P Ronchetto

Affiliations

Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy.

Publications (9)

'Distal 16p12.2 microdeletion' in a patient with autosomal recessive deafness-22.

Journal of genetics

Avec: Elisa Tassano , Patrizia Ronchetto , Annalisa Calcagno , Patrizia Fiorio , Giorgio Gimelli , Valeria Capra , Marcello Scala

1p31.1 microdeletion including only NEGR1 gene in two patients.

European journal of medical genetics

Avec: Elisa Tassano , Sara Uccella , Thea Giacomini , Patrizia Fiorio , Elisa Tavella , Michela Malacarne , Giorgio Gimelli , Domenico Coviello , Patrizia Ronchetto

Scoliosis with cognitive impairment in a girl with 8q11.21q11.23 microdeletion and SNTG1 disruption.

Bone

Avec: E Tassano , P Ronchetto , M Severino , M T Divizia , M Lerone , S Uccella , L Nobili , E Tavella , C Morerio , D Coviello , M Malacarne

Intragenic duplication of KCNQ5 gene results in aberrant splicing leading to a premature termination codon in a patient with intellectual disability.

European journal of medical genetics

Avec: Giulia Rosti , Elisa Tassano , Simone Bossi , Maria Teresa Divizia , Patrizia Ronchetto , Martina Servetti , Margherita Lerone , Livia Pisciotta , Maria Margherita Mancardi , Edvige Veneselli , Aldamaria Puliti

Interstitial 2q24.2q24.3 Microdeletion: Two New Cases with Similar Clinical Features with the Exception of Profound Deafness.

Cytogenetic and genome research

Avec: Elisa Tassano , Sara Uccella , Patrizia Ronchetto , Joana Soraia Martinheira Da Silva , Silvia Viaggi , Margherita Mancardi , Luca Ramenghi , Alessandra Murri , Marina Biondi , Giorgio Gimelli , Cristina Morerio , Michela Malacarne , Domenico Coviello

17q23.3 de novo microdeletion involving only TANC2 gene: A new case.

European journal of medical genetics

Avec: E Tassano , A Accogli , P Ronchetto , D Tortora , E Tavella , G Gimelli , M Mancardi , M Malacarne , D A Coviello

Expanding the phenotype associated with interstitial 6p25.1p24.3 microdeletion: a new case and review of the literature.

Journal of genetics

Avec: Elisa Tassano , Sara Uccella , Mariasavina Severino , Thea Giacomini , Francesca Nardi , Giorgio Gimelli , Elisa Tavella , Patrizia Ronchetto , Michela Malacarne , Domenico Coviello

Neurodevelopmental Disorders in Patients With Complex Phenotypes and Potential Complex Genetic Basis Involving Non-Coding Genes, and Double CNVs.

Frontiers in genetics

Avec: Martina Servetti , Livia Pisciotta , Elisa Tassano , Maria Cerminara , Lino Nobili , Silvia Boeri , Giulia Rosti , Margherita Lerone , Maria Teresa Divizia , Patrizia Ronchetto , Aldamaria Puliti

An example of parenchymal renal sparing in the context of complex malformations due to a novel mutation in the PBX1 gene.

Birth defects research

Avec: Federica Ruscitti , Maria Cerminara , Maria Iascone , Laura Pezzoli , Giulia Rosti , Ferruccio Romano , Patrizia Ronchetto , Giuseppe Martucciello , Silvia Buratti , Francesca Buffelli , Renata Bocciardi , Aldamaria Puliti , Maria Teresa Divizia

Réseau de co-auteurs

Patrizia Ronchetto 7 collaborations

Elisa Tassano 6 collaborations

Giorgio Gimelli 4 collaborations

Sara Uccella 3 collaborations

Michela Malacarne 3 collaborations

Domenico Coviello 3 collaborations

Giulia Rosti 3 collaborations

Maria Teresa Divizia 3 collaborations

Aldamaria Puliti 3 collaborations

Patrizia Fiorio 2 collaborations

Thea Giacomini 2 collaborations

Elisa Tavella 2 collaborations

E Tassano 2 collaborations

E Tavella 2 collaborations

M Malacarne 2 collaborations

Martina Servetti 2 collaborations

Margherita Lerone 2 collaborations

Livia Pisciotta 2 collaborations

Maria Cerminara 2 collaborations

Annalisa Calcagno 1 collaboration

Valeria Capra 1 collaboration

Marcello Scala 1 collaboration

M Severino 1 collaboration

M T Divizia 1 collaboration

M Lerone 1 collaboration

S Uccella 1 collaboration

L Nobili 1 collaboration

C Morerio 1 collaboration

D Coviello 1 collaboration

Simone Bossi 1 collaboration

Maria Margherita Mancardi 1 collaboration

Edvige Veneselli 1 collaboration

Joana Soraia Martinheira Da Silva 1 collaboration

Silvia Viaggi 1 collaboration

Margherita Mancardi 1 collaboration

Luca Ramenghi 1 collaboration

Alessandra Murri 1 collaboration

Marina Biondi 1 collaboration

Cristina Morerio 1 collaboration

A Accogli 1 collaboration

D Tortora 1 collaboration

G Gimelli 1 collaboration

M Mancardi 1 collaboration

D A Coviello 1 collaboration

Mariasavina Severino 1 collaboration

Francesca Nardi 1 collaboration

Lino Nobili 1 collaboration

Silvia Boeri 1 collaboration

Federica Ruscitti 1 collaboration

Maria Iascone 1 collaboration

Laura Pezzoli 1 collaboration

Ferruccio Romano 1 collaboration

Giuseppe Martucciello 1 collaboration

Silvia Buratti 1 collaboration

Francesca Buffelli 1 collaboration

Renata Bocciardi 1 collaboration