Letizia Camerota

Affiliations

Human Genetics Institute, Department of Life, Health, and Environmental Sciences, University of L'Aquila, 67100 L'Aquila, Italy. letizia.camerota@guest.univaq.it.

Publications (7)

Genotypic Categorization of Loeys-Dietz Syndrome Based on 24 Novel Families and Literature Data.

Genes

Avec: Letizia Camerota , Marco Ritelli , Anita Wischmeijer , Silvia Majore , Valeria Cinquina , Paola Fortugno , Rosanna Monetta , Laura Gigante , Marfan Syndrome Study Group Tor Vergata University Hospital , Federica Carla Sangiuolo , Giuseppe Novelli , Marina Colombi , Francesco Brancati

Craniosynostosis is a feature of CHD7-related CHARGE syndrome.

American journal of medical genetics. Part A

Avec: Chiara De Luca , Simonetta Picone , Matteo Cassina , Simone Marziali , Silvia Morlino , Letizia Camerota , Gianpiero Tamburrini , Marco Castori , Piermichele Paolillo , Leonardo Salviati , Francesco Brancati

Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome.

Human genetics

Avec: Dong Li , Michael E March , Paola Fortugno , Liza L Cox , Leticia S Matsuoka , Rosanna Monetta , Christoph Seiler , Louise C Pyle , Emma C Bedoukian , María José Sánchez-Soler , Oana Caluseriu , Katheryn Grand , Allison Tam , Alicia R P Aycinena , Letizia Camerota , Yiran Guo , Patrick Sleiman , Bert Callewaert , Candy Kumps , Annelies Dheedene , Michael Buckley , Edwin P Kirk , Anne Turner , Benjamin Kamien , Chirag Patel , Meredith Wilson , Tony Roscioli , John Christodoulou , Timothy C Cox , Elaine H Zackai , Francesco Brancati , Hakon Hakonarson , Elizabeth J Bhoj

Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy.

Neurology

Avec: Andrea Accogli , Gert Wiegand , Marcello Scala , Caterina Cerminara , Michele Iacomino , Antonella Riva , Barbara Carlini , Letizia Camerota , Vincenzo Belcastro , Paolo Prontera , Alberto Fernández-Jaén , Nerses Bebek , Paolo Scudieri , Simona Baldassari , Vincenzo Salpietro , Giuseppe Novelli , Chiara De Luca , Celina von Stülpnagel , Felicitas Kluger , Gerhard Josef Kluger , Gabriele Christine Wohlrab , Georgia Ramantani , David Lewis-Smith , Rhys H Thomas , Ming Lai , Alberto Verrotti , Salvatore Striano , Christel Depienne , Carlo Minetti , Fabio Benfenati , Francesco Brancati , Federico Zara , Pasquale Striano

Tremor is a major feature of 9p13 deletion syndrome.

American journal of medical genetics. Part A

Avec: Susana Isabel Ferreira , Giacomo Cinnirella , Lina Ramos , Antonio Suppa , Luís Miguel Pires , Anna Maria Nardone , Letizia Camerota , Silvia Lanciotti , Cinzia Galasso , Fernando De Maio , Joana Barbosa de Melo , Isabel Marques Carreira , Francesco Brancati

Recessive mutations in the neuronal isoforms of DST, encoding dystonin, lead to abnormal actin cytoskeleton organization and HSAN type VI.

Human mutation

Avec: Paola Fortugno , Francesco Angelucci , Gianluca Cestra , Letizia Camerota , Angelo Salvatore Ferraro , Sonia Cordisco , Luigi Uccioli , Daniele Castiglia , Barbara De Angelis , Ingo Kurth , Uwe Kornak , Francesco Brancati

Loss-of-function variants in myocardin cause congenital megabladder in humans and mice.

The Journal of clinical investigation

Avec: Arjan C Houweling , Glenda M Beaman , Alex V Postma , T Blair Gainous , Klaske D Lichtenbelt , Francesco Brancati , Filipa M Lopes , Ingeborg van der Made , Abeltje M Polstra , Michael L Robinson , Kevin D Wright , Jamie M Ellingford , Ashley R Jackson , Eline Overwater , Rita Genesio , Silvio Romano , Letizia Camerota , Emanuela D'Angelo , Elizabeth J Meijers-Heijboer , Vincent M Christoffels , Kirk M McHugh , Brian L Black , William G Newman , Adrian S Woolf , Esther E Creemers

Réseau de co-auteurs

Francesco Brancati 7 collaborations

Paola Fortugno 3 collaborations

Rosanna Monetta 2 collaborations

Giuseppe Novelli 2 collaborations

Chiara De Luca 2 collaborations

Marco Ritelli 1 collaboration

Anita Wischmeijer 1 collaboration

Silvia Majore 1 collaboration

Valeria Cinquina 1 collaboration

Laura Gigante 1 collaboration

None Marfan Syndrome Study Group Tor Vergata University Hospital 1 collaboration

Federica Carla Sangiuolo 1 collaboration

Marina Colombi 1 collaboration

Simonetta Picone 1 collaboration

Matteo Cassina 1 collaboration

Simone Marziali 1 collaboration

Silvia Morlino 1 collaboration

Gianpiero Tamburrini 1 collaboration

Marco Castori 1 collaboration

Piermichele Paolillo 1 collaboration

Leonardo Salviati 1 collaboration

Dong Li 1 collaboration

Michael E March 1 collaboration

Liza L Cox 1 collaboration

Leticia S Matsuoka 1 collaboration

Christoph Seiler 1 collaboration

Louise C Pyle 1 collaboration

Emma C Bedoukian 1 collaboration

María José Sánchez-Soler 1 collaboration

Oana Caluseriu 1 collaboration

Katheryn Grand 1 collaboration

Allison Tam 1 collaboration

Alicia R P Aycinena 1 collaboration

Yiran Guo 1 collaboration

Patrick Sleiman 1 collaboration

Bert Callewaert 1 collaboration

Candy Kumps 1 collaboration

Annelies Dheedene 1 collaboration

Michael Buckley 1 collaboration

Edwin P Kirk 1 collaboration

Anne Turner 1 collaboration

Benjamin Kamien 1 collaboration

Chirag Patel 1 collaboration

Meredith Wilson 1 collaboration

Tony Roscioli 1 collaboration

John Christodoulou 1 collaboration

Timothy C Cox 1 collaboration

Elaine H Zackai 1 collaboration

Hakon Hakonarson 1 collaboration

Elizabeth J Bhoj 1 collaboration

Andrea Accogli 1 collaboration

Gert Wiegand 1 collaboration

Marcello Scala 1 collaboration

Caterina Cerminara 1 collaboration

Michele Iacomino 1 collaboration

Antonella Riva 1 collaboration

Barbara Carlini 1 collaboration

Vincenzo Belcastro 1 collaboration

Paolo Prontera 1 collaboration

Alberto Fernández-Jaén 1 collaboration

Nerses Bebek 1 collaboration

Paolo Scudieri 1 collaboration

Simona Baldassari 1 collaboration

Vincenzo Salpietro 1 collaboration

Celina von Stülpnagel 1 collaboration

Felicitas Kluger 1 collaboration

Gerhard Josef Kluger 1 collaboration

Gabriele Christine Wohlrab 1 collaboration

Georgia Ramantani 1 collaboration

David Lewis-Smith 1 collaboration

Rhys H Thomas 1 collaboration

Ming Lai 1 collaboration

Alberto Verrotti 1 collaboration

Salvatore Striano 1 collaboration

Christel Depienne 1 collaboration

Carlo Minetti 1 collaboration

Fabio Benfenati 1 collaboration

Federico Zara 1 collaboration

Pasquale Striano 1 collaboration

Susana Isabel Ferreira 1 collaboration

Giacomo Cinnirella 1 collaboration

Lina Ramos 1 collaboration

Antonio Suppa 1 collaboration

Luís Miguel Pires 1 collaboration

Anna Maria Nardone 1 collaboration

Silvia Lanciotti 1 collaboration

Cinzia Galasso 1 collaboration

Fernando De Maio 1 collaboration

Joana Barbosa de Melo 1 collaboration

Isabel Marques Carreira 1 collaboration

Francesco Angelucci 1 collaboration

Gianluca Cestra 1 collaboration

Angelo Salvatore Ferraro 1 collaboration

Sonia Cordisco 1 collaboration

Luigi Uccioli 1 collaboration

Daniele Castiglia 1 collaboration

Barbara De Angelis 1 collaboration

Ingo Kurth 1 collaboration

Uwe Kornak 1 collaboration

Arjan C Houweling 1 collaboration

Glenda M Beaman 1 collaboration

Alex V Postma 1 collaboration

T Blair Gainous 1 collaboration

Klaske D Lichtenbelt 1 collaboration

Filipa M Lopes 1 collaboration

Ingeborg van der Made 1 collaboration

Abeltje M Polstra 1 collaboration

Michael L Robinson 1 collaboration

Kevin D Wright 1 collaboration

Jamie M Ellingford 1 collaboration

Ashley R Jackson 1 collaboration

Eline Overwater 1 collaboration

Rita Genesio 1 collaboration

Silvio Romano 1 collaboration

Emanuela D'Angelo 1 collaboration

Elizabeth J Meijers-Heijboer 1 collaboration

Vincent M Christoffels 1 collaboration

Kirk M McHugh 1 collaboration

Brian L Black 1 collaboration

William G Newman 1 collaboration

Adrian S Woolf 1 collaboration

Esther E Creemers 1 collaboration