All papers authored by Ilaria Parenti
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2023
Sarah E. Sheppard 
,
Laura Bryant ,
Rochelle N. Wickramasekara ,
Courtney Vaccaro,
Brynn Robertson,
Jodi Hallgren ,
Jason Hulen,
Cynthia J. Watson,
Victor Faundes ,
Yannis Duffourd,
Pearl Lee ,
M. Celeste Simon ,
Xavier de la Cruz ,
Natália Padilla ,
Marco Flores-Mendez
and 105 other authors
,
Laura Bryant ,
Rochelle N. Wickramasekara ,
Courtney Vaccaro,
Brynn Robertson,
Jodi Hallgren ,
Jason Hulen,
Cynthia J. Watson,
Victor Faundes ,
Yannis Duffourd,
Pearl Lee ,
M. Celeste Simon ,
Xavier de la Cruz ,
Natália Padilla ,
Marco Flores-Mendez
and 105 other authors
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice
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Antje Kampmeier,
Elsa Leitão,
Ilaria Parenti ,
Jasmin Beygo,
Christel Depienne,
Nuria C. Bramswig,
Tzung-Chien Hsieh,
Alexandra Afenjar,
Stefanie Beck-Wödl,
Ute Grasshoff,
Tobias B. Haack,
Emilia K. Bijlsma,
Claudia Ruivenkamp,
Eva Lausberg,
Miriam Elbracht
and 22 other authors
,
Jasmin Beygo,
Christel Depienne,
Nuria C. Bramswig,
Tzung-Chien Hsieh,
Alexandra Afenjar,
Stefanie Beck-Wödl,
Ute Grasshoff,
Tobias B. Haack,
Emilia K. Bijlsma,
Claudia Ruivenkamp,
Eva Lausberg,
Miriam Elbracht
and 22 other authors
PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals
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2022
Ilaria Parenti ,
Elsa Leitão,
Alma Kuechler,
Laurent Villard,
Cyril Goizet,
Cécile Courdier,
Allan Bayat ,
Alessandra Rossi,
Sophie Julia,
Ange-Line Bruel,
Frédéric Tran Mau-Them,
Sophie Nambot,
Daphné Lehalle,
Marjolaine Willems,
James Lespinasse
and 37 other authors
,
Elsa Leitão,
Alma Kuechler,
Laurent Villard,
Cyril Goizet,
Cécile Courdier,
Allan Bayat ,
Alessandra Rossi,
Sophie Julia,
Ange-Line Bruel,
Frédéric Tran Mau-Them,
Sophie Nambot,
Daphné Lehalle,
Marjolaine Willems,
James Lespinasse
and 37 other authors
The different clinical facets of SYN1-related neurodevelopmental disorders
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Ángela Ascaso,
Ana Latorre-Pellicer,
Beatriz Puisac,
Laura Trujillano ,
María Arnedo,
Ilaria Parenti ,
Elena Llorente,
Juan José Puente-Lanzarote,
Ángel Matute-Llorente,
Ariadna Ayerza-Casas,
Frank J. Kaiser,
Feliciano J. Ramos,
Juan Pié,
Gloria Bueno-Lozano
,
María Arnedo,
Ilaria Parenti ,
Elena Llorente,
Juan José Puente-Lanzarote,
Ángel Matute-Llorente,
Ariadna Ayerza-Casas,
Frank J. Kaiser,
Feliciano J. Ramos,
Juan Pié,
Gloria Bueno-Lozano
Endocrine Evaluation and Homeostatic Model Assessment in Patients with Cornelia de Lange Syndrome
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Elsa Leitão ,
Christopher Schröder,
Ilaria Parenti ,
Carine Dalle,
Agnès Rastetter,
Theresa Kühnel ,
Alma Kuechler,
Sabine Kaya,
Bénédicte Gérard,
Elise Schaefer,
Caroline Nava ,
Nathalie Drouot,
Camille Engel,
Juliette Piard ,
Bénédicte Duban-Bedu
and 22 other authors
Download from doi.org
,
Christopher Schröder,
Ilaria Parenti ,
Carine Dalle,
Agnès Rastetter,
Theresa Kühnel ,
Alma Kuechler,
Sabine Kaya,
Bénédicte Gérard,
Elise Schaefer,
Caroline Nava ,
Nathalie Drouot,
Camille Engel,
Juliette Piard ,
Bénédicte Duban-Bedu
and 22 other authors
Download from doi.org
2021
Ilaria Parenti ,
Frank J. Kaiser
,
Frank J. Kaiser
Cornelia de Lange Syndrome as Paradigm of Chromatinopathies
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Ana Latorre-Pellicer ,
Marta Gil-Salvador ,
Ilaria Parenti ,
Cristina Lucia-Campos,
Laura Trujillano ,
Iñigo Marcos-Alcalde,
María Arnedo,
Ángela Ascaso,
Ariadna Ayerza-Casas,
Rebeca Antoñanzas-Pérez,
Cristina Gervasini,
Maria Piccione ,
Milena Mariani,
Axel Weber,
Deniz Kanber
and 10 other authors
Download from www.nature.com
,
Marta Gil-Salvador ,
Ilaria Parenti ,
Cristina Lucia-Campos,
Laura Trujillano ,
Iñigo Marcos-Alcalde,
María Arnedo,
Ángela Ascaso,
Ariadna Ayerza-Casas,
Rebeca Antoñanzas-Pérez,
Cristina Gervasini,
Maria Piccione ,
Milena Mariani,
Axel Weber,
Deniz Kanber
and 10 other authors
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William Burns ,
Lynne M. Bird,
Delphine Heron,
Boris Keren,
Divya Ramachandra,
Isabelle Thiffault ,
Florencia Del Viso,
Shivarajan Amudhavalli,
Kendra Engleman,
Ilaria Parenti ,
Frank J. Kaiser,
Jolanta Wierzba,
Korbinian M. Riedhammer ,
Susanne Liptay,
Neda Zadeh
and 9 other authors
,
Lynne M. Bird,
Delphine Heron,
Boris Keren,
Divya Ramachandra,
Isabelle Thiffault ,
Florencia Del Viso,
Shivarajan Amudhavalli,
Kendra Engleman,
Ilaria Parenti ,
Frank J. Kaiser,
Jolanta Wierzba,
Korbinian M. Riedhammer ,
Susanne Liptay,
Neda Zadeh
and 9 other authors
Syndromic neurodevelopmental disorder associated with de novo variants in DDX23
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Ilaria Parenti ,
Mark B. Mallozzi,
Irina Hüning,
Cristina Gervasini ,
Alma Kuechler,
Emanuele Agolini ,
Beate Albrecht,
Carolina Baquero‐Montoya,
Axel Bohring,
Nuria C. Bramswig,
Andreas Busche,
Andreas Dalski,
Yiran Guo,
Britta Hanker,
Yorck Hellenbroich
and 25 other authors
,
Mark B. Mallozzi,
Irina Hüning,
Cristina Gervasini ,
Alma Kuechler,
Emanuele Agolini ,
Beate Albrecht,
Carolina Baquero‐Montoya,
Axel Bohring,
Nuria C. Bramswig,
Andreas Busche,
Andreas Dalski,
Yiran Guo,
Britta Hanker,
Yorck Hellenbroich
and 25 other authors
ANKRD11 variants: KBG syndrome and beyond
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Ilaria Parenti ,
Daphné Lehalle,
Caroline Nava,
Stella A. de Man,
Erin Torti,
Elsa Leitão,
Peter M. van Hasselt,
Heidi Cope,
Richard Person,
Vandana Shashi,
Takeshi Mizuguchi,
Jennifer Friedman,
Antonio Vitobello,
Pascal Joset,
Naomichi Matsumoto
and 31 other authors
Download from link.springer.com
,
Daphné Lehalle,
Caroline Nava,
Stella A. de Man,
Erin Torti,
Elsa Leitão,
Peter M. van Hasselt,
Heidi Cope,
Richard Person,
Vandana Shashi,
Takeshi Mizuguchi,
Jennifer Friedman,
Antonio Vitobello,
Pascal Joset,
Naomichi Matsumoto
and 31 other authors
Download from link.springer.com
2020
Nina B. Gold ,
Dong Li ,
Anna Chassevent,
Frank J. Kaiser,
Ilaria Parenti ,
Tim M. Strom,
Feliciano J. Ramos,
Beatriz Puisac,
Juan Pié,
Kirsty McWalter,
Maria J. Guillen Sacoto,
Hong Cui,
Reem Saadeh‐Haddad,
Constance Smith‐Hicks,
Lance Rodan
and 2 other authors
Download from onlinelibrary.wiley.com
,
Dong Li ,
Anna Chassevent,
Frank J. Kaiser,
Ilaria Parenti ,
Tim M. Strom,
Feliciano J. Ramos,
Beatriz Puisac,
Juan Pié,
Kirsty McWalter,
Maria J. Guillen Sacoto,
Hong Cui,
Reem Saadeh‐Haddad,
Constance Smith‐Hicks,
Lance Rodan
and 2 other authors
Download from onlinelibrary.wiley.com
Ilaria Parenti ,
Farah Diab,
Sara Ruiz Gil,
Eskeatnaf Mulugeta,
Valentina Casa,
Riccardo Berutti,
Rutger W. W. Brouwer ,
Valerie Dupé,
Juliane Eckhold,
Elisabeth Graf,
Beatriz Puisac,
Feliciano Ramos,
Thomas Schwarzmayr,
Macarena Moronta Gines,
Thomas van Staveren
and 6 other authors
Download from doi.org
,
Farah Diab,
Sara Ruiz Gil,
Eskeatnaf Mulugeta,
Valentina Casa,
Riccardo Berutti,
Rutger W. W. Brouwer ,
Valerie Dupé,
Juliane Eckhold,
Elisabeth Graf,
Beatriz Puisac,
Feliciano Ramos,
Thomas Schwarzmayr,
Macarena Moronta Gines,
Thomas van Staveren
and 6 other authors
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Ana Latorre-Pellicer ,
Ángela Ascaso,
Laura Trujillano ,
Marta Gil-Salvador ,
Maria Arnedo ,
Cristina Lucia-Campos,
Rebeca Antoñanzas-Pérez,
Iñigo Marcos-Alcalde ,
Ilaria Parenti ,
Gloria Bueno-Lozano ,
Antonio Musio ,
Beatriz Puisac,
Frank J. Kaiser,
Feliciano J. Ramos ,
Paulino Gómez-Puertas
and 1 other authors
,
Ángela Ascaso,
Laura Trujillano ,
Marta Gil-Salvador ,
Maria Arnedo ,
Cristina Lucia-Campos,
Rebeca Antoñanzas-Pérez,
Iñigo Marcos-Alcalde ,
Ilaria Parenti ,
Gloria Bueno-Lozano ,
Antonio Musio ,
Beatriz Puisac,
Frank J. Kaiser,
Feliciano J. Ramos ,
Paulino Gómez-Puertas
and 1 other authors
Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes
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Michael D. Fountain ,
David S. Oleson,
Megan E. Rech,
Lara Segebrecht,
Jill V. Hunter,
John M. McCarthy,
Philip J. Lupo,
Manuel Holtgrewe,
Rocio Moran,
Jill A. Rosenfeld,
Bertrand Isidor,
Cédric Le Caignec,
Margarita S. Saenz,
Robert C. Pedersen,
Thomas M. Morgan
and 41 other authors
Download from www.nature.com
,
David S. Oleson,
Megan E. Rech,
Lara Segebrecht,
Jill V. Hunter,
John M. McCarthy,
Philip J. Lupo,
Manuel Holtgrewe,
Rocio Moran,
Jill A. Rosenfeld,
Bertrand Isidor,
Cédric Le Caignec,
Margarita S. Saenz,
Robert C. Pedersen,
Thomas M. Morgan
and 41 other authors
Download from www.nature.com
2018
Natalia Krawczynska,
Alina Kuzniacka,
Jolanta Wierzba,
Ilaria Parenti ,
Frank J. Kaiser,
Bartosz Wasag
,
Frank J. Kaiser,
Bartosz Wasag
Mosaic Intronic NIPBL Variant in a Family With Cornelia de Lange Syndrome
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2017
Jessica Zuin ,
Valentina Casa,
Jelena Pozojevic,
Petros Kolovos ,
Mirjam C. G. N. van den Hout,
Wilfred F. J. van Ijcken ,
Ilaria Parenti ,
Diana Braunholz,
Yorann Baron,
Erwan Watrin ,
Frank J. Kaiser,
Kerstin S. Wendt
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,
Valentina Casa,
Jelena Pozojevic,
Petros Kolovos ,
Mirjam C. G. N. van den Hout,
Wilfred F. J. van Ijcken ,
Ilaria Parenti ,
Diana Braunholz,
Yorann Baron,
Erwan Watrin ,
Frank J. Kaiser,
Kerstin S. Wendt
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Jelena Pozojevic,
Ilaria Parenti ,
Luitgard Graul-Neumann,
Sara Ruiz Gil,
Erwan Watrin ,
Kerstin S. Wendt,
Ralf Werner,
Tim M. Strom,
Gabriele Gillessen-Kaesbach,
Frank J. Kaiser
,
Luitgard Graul-Neumann,
Sara Ruiz Gil,
Erwan Watrin ,
Kerstin S. Wendt,
Ralf Werner,
Tim M. Strom,
Gabriele Gillessen-Kaesbach,
Frank J. Kaiser
Novel mosaic variants in two patients with Cornelia de Lange syndrome
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