Mutations in the Gene PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions

Hsien-Yang Lee, Yong Huang, Nadine Bruneau, +38

Cell Reports

Dissecting the loci controlling fetal haemoglobin production on chromosomes 11p and 6q by the regressive approach

Jamie E. Craig, Jacques Rochette, Chris Fisher, +5

Nature Genetics

BiologyHaplotype DeterminationDevelopmental BiologyFetal Haemoglobin ProductionCell Division +13

PPARα inhibits vascular smooth muscle cell proliferation underlying intimal hyperplasia by inducing the tumor suppressor p16INK4a

Florence Gizard, Carole Amant, Olivier Barbier, +11

Journal of Clinical Investigation

Rapid analysis of ‐α^3.7 thalassaemia and ααα^{anti 3.7} triplication by enzymatic amplification analysis

Catherine Dodé, Rajagopal Krishnamoorthy, Janette Lamb, +1

British Journal of Haematology

Genetic TestingGeneticsGenetic EpidemiologyMolecular BiologyPathology +22

Linkage of Benign Familial Infantile Convulsions to Chromosome 16p12-q12 Suggests Allelism to the Infantile Convulsions and Choreoathetosis Syndrome

Roberto Caraballo, Sylvana Pavek, Arnaud Lemainque, +11

The American Journal of Human Genetics

Mendelian DisorderInfantile ConvulsionsGenetic DisorderGeneticsGenetic Epidemiology +4

<i>PRRT2</i> links infantile convulsions and paroxysmal dyskinesia with migraine

Robin Cloarec, Nadine Bruneau, Gabrielle Rudolf, +18

Neurology

Detection of a major gene for heterocellular hereditary persistence of fetal hemoglobin after accounting for genetic modifiers.

SL Thein, Maurizio Sampietro, Klaus Rohde, +4

PubMed

Severe phenotypic spectrum of biallelic mutations in<i>PRRT2</i>gene

Marion Delcourt, Florence Riant, Josette Mancini, +14

Journal of Neurology Neurosurgery & Psychiatry

Born to clot: the European burden

David C. Rees, Nicola H. Chapman, Matthew T. Webster, +3

British Journal of Haematology

Genetic EpidemiologyPathologyCultural StudiesThrombosisVenous Thrombosis +19

Moderate reduction of beta-globin gene transcript by a novel mutation in the 5' untranslated region: a study of its interaction with other genotypes in two families

P. Joy Ho, Jacques Rochette, CA Fisher, +4

Blood