Showing 1–16 of 16 results
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Research | | Open
Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications
- Irene Perea-Romero
- , Gema Gordo
- , Ionut F. Iancu
- , Marta Del Pozo-Valero
- , Berta Almoguera
- , Fiona Blanco-Kelly
- , Ester Carreño
- , Belen Jimenez-Rolando
- , Rosario Lopez-Rodriguez
- , Isabel Lorda-Sanchez
- , Inmaculada Martin-Merida
- , Lucia Pérez de Ayala
- , Rosa Riveiro-Alvarez
- , Elvira Rodriguez-Pinilla
- , Saoud Tahsin-Swafiri
- , Maria J. Trujillo-Tiebas
- , Ana Bustamante-Aragones
- , Rocio Cardero-Merlo
- , Ruth Fernandez-Sanchez
- , Jesus Gallego-Merlo
- , Ines Garcia-Vara
- , Ascension Gimenez-Pardo
- , Laura Horcajada-Burgos
- , Fernando Infantes-Barbero
- , Esther Lantero
- , Miguel A. Lopez-Martinez
- , Andrea Martinez-Ramas
- , Lorena Ondo
- , Marta Rodriguez de Alba
- , Carolina Sanchez-Jimeno
- , Camilo Velez-Monsalve
- , Cristina Villaverde
- , Olga Zurita
- , Domingo Aguilera-Garcia
- , Jana Aguirre-Lamban
- , Ana Arteche
- , Diego Cantalapiedra
- , Patricia Fernandez-San Jose
- , Liliana Galbis-Martinez
- , Maria Garcia-Hoyos
- , Carlos Lombardia
- , Maria I. Lopez-Molina
- , Raquel Perez-Carro
- , Luciana R. J. Da Silva
- , Carmen Ramos
- , Rocio Sanchez-Alcudia
- , Iker Sanchez-Navarro
- , Sorina D. Tatu
- , Elena Vallespin
- , Elena Aller
- , Sara Bernal
- , Maria J. Gamundi
- , Gema Garcia-Garcia
- , Inmaculada Hernan
- , Teresa Jaijo
- , Guillermo Antiñolo
- , Montserrat Baiget
- , Miguel Carballo
- , Jose M. Millan
- , Diana Valverde
- , Rando Allikmets
- , Sandro Banfi
- , Frans P. M. Cremers
- , Rob W. J. Collin
- , Elfride De Baere
- , Hakon Hakonarson
- , Susanne Kohl
- , Carlo Rivolta
- , Dror Sharon
- , Maria C. Alonso-Cerezo
- , Maria J. Ballesta-Martinez
- , Sergi Beltran
- , Carmen Benito Lopez
- , Jaume Català-Mora
- , Claudio Catalli
- , Carmen Cotarelo-Perez
- , Miguel Fernandez-Burriel
- , Ana Fontalba-Romero
- , Enrique Galán-Gómez
- , Maria Garcia-Barcina
- , Loida M. Garcia-Cruz
- , Blanca Gener
- , Belen Gil-Fournier
- , Nancy Govea
- , Encarna Guillen-Navarro
- , Ines Hernando Acero
- , Cristina Irigoyen
- , Silvia Izquierdo-Álvarez
- , Isabel Llano-Rivas
- , Maria A. López-Ariztegui
- , Vanesa Lopez-Gonzalez
- , Fermina Lopez-Grondona
- , Loreto Martorell
- , Pilar Mendez-Perez
- , Maria Moreno-Igoa
- , Raluca Oancea-Ionescu
- , Francesc Palau-Martinez
- , Guiomar Perez de Nanclares
- , Feliciano J. Ramos-Fuentes
- , Raquel Rodriguez-Lopez
- , Montserrat Rodriguez-Pedreira
- , Lydia Rodriguez-Peña
- , Berta Rodriguez-Sanchez
- , Jordi Rosell
- , Noemi Rosello
- , Raquel Saez-Villaverde
- , Alfredo Santana
- , Irene Valenzuela-Palafoll
- , Eva Villota-Deleu
- , Blanca Garcia-Sandoval
- , Pablo Minguez
- , Almudena Avila-Fernandez
- , Marta Corton
- & Carmen Ayuso
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Research |
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome
- Gerarda Cappuccio
- , Camille Sayou
- , Pauline Le Tanno
- , Emilie Tisserant
- , Ange-Line Bruel
- , Sara El Kennani
- , Joaquim Sá
- , Karen J. Low
- , Cristina Dias
- , Markéta Havlovicová
- , Miroslava Hančárová
- , Evan E. Eichler
- , Françoise Devillard
- , Sébastien Moutton
- , Julien Van-Gils
- , Christèle Dubourg
- , Sylvie Odent
- , Bénédicte Gerard
- , Amélie Piton
- , Toshiyuki Yamamoto
- , Nobuhiko Okamoto
- , Helen Firth
- , Kay Metcalfe
- , Anna Moh
- , Kimberly A. Chapman
- , Erfan Aref-Eshghi
- , Jennifer Kerkhof
- , Annalaura Torella
- , Vincenzo Nigro
- , Laurence Perrin
- , Juliette Piard
- , Gwenaël Le Guyader
- , Thibaud Jouan
- , Christel Thauvin-Robinet
- , Yannis Duffourd
- , Jaya K. George-Abraham
- , Catherine A. Buchanan
- , Denise Williams
- , Usha Kini
- , Kate Wilson
- , Vincenzo Nigro
- , Nicola Brunetti-Pierri
- , Giorgio Casari
- , Gerarda Cappuccio
- , Annalaura Torella
- , Michele Pinelli
- , Francesco Musacchia
- , Margherita Mutarelli
- , Diego Carrella
- , Giuseppina Vitiello
- , Valeria Capra
- , Giancarlo Parenti
- , Vincenzo Leuzzi
- , Angelo Selicorni
- , Silvia Maitz
- , Sandro Banfi
- , Marcella Zollino
- , Mario Montomoli
- , Donatelli Milani
- , Corrado Romano
- , Albina Tummolo
- , Daniele De Brasi
- , Antonietta Coppola
- , Claudia Santoro
- , Angela Peron
- , Chiara Pantaleoni
- , Raffaele Castello
- , Stefano D’Arrigo
- , Sérgio B. Sousa
- , Raoul C. M. Hennekam
- , Bekim Sadikovic
- , Julien Thevenon
- , Jérôme Govin
- , Antonio Vitobello
- & Nicola Brunetti-Pierri
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Research |
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Amendments and Corrections | | Open
Correction: Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease
- Stijn Van de Sompele
- , Claire Smith
- , Marianthi Karali
- , Marta Corton
- , Kristof Van Schil
- , Frank Peelman
- , Timothy Cherry
- , Toon Rosseel
- , Hannah Verdin
- , Julien Derolez
- , Thalia Van Laethem
- , Kamron N. Khan
- , Martin McKibbin
- , Carmel Toomes
- , Manir Ali
- , Annalaura Torella
- , Francesco Testa
- , Belen Jimenez
- , Francesca Simonelli
- , Julie De Zaeytijd
- , Jenneke Van den Ende
- , Bart P. Leroy
- , Frauke Coppieters
- , Carmen Ayuso
- , Chris F. Inglehearn
- , Sandro Banfi
- & Elfride De Baere
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Research |
microRNAs as biomarkers in Pompe disease
- Antonietta Tarallo
- , Annamaria Carissimo
- , Francesca Gatto
- , Edoardo Nusco
- , Antonio Toscano
- , Olimpia Musumeci
- , Marcella Coletta
- , Marianthi Karali
- , Emma Acampora
- , Carla Damiano
- , Nadia Minopoli
- , Simona Fecarotta
- , Roberto Della Casa
- , Tiziana Mongini
- , Liliana Vercelli
- , Lucio Santoro
- , Lucia Ruggiero
- , Federica Deodato
- , Roberta Taurisano
- , Bruno Bembi
- , Andrea Dardis
- , Sandro Banfi
- , WW Pim Pijnappel
- , Ans T van der Ploeg
- & Giancarlo Parenti
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Research |
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics
- Mubeen Khan
- , Stéphanie S. Cornelis
- , Marta Del Pozo-Valero
- , Laura Whelan
- , Esmee H. Runhart
- , Ketan Mishra
- , Femke Bults
- , Yahya AlSwaiti
- , Alaa AlTalbishi
- , Elfride De Baere
- , Sandro Banfi
- , Eyal Banin
- , Miriam Bauwens
- , Tamar Ben-Yosef
- , Camiel J. F. Boon
- , L. Ingeborgh van den Born
- , Sabine Defoort
- , Aurore Devos
- , Adrian Dockery
- , Lubica Dudakova
- , Ana Fakin
- , G. Jane Farrar
- , Juliana Maria Ferraz Sallum
- , Kaoru Fujinami
- , Christian Gilissen
- , Damjan Glavač
- , Michael B. Gorin
- , Jacquie Greenberg
- , Takaaki Hayashi
- , Ymkje M. Hettinga
- , Alexander Hoischen
- , Carel B. Hoyng
- , Karsten Hufendiek
- , Herbert Jägle
- , Smaragda Kamakari
- , Marianthi Karali
- , Ulrich Kellner
- , Caroline C. W. Klaver
- , Bohdan Kousal
- , Tina M. Lamey
- , Ian M. MacDonald
- , Anna Matynia
- , Terri L. McLaren
- , Marcela D. Mena
- , Isabelle Meunier
- , Rianne Miller
- , Hadas Newman
- , Buhle Ntozini
- , Monika Oldak
- , Marc Pieterse
- , Osvaldo L. Podhajcer
- , Bernard Puech
- , Raj Ramesar
- , Klaus Rüther
- , Manar Salameh
- , Mariana Vallim Salles
- , Dror Sharon
- , Francesca Simonelli
- , Georg Spital
- , Marloes Steehouwer
- , Jacek P. Szaflik
- , Jennifer A. Thompson
- , Caroline Thuillier
- , Anna M. Tracewska
- , Martine van Zweeden
- , Andrea L. Vincent
- , Xavier Zanlonghi
- , Petra Liskova
- , Heidi Stöhr
- , John N. De Roach
- , Carmen Ayuso
- , Lisa Roberts
- , Bernhard H. F. Weber
- , Claire‐Marie Dhaenens
- & Frans P. M. Cremers
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Research |
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Research |
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Research | | Open
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease
- Stijn Van de Sompele
- , Claire Smith
- , Marianthi Karali
- , Marta Corton
- , Kristof Van Schil
- , Frank Peelman
- , Timothy Cherry
- , Toon Rosseel
- , Hannah Verdin
- , Julien Derolez
- , Thalia Van Laethem
- , Kamron N. Khan
- , Martin McKibbin
- , Carmel Toomes
- , Manir Ali
- , Annalaura Torella
- , Francesco Testa
- , Belen Jimenez
- , Francesca Simonelli
- , Julie De Zaeytijd
- , Jenneke Van den Ende
- , Bart P. Leroy
- , Frauke Coppieters
- , Carmen Ayuso
- , Chris F. Inglehearn
- , Sandro Banfi
- & Elfride De Baere
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Research | | Open
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Research | | Open
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients
- Crystel Bonnet
- , Zied Riahi
- , Sandra Chantot-Bastaraud
- , Luce Smagghe
- , Mélanie Letexier
- , Charles Marcaillou
- , Gaëlle M Lefèvre
- , Jean-Pierre Hardelin
- , Aziz El-Amraoui
- , Amrit Singh-Estivalet
- , Saddek Mohand-Saïd
- , Susanne Kohl
- , Anne Kurtenbach
- , Ieva Sliesoraityte
- , Ditta Zobor
- , Souad Gherbi
- , Francesco Testa
- , Francesca Simonelli
- , Sandro Banfi
- , Ana Fakin
- , Damjan Glavač
- , Martina Jarc-Vidmar
- , Andrej Zupan
- , Saba Battelino
- , Loreto Martorell Sampol
- , Maria Antonia Claveria
- , Jaume Catala Mora
- , Shzeena Dad
- , Lisbeth B Møller
- , Jesus Rodriguez Jorge
- , Marko Hawlina
- , Alberto Auricchio
- , José-Alain Sahel
- , Sandrine Marlin
- , Eberhart Zrenner
- , Isabelle Audo
- & Christine Petit
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Research |
Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity
- Nicole T M Saksens
- , Mark P Krebs
- , Frederieke E Schoenmaker-Koller
- , Wanda Hicks
- , Minzhong Yu
- , Lanying Shi
- , Lucy Rowe
- , Gayle B Collin
- , Jeremy R Charette
- , Stef J Letteboer
- , Kornelia Neveling
- , Tamara W van Moorsel
- , Sleiman Abu-Ltaif
- , Elfride De Baere
- , Sophie Walraedt
- , Sandro Banfi
- , Francesca Simonelli
- , Frans P M Cremers
- , Camiel J F Boon
- , Ronald Roepman
- , Bart P Leroy
- , Neal S Peachey
- , Carel B Hoyng
- , Patsy M Nishina
- & Anneke I den Hollander
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