• 205 Citations
  • 9 h-Index
19932015
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Fingerprint Dive into the research topics where Gabriella Esposito is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 2 Similar Profiles
Fructose Intolerance Medicine & Life Sciences
Fructose-Bisphosphate Aldolase Medicine & Life Sciences
Mutation Medicine & Life Sciences
Fructose Chemical Compounds
Genes Chemical Compounds
Duchenne Muscular Dystrophy Medicine & Life Sciences
Lamellar Ichthyosis Medicine & Life Sciences
Alleles Medicine & Life Sciences

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Research Output 1993 2015

  • 205 Citations
  • 9 h-Index
  • 22 Article

Lamellar ichthyosis and arthrogryposis in a premature neonate

De Leonibus, C., Lembo, C., Santantonio, A., Fioretti, T., Rojo, S., Salvatore, F., Devivo, M., Esposito, G. & Giliberti, P., Jun 30 2015, In : Journal of Dermatological Case Reports. 9, 2, p. 49-51 3 p.

Research output: Contribution to journalArticle

Lamellar Ichthyosis
Arthrogryposis
Newborn Infant
Early Diagnosis
Ectropion
6 Citations (Scopus)

A 15-year case-mix experience for fragile X syndrome molecular diagnosis and comparison between conventional and alternative techniques leading to a novel diagnostic procedure

Esposito, G., Ruggiero, R., Savarese, G., Savarese, M., Tremolaterra, M. R., Salvatore, F. & Carsana, A., Feb 8 2013, In : Clinica Chimica Acta. 417, p. 85-89 5 p.

Research output: Contribution to journalArticle

Fragile X Syndrome
Methylation
5' Untranslated Regions
Diagnosis-Related Groups
Assays
2 Citations (Scopus)

Different TGM1 mutation spectra in Italian and Portuguese patients with autosomal recessive congenital ichthyosis: Evidence of founder effects in Portugal

Esposito, G., De Falco, F., Neri, I., Graziano, C., Toschi, B., Auricchio, L., Gouveia, C., Sousa, A. B. & Salvatore, F., Jun 2013, In : British Journal of Dermatology. 168, 6, p. 1364-1367 4 p.

Research output: Contribution to journalArticle

7 Citations (Scopus)

Prenatal molecular diagnosis of inherited neuromuscular diseases: Duchenne/Becker muscular dystrophy, myotonic dystrophy type 1 and spinal muscular atrophy

Esposito, G., Ruggiero, R., Savarese, M., Savarese, G., Tremolaterra, M. R., Salvatore, F. & Carsana, A., Dec 1 2013, In : Clinical Chemistry and Laboratory Medicine. 51, 12, p. 2239-2245 7 p.

Research output: Contribution to journalArticle

Spinal Muscular Atrophies of Childhood
Neuromuscular Diseases
Myotonic Dystrophy
Duchenne Muscular Dystrophy
Prenatal Diagnosis
18 Citations (Scopus)

Aminotransferases and muscular diseases: A disregarded lesson. Case reports and review of the literature

Veropalumbo, C., Del Giudice, E., Esposito, G., Maddaluno, S., Ruggiero, L. & Vajro, P., Oct 2012, In : Journal of Paediatrics and Child Health. 48, 10, p. 886-890 5 p.

Research output: Contribution to journalArticle

Muscular Diseases
Transaminases
Liver Diseases
Liver
Biopsy