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Fingerprint Dive into the research topics where Margherita Estienne is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 5 Similar Profiles
Pediatrics Medicine & Life Sciences
Genes Medicine & Life Sciences
Mutation Medicine & Life Sciences
Epilepsy Medicine & Life Sciences
Anticonvulsants Medicine & Life Sciences
felbamate Medicine & Life Sciences
Pharmacokinetics Medicine & Life Sciences
Seizures Medicine & Life Sciences

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Research Output 1993 2018

  • 509 Citations
  • 12 h-Index
  • 25 Article
2 Citations (Scopus)
Untranslated RNA
Long Noncoding RNA
Language Development
Comparative Genomic Hybridization
Penetrance

16p13 microduplication without CREBBP involvement: Moving toward a phenotype delineation

Ciaccio, C., Tucci, A., Scuvera, G., Estienne, M., Esposito, S. & Milani, D., Mar 1 2017, In : European Journal of Medical Genetics. 60, 3, p. 159-162 4 p.

Research output: Contribution to journalArticle

Genomic Segmental Duplications
Chromosome Duplication
Phenotype
Chromosomes, Human, Pair 16
Congenital Heart Defects
13 Citations (Scopus)

Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan–Herndon–Dudley Syndrome

Novara, F., Groeneweg, S., Freri, E., Estienne, M., Reho, P., Matricardi, S., Matricardi, S., Castellotti, B., Visser, W. E., Zuffardi, O. & Visser, T. J., Mar 1 2017, In : Human Mutation. 38, 3, p. 260-264 5 p.

Research output: Contribution to journalArticle

Mutation
Phenotype
Thyrotoxicosis
Thyroid Hormones
Proteins
19 Citations (Scopus)

PDCD10 gene mutations in multiple cerebral cavernous malformations

Cigoli, M. S. O., Avemaria, F., De Benedetti, S., Gesu, G. P., Accorsi, L. G. I., Parmigiani, S., Corona, M. F. R., Capra, V., Mosca, A., Giovannini, S., Notturno, F., Ciccocioppo, F., Volpi, L., Estienne, M., De Michele, G., Antenora, A., Bilo, L., Tavoni, A., Zamponi, N., Alfei, E. & 3 others, Baranello, G., Riva, D. & Penco, S., 2014, In : PLoS One. 9, 10, p. e110438

Research output: Contribution to journalArticle

Central Nervous System Cavernous Hemangioma
Amplification
Screening
Genes
mutation
10 Citations (Scopus)

MEF2C deletions and mutations versus duplications: A clinical comparison

Novara, F., Rizzo, A., Bedini, G., Girgenti, V., Esposito, S., Pantaleoni, C., Ciccone, R., Sciacca, F. L., Achille, V., Della Mina, E., Gana, S., Zuffardi, O. & Estienne, M., 2013, In : European Journal of Medical Genetics. 56, 5, p. 260-265 6 p.

Research output: Contribution to journalArticle

Sequence Deletion
Nose
Intellectual Disability
Genes
Phenotype