Publications by authors named "Maria P Botella"

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Functional Analyses of a Novel Splice Variant in the Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him with CHARGE Syndrome.
Olatz Villate, Nekane Ibarluzea, Eugenia Fraile-Bethencourt, Alberto Valenzuela, Eladio A Velasco, María P Botella

Front Genet· January 2018

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Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders.
Marta Codina-Solà, Benjamín Rodríguez-Santiago, Aïda Homs, Javier Santoyo, Maria Rigau, María Pilar Botella

Mol Autism· May 2015

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Infectious and immunologic phenotype of MECP2 duplication syndrome.
Michael Bauer, Uwe Kölsch, Renate Krüger, Nadine Unterwalder, Karin Hameister, Maria Pilar Botella

J Clin Immunol· February 2015

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Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.
Gillian I Rice, Gabriella M A Forte, Marcin Szynkiewicz, Diana S Chase, Alec Aeby, Maria P Botella

Lancet Neurol· December 2013

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Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome.
Gillian I Rice, Martin A M Reijns, Stephanie R Coffin, Gabriella M A Forte, Beverley H Anderson, Maria P Botella

Hum Mutat· August 2013

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Microcephaly-lymphoedema-chorioretinal dysplasia: three cases to delineate the facial phenotype and review of the literature.
Pradeep C Vasudevan, Sixto Garcia-Minaur, Maria Pilar Botella, Antonio Perez-Aytes, Nora L Shannon

Clin Dysmorphol· July 2005

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