Publicaciones
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Urreizti R, Vissicchio J, Idries M, Cozar M, Rabionet-Janssen R, Donald T, Bhoj EJ, Nomakuchi TT, Shipley SC, Timms AE, Mirzaa GM, Serrano M and Sobering AK.
Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants
AMERICAN JOURNAL OF MEDICAL GENETICS PART A . : .
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Patiño-Salazar JD, Ovejero D, Gabernet M, Martinez-Gil N, Alcaide E, Mellibovsky L, Nogués X, Grinberg-Vaisman DR, Balcells S, Rabionet-Janssen R and Garcia-Giralt N.
Identifying rare variants in genes related to bone phenotypes in a cohort of postmenopausal women
OSTEOPOROSIS INTERNATIONAL . 36(4): 637-644.
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Ovejero D, Garcia-Giralt N, Patiño-Salazar JD, Rabionet-Janssen R and Nogués X.
Focal dermal hypoplasia: a probable underrecognized low bone mass disorder secondary to aberrant Wnt signaling
OSTEOPOROSIS INTERNATIONAL . : 555-559.
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Garcia-Giralt N, Ovejero D, Grinberg-Vaisman DR, Nogues X, Castañeda S, Balcells S and Rabionet-Janssen R.
Assessing the contribution of genes involved in monogenic bone disorders to the etiology of atypical femoral fractures
HUMAN GENOMICS . 18(1): 87-87.
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Centeno-Pla M, Alcaide-Consuegra E, Gibson S, Prat-Planas A, Gutiérrez-Ávila JD, Grinberg-Vaisman DR, Urreizti R, Rabionet-Janssen R and Balcells S.
Subcellular localisation of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome
JOURNAL OF MEDICAL GENETICS . 61(8): 780-782. Nº de citas: 3
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Palma-Milla C, Prat-Planas A, Soengas-Gonda E, Centeno-Pla M, Sánchez-Pozo J, Lazaro-Rodriguez I, Quesada-Espinosa JF, Arteche-Lopez A, Olival J, Pacio-Miguez M, Palomares-Bralo M, Santos-Simarro F, Cancho-Candela R, Vázquez-López M, Seidel V, Martinez-Monseny T, Casas-Alba D, Grinberg-Vaisman DR, Balcells S, Serrano M, Rabionet-Janssen R, Martin MA and Urreizti R.
Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review
PEDIATRIC NEUROLOGY . 155: 8-17.
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Medina-Dols A, Cañellas G, Capó T, Solé M, Mola-Caminal M, Cullell N, Jaume M, Nadal-Salas L, Llinàs J, Gómez L, Tur S, Jiménez C, Díaz RM, Carrera C, Muiño E, Gallego-Fabrega C, Soriano-Tárraga C, Ruiz-Guerra L, Pol-Fuster J, Asensio V, Muncunill J, Fleischer A, Iglesias A, Giralt-Steinhauer E, Lazcano U, Fernández-Pérez I, Jiménez-Balado J, Gabriel-Salazar M, Garcia-Gabilondo M, Lei T, Torres-Aguila NP, Cárcel-Márquez J, Lladó J, Olmos G, Rosell A, Montaner J, Planas AM, Rabionet-Janssen R, Hernández-Guillamon M, Jiménez-Conde J, Fernández-Cadenas I and Vives-Bauzá C.
Role of PATJ in stroke prognosis by modulating endothelial to mesenchymal transition through the Hippo/Notch/PI3K axis
Cell Death Discovery . 10(1): 85-85. Nº de citas: 3
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Blanco G, López-Aventín D, Pujol RM, Gómez-Llonín A, Puiggros A, López-Sánchez M, Estrach T, García-Muret MP, López-Lerma I, Servitje O, Bellosillo B, Muro M, Espinet B, Rabionet-Janssen R and Gallardo F.
High-throughput RNA sequencing of the T cell receptor alpha and beta chains for simultaneous clonality and biological analyses in Sezary syndrome
JOURNAL OF CLINICAL LABORATORY ANALYSIS . 37(23-24): .
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Castilla-Vallmanya L, Centeno-Pla M, Serrano M, Franco-Valls, H, Martinez-Cabrera, R, Prat-Planas, A, Rojano, E, Ranea, JAG, Seoane, P, Oliva-Mussara C, Paredes-Fuentes, AJ, Marfany G, Artuch-Iriberri R, Grinberg-Vaisman DR, Rabionet-Janssen R, Balcells S and Urreizti R.
Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2
JOURNAL OF MEDICAL GENETICS . 60(4): 406-415. Nº de citas: 6
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Martinez-Gil N, Patino-Salazar JD, Rabionet-Janssen R, Grinberg-Vaisman DR and Balcells S.
Genome-wide association studies (GWAS) vs functional validation: the challenge of the post-GWAS era
Revista de Osteoporosis y Metabolismo Mineral . 15(1): 29-39. Nº de citas: 1