Showing 1–16 of 16 results
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Research | | Open
Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes
- Elisabetta Di Fede
- , Valentina Massa
- , Bartolomeo Augello
- , Gabriella Squeo
- , Emanuela Scarano
- , Anna Maria Perri
- , Rita Fischetto
- , Francesco Andrea Causio
- , Giuseppe Zampino
- , Maria Piccione
- , Elena Curridori
- , Tommaso Mazza
- , Stefano Castellana
- , Lidia Larizza
- , Filippo Ghelma
- , Elisa Adele Colombo
- , Maria Chiara Gandini
- , Marco Castori
- , Giuseppe Merla
- , Donatella Milani
- & Cristina Gervasini
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A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome
- Theodore G. Drivas
- , Dong Li
- , Divya Nair
- , Joseph T. Alaimo
- , Mariëlle Alders
- , Janine Altmüller
- , Tahsin Stefan Barakat
- , E. Martina Bebin
- , Nicole L. Bertsch
- , Patrick R. Blackburn
- , Alyssa Blesson
- , Arjan M. Bouman
- , Knut Brockmann
- , Perrine Brunelle
- , Margit Burmeister
- , Gregory M. Cooper
- , Jonas Denecke
- , Anne Dieux-Coëslier
- , Holly Dubbs
- , Alejandro Ferrer
- , Danna Gal
- , Lauren E. Bartik
- , Lauren B. Gunderson
- , Linda Hasadsri
- , Mahim Jain
- , Catherine Karimov
- , Beth Keena
- , Eric W. Klee
- , Katja Kloth
- , Baiba Lace
- , Marina Macchiaiolo
- , Julien L. Marcadier
- , Jeff M. Milunsky
- , Melanie P. Napier
- , Xilma R. Ortiz-Gonzalez
- , Pavel N. Pichurin
- , Jason Pinner
- , Zoe Powis
- , Chitra Prasad
- , Francesca Clementina Radio
- , Kristen J. Rasmussen
- , Deborah L. Renaud
- , Eric T. Rush
- , Carol Saunders
- , Duygu Selcen
- , Ann R. Seman
- , Deepali N. Shinde
- , Erica D. Smith
- , Thomas Smol
- , Lot Snijders Blok
- , Joan M. Stoler
- , Sha Tang
- , Marco Tartaglia
- , Michelle L. Thompson
- , Jiddeke M. van de Kamp
- , Jingmin Wang
- , Dagmar Weise
- , Karin Weiss
- , Rixa Woitschach
- , Bernd Wollnik
- , Huifang Yan
- , Elaine H. Zackai
- , Giuseppe Zampino
- , Philippe Campeau
- & Elizabeth Bhoj
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Research |
Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome
- Lisenka ELM Vissers
- , Monica Bonetti
- , Jeroen Paardekooper Overman
- , Willy M Nillesen
- , Suzanna G M Frints
- , Joep de Ligt
- , Giuseppe Zampino
- , Ana Justino
- , José C Machado
- , Marga Schepens
- , Han G Brunner
- , Joris A Veltman
- , Hans Scheffer
- , Piet Gros
- , José L Costa
- , Marco Tartaglia
- , Ineke van der Burgt
- , Helger G Yntema
- & Jeroen den Hertog
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Research |
p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas
- Valentina Pinna
- , Valentina Lanari
- , Paola Daniele
- , Federica Consoli
- , Emanuele Agolini
- , Katia Margiotti
- , Irene Bottillo
- , Isabella Torrente
- , Alessandro Bruselles
- , Caterina Fusilli
- , Anna Ficcadenti
- , Sara Bargiacchi
- , Eva Trevisson
- , Monica Forzan
- , Sandra Giustini
- , Chiara Leoni
- , Giuseppe Zampino
- , Maria Cristina Digilio
- , Bruno Dallapiccola
- , Maurizio Clementi
- , Marco Tartaglia
- & Alessandro De Luca
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Research |
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin
- Hans Christian Hennies
- , Uwe Kornak
- , Haikuo Zhang
- , Johannes Egerer
- , Xin Zhang
- , Wenke Seifert
- , Jirko Kühnisch
- , Birgit Budde
- , Marc Nätebus
- , Francesco Brancati
- , William R Wilcox
- , Dietmar Müller
- , Paige B Kaplan
- , Anna Rajab
- , Giuseppe Zampino
- , Valentina Fodale
- , Bruno Dallapiccola
- , William Newman
- , Kay Metcalfe
- , Jill Clayton-Smith
- , May Tassabehji
- , Beat Steinmann
- , Francis A Barr
- , Peter Nürnberg
- , Peter Wieacker
- & Stefan Mundlos
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Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome
- Marco Tartaglia
- , Len A Pennacchio
- , Chen Zhao
- , Kamlesh K Yadav
- , Valentina Fodale
- , Anna Sarkozy
- , Bhaswati Pandit
- , Kimihiko Oishi
- , Simone Martinelli
- , Wendy Schackwitz
- , Anna Ustaszewska
- , Joel Martin
- , James Bristow
- , Claudio Carta
- , Francesca Lepri
- , Cinzia Neri
- , Isabella Vasta
- , Kate Gibson
- , Cynthia J Curry
- , Juan Pedro López Siguero
- , Maria Cristina Digilio
- , Giuseppe Zampino
- , Bruno Dallapiccola
- , Dafna Bar-Sagi
- & Bruce D Gelb
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Amendments and Corrections |
Correction: Corrigendum: Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome
- ...activation'. In addition, author Giuseppe Zampino should have affiliation 8 ratherthan...
- Marco Tartaglia
- , Len A Pennacchio
- , Chen Zhao
- , Kamlesh K Yadav
- , Valentina Fodale
- , Anna Sarkozy
- , Bhaswati Pandit
- , Kimihiko Oishi
- , Simone Martinelli
- , Wendy Schackwitz
- , Anna Ustaszewska
- , Joel Martin
- , James Bristow
- , Claudio Carta
- , Francesca Lepri
- , Cinzia Neri
- , Isabella Vasta
- , Kate Gibson
- , Cynthia J Curry
- , Juan Pedro López Siguero
- , Maria Cristina Digilio
- , Giuseppe Zampino
- , Bruno Dallapiccola
- , Dafna Bar-Sagi
- & Bruce D Gelb
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A restricted spectrum of NRAS mutations causes Noonan syndrome
- Ion C Cirstea
- , Kerstin Kutsche
- , Radovan Dvorsky
- , Lothar Gremer
- , Claudio Carta
- , Denise Horn
- , Amy E Roberts
- , Francesca Lepri
- , Torsten Merbitz-Zahradnik
- , Rainer König
- , Christian P Kratz
- , Francesca Pantaleoni
- , Maria L Dentici
- , Victoria A Joshi
- , Raju S Kucherlapati
- , Laura Mazzanti
- , Stefan Mundlos
- , Michael A Patton
- , Margherita Cirillo Silengo
- , Cesare Rossi
- , Giuseppe Zampino
- , Cristina Digilio
- , Liborio Stuppia
- , Eva Seemanova
- , Len A Pennacchio
- , Bruce D Gelb
- , Bruno Dallapiccola
- , Alfred Wittinghofer
- , Mohammad R Ahmadian
- , Marco Tartaglia
- & Martin Zenker
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Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy
- Bhaswati Pandit
- , Anna Sarkozy
- , Len A Pennacchio
- , Claudio Carta
- , Kimihiko Oishi
- , Simone Martinelli
- , Edgar A Pogna
- , Wendy Schackwitz
- , Anna Ustaszewska
- , Andrew Landstrom
- , J Martijn Bos
- , Steve R Ommen
- , Giorgia Esposito
- , Francesca Lepri
- , Christian Faul
- , Peter Mundel
- , Juan P López Siguero
- , Romano Tenconi
- , Angelo Selicorni
- , Cesare Rossi
- , Laura Mazzanti
- , Isabella Torrente
- , Bruno Marino
- , Maria C Digilio
- , Giuseppe Zampino
- , Michael J Ackerman
- , Bruno Dallapiccola
- , Marco Tartaglia
- & Bruce D Gelb
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Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair
- Viviana Cordeddu
- , Elia Di Schiavi
- , Len A Pennacchio
- , Avi Ma'ayan
- , Anna Sarkozy
- , Valentina Fodale
- , Serena Cecchetti
- , Alessio Cardinale
- , Joel Martin
- , Wendy Schackwitz
- , Anna Lipzen
- , Giuseppe Zampino
- , Laura Mazzanti
- , Maria C Digilio
- , Simone Martinelli
- , Elisabetta Flex
- , Francesca Lepri
- , Deborah Bartholdi
- , Kerstin Kutsche
- , Giovanni B Ferrero
- , Cecilia Anichini
- , Angelo Selicorni
- , Cesare Rossi
- , Romano Tenconi
- , Martin Zenker
- , Daniela Merlo
- , Bruno Dallapiccola
- , Ravi Iyengar
- , Paolo Bazzicalupo
- , Bruce D Gelb
- & Marco Tartaglia
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