Isabel Llano-Rivas

Affiliations

Department of Genetics, Hospital Universitario de Cruces. Biocruces Bizcaia Health Research Institute, Bizcaia, Spain.

Publications (9)

Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.

Journal of medical genetics

Avec: Elena Martinez-Cayuelas , Fiona Blanco-Kelly , Fermina Lopez-Grondona , Saoud Tahsin Swafiri , Rosario Lopez-Rodriguez , Rebeca Losada-Del Pozo , Ignacio Mahillo-Fernandez , Beatriz Moreno , Maria Rodrigo-Moreno , Didac Casas-Alba , Aitor Lopez-Gonzalez , Sixto García-Miñaúr , Maria Ángeles Mori , Marta Pacio-Minguez , Emi Rikeros-Orozco , Fernando Santos-Simarro , Jaime Cruz-Rojo , Juan Francisco Quesada-Espinosa , Maria Teresa Sanchez-Calvin , Jaime Sanchez-Del Pozo , Raquel Bernado Fonz , Maria Isidoro-Garcia , Irene Ruiz-Ayucar , Maria Isabel Alvarez-Mora , Raquel Blanco-Lago , Begoña De Azua , Jesus Eiris , Juan Jose Garcia-Peñas , Belen Gil-Fournier , Carmen Gomez-Lado , Nadia Irazabal , Vanessa Lopez-Gonzalez , Irene Madrigal , Ignacio Malaga , Beatriz Martinez-Menendez , Soraya Ramiro-Leon , Maria Garcia-Hoyos , Pablo Prieto-Matos , Javier Lopez-Pison , Sergio Aguilera-Albesa , Sara Alvarez , Alberto Fernández-Jaén , Isabel Llano-Rivas , Blanca Gener-Querol , Carmen Ayuso , Ana Arteche-Lopez , Maria Palomares-Bralo , Anna Cueto-González , Irene Valenzuela , Antonio Martinez-Monseny , Isabel Lorda-Sanchez , Berta Almoguera

Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association

Avec: Andrea Domingo-Gallego , Marc Pybus , Gemma Bullich , Mónica Furlano , Laia Ejarque-Vila , Laura Lorente-Grandoso , Patricia Ruiz , Gloria Fraga , Mercedes López González , Juan Alberto Piñero-Fernández , Lidia Rodríguez-Peña , Isabel Llano-Rivas , Raquel Sáez , Anna Bujons-Tur , Gema Ariceta , Lluis Guirado , Roser Torra , Elisabet Ars

Analysis of germline variants in pediatric patients diagnosed with desmoid tumors and nuchal-type fibromas.

Translational pediatrics

Avec: Piedad Alba-Pavón , Itziar Astigarraga , Lide Alaña , Isabel Llano-Rivas , Blanca Gener , Lorena Mosteiro , Ricardo López-Almaraz , Aizpea Echebarria-Barona , Olatz Villate

Prenatal and foetal autopsy findings in glutaric aciduria type II.

Birth defects research

Avec: Adriano Martinez-Aracil , Rebeca Ruiz-Onandi , Alvaro Perez-Rodriguez , Amaia Sagasta , Isabel Llano-Rivas , Guiomar Perez de Nanclares

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment.

American journal of human genetics

Avec: Vincenzo Salpietro , Nancy T Malintan , Isabel Llano-Rivas , Christine G Spaeth , Stephanie Efthymiou , Pasquale Striano , Jana Vandrovcova , Maria C Cutrupi , Roberto Chimenz , Emanuele David , Gabriella Di Rosa , Anna Marce-Grau , Miquel Raspall-Chaure , Elena Martin-Hernandez , Federico Zara , Carlo Minetti , Auteur inconnu , Auteur inconnu , Oscar D Bello , Rita De Zorzi , Sara Fortuna , Andrew Dauber , Mariam Alkhawaja , Tipu Sultan , Kshitij Mankad , Antonio Vitobello , Quentin Thomas , Frederic Tran Mau-Them , Laurence Faivre , Francisco Martinez-Azorin , Carlos E Prada , Alfons Macaya , Dimitri M Kullmann , James E Rothman , Shyam S Krishnakumar , Henry Houlden

RNA Analysis and Clinical Characterization of a Novel Splice Variant in the

Frontiers in pediatrics

Avec: Olatz Villate , Hiart Maortua , María-Isabel Tejada , Isabel Llano-Rivas

Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants.

The Journal of clinical endocrinology and metabolism

Avec: Lucía Sentchordi-Montané , Sara Benito-Sanz , Miriam Aza-Carmona , Arrate Pereda , Manuel Parrón-Pajares , Carolina de la Torre , Gabriela A Vasques , Mariana F A Funari , André M Travessa , Patrícia Dias , Larisa Suarez-Ortega , Jesús González-Buitrago , Nancy Elizabeth Portillo-Najera , Isabel Llano-Rivas , María Martín-Frías , Joaquín Ramírez-Fernández , Jaime Sánchez Del Pozo , Lucía Garzón-Lorenzo , Gabriel A Martos-Moreno , Cristina Alfaro-Iznaola , Inés Mulero-Collantes , Pablo Ruiz-Ocaña , Paula Casano-Sancho , Ana Portela , Lorea Ruiz-Pérez , Angela Del Pozo , Elena Vallespín , Mario Solís , Antônio M Lerario , Isabel González-Casado , Purificación Ros-Pérez , Guiomar Pérez de Nanclares , Alexander A L Jorge , Karen E Heath

Novel Variant in

Genes

Avec: Yerai Vado , Arrate Pereda , Isabel Llano-Rivas , Nerea Gorria-Redondo , Ignacio Díez , Guiomar Perez de Nanclares

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Sayaka Kayumi , Luis A Pérez-Jurado , María Palomares , Sneha Rangu , Sarah E Sheppard , Wendy K Chung , Michael C Kruer , Mira Kharbanda , David J Amor , George McGillivray , Julie S Cohen , Sixto García-Miñaúr , Clare L van Eyk , Kelly Harper , Lachlan A Jolly , Dani L Webber , Christopher P Barnett , Fernando Santos-Simarro , Marta Pacio-Míguez , Angela Del Pozo , Somayeh Bakhtiari , Matthew Deardorff , Holly A Dubbs , Kosuke Izumi , Katheryn Grand , Christopher Gray , Paul R Mark , Elizabeth J Bhoj , Dong Li , Xilma R Ortiz-Gonzalez , Beth Keena , Elaine H Zackai , Ethan M Goldberg , Guiomar Perez de Nanclares , Arrate Pereda , Isabel Llano-Rivas , Ignacio Arroyo , María Ángeles Fernández-Cuesta , Christel Thauvin-Robinet , Laurence Faivre , Aurore Garde , Benoit Mazel , Ange-Line Bruel , Michael L Tress , Eva Brilstra , Amena Smith Fine , Kylie E Crompton , Alexander P A Stegmann , Margje Sinnema , Servi C J Stevens , Joost Nicolai , Gaetan Lesca , Laurence Lion-François , Damien Haye , Nicolas Chatron , Amelie Piton , Mathilde Nizon , Benjamin Cogne , Siddharth Srivastava , Jennifer Bassetti , Candace Muss , Karen W Gripp , Rebecca A Procopio , Francisca Millan , Michelle M Morrow , Melissa Assaf , Andres Moreno-De-Luca , Shelagh Joss , Mark J Hamilton , Marta Bertoli , Nicola Foulds , Shane McKee , Alastair H MacLennan , Jozef Gecz , Mark A Corbett

Réseau de co-auteurs

Guiomar Perez de Nanclares 3 collaborations

Arrate Pereda 3 collaborations

Sixto García-Miñaúr 2 collaborations

Fernando Santos-Simarro 2 collaborations

Olatz Villate 2 collaborations

None None 2 collaborations

Laurence Faivre 2 collaborations

Angela Del Pozo 2 collaborations

Elena Martinez-Cayuelas 1 collaboration

Fiona Blanco-Kelly 1 collaboration

Fermina Lopez-Grondona 1 collaboration

Saoud Tahsin Swafiri 1 collaboration

Rosario Lopez-Rodriguez 1 collaboration

Rebeca Losada-Del Pozo 1 collaboration

Ignacio Mahillo-Fernandez 1 collaboration

Beatriz Moreno 1 collaboration

Maria Rodrigo-Moreno 1 collaboration

Didac Casas-Alba 1 collaboration

Aitor Lopez-Gonzalez 1 collaboration

Maria Ángeles Mori 1 collaboration

Marta Pacio-Minguez 1 collaboration

Emi Rikeros-Orozco 1 collaboration

Jaime Cruz-Rojo 1 collaboration

Juan Francisco Quesada-Espinosa 1 collaboration

Maria Teresa Sanchez-Calvin 1 collaboration

Jaime Sanchez-Del Pozo 1 collaboration

Raquel Bernado Fonz 1 collaboration

Maria Isidoro-Garcia 1 collaboration

Irene Ruiz-Ayucar 1 collaboration

Maria Isabel Alvarez-Mora 1 collaboration

Raquel Blanco-Lago 1 collaboration

Begoña De Azua 1 collaboration

Jesus Eiris 1 collaboration

Juan Jose Garcia-Peñas 1 collaboration

Belen Gil-Fournier 1 collaboration

Carmen Gomez-Lado 1 collaboration

Nadia Irazabal 1 collaboration

Vanessa Lopez-Gonzalez 1 collaboration

Irene Madrigal 1 collaboration

Ignacio Malaga 1 collaboration

Beatriz Martinez-Menendez 1 collaboration

Soraya Ramiro-Leon 1 collaboration

Maria Garcia-Hoyos 1 collaboration

Pablo Prieto-Matos 1 collaboration

Javier Lopez-Pison 1 collaboration

Sergio Aguilera-Albesa 1 collaboration

Sara Alvarez 1 collaboration

Alberto Fernández-Jaén 1 collaboration

Blanca Gener-Querol 1 collaboration

Carmen Ayuso 1 collaboration

Ana Arteche-Lopez 1 collaboration

Maria Palomares-Bralo 1 collaboration

Anna Cueto-González 1 collaboration

Irene Valenzuela 1 collaboration

Antonio Martinez-Monseny 1 collaboration

Isabel Lorda-Sanchez 1 collaboration

Berta Almoguera 1 collaboration

Andrea Domingo-Gallego 1 collaboration

Marc Pybus 1 collaboration

Gemma Bullich 1 collaboration

Mónica Furlano 1 collaboration

Laia Ejarque-Vila 1 collaboration

Laura Lorente-Grandoso 1 collaboration

Patricia Ruiz 1 collaboration

Gloria Fraga 1 collaboration

Mercedes López González 1 collaboration

Juan Alberto Piñero-Fernández 1 collaboration

Lidia Rodríguez-Peña 1 collaboration

Raquel Sáez 1 collaboration

Anna Bujons-Tur 1 collaboration

Gema Ariceta 1 collaboration

Lluis Guirado 1 collaboration

Roser Torra 1 collaboration

Elisabet Ars 1 collaboration

Piedad Alba-Pavón 1 collaboration

Itziar Astigarraga 1 collaboration

Lide Alaña 1 collaboration

Blanca Gener 1 collaboration

Lorena Mosteiro 1 collaboration

Ricardo López-Almaraz 1 collaboration

Aizpea Echebarria-Barona 1 collaboration

Adriano Martinez-Aracil 1 collaboration

Rebeca Ruiz-Onandi 1 collaboration

Alvaro Perez-Rodriguez 1 collaboration

Amaia Sagasta 1 collaboration

Vincenzo Salpietro 1 collaboration

Nancy T Malintan 1 collaboration

Christine G Spaeth 1 collaboration

Stephanie Efthymiou 1 collaboration

Pasquale Striano 1 collaboration

Jana Vandrovcova 1 collaboration

Maria C Cutrupi 1 collaboration

Roberto Chimenz 1 collaboration

Emanuele David 1 collaboration

Gabriella Di Rosa 1 collaboration

Anna Marce-Grau 1 collaboration

Miquel Raspall-Chaure 1 collaboration

Elena Martin-Hernandez 1 collaboration

Federico Zara 1 collaboration

Carlo Minetti 1 collaboration

Oscar D Bello 1 collaboration

Rita De Zorzi 1 collaboration

Sara Fortuna 1 collaboration

Andrew Dauber 1 collaboration

Mariam Alkhawaja 1 collaboration

Tipu Sultan 1 collaboration

Kshitij Mankad 1 collaboration

Antonio Vitobello 1 collaboration

Quentin Thomas 1 collaboration

Frederic Tran Mau-Them 1 collaboration

Francisco Martinez-Azorin 1 collaboration

Carlos E Prada 1 collaboration

Alfons Macaya 1 collaboration

Dimitri M Kullmann 1 collaboration

James E Rothman 1 collaboration

Shyam S Krishnakumar 1 collaboration

Henry Houlden 1 collaboration

Hiart Maortua 1 collaboration

María-Isabel Tejada 1 collaboration

Lucía Sentchordi-Montané 1 collaboration

Sara Benito-Sanz 1 collaboration

Miriam Aza-Carmona 1 collaboration

Manuel Parrón-Pajares 1 collaboration

Carolina de la Torre 1 collaboration

Gabriela A Vasques 1 collaboration

Mariana F A Funari 1 collaboration

André M Travessa 1 collaboration

Patrícia Dias 1 collaboration

Larisa Suarez-Ortega 1 collaboration

Jesús González-Buitrago 1 collaboration

Nancy Elizabeth Portillo-Najera 1 collaboration

María Martín-Frías 1 collaboration

Joaquín Ramírez-Fernández 1 collaboration

Jaime Sánchez Del Pozo 1 collaboration

Lucía Garzón-Lorenzo 1 collaboration

Gabriel A Martos-Moreno 1 collaboration

Cristina Alfaro-Iznaola 1 collaboration

Inés Mulero-Collantes 1 collaboration

Pablo Ruiz-Ocaña 1 collaboration

Paula Casano-Sancho 1 collaboration

Ana Portela 1 collaboration

Lorea Ruiz-Pérez 1 collaboration

Elena Vallespín 1 collaboration

Mario Solís 1 collaboration

Antônio M Lerario 1 collaboration

Isabel González-Casado 1 collaboration

Purificación Ros-Pérez 1 collaboration

Guiomar Pérez de Nanclares 1 collaboration

Alexander A L Jorge 1 collaboration

Karen E Heath 1 collaboration

Yerai Vado 1 collaboration

Nerea Gorria-Redondo 1 collaboration

Ignacio Díez 1 collaboration

Sayaka Kayumi 1 collaboration

Luis A Pérez-Jurado 1 collaboration

María Palomares 1 collaboration

Sneha Rangu 1 collaboration

Sarah E Sheppard 1 collaboration

Wendy K Chung 1 collaboration

Michael C Kruer 1 collaboration

Mira Kharbanda 1 collaboration

David J Amor 1 collaboration

George McGillivray 1 collaboration

Julie S Cohen 1 collaboration

Clare L van Eyk 1 collaboration

Kelly Harper 1 collaboration

Lachlan A Jolly 1 collaboration

Dani L Webber 1 collaboration

Christopher P Barnett 1 collaboration

Marta Pacio-Míguez 1 collaboration

Somayeh Bakhtiari 1 collaboration

Matthew Deardorff 1 collaboration

Holly A Dubbs 1 collaboration

Kosuke Izumi 1 collaboration

Katheryn Grand 1 collaboration

Christopher Gray 1 collaboration

Paul R Mark 1 collaboration

Elizabeth J Bhoj 1 collaboration

Dong Li 1 collaboration

Xilma R Ortiz-Gonzalez 1 collaboration

Beth Keena 1 collaboration

Elaine H Zackai 1 collaboration

Ethan M Goldberg 1 collaboration

Ignacio Arroyo 1 collaboration

María Ángeles Fernández-Cuesta 1 collaboration

Christel Thauvin-Robinet 1 collaboration

Aurore Garde 1 collaboration

Benoit Mazel 1 collaboration

Ange-Line Bruel 1 collaboration

Michael L Tress 1 collaboration

Eva Brilstra 1 collaboration

Amena Smith Fine 1 collaboration

Kylie E Crompton 1 collaboration

Alexander P A Stegmann 1 collaboration

Margje Sinnema 1 collaboration

Servi C J Stevens 1 collaboration

Joost Nicolai 1 collaboration

Gaetan Lesca 1 collaboration

Laurence Lion-François 1 collaboration

Damien Haye 1 collaboration

Nicolas Chatron 1 collaboration

Amelie Piton 1 collaboration

Mathilde Nizon 1 collaboration

Benjamin Cogne 1 collaboration

Siddharth Srivastava 1 collaboration

Jennifer Bassetti 1 collaboration

Candace Muss 1 collaboration

Karen W Gripp 1 collaboration

Rebecca A Procopio 1 collaboration

Francisca Millan 1 collaboration

Michelle M Morrow 1 collaboration

Melissa Assaf 1 collaboration

Andres Moreno-De-Luca 1 collaboration

Shelagh Joss 1 collaboration

Mark J Hamilton 1 collaboration

Marta Bertoli 1 collaboration

Nicola Foulds 1 collaboration

Shane McKee 1 collaboration

Alastair H MacLennan 1 collaboration

Jozef Gecz 1 collaboration

Mark A Corbett 1 collaboration