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1

Looking into the genetic bases of OCD dimensions: a pilot genome-wide association study

Alemany-Navarro, MarÃa, Cruz, Raquel, Real, Eva, SegalÃ s, Cinto, BertolÃn, Sara, Rabionet, Raquel, Carracedo, Ãngel, MenchÃ³n, Jose M., Alonso, Pino

Journal:

Translational Psychiatry

Year:

2020

File:

PDF, 962 KB

2020

2

Experimental investigations of the bed evolution in wave flumes: Performance of 2D and 3D optical systems

Enrico Foti, Ivan Cáceres Rabionet, Alberto Marini, Rosaria E. Musumeci, Agustín Sánchez-Arcilla

Journal:

Coastal Engineering

Year:

2011

Language:

english

File:

PDF, 2.77 MB

english, 2011

3

Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene

R. Rabionet, L. Zelante, N. López-Bigas, L. D'Agruma, S. Melchionda, G. Restagno, M.L. Arbonés, P. Gasparini, X. Estivill

Journal:

Year:

2000

Language:

english

File:

PDF, 36 KB

english, 2000

4

Connexin-26 mutations in sporadic and inherited sensorineural deafness

Xavier Estivill, Paolo Fortina, Saul Surrey, Raquel Rabionet, Salvatore Melchionda, Leonardo D'Agruma, Elaine Mansfield, Eric Rappaport, Nancy Govea, Montse Milà, Leopoldo Zelante, Paolo Gasparini

Journal:

Year:

1998

Language:

english

File:

PDF, 100 KB

english, 1998

5

Ceramide synthesis in the epidermis

Rabionet, Mariona, Gorgas, Karin, Sandhoff, Roger

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids

Year:

2014

Language:

english

File:

PDF, 4.29 MB

english, 2014

6

An Integrated Data Resource for Genomic Analysis of Cutaneous T-Cell Lymphoma

Chang, Li-Wei, Patrone, Christina Chung, Yang, Wei, Rabionet, Raquel, Gallardo, Fernando, Espinet, Blanca, Sharma, Mukesh K., Girardi, Michael, Tensen, Cornelis P., Vermeer, Maarten, Geskin, Larisa J.

Journal:

The Journal of Investigative Dermatology

Year:

2018

Language:

english

File:

PDF, 179 KB

english, 2018

7

eDiVA – Classification and Prioritization of Pathogenic Variants for Clinical Diagnostics

Bosio, Mattia, Drechsel, Oliver, Rahman, Rubayte, Muyas, Francesc, Rabionet, Raquel, Bezdan, Daniela, Domenech Salgado, Laura, Hor, Hyun‐Gyu, Schott, Jean‐Jacques, Munell, Francina, Colobran, Roger, M

Journal:

Year:

2019

Language:

english

File:

PDF, 5.20 MB

english, 2019

8

3D-printed Tubular Scaffolds for Vascular Tissue Engineering

Rabionet, Marc, Guerra, Antonio Jesús, Puig, Teresa, Ciurana, Joaquim

Journal:

Year:

2018

Language:

english

File:

PDF, 674 KB

english, 2018

9

Splice-site mutation in the PDS gene may result in intrafamilial variability for deafness in Pendred syndrome

Núria López-Bigas, Raquel Rabionet, Rafael de Cid, Nancy Govea, Paolo Gasparini, Leopoldo Zelante, Maria Lourdes Arbonés, Xavier Estivill

Journal:

Year:

1999

Language:

english

File:

PDF, 333 KB

english, 1999

10

Identification of seven novel SNPS (five nucleotide and two amino acid substitutions) in the connexin31 (GJB3) gene

Núria López-Bigas, Raquel Rabionet, Elisabeth Martínez, Isabel Banchs, Víctor Volpini, Jeffery M. Vance, Maria Lourdes Arbonés, Xavier Estivill

Journal:

Year:

2000

Language:

english

File:

PDF, 16 KB

english, 2000

11

Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins

Raquel Rabionet, Paolo Gasparini, Xavier Estivill

Journal:

Year:

2000

Language:

english

File:

PDF, 449 KB

english, 2000

12

Association and gene–gene interaction of SLC6A4 and ITGB3 in autism

D.Q. Ma, R. Rabionet, I. Konidari, J. Jaworski, H.N. Cukier, H.H. Wright, R.K. Abramson, J.R. Gilbert, M.L. Cuccaro, M.A. Pericak-Vance, E.R. Martin

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2010

Language:

english

File:

PDF, 106 KB

english, 2010

13

Deletion of the late cornified envelope genes, LCE3C and LCE3B, is associated with rheumatoid arthritis

Elisa Docampo, Raquel Rabionet, Eva Riveira-Muñoz, Georgia Escaramís, Antonio Julià, Sara Marsal, José Ezequiel Martín, Miguel Angel González-Gay, Alejandro Balsa, Enrique Raya, Javier Martín, Xavier

Journal:

Arthritis & Rheumatism

Year:

2010

Language:

english

File:

PDF, 68 KB

english, 2010

14

Ceramide synthase 3 and the biosynthesis of sphingolipids with very long chain fatty acids

Mariona Rabionet, Walter Nickel, Hermann-Josef Gröne, Roger Sandhoff

Journal:

Chemistry and Physics of Lipids

Year:

2009

Language:

english

File:

PDF, 57 KB

english, 2009

15

Ceramide synthase 3 is really a longevity assurance gene!

Mariona Rabionet, Richard Jennemann, Karin Gorgas, Hermann-Josef Gröne, Roger Sandhoff

Journal:

Chemistry and Physics of Lipids

Year:

2010

Language:

english

File:

PDF, 65 KB

english, 2010

16

In vitro evaluation of osteoblast-like cells on hydroxyapatite-coated porous stainless steel implants by synchrotron radiation x-ray fluorescence

Mariona Rabionet, Jay Arre Toque, Ari Ide-Ektessabi

Journal:

X-Ray Spectrometry

Year:

2009

Language:

english

File:

PDF, 190 KB

english, 2009

17

Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients

Marie Wattenhofer, Mario Di Iorio, Raquel Rabionet, Loretta Dougherty, Andreas Pampanos, Torsten Schwede, Barbara Montserrat-Sentis, Maria Arbones, Theofilos Iliades, Annamaria Pasquadibisceglie, Marc

Journal:

Journal of Molecular Medicine

Year:

2002

Language:

english

File:

PDF, 169 KB

english, 2002

18

Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression.

Eva Thönnissen, Raquel Rabionet, Maria Arbonès, Xavier Estivill, Klaus Willecke, Thomas Ott

Journal:

Year:

2002

Language:

english

File:

PDF, 188 KB

english, 2002

19

Novel variants identified in methyl-CpG-binding domain genes in autistic individuals

Holly N. Cukier, Raquel Rabionet, Ioanna Konidari, Melissa Y. Rayner-Evans, Mary L. Baltos, Harry H. Wright, Ruth K. Abramson, Eden R. Martin, Michael L. Cuccaro, Margaret A. Pericak-Vance, John R. Gi

Journal:

Year:

2010

Language:

english

File:

PDF, 328 KB

english, 2010

20

Ceramide synthase 3 and the biosynthesis of sphingolipids with very long chain fatty acids

Mariona Rabionet, Walter Nickel, Hermann-Josef Gröne, Roger Sandhoff

Journal:

Chemistry and Physics of Lipids

Year:

2009

Language:

english

File:

PDF, 63 KB

english, 2009

21

DNA methylation in neurodegenerative disorders: a missing link between genome and environment?

S Iraola-Guzmán, X Estivill, R Rabionet

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 816 KB

english, 2011

22

10.1038/12612

Gasparini, Paolo, Grifa, Anna, Wagner, Carsten A., D'Ambrosio, Lucrezia, Melchionda, Salvatore, Bernardi, Francesco, Lopez-Bigas, Nuria, Rabionet, Raquel, Arbones, Mariona, Monica, Matteo Della, Estiv

Journal:

Nature Genetics

Year:

1999

Language:

english

File:

PDF, 246 KB

english, 1999

23

High carrier frequency of the 35delG deafness mutation in European populations

Gasparini, Paolo, Rabionet, Raquel, Barbujani, Guido, Melchionda, Salvatore, Petersen, Michael, Brøndum-Nielsen, Karen, Metspalu, Andres, Oitmaa, Eneli, Pisano, Marina, Fortina, Paolo

Journal:

European Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 273 KB

english, 2000

24

Acquired inv(9): what is its significance?

Jaime L. Betz, Ahmed S. Behairy, Pedro Rabionet, Budi Tirtorahardjo, Mathew W. Moore, Philip D. Cotter

Journal:

Cancer Genetics and Cytogenetics

Year:

2005

Language:

english

File:

PDF, 159 KB

english, 2005

25

Association of Neurexin 3 polymorphisms with smoking behavior

E. Docampo, M. Ribasés, M. Gratacòs, E. Bruguera, C. Cabezas, C. Sánchez-Mora, G. Nieva, D. Puente, J. M. Argimon-Pallàs, M. Casas, R. Rabionet, X. Estivill

Journal:

Genes, Brain and Behavior

Year:

2012

Language:

english

File:

PDF, 765 KB

english, 2012

26

Are MYO1C and MYO1F associated with hearing loss?

Cristina Zadro, Maria Stella Alemanno, Emanuele Bellacchio, Romina Ficarella, Francesca Donaudy, Salvatore Melchionda, Leopoldo Zelante, Raquel Rabionet, Nele Hilgert, Xavier Estivill, Guy Van Camp, P

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

2009

Language:

english

File:

PDF, 705 KB

english, 2009

27

Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment

Ester Ballana, Estela Morales, Raquel Rabionet, Bàrbara Montserrat, Marina Ventayol, Olga Bravo, Paolo Gasparini, Xavier Estivill

Journal:

Biochemical and Biophysical Research Communications

Year:

2006

Language:

english

File:

PDF, 701 KB

english, 2006

28

Analysis of the autism chromosome 2 linkage region: GAD1 and other candidate genes

Raquel Rabionet, James M. Jaworski, Allison E. Ashley-Koch, Eden R. Martin, James S. Sutcliffe, Jonathan L. Haines, G. Robert DeLong, Ruth K. Abramson, Harry H. Wright, Michael L. Cuccaro, John R. Gil

Journal:

Neuroscience Letters

Year:

2004

Language:

english

File:

PDF, 170 KB

english, 2004

29

Connexin mutations in hearing loss, dermatological and neurological disorders

Raquel Rabionet, Núria López-Bigas, Maria Lourdes Arbonès, Xavier Estivill

Journal:

Trends in Molecular Medicine

Year:

2002

Language:

english

File:

PDF, 968 KB

english, 2002

30

The A1555G Mutation in the 12S rRNA Gene of Human mtDNA: Recurrent Origins and Founder Events in Families Affected by Sensorineural Deafness

Antonio Torroni, Fulvio Cruciani, Chiara Rengo, Daniele Sellitto, Núria López-Bigas, Raquel Rabionet, Nancy Govea, Adolfo López de Munain, Maritza Sarduy, Lourdes Romero, Manuela Villamar, Ignacio del

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 107 KB

english, 1999

31

Mutations in the Mitochondrial tRNA Ser(UCN) and in the GJB2 (Connexin 26) Gene Are Not Modifiers of the Age at Onset or Severity of Hearing Loss in Spanish Patients with the 12S rRNA A1555G Mutation

N. López-Bigas, R. Rabionet, E. Martinez, O. Bravo, J. Girons, A. Borragan, M. Pellicer, M.L. Arbonés, X. Estivill

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 48 KB

english, 2000

32

MYO6, the Human Homologue of the Gene Responsible for Deafness in Snell’s Waltzer Mice, Is Mutated in Autosomal Dominant Nonsyndromic Hearing Loss

Salvatore Melchionda, Nadav Ahituv, Luigi Bisceglia, Tama Sobe, Fabian Glaser, Raquel Rabionet, Maria Lourdes Arbones, Angelo Notarangelo, Enzo Di Iorio, Massimo Carella, Leopoldo Zelante, Xavier Esti

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 844 KB

english, 2001

33

PHP68 CONSUMERS' KNOWLEDGE OF GENERIC OTCS: A PHARMACIST INTERVENTION STUDY

CJ Exaus, N Sangasubana, N Borja-Hart, G Alvarez, AR Selagea, J Rodriguez, S Rabionet, JL Calderon

Journal:

Value in Health

Year:

2010

Language:

english

File:

PDF, 76 KB

english, 2010

34

Molecular basis of childhood deafness resulting from mutations in theGJB2(connexin

R. Rabionet,L. Zelante,N. López-Bigas,L. D'Agruma,S. Melchionda…

Journal:

Year:

2000

Language:

english

File:

PDF, 36 KB

english, 2000

35

Human genetics branches out in Barcelona

Raquel Rabionet, Yolanda Espinosa-Parrilla, Xavier Estivill

Journal:

Year:

2008

Language:

english

File:

PDF, 56 KB

english, 2008

36

A common 56-kilobase deletion in a primate-specific segmental duplication creates a novel butyrophilin-like protein

Aigner, Johanna, Villatoro, Sergi, Rabionet, Raquel, Roquer, Jaume, Jiménez-Conde, Jordi, Martí, Eulàlia, Estivill, Xavier

Journal:

Year:

2013

Language:

english

File:

PDF, 876 KB

english, 2013

37

Técnica quirúrgica modificada en la Enfermedad de La Peyronie. Nuestra experiencia

Candebat Montero, L.H., Barbosa Ramos, F., Rabionet Carballo, F., González Ferro, I., Tamayo Tamyo, I., Giraudy Simón, G.

Journal:

Actas Urológicas Españolas (Spanish Edition)

Year:

2008

File:

PDF, 303 KB

2008

38

Efficient application of next-generation sequencing for the diagnosis of rare genetic syndromes

Madrigal, I., Alvarez-Mora, M. I., Karlberg, O., Rodriguez-Revenga, L., Elurbe, D. M., Rabionet, R., Mur, A., Pie, J., Ballesta, F., Sauer, S., Syvanen, A.-C., Mila, M.

Journal:

Journal of Clinical Pathology

Year:

2014

Language:

english

File:

PDF, 1.39 MB

english, 2014

39

MicroRNA profiling of Parkinson's disease brains identifies early downregulation of miR-34b/c which modulate mitochondrial function

Minones-Moyano, E., Porta, S., Escaramis, G., Rabionet, R., Iraola, S., Kagerbauer, B., Espinosa-Parrilla, Y., Ferrer, I., Estivill, X., Marti, E.

Journal:

Human Molecular Genetics

Year:

2011

Language:

english

File:

PDF, 505 KB

english, 2011

40

1-O-acylceramides are natural components of human and mouse epidermis

Rabionet, M., Bayerle, A., Marsching, C., Jennemann, R., Grone, H.-J., Yildiz, Y., Wachten, D., Shaw, W., Shayman, J. A., Sandhoff, R.

Journal:

The Journal of Lipid Research

Year:

2013

Language:

english

File:

PDF, 1.64 MB

english, 2013

41

Zeb1 affects epithelial cell adhesion by diverting glycosphingolipid metabolism

Mathow, D., Chessa, F., Rabionet, M., Kaden, S., Jennemann, R., Sandhoff, R., Grone, H.-J., Feuerborn, A.

Journal:

Year:

2015

Language:

english

File:

PDF, 1.12 MB

english, 2015

42

NOT THAT RIGID MIDGETS AND NOT SO FLEXIBLE GIANTS: ON THE ABUNDANCE AND ROLES OF INTRINSIC DISORDER IN SHORT AND LONG PROTEINS

HOWELL, MARK, GREEN, RYAN, KILLEEN, ALEXIS, WEDDERBURN, LAMAR, PICASCIO, VINCENT, RABIONET, ALEJANDRO, PENG, ZHENLING, LARINA, MAYA, XUE, BIN, KURGAN, LUKASZ, UVERSKY, VLADIMIR N.

Journal:

Journal of Biological System

Year:

2012

Language:

english

File:

PDF, 1.41 MB

english, 2012

43

Male Germ Cells Require Polyenoic Sphingolipids with Complex Glycosylation for Completion of Meiosis: A LINK TO CERAMIDE SYNTHASE-3

Rabionet, M., van der Spoel, A. C., Chuang, C.-C., von Tumpling-Radosta, B., Litjens, M., Bouwmeester, D., Hellbusch, C. C., Korner, C., Wiegandt, H., Gorgas, K., Platt, F. M., Grone, H.-J., Sandhoff,

Journal:

Journal of Biological Chemistry

Year:

2008

Language:

english

File:

PDF, 1.68 MB

english, 2008

44

The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome

Sailani, M. R., Makrythanasis, P., Valsesia, A., Santoni, F. A., Deutsch, S., Popadin, K., Borel, C., Migliavacca, E., Sharp, A. J., Duriaux Sail, G., Falconnet, E., Rabionet, K., Serra-Juhe, C., Vica

Journal:

Genome Research

Year:

2013

Language:

english

File:

PDF, 812 KB

english, 2013

45

Renal sulfatides: sphingoid base-dependent localization and region-specific compensation of CerS2-dysfunction

Marsching, C., Rabionet, M., Mathow, D., Jennemann, R., Kremser, C., Porubsky, S., Bolenz, C., Willecke, K., Grone, H.-J., Hopf, C., Sandhoff, R.

Journal:

The Journal of Lipid Research

Year:

2014

Language:

english

File:

PDF, 4.89 MB

english, 2014

46

A decade of structural variants: description, history and methods to detect structural variation

Escaramis, G., Docampo, E., Rabionet, R.

Journal:

Briefings in Functional Genomics

Year:

2015

Language:

english

File:

PDF, 455 KB

english, 2015

47

Ablation of Neuronal Ceramide Synthase 1 in Mice Decreases Ganglioside Levels and Expression of Myelin-associated Glycoprotein in Oligodendrocytes

Ginkel, C., Hartmann, D., vom Dorp, K., Zlomuzica, A., Farwanah, H., Eckhardt, M., Sandhoff, R., Degen, J., Rabionet, M., Dere, E., Dormann, P., Sandhoff, K., Willecke, K.

Journal:

Journal of Biological Chemistry

Year:

2012

Language:

english

File:

PDF, 2.19 MB

english, 2012

48

The emerging role of structural variations in common disorders: initial findings and discovery challenges

Armengol, L., Rabionet, R., Estivill, X.

Journal:

Cytogenetic and Genome Research

Year:

2008

Language:

english

File:

PDF, 291 KB

english, 2008

49

Loss of ceramide synthase 3 causes lethal skin barrier disruption

Jennemann, R., Rabionet, M., Gorgas, K., Epstein, S., Dalpke, A., Rothermel, U., Bayerle, A., van der Hoeven, F., Imgrund, S., Kirsch, J., Nickel, W., Willecke, K., Riezman, H., Grone, H.-J., Sandhoff

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 4.79 MB

english, 2012

50

Male meiotic cytokinesis requires ceramide synthase 3-dependent sphingolipids with unique membrane anchors

Rabionet, Mariona, Bayerle, Aline, Jennemann, Richard, Heid, Hans, Fuchser, Jens, Marsching, Christian, Porubsky, Stefan, Bolenz, Christian, Guillou, Florian, Gröne, Hermann-Josef, Gorgas, Karin, Sand

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 2.81 MB

english, 2015