Marlène Rio

Overview

Best Publications

• Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

  C Shaw-Smith;R Redon;L Rickman;M Rio

  733
  Citations

• Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

  Yanick J. Crow;Diana S. Chase;Johanna Lowenstein Schmidt;Marcin Szynkiewicz

  638
  Citations

• Breast cancer-Associated pS2 protein: Synthesis and secretion by normal stomach mucosa

  M. C. Rio;J. P. Bellocq;J. Y. Daniel;C. Tomasetto

  407
  Citations

• Mutations in TCF4, Encoding a Class I Basic Helix-Loop-Helix Transcription Factor, Are Responsible for Pitt-Hopkins Syndrome, a Severe Epileptic Encephalopathy Associated with Autonomic Dysfunction

  Jeanne Amiel;Marlène Rio;Loïc de Pontual;Richard Redon

  397
  Citations

• Ghrelin/motilin-related peptide is a potent prokinetic to reverse gastric postoperative ileus in rat.

  L. Trudel;C. Tomasetto;M. C. Rio;M. Bouin

  382
  Citations

• Key clinical features to identify girls with CDKL5 mutations

  Nadia Bahi-Buisson;Juliette Nectoux;Juliette Nectoux;Haydeé Rosas-Vargas;Haydeé Rosas-Vargas;Mathieu Milh

  346
  Citations

• Identification of Four Novel Human Genes Amplified and Overexpressed in Breast Carcinoma and Localized to the q11-q21.3 Region of Chromosome 17

  C. Tomasetto;C. Régnier;C. Moog-Lutz;M.G. Mattei

  308
  Citations

• Comparison of Clinical Presentations and Outcomes Between Patients With TGFBR2 and FBN1 Mutations in Marfan Syndrome and Related Disorders

  David Attias;Chantal Stheneur;Carine Roy;Gwenaëlle Collod-Béroud

  297
  Citations

• Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype–phenotype relationships and overlap with Costello syndrome

  Caroline Nava;Nadine Hanna;Caroline Michot;Sabrina Pereira

  295
  Citations

• Chromosomal factors of infertility in candidate couples for ICSI: an equal risk of constitutional aberrations in women and men

  J Gekas;F Thepot;C Turleau;J P Siffroi

  276
  Citations

• hSP, the domain-duplicated homolog of pS2 protein, is co-expressed with pS2 in stomach but not in breast carcinoma.

  C. Tomasetto;M.C. Rio;C. Gautier;C. Wolf

  258
  Citations

• Truncating Neurotrypsin Mutation in Autosomal Recessive Nonsyndromic Mental Retardation

  Florence Molinari;Marlène Rio;Virginia Meskenaite;Férechté Encha-Razavi

  256
  Citations

• The three stages of epilepsy in patients with CDKL5 mutations.

  Nadia Bahi-Buisson;Nadia Bahi-Buisson;Anna Kaminska;Anna Kaminska;Nathalie Boddaert;Nathalie Boddaert;Marlène Rio

  220
  Citations

• NONO Detects the Nuclear HIV Capsid to Promote cGAS-Mediated Innate Immune Activation

  Xavier Lahaye;Matteo Gentili;Aymeric Silvin;Cécile Conrad

  220
  Citations

• Spectrum of NSD1 mutations in Sotos and Weaver syndromes

  M Rio;L Clech;J Amiel;L Faivre

  178
  Citations

• Impaired Mitochondrial Glutamate Transport in Autosomal Recessive Neonatal Myoclonic Epilepsy

  Florence Molinari;Annick Raas-Rothschild;Marlène Rio;Giuseppe Fiermonte

  175
  Citations

• Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy.

  Louise Galmiche;Valérie Serre;Marine Beinat;Zahra Assouline

  169
  Citations

• Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome.

  Loïc de Pontual;Yves Mathieu;Christelle Golzio;Marlène Rio

  167
  Citations

• Paradoxical NSD1 Mutations in Beckwith-Wiedemann Syndrome and 11p15 Anomalies in Sotos Syndrome

  Geneviève Baujat;Marlène Rio;Sylvie Rossignol;Damien Sanlaville

  156
  Citations

• MED23 mutation links intellectual disability to dysregulation of immediate early gene expression.

  Satoru Hashimoto;Sarah Boissel;Mohammed Zarhrate;Marlène Rio

  150
  Citations