Publications by authors named "Mar Xuncla"

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Case Report: Androgenetic/biparental chimera with two biparental cell lines leading to placental mesenchymal dysplasia: a possible novel mechanism of formation.
Mar Xunclà, María Ángeles Sánchez-Durán, Natàlia Rey, María Serrano, Pedro Antonio Martínez

Hum Reprod· May 2025

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Incidental Findings Identified by Prenatal Microarray Analysis and Consensus Reporting Criteria of the Catalan Public Health Network XIGENICS.
Irene Mademont-Soler, Neus Castells-Sarret, Adela Cisneros, Laura Foj, Clara Benavent-Bofill

Prenat Diagn· March 2025

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A novel FAM83G variant from palmoplantar keratoderma patient disrupts WNT signalling via loss of FAM83G-CK1α interaction.
Lorraine Glennie, Marta Codina Solà, Mar Xunclà, Gloria Aparicio Español, Elena Garcia-Arumí

Open Biol· July 2024

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Performance of Massive Parallel Sequencing-Based Cell-Free DNA Testing in Compromised Pregnancies.
Maria Antolin, Guillermo Tarrasó, María Ángeles Sánchez, Alberto Plaja, Desiree Martínez-Cruz

J Clin Med· July 2024

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15q11.2 microdeletion and FMR1 premutation in a family with intellectual disabilities and autism.
Irene Madrigal, Laia Rodríguez-Revenga, Mar Xunclà, Montserrat Milà

Gene· October 2012

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Intermediate FMR1 alleles and cognitive and/or behavioural phenotypes.
Irene Madrigal, Mar Xunclà, Maria Isabel Tejada, Francisco Martínez, Isabel Fernández-Carvajal

Eur J Hum Genet· August 2011

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Protocol proposal for Friedreich ataxia molecular diagnosis using fluorescent and triplet repeat primed polymerase chain reaction.
Mar Xunclà, Laia Rodríguez-Revenga, Irene Madrigal, Dolores Jiménez, Montserrat Milà

Transl Res· November 2010

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[A study of subtelomeric rearrangements in 300 patients with mental retardation and multiple congenital anomalies: their clinical and molecular characterisation].
Irene Madrigal, Laia Rodríguez-Revenga, Lourdes Costa, Mar Xunclà, Aurora Sánchez

Rev Neurol· October 2010

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Premature ovarian failure and fragile X female premutation carriers: no evidence for a skewed X-chromosome inactivation pattern.
Laia Rodriguez-Revenga, Irene Madrigal, Celia Badenas, Mar Xunclà, Loli Jiménez

Menopause· December 2009

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Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families.
Laia Rodriguez-Revenga, Irene Madrigal, Javier Pagonabarraga, Mar Xunclà, Celia Badenas

Eur J Hum Genet· October 2009

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Cytogenetic damage induced by radiotherapy. Evaluation of protection by amifostine and analysis of chromosome aberrations persistence.
Mar Xunclà, Joan Francesc Barquinero, María Rosa Caballín, Jordi Craven-Bartle, Montserrat Ribas

Int J Radiat Biol· March 2008

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