Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families
RODRIGUEZ-REVENGA, Laia, MADRIGAL, Irene, PAGONABARRAGA, Javier, XUNCLA, Mar, BADENAS, Celia, KULISEVSKY, Jaime, GOMEZ, Beatriz, MILA, Montserrat
Published in European journal of human genetics : EJHG (01.10.2009)
Published in European journal of human genetics : EJHG (01.10.2009)
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A novel FAM83G variant from palmoplantar keratoderma patient disrupts WNT signalling via loss of FAM83G-CK1α interaction
Glennie, Lorraine, Solà, Marta Codina, Xunclà, Mar, Español, Gloria Aparicio, Garcia-Arumí, Elena, Tizzano, Eduardo Fidel, Wood, Nicola T, Macartney, Thomas J, Lasa-Aranzasti, Amaia, Sapkota, Gopal P
Published in Open biology (01.07.2024)
Published in Open biology (01.07.2024)
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Performance of Massive Parallel Sequencing-Based Cell-Free DNA Testing in Compromised Pregnancies
Antolin, Maria, Tarrasó, Guillermo, Sánchez, María Ángeles, Plaja, Alberto, Martínez-Cruz, Desiree, Xunclà, Mar, Castells, Neus, Carreras, Elena, Tizzano, Eduardo F, García-Arumí, Elena
Published in Journal of clinical medicine (09.07.2024)
Published in Journal of clinical medicine (09.07.2024)
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15q11.2 microdeletion and FMR1 premutation in a family with intellectual disabilities and autism
Madrigal, Irene, Rodríguez-Revenga, Laia, Xunclà, Mar, Milà, Montserrat
Published in Gene (15.10.2012)
Published in Gene (15.10.2012)
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Premature ovarian failure and fragile X female premutation carriers: no evidence for a skewed X-chromosome inactivation pattern
Rodriguez-Revenga, Laia, Madrigal, Irene, Badenas, Celia, Xunclà, Mar, Jiménez, Loli, Milà, Montserrat
Published in Menopause (New York, N.Y.) (01.09.2009)
Published in Menopause (New York, N.Y.) (01.09.2009)
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Intermediate FMR1 alleles and cognitive and or behavioural phenotypes
MADRIGAL, Irene, XUNCLA, Mar, TEJADA, Maria Isabel, MARTINEZ, Francisco, FERNANDEZ-CARVAJAL, Isabel, PEREZ-JURADO, Luis Alberto, RODRIGUEZ-REVENGA, Laia, MILA, Montserrat
Published in European journal of human genetics : EJHG (01.08.2011)
Published in European journal of human genetics : EJHG (01.08.2011)
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Protocol proposal for Friedreich ataxia molecular diagnosis using fluorescent and triplet repeat primed polymerase chain reaction
Xunclà, Mar, Rodríguez-Revenga, Laia, Madrigal, Irene, Jiménez, Dolores, Milà, Montserrat, Badenas, Cèlia
Published in Translational research : the journal of laboratory and clinical medicine (01.11.2010)
Published in Translational research : the journal of laboratory and clinical medicine (01.11.2010)
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Cytogenetic damage induced by radiotherapy. Evaluation of protection by amifostine and analysis of chromosome aberrations persistence
Xunclà, Mar, Barquinero, Joan Francesc, Caballín, María Rosa, Craven-Bartle, Jordi, Ribas, Montserrat, de Vega, José Manuel, Barrios, Leonardo
Published in International journal of radiation biology (2008)
Published in International journal of radiation biology (2008)
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A study of subtelomeric rearrangements in 300 patients with mental retardation and multiple congenital anomalies: their clinical and molecular characterisation
Madrigal, Irene, Rodríguez-Revenga, Laia, Costa, Lourdes, Xunclà, Mar, Sánchez, Aurora, Milà, Montserrat
Published in Revista de neurologiá (16.10.2010)
Published in Revista de neurologiá (16.10.2010)
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Estudio de reordenamientos subteloméricos en 300 pacientes con retraso mental y anomalías congénitas múltiples: caracterización clínica y molecular
Madrigal Bajo, Irene, Rodríguez Revenga Bodi, Laia, Costa Boix, Lourdes, Xunclà Lloret, Mar, Sánchez Díaz, Aurora, Milà Recasens, Montserrat
Published in Revista de neurologiá (16.10.2010)
Published in Revista de neurologiá (16.10.2010)
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