Mutat < Mutation < Mutation assay

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List of bibliographic references indexed by Mutation

Number of relevant bibliographic references: 92.
[0-20] [0 - 20][0 - 50][20-40]

Ident.	Authors (with country if any)	Title
001041 (2014)	Jeroen Van Hoorn [Pays-Bas] ; Arno Brouwers [Pays-Bas] ; Matthias Griese [Allemagne] ; Boris Kramer [Pays-Bas]	Successful weaning from mechanical ventilation in a patient with surfactant protein C deficiency presenting with severe neonatal respiratory distress
001136 (2013)	Simona Turcu [Royaume-Uni] ; Emma Ashton [Royaume-Uni] ; Lucy Jenkins [Royaume-Uni] ; Atul Gupta [Royaume-Uni] ; Quen Mok [Royaume-Uni]	Genetic testing in children with surfactant dysfunction
001143 (2013)	Surendran Thavagnanam [Canada, Malaisie] ; Ernest Cutz [Canada] ; David Manson [Canada] ; Lawrence M. Nogee [Canada, États-Unis] ; Sharon D. Dell [Canada]	Variable clinical outcome of ABCA3 deficiency in two siblings
001170 (2013)	A. Adam [France] ; L. Thomas [France] ; N. Bories [France] ; D. Zaharia [France] ; B. Balme [France] ; N. Freymond [France] ; S. Dalle [France]	Sarcoidosis associated with vemurafenib
001236 (2013)		Clinicopathological Cases
001376 (2012)	Keiran S. M. Smalley ; Andrew E. Aplin ; Keith T. Flaherty ; Christoph Hoeller ; Anja K. Bosserhoff ; Nikolas K. Haass ; Marcus Bosenberg ; Antoni Ribas ; Raymond Barnhill ; Ragini Kudchadkar ; Jane L. Messina	Meeting report from the 2011 international melanoma congress, Tampa, Florida
001377 (2012)	Long Cui [États-Unis] ; Zenglei Wang [États-Unis] ; Jun Miao [États-Unis] ; Miao Miao [États-Unis] ; Ramesh Chandra [États-Unis] ; Hongying Jiang [États-Unis] ; Xin-Zhuan Su [États-Unis] ; Liwang Cui [États-Unis]	Mechanisms of in vitro resistance to dihydroartemisinin in Plasmodium falciparum
001382 (2012)		Lung Cancer
001388 (2012)	Bradford G. Hill ; Gloria A. Benavides ; Jack R. Lancaster ; Scott Ballinger ; Lou Dell Talia ; Jianhua Zhang ; Victor M. Darley-Usmar	Integration of cellular bioenergetics with mitochondrial quality control and autophagy
001412 (2012)	Babasola Fateye [États-Unis] ; Weihua Li [États-Unis] ; Chenguang Wang [États-Unis] ; Bin Chen [États-Unis]	Combination of Phosphatidylinositol 3‐Kinases Pathway Inhibitor and Photodynamic Therapy in Endothelial and Tumor Cells
001484 (2011)	B J Dunmore [Royaume-Uni] ; L. Long [Royaume-Uni] ; X D Yang [Royaume-Uni] ; A. Crosby [Royaume-Uni] ; N W Morrell [Royaume-Uni]	S99 The anti-malarial drug and lysosomal inhibitor, chloroquine, increases cell surface expression of BMPR-II
001485 (2011)	A. Crosby [Royaume-Uni] ; E. Soon [Royaume-Uni] ; F. Jones [Royaume-Uni] ; M. Southwood [Royaume-Uni] ; B. Dunmore [Royaume-Uni] ; D. Dunne [Royaume-Uni] ; N W Morrell [Royaume-Uni]	S98 BMPR-II mutations do not predispose to pulmonary arterial hypertension in a mouse model of schistosomiasis
001486 (2011)	L. Long [Royaume-Uni] ; X. Yang [Royaume-Uni] ; N W Morrell [Royaume-Uni] ; M. Southwood [Royaume-Uni]	S97 BMPR2 R899X knock-in mice developed age-related pulmonary hypertension
001501 (2011)	Maria T. Diaz-Meco	Targeting leucine addiction and autophagy in melanoma
001514 (2011)	Hussain Parappil [Qatar] ; Ahmad Al Baridi [Qatar] ; Sajjad Ur Rahman [Qatar] ; Mahmood H. Kitchi [Qatar] ; P. Ruef [Allemagne] ; M. Griese [Allemagne] ; P. Lohse [Allemagne] ; C. Aslanidis [Allemagne] ; G. Schmitz [Allemagne] ; L. Koch [Allemagne] ; J. Poeschl [Allemagne]	Respiratory distress syndrome due to a novel homozygous ABCA3 mutation in a term neonate
001521 (2011)	George R. Hoffmann [États-Unis] ; Amanda M. Laterza [États-Unis] ; Katelyn E. Sylvia [États-Unis] ; Jason P. Tartaglione [États-Unis]	Potentiation of the mutagenicity and recombinagenicity of bleomycin in yeast by unconventional intercalating agents
001577 (2011)		Bristol Cup Posters
001591 (2011)	Adrian Waite [Royaume-Uni] ; Maria Cristina De Rosa [Italie] ; Andrea Brancaccio [Italie] ; Derek J. Blake [Royaume-Uni]	A gain‐of‐glycosylation mutation associated with myoclonus‐dystonia syndrome affects trafficking and processing of mouse ε‐sarcoglycan in the late secretory pathway
001648 (2010)	Guillaume Thouvenin [France] ; Rola Abou Taam [France] ; Florence Flamein [France] ; Loïc Guillot [France] ; Muriel Le Bourgeois [France] ; Philippe Reix [France] ; Mickael Fayon [France] ; François Counil [France] ; Ulrika Depontbriand [France] ; Delphine Feldmann [France] ; Hubert Ducou-Le Pointe [France] ; Jacques De Blic [France] ; Annick Clement [France] ; Ralph Epaud [France]	Characteristics of disorders associated with genetic mutations of surfactant protein C
001661 (2010)	T. P. De Boer [Pays-Bas] ; M. J. C. Houtman [Pays-Bas] ; M. Compier [Pays-Bas] ; M. A. G. Van Der Heyden [Pays-Bas]	The mammalian KIR2.x inward rectifier ion channel family: expression pattern and pathophysiology
001709 (2010)	Charles R. Flynn [États-Unis] ; Joyce Cheung-Flynn [États-Unis] ; Christopher C. Smoke [États-Unis] ; David Lowry [États-Unis] ; Robert Roberson [États-Unis] ; Michael R. Sheller [États-Unis] ; Colleen M. Brophy [États-Unis]	Internalization and intracellular trafficking of a PTD‐conjugated anti‐fibrotic peptide, AZX100, in human dermal keloid fibroblasts

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