society for Clinical Investigation

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5
Constitutive activity of the melanocortin-4 receptor is maintained by its N-terminal domain and plays a role in energy homeostasis in humans
Constitutive activity of the melanocortin-4 receptor is maintained by its N-terminal domain and plays a role in energy homeostasis in humans
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Constitutive activity of the melanocortin-4 receptor is maintained by its N-terminal domain and plays a role in energy homeostasis in humans

Srinivasan, Supriya ; Lubrano-Berthelier, Cecile ; Govaerts, Cedric ; Picard, Franck ; Santiago, Pamela ; Conklin, Bruce R ; Vaisse, Christian

The Journal of clinical investigation, 2004-10, Vol.114 (8), p.1158-1164 [Periódico revisado por pares]

United States: American Society for Clinical Investigation

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6
Genetic Evidence for Elevated Pathogenicity of Mitochondrial DNA Heteroplasmy in Autism Spectrum Disorder
Genetic Evidence for Elevated Pathogenicity of Mitochondrial DNA Heteroplasmy in Autism Spectrum Disorder
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Genetic Evidence for Elevated Pathogenicity of Mitochondrial DNA Heteroplasmy in Autism Spectrum Disorder

Wang, Yiqin ; Picard, Martin ; Gu, Zhenglong Girirajan, Santhosh

PLoS genetics, 2016-10, Vol.12 (10), p.e1006391-e1006391 [Periódico revisado por pares]

United States: Public Library of Science

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7
Longitudinal stability of molecular alterations and drug response profiles in tumor spheroid cell lines enables reproducible analyses
Longitudinal stability of molecular alterations and drug response profiles in tumor spheroid cell lines enables reproducible analyses
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Longitudinal stability of molecular alterations and drug response profiles in tumor spheroid cell lines enables reproducible analyses

Nickel, A.C. ; Picard, D. ; Qin, N. ; Wolter, M. ; Kaulich, K. ; Hewera, M. ; Pauck, D. ; Marquardt, V. ; Torga, G. ; Muhammad, S. ; Zhang, W. ; Schnell, O. ; Steiger, H.-J. ; Hänggi, D. ; Fritsche, E. ; Her, N.-G. ; Nam, D.-H. ; Carro, M.S. ; Remke, M. ; Reifenberger, G. ; Kahlert, U.D.

Biomedicine & pharmacotherapy, 2021-12, Vol.144, p.112278-112278, Article 112278 [Periódico revisado por pares]

France: Elsevier Masson SAS

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8
Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis
Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis
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Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis

Hotz, Alrun ; Oji, Vinzenz ; Bourrat, Emmanuelle ; Jonca, Nathalie ; Mazereeuw-Hautier, Juliette ; Betz, Regina C ; Blume-Peytavi, Ulrike ; Stieler, Karola ; Morice-Picard, Fanny ; Schönbuchner, Ines ; Markus, Susanne ; Schlipf, Nina ; Fischer, Judith

Acta dermato-venereologica, 2016-01, Vol.96 (4), p.473-478 [Periódico revisado por pares]

Sweden

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9
Loss of ARHGEF1 causes a human primary antibody deficiency
Loss of ARHGEF1 causes a human primary antibody deficiency
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Loss of ARHGEF1 causes a human primary antibody deficiency

Bouafia, Amine ; Lofek, Sébastien ; Bruneau, Julie ; Chentout, Loïc ; Lamrini, Hicham ; Trinquand, Amélie ; Deau, Marie-Céline ; Heurtier, Lucie ; Meignin, Véronique ; Picard, Capucine ; Macintyre, Elizabeth ; Alibeu, Olivier ; Bras, Marc ; Molina, Thierry Jo ; Cavazzana, Marina ; André-Schmutz, Isabelle ; Durandy, Anne ; Fischer, Alain ; Oksenhendler, Eric ; Kracker, Sven

The Journal of clinical investigation, 2019-03, Vol.129 (3), p.1047-1060 [Periódico revisado por pares]

United States: American Society for Clinical Investigation

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10
Keratitis-Ichthyosis-Deafness Syndrome: Early Death Caused by the GJB2 Mutation p.Gly12Arg
Keratitis-Ichthyosis-Deafness Syndrome: Early Death Caused by the GJB2 Mutation p.Gly12Arg
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Keratitis-Ichthyosis-Deafness Syndrome: Early Death Caused by the GJB2 Mutation p.Gly12Arg

Godillot, Clothilde ; Severino-Freire, Maella ; Michaud, Vincent ; Boralevi, Franck ; Labrèze, Christine ; Guigonis, Vincent ; Onnis, Giuliana ; Morice-Picard, Fanny ; Mazereeuw-Hautier, Juliette

Acta dermato-venereologica, 2019-09, Vol.99 (10), p.921-922 [Periódico revisado por pares]

Sweden: Medical Journals Sweden

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