I. Matera

发表

PHOX2B mutations and genetic predisposition to neuroblastoma

G. Tonini, I. Ceccherini, T. Bachetti, 2005, Oncogene.

CENTRAL NERVOUS SYSTEM GENES TO THE DEVELOPMENT OF THE ENTERIC NERVOUS SYSTEM

Berta, Aravinda, Rutger, 2016 .

A sensitized mutagenesis screen identifies Gli3 as a modifier of Sox10 neurocristopathy.

D. Watkins-Chow, W. Pavan, S. Loftus, 2008, Human molecular genetics.

Interstitial deletion of the endothelin-B receptor gene in the spotting lethal (sl) rat.

M. Devoto, D. Cass, G. Romeo, 1995, Human molecular genetics.

Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction

H. Hakonarson, R. Ravazzolo, Yiran Guo, 2016, European Journal of Human Genetics.

Hirschsprung associated GDNF mutations do not prevent RET activation

R. Ravazzolo, R. Bocciardi, I. Ceccherini, 2002, European Journal of Human Genetics.

Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy.

R. Casadio, P. Striano, E. Aronica, 2021, Brain : a journal of neurology.

Novel ACTG2 variants disclose allelic heterogeneity and bi‐allelic inheritance in pediatric chronic intestinal pseudo‐obstruction

G. Mattioli, I. Ceccherini, D. Bordo, 2020, Clinical genetics.

Allele‐Specific Expression at the RET Locus in Blood and Gut Tissue of Individuals Carrying Risk Alleles for Hirschsprung Disease

R. Ravazzolo, X. Miao, M. Musso, 2013, Human mutation.

Brainstem anomalies in two patients affected by congenital central hypoventilation syndrome.

E. Merello, V. Capra, I. Ceccherini, 2006, American journal of respiratory and critical care medicine.

A mouse model of Waardenburg syndrome type IV resulting from an ENU-induced mutation in endothelin 3.

W. Pavan, J. Moran, D. Beier, 2007, Pigment cell research.

The Ret proto-oncogene in the WAG/Rij rat strain: an animal model for inherited C-cell carcinoma?

G. Romeo, I. Ceccherini, I. Matera, 2003, Laboratory animals.

Parental origin and somatic mosaicism of PHOX2B mutations in Congenital Central Hypoventilation Syndrome

R. Ravazzolo, I. Ceccherini, T. Bachetti, 2008, Human mutation.

PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome

R. Ravazzolo, F. Puppo, R. Hennekam, 2004, Journal of Medical Genetics.

Genetics of enteric neuropathies.

S. Borrego, R. Hofstra, M. Benninga, 2016, Developmental biology.

Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

P. Sham, P. Tam, A. Chakravarti, 2017, Genome Biology.

Title Whole exome sequencing coupled with unbiased functionalanalysis reveals new Hirschsprung disease genes

P. Sham, P. Tam, A. Chakravarti, 2017 .

cDNA Sequence and Genomic Structure of the Rat Ret Proto-Oncogene

R. Ravazzolo, A. Puliti, G. Romeo, 2000, DNA sequence : the journal of DNA sequencing and mapping.

Mutational analysis of the RNX gene in congenital central hypoventilation syndrome.

R. Ravazzolo, F. Mosca, L. Gagliardi, 2002, American journal of medical genetics.

Induction of RET Dependent and Independent Pro-Inflammatory Programs in Human Peripheral Blood Mononuclear Cells from Hirschsprung Patients

R. Ravazzolo, W. Pavan, G. Mattioli, 2013, PloS one.

Assignment1 of the HOX11L2 gene to human chromosome band 5q35.1 and of its murine homolog to mouse chromosome bands 11A4–A5 by in situ hybridization

R. Ravazzolo, I. Ceccherini, I. Matera, 2001, Cytogenetic and Genome Research.

Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome.

R. Ravazzolo, I. Ceccherini, T. Bachetti, 2005, Human molecular genetics.

Gpnmb is a melanoblast‐expressed, MITF‐dependent gene

T. Wolfsberg, Seneca L. Bessling, A. McCallion, 2009, Pigment cell & melanoma research.

Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.

Carel Meijers, Dick Tibboel, Jan Osinga, 2005, American journal of human genetics.

Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease.

P. Sham, P. Tam, A. Chakravarti, 2016, Human molecular genetics.

Somatic in frame deletions not involving juxtamembranous cysteine residues strongly activate the RET proto-oncogene

A. Pinchera, M. Pierotti, B. Pasini, 1997, Oncogene.

Radiation hybrids for mapping and cloning DNA sequences of distal 16p

G. Romeo, I. Ceccherini, I. Matera, 1992, Somatic cell and molecular genetics.

Close linkage with the RET protooncogene and boundaries of deletion mutations in autosomal dominant Hirschsprung disease.

M. Devoto, B. Pasini, R. Bocciardi, 1993, Human molecular genetics.

Genetic mapping of the RET protooncogene on rat Chromosome 4

T. Ushijima, M. Nagao, G. Romeo, 1995, Mammalian Genome.

Expression Variability and Function of the RET Gene in Adult Peripheral Blood Mononuclear Cells

R. Ravazzolo, I. Ceccherini, E. Pontarini, 2014, Journal of cellular physiology.

Geldanamycin promotes nuclear localisation and clearance of PHOX2B misfolded proteins containing polyalanine expansions.

R. Ravazzolo, I. Ceccherini, T. Bachetti, 2007, The international journal of biochemistry & cell biology.

PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome

R. Ravazzolo, F. Puppo, R. Hennekam, 2004, Journal of Medical Genetics.

Correction: Induction of RET Dependent and Independent Pro-Inflammatory Programs in Human Peripheral Blood Mononuclear Cells from Hirschsprung Patients

R. Ravazzolo, W. Pavan, G. Mattioli, 2013, PLoS ONE.