Juan Pie-Pie Juste

Zaragoza, AR 50009, Spain

Last Updated: 09/26/2026

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Found 12 publications

Postzygotic mosaicism in SMC1A and the first reported case of a female with Cornelia de Lange syndrome.

Postzygotic mosaicism in SMC1A and the first reported case of a female with Cornelia de Lange syndrome.

Journal: Scientific reports

Published: April 02, 2025

Subclinical myocardial dysfunction is revealed by speckle tracking echocardiography in patients with Cornelia de Lange syndrome.

Subclinical myocardial dysfunction is revealed by speckle tracking echocardiography in patients with Cornelia de Lange syndrome.

Journal: The international journal of cardiovascular imaging

Published: December 29, 2021

Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood.

Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood.

Journal: Scientific reports

Published: May 27, 2021

High rate of autonomic neuropathy in Cornelia de Lange Syndrome.

High rate of autonomic neuropathy in Cornelia de Lange Syndrome.

Journal: Orphanet journal of rare diseases

Published: May 17, 2021

Cornelia de Lange syndrome: Ventricular size and function in six children without congenital heart defects.

Cornelia de Lange syndrome: Ventricular size and function in six children without congenital heart defects.

Journal: Medicina clinica

Published: August 08, 2018

Human Mitochondrial HMG-CoA Synthase Deficiency: Role of Enzyme Dimerization Surface and Characterization of Three New Patients.

Human Mitochondrial HMG-CoA Synthase Deficiency: Role of Enzyme Dimerization Surface and Characterization of Three New Patients.

Journal: International journal of molecular sciences

Published: February 27, 2018

Cornelia de Lange syndrome: Congenital heart disease in 149 patients.

Cornelia de Lange syndrome: Congenital heart disease in 149 patients.

Journal: Medicina clinica

Published: February 03, 2017

mRNA Quantification of NIPBL Isoforms A and B in Adult and Fetal Human Tissues, and a Potentially Pathological Variant Affecting Only Isoform A in Two Patients with Cornelia de Lange Syndrome.

mRNA Quantification of NIPBL Isoforms A and B in Adult and Fetal Human Tissues, and a Potentially Pathological Variant Affecting Only Isoform A in Two Patients with Cornelia de Lange Syndrome.

Journal: International journal of molecular sciences

Published: December 31, 2016

Functional characterization of NIPBL physiological splice variants and eight splicing mutations in patients with Cornelia de Lange syndrome.

Functional characterization of NIPBL physiological splice variants and eight splicing mutations in patients with Cornelia de Lange syndrome.

Journal: International journal of molecular sciences

Published: April 09, 2014

Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation.

Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation.

Journal: European journal of medical genetics

Published: September 26, 2013

Characterization of a novel HMG-CoA lyase enzyme with a dual location in endoplasmic reticulum and cytosol.

Characterization of a novel HMG-CoA lyase enzyme with a dual location in endoplasmic reticulum and cytosol.

Journal: Journal of lipid research

Published: August 01, 2012

Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome.

Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome.

Journal: American journal of medical genetics. Part A

Published: April 02, 2010

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Last Updated: 09/26/2026