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List of works by Irene Valenzuela

Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation.

scientific article published on 23 March 2017

Comparison of Prediction Models for Lynch Syndrome Among Individuals With Colorectal Cancer.

scientific article published on 18 November 2015

Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype

scientific article published on 12 January 2021

Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia

scientific article published on 5 April 2013

Expanding the phenotype of cerebellar-facial-dental syndrome: Two siblings with a novel variant in BRF1

scientific article published on 08 September 2020

Further delineation of the SOX18-related Hypotrichosis, Lymphedema, Telangiectasia syndrome (HTLS).

scientific article published on 4 January 2018

Germline mutations in NF1 and BRCA1 in a family with neurofibromatosis type 1 and early-onset breast cancer.

scientific article published on 27 April 2013

Microcephaly with simplified gyral pattern, epilepsy and permanent neonatal diabetes syndrome (MEDS). A new patient and review of the literature.

scientific article

Nonsyndromic familial aortic disease: an underdiagnosed entity.

scientific article

Rare novel variants in the ZIC3 gene cause X-linked heterotaxy

scientific article published on 13 July 2016

Skeletal abnormalities are common features in Aymé-Gripp syndrome

scientific article published on 03 November 2019

Thoracic aortic-aneurysm and dissection in association with significant mitral valve disease caused by mutations in TGFB2.

scientific article

Whole exome sequencing for the identification of a new mutation in TGFB2 involved in a familial case of non-syndromic aortic disease

scientific article published on 19 July 2014

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