FGFR3 and TP53 gene mutations define two distinct pathways in urothelial cell carcinoma of the bladder.

Ashraf Bakkar, Hervé Wallerand, François Radvanyi, +10

PubMed

PathologyTumor BiologyGenitourinary CancerCancer Cell BiologyFibroblast Growth Factor +14

Does Liebig's law of the minimum scale up from species to communities?

Michaël Danger, Tanguy Daufresne, Françoise Lucas, +2

Oikos

Specie InteractionMinimum ScalePopulation EcologySocial SciencesBiogeography +14

Pathophysiology of sickle cell disease is mirrored by the red blood cell metabolome

Dhouha Darghouth, Bérengère Koehl, Geoffrey Madalinski, +12

Blood

Hydroxyurea can eliminate transfusion requirements in children with severe β-thalassemia

Mohamed Bradai, Mohand Tayeb Abad, Serge Pissard, +3

Blood

Erythrocyte density in sickle cell syndromes is associated with specific clinical manifestations and hemolysis

Pablo Bartolucci, Carlo Brugnara, Armando Teixeira‐Pinto, +4

Blood

Clinically relevant updates of the HbVar database of human hemoglobin variants and thalassemia mutations

Belinda Giardine, Philippe Joly, Serge Pissard, +4

Nucleic Acids Research

Comparison of Immunocytochemical and Molecular Features with the Phenotype in a Case of Incomplete Male Pseudohermaphroditism Associated with a Mutation of the Luteinizing Hormone Receptor1

Micheline Misrahi, Geri Méduri, Serge Pissard, +7

The Journal of Clinical Endocrinology & Metabolism

Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency

Paola Bianchi, Elisa Fermo, Bertil Glader, +15

American Journal of Hematology

Diagnostic WorkflowPyruvate Kinase DeficiencyDiagnosisPathologyDiagnostic Guidelines +14

Variants in genetic modifiers of  -thalassemia can help to predict the major or intermedia type of the disease

Catherine Badens, Philippe Joly, Imane Agouti, +7

Haematologica

GeneticsGenetic EpidemiologyHuman PolymorphismIntermedia TypeDisease Gene Identification +22

Selection of Maternal Human Immunodeficiency Virus Type 1 Variants in Human Placenta

Elisabeth Menu, François–Xavier Mbopi Keou, Sylvie Lagaye, +7

The Journal of Infectious Diseases

ImmunologyGynecologyPathologyHiv-1 Env SequencesSerial Maternal Blood +15