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Le Magnificenze del XVII-XVIII secolo alla Biblioteca Reale di Torino. Catalogo della mostra (Torino, Biblioteca reale, 28 ottobre-15 dicembre 1999)
Giovanna Giacobello Bernard (editor); Andreina Griseri (editor)
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A common haplotype at the 5′ end of the RET proto-oncogene, overrepresented in Hirschsprung patients, is associated with reduced gene expression
Paola Griseri; Tiziana Bachetti; Francesca Puppo; Francesca Lantieri; Roberto Ravazzolo; Marcella Devoto; Isabella Ceccherini
11
Haplotypes of the Human RET Proto-oncogene Associated with Hirschsprung Disease in the Italian Population Derive from a Single Ancestral Combination of Alleles
F. Lantieri; P. Griseri; F. Puppo; R. Campus; G. Martucciello; R. Ravazzolo; M. Devoto; I. Ceccherini
16
Complex pathogenesis of Hirschsprung's disease in a patient with hydrocephalus, vesico-ureteral reflux and a balanced translocation t(3;17)(p12;q11)
Griseri; Paola; Vos; Yvonne; Giorda; Roberto; Gimelli; Stefania; Beri; Silvana; Santamaria; Giuseppe; Mognato; Guendalina; Hofstra; Robert M W; Gimelli; Giorgio; Ceccherini; Isabella
20
A Founding Locus within the RET Proto-Oncogene May Account for a Large Proportion of Apparently Sporadic Hirschsprung Disease and a Subset of Cases of Sporadic Medullary Thyroid Carcinoma
Salud Borrego; Fred A. Wright; Raquel M. Fernández; Nita Williams; Manuel López-Alonso; Ramana Davuluri; Guillermo Antiñolo; Charis Eng
21
A Rare Haplotype of the RET Proto-Oncogene Is a Risk-Modifying Allele in Hirschsprung Disease
Paola Griseri; Barbara Pesce; Giovanna Patrone; Jan Osinga; Francesca Puppo; Monica Sancandi; Robert Hofstra; Giovanni Romeo; Roberto Ravazzolo; Marcella Devoto; Isabella Ceccherini
25
Identifying Candidate Hirschsprung Disease–Associated RET Variants
Grzegorz M. Burzynski; Ilja M. Nolte; Agnes Bronda; Krista K. Bos; Jan Osinga; Ivan Plaza Menacho; Bas Twigt; Saskia Maas; Alice S. Brooks; B.G.M. Joke Verheij; H.C.M. Charles Buys; M.W. Robert Hofstr
27
Association of X-linked hydrocephalus and Hirschsprung disease: Report of a new patient with a mutation in the L1CAM gene
Raquel M. Fernández; Rocío Núñez-Torres; Lutgardo García-Díaz; Juan Carlos de Agustín; Guillermo Antiñolo; Salud Borrego
28
A single-nucleotide polymorphic variant of the RET proto-oncogene is underrepresented in sporadic Hirschsprung disease
Griseri; Paola; Sancandi; Monica; Patrone; Giovanna; Bocciardi; Renata; Hofstra; Robert; Ravazzolo; Roberto; Devoto; Marcella; Romeo; Giovanni; Ceccherini; Isabella
32
An intronic nucleotide variant of the RET proto-oncogene causes Hirschsprung disease by interfering with RNA splicing
Paola Griseri; Michele Mishto; Manuela Priolo; Barbara Pesce; Ben C. J. Hamel; Giovanni Romeo; Roberto Ravazzolo; Isabella Ceccherini