Concepedia

Emanuela Conti

EC

16

Publications

1.2K

Citations

15

H-Index

1998

Active since

Affiliations

Sapienza University of Rome(Current)

Bambino Gesù Children's Hospital

University of Rome Tor Vergata

Istituti di Ricovero e Cura a Carattere Scientifico

Casa Sollievo della Sofferenza

Emanuela Conti is an author at Sapienza University of Rome specializing in medicine, genetics, and molecular genetics.

Top concepts

MedicineGeneticsMolecular GeneticsPathologyGene ExpressionDevelopmental BiologyNeurogeneticsNeuropathologyMolecular BiologyGenomics

Publications per year

1998–2005

16

Publications

16

Grouping of Multiple-Lentigines/LEOPARD and Noonan Syndromes on the PTPN11 Gene

M. Cristina Digilio, Emanuela Conti, Anna Sárközy et al. · The American Journal of Human Genetics · 2002 · 418 citations · Full text

Genetic Disorder, Genetics, Pathogenesis +5

NF1 Gene Mutations Represent the Major Molecular Event Underlying Neurofibromatosis-Noonan Syndrome

Alessandro De Luca, Irene Bottillo, Anna Sárközy et al. · The American Journal of Human Genetics · 2005 · 151 citations · Full text

Neurobiology Of Disease, Mendelian Disorder, Genetic Disorder +9

Mutations ofZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot

Antonio Pizzuti, Anna Sárközy, Anthea Newton et al. · Human Mutation · 2003 · 139 citations

Atypical deletions suggest five 22q11.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome

Francesca Amati, Emanuela Conti, Antonio Novelli et al. · European Journal of Human Genetics · 1999 · 133 citations · Full text

Cardiovascular Disease, Physiology, Digeorge/velo-cardio-facial Syndrome +8

Mutations of the Nogo-66 receptor (RTN4R) gene in schizophrenia

Lorenzo Sinibaldi, Alessandro De Luca, Emanuele Bellacchio et al. · Human Mutation · 2004 · 71 citations · Full text

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