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Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches

Clinical genetics, 2014-12, Vol.86 (6), p.595-597

2014

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Disruption of NIPBL/Scc2 in Cornelia de Lange Syndrome provokes cohesin genome-wide redistribution with an impact in the transcriptome

Nature communications, 2021-07, Vol.12 (1), p.4551-4551, Article 4551

2021

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Could a patient with SMC1A duplication be classified as a human cohesinopathy?

Clinical genetics, 2014-05, Vol.85 (5), p.446-451

2014

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Regulation of plasma membrane Ca(2+)-ATPase activity by acetylated tubulin: influence of the lipid environment

Biochimica et biophysica acta, 2012-03, Vol.1818 (3), p.601

2012

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Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction

Clinical genetics, 2016-05, Vol.89 (5), p.564-573

2016

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Refining the diagnosis of mitochondrial HMG‐CoA synthase deficiency

Journal of inherited metabolic disease, 2006-02, Vol.29 (1), p.207-211

2006

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Role of pinoline and melatonin in stabilizing hepatic microsomal membranes against oxidative stress

Journal of bioenergetics and biomembranes, 1999-12, Vol.31 (6), p.609-616

1999

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High rate of autonomic neuropathy in Cornelia de Lange Syndrome

Orphanet journal of rare diseases, 2021-10, Vol.16 (1), p.1-458, Article 458

2021

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Genetic basis of mitochondrial HMG-CoA synthase deficiency

Human genetics, 2001-07, Vol.109 (1), p.19-23

2001

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A single‐residue mutation, G203E, causes 3‐hydroxy‐3‐methylglutaric aciduria by occluding the substrate channel in the 3D structural model of HMG‐CoA lyase

Journal of inherited metabolic disease, 2006-02, Vol.29 (1), p.64-70

2006

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5-methoxytryptophol preserves hepatic microsomal membrane fluidity during oxidative stress

Journal of cellular biochemistry, 2000-01, Vol.76 (4), p.651-657

2000

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Regulation of plasma membrane Ca2+-ATPase activity by acetylated tubulin: Influence of the lipid environment

Biochimica et biophysica acta. Biomembranes, 2012-03, Vol.1818 (3), p.601-608

2012

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Comparative study of upper lip frenectomy with the CO2 laser versus the Er, Cr:YSGG laser

Medicina oral, patología oral y cirugía bucal, 2012-03, Vol.17 (2), p.e228-e232

2012

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MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome

Cell reports (Cambridge), 2020-05, Vol.31 (7), p.107647-107647, Article 107647

2020

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The pharmacokinetic characteristics of glycolated humanized anti-tac Fabs are determined by their isoelectric points

Cancer research (Chicago, Ill.), 1999-01, Vol.59 (2), p.422-430

1999

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De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes

Human mutation, 2015-04, Vol.36 (4), p.454-462

2015

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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

International journal of molecular sciences, 2017-02, Vol.18 (3), p.481-481

2017

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Reduced immunoglobulin gene diversity in patients with Cornelia de Lange syndrome

Journal of allergy and clinical immunology, 2018-01, Vol.141 (1), p.408-411.e8

2018

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Preperitoneal repair for recurrent inguinal hernia: laparoscopic and open approach

Hernia : the journal of hernias and abdominal wall surgery, 2004-05, Vol.8 (2), p.113-116

2004

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A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination

The Journal of experimental medicine, 2013-11, Vol.210 (12), p.2503-2513

2013

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Bone marrow endothelial dysfunction promotes myeloid cell expansion in cardiovascular disease

Nature Cardiovascular Research, 2022-01, Vol.1 (1), p.28-44

2022

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Novel gene and pathomechanism in Cornelia de Lange syndrome

European journal of human genetics : EJHG, 2019, Vol.27, p.830-831

2019

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Apoptosis of PC12 cells by 4-hydroxy-2-nonenal is mediated through selective activation of the c-Jun N-Terminal protein kinase pathway

Chemico-biological interactions, 2001-01, Vol.130 (1-3), p.943-954

2001

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A two-base deletion in exon 6 of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene producing the skipping of exons 5 and 6 determines 3-hydroxy-3-methylglutaric aciduria

Journal of lipid research, 1997-11, Vol.38 (11), p.2303-2313

1997

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Aberrantly spliced mRNAs of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene with a donor splice-site point mutation produce hereditary HL deficiency

Journal of lipid research, 1996-11, Vol.37 (11), p.2420-2432

1996

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Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches

Disruption of NIPBL/Scc2 in Cornelia de Lange Syndrome provokes cohesin genome-wide redistribution with an impact in the transcriptome

Could a patient with SMC1A duplication be classified as a human cohesinopathy?

Regulation of plasma membrane Ca(2+)-ATPase activity by acetylated tubulin: influence of the lipid environment

Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction

Refining the diagnosis of mitochondrial HMG‐CoA synthase deficiency

Role of pinoline and melatonin in stabilizing hepatic microsomal membranes against oxidative stress

High rate of autonomic neuropathy in Cornelia de Lange Syndrome

Genetic basis of mitochondrial HMG-CoA synthase deficiency

A single‐residue mutation, G203E, causes 3‐hydroxy‐3‐methylglutaric aciduria by occluding the substrate channel in the 3D structural model of HMG‐CoA lyase

5-methoxytryptophol preserves hepatic microsomal membrane fluidity during oxidative stress

Regulation of plasma membrane Ca2+-ATPase activity by acetylated tubulin: Influence of the lipid environment

Comparative study of upper lip frenectomy with the CO2 laser versus the Er, Cr:YSGG laser

MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome

The pharmacokinetic characteristics of glycolated humanized anti-tac Fabs are determined by their isoelectric points

De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes

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

Reduced immunoglobulin gene diversity in patients with Cornelia de Lange syndrome

Preperitoneal repair for recurrent inguinal hernia: laparoscopic and open approach

A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination

Bone marrow endothelial dysfunction promotes myeloid cell expansion in cardiovascular disease

Novel gene and pathomechanism in Cornelia de Lange syndrome

Apoptosis of PC12 cells by 4-hydroxy-2-nonenal is mediated through selective activation of the c-Jun N-Terminal protein kinase pathway

A two-base deletion in exon 6 of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene producing the skipping of exons 5 and 6 determines 3-hydroxy-3-methylglutaric aciduria

Aberrantly spliced mRNAs of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene with a donor splice-site point mutation produce hereditary HL deficiency

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