Concepedia

Aldamaria Puliti

AP

41

Publications

2.7K

Citations

23

H-Index

1992

Active since

Affiliations

Istituto Giannina Gaslini(Current)

University of Genoa

Istituti di Ricovero e Cura a Carattere Scientifico

University of Pisa

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico

Aldamaria Puliti is an author at Istituto Giannina Gaslini specializing in medicine, genetics, and neuroscience.

ORCID

Top concepts

Publications per year

1992–2021

41

Publications

41

SOX10 mutations in patients with Waardenburg-Hirschsprung disease

Véronique Pingault, Nadège Bondurand, Kirsten Kuhlbrodt et al. · Nature Genetics · 1998 · 817 citations

, , +7

Mutation of the Sry-related <i>Sox10</i> gene in <i>Dominant megacolon</i> , a mouse model for human Hirschsprung disease

Beate Herbarth, Véronique Pingault, Nadège Bondurand et al. · Proceedings of the National Academy of Sciences · 1998 · 356 citations · Full text

A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10

Stanislas Lyonnet, Alessandra Bolino, Anna Pelet et al. · Nature Genetics · 1993 · 192 citations

, , +11

Nuclear Run-On Assay Using Biotin Labeling, Magnetic Bead Capture and Analysis by Fluorescence-Based RT-PCR

Giovanna Patrone, Francesca Puppo, Roberto Cusano et al. · BioTechniques · 2000 · 114 citations · Full text

Total colonic aganglionosis associated with interstitial deletion of the long arm of chromosome 10

Giuseppe Martucciello, Maria Patrizia Bicocchi, P Dodero et al. · Pediatric Surgery International · 1992 · 84 citations

, , +3

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