Lista de obras - Willy Lissens - Dominio Público Uruguay

A case of thyroid hormone resistance: Prospective follow-up during pregnancy and obstetric outcome

artículo científico publicado en 2007

A family with pyruvate dehydrogenase complex deficiency due to a novel C>T substitution at nucleotide position 407 in exon 4 of the X-linked Epsilon1alpha gene

artículo científico publicado en 2004

A new family with the mitochondrial tRNAGLU gene mutation m.14709T>C presenting with hydrops fetalis.

artículo científico publicado en 2006

A novel mutation in the SCN4A responsible for cold-induced myotonia with normal electromyography findings on room temperature

scientific article published on 14 July 2011

Alterations of the USP26 gene in Caucasian men

article

Aminoacylase I deficiency: a novel inborn error of metabolism.

artículo científico publicado en 2005

Array comparative genomic hybridization in male infertility

artículo científico publicado en 2012

Association of parathyroid adenoma and familial hypocalciuric hypercalcaemia in a teenager

artículo científico publicado en 2009

Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene

artículo científico publicado en 1995

Cancer predisposing missense and protein truncating BARD1 mutations in non-BRCA1 or BRCA2 breast cancer families

artículo científico publicado en 2010

Characterisation of a cDNA for porcine PDH-E1 alpha and comparison with the human cDNA.

artículo científico publicado en 1990

Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene

article

Clinical variability in neurohepatic syndrome due to combined mitochondrial DNA depletion and Gaucher disease

artículo científico publicado en 2014

DNA methylation analysis in immature testicular sperm cells at different developmental stages

artículo científico publicado en 2001

Discordance for retinitis pigmentosa in two monozygotic twin pairs

artículo científico publicado en 2011

Early onset Huntington disease: a neuronal degeneration syndrome

artículo científico publicado en 2004

Efficiency and accuracy of polymerase-chain-reaction assay for cystic fibrosis allele delta F508 in single cell

artículo científico publicado en 1992

Fluorescence imaging of mitochondria in cultured skin fibroblasts: a useful method for the detection of oxidative phosphorylation defects.

artículo científico publicado en 2012

Gas chromatographic-mass spectrometric analysis of N-acetylated amino acids: the first case of aminoacylase I deficiency

scientific article published on 05 May 2006

Genetic causes of spermatogenic failure.

artículo científico publicado en 2011

Genetically heterogeneous selective intestinal malabsorption of vitamin B12: founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle East

artículo científico publicado en 2004

Identification of Eight Novel Mutations in a Collaborative Analysis of a Part of the Second Transmembrane Domain of the CFTR Gene

article

Identification of two de novo mutations responsible for type I antithrombin deficiency

scientific article published on 24 November 2011

Identification of two novel mutations in the cystic fibrosis gene: 1898 + 3A→C and 2711delT ⬇️

artículo científico publicado el 1 de enero de 1995

Immunohistochemical analysis of the oxidative phosphorylation complexes in skeletal muscle from patients with mitochondrial DNA encoded tRNA gene defects

artículo científico publicado en 2009

Inborn oxidative phosphorylation defect as risk factor for propofol infusion syndrome.

artículo científico publicado en 2012

Is beta-glucuronidase a clinical useful biomarker for an acute organophosphorus poisoning?

artículo científico publicado en 2008

Is there a role for the nuclear export factor 2 gene in male infertility?

artículo científico publicado en 2008

Krabbe leukodystrophy in a selected population with high rate of late onset forms: longer survival linked to c.121G>A (p.Gly41Ser) mutation

artículo científico publicado en 2010

Localization by fluorescence in situ hybridization of the human functional beta-glucuronidase gene (GUSB) to 7q11.21 --> q11.22 and two pseudogenes to 5p13 and 5q13.

artículo científico publicado en 1996

Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia

artículo científico publicado en 2003

Low β-glucuronidase enzyme activity and mutations in the human β-glucuronidase gene in mild mucopolysaccharidosis type VII, pseudodeficiency and a heterozygote ⬇️

artículo científico publicado el 1 de enero de 1998

Mild cystic fibrosis in child homozygous for G542 non-sense mutation in CF gene ⬇️

artículo científico publicado el 20 de julio de 1991

Mild pulmonary, but severe hepatic disease in a cystic fibrosis patient homozygous for a frameshift mutation in the regulatory domain of the CFTR ⬇️

artículo científico publicado el 1 de mayo de 1993

Molecular analysis in 23 Hunter disease families ⬇️

artículo científico publicado el 1 de julio de 1997

Molecular analysis in two siblings African patients with severe form of Hunter Syndrome: identification of a novel (p.Y54X) nonsense mutation

artículo científico publicado en 2007

Mutation analysis of three genes in patients with maturation arrest of spermatogenesis and couples with recurrent miscarriages

artículo científico publicado en 2010

Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency

artículo científico publicado en 2009

Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens

artículo científico publicado en 1995

Nonsense mutation Arg197stop in a Dutch family with type 1 hereditary antithrombin (AT) deficiency causing thrombophilia

artículo científico publicado en 1995

Novel mutation in the human hairless gene once more erroneously diagnosed and treated as 'alopecia areata'

artículo científico publicado en 2008

PGD in the lab for triplet repeat diseases - myotonic dystrophy, Huntington's disease and Fragile-X syndrome.

artículo científico publicado en 2001

Possible role of USP26 in patients with severely impaired spermatogenesis

artículo científico publicado en 2005

Preimplantation genetic diagnosis for cancer predisposition syndromes

artículo científico publicado en 2007

Preimplantation genetic diagnosis for spinal and bulbar muscular atrophy (SBMA)

artículo científico publicado en 2001

Preimplantation genetic diagnosis: current status and new developments ⬇️

artículo científico publicado el 1 de agosto de 1997

Proteomic analysis in giant axonal neuropathy: new insights into disease mechanisms

artículo científico publicado en 2012

Pyruvate dehydrogenase E1α deficiency in a family: Different clinical presentation in two siblings ⬇️

artículo científico publicado el 1 de junio de 1998

Pyruvate dehydrogenase complex deficiency and absence of subunit X ⬇️

artículo científico publicado el 1 de febrero de 1998

Reliable and sensitive detection of fragile X (expanded) alleles in clinical prenatal DNA samples with a fast turnaround time

artículo científico publicado en 2012

Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12

artículo científico publicado en 2004

Sanfilippo syndrome type D: natural history and identification of 3 novel mutations in the GNS Gene

artículo científico publicado en 2007

Subcomplexes of mitochondrial complex V reveal mutations in mitochondrial DNA.

artículo científico publicado en 2009

The genetics of male infertility in relation to cystic fibrosis

artículo científico publicado en 1997

What about gr/gr deletions and male infertility? Systematic review and meta-analysis

artículo científico publicado en 2011

X chromosomal mutations and spermatogenic failure.

artículo científico

carP, a novel gene regulating the transcription of the carbamoylphosphate synthetase operon of Escherichia coli

artículo científico publicado en 1988

β-Glucuronidase activity in mouse oocytes, mouse preimplantation embryos, and human gametes ⬇️

artículo científico publicado el 1 de agosto de 1991

β-Glucuronidase deficiency as a cause of prenatally diagnosed non-immune hydrops fetalis ⬇️

artículo científico publicado el 1 de junio de 1991

Lista de obras de Willy Lissens

A case of thyroid hormone resistance: Prospective follow-up during pregnancy and obstetric outcome

A family with pyruvate dehydrogenase complex deficiency due to a novel C>T substitution at nucleotide position 407 in exon 4 of the X-linked Epsilon1alpha gene

A new family with the mitochondrial tRNAGLU gene mutation m.14709T>C presenting with hydrops fetalis.

A novel mutation in the SCN4A responsible for cold-induced myotonia with normal electromyography findings on room temperature

Alterations of the USP26 gene in Caucasian men

Aminoacylase I deficiency: a novel inborn error of metabolism.

Array comparative genomic hybridization in male infertility

Association of parathyroid adenoma and familial hypocalciuric hypercalcaemia in a teenager

Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene

Cancer predisposing missense and protein truncating BARD1 mutations in non-BRCA1 or BRCA2 breast cancer families

Characterisation of a cDNA for porcine PDH-E1 alpha and comparison with the human cDNA.

Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene

Clinical variability in neurohepatic syndrome due to combined mitochondrial DNA depletion and Gaucher disease

DNA methylation analysis in immature testicular sperm cells at different developmental stages

Discordance for retinitis pigmentosa in two monozygotic twin pairs

Early onset Huntington disease: a neuronal degeneration syndrome

Efficiency and accuracy of polymerase-chain-reaction assay for cystic fibrosis allele delta F508 in single cell

Fluorescence imaging of mitochondria in cultured skin fibroblasts: a useful method for the detection of oxidative phosphorylation defects.

Gas chromatographic-mass spectrometric analysis of N-acetylated amino acids: the first case of aminoacylase I deficiency

Genetic causes of spermatogenic failure.

Genetically heterogeneous selective intestinal malabsorption of vitamin B12: founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle East

Identification of Eight Novel Mutations in a Collaborative Analysis of a Part of the Second Transmembrane Domain of the CFTR Gene

Identification of two de novo mutations responsible for type I antithrombin deficiency

Identification of two novel mutations in the cystic fibrosis gene: 1898 + 3A→C and 2711delT ⬇️

Immunohistochemical analysis of the oxidative phosphorylation complexes in skeletal muscle from patients with mitochondrial DNA encoded tRNA gene defects

Inborn oxidative phosphorylation defect as risk factor for propofol infusion syndrome.

Is beta-glucuronidase a clinical useful biomarker for an acute organophosphorus poisoning?

Is there a role for the nuclear export factor 2 gene in male infertility?

Krabbe leukodystrophy in a selected population with high rate of late onset forms: longer survival linked to c.121G>A (p.Gly41Ser) mutation

Localization by fluorescence in situ hybridization of the human functional beta-glucuronidase gene (GUSB) to 7q11.21 --> q11.22 and two pseudogenes to 5p13 and 5q13.

Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia

Low β-glucuronidase enzyme activity and mutations in the human β-glucuronidase gene in mild mucopolysaccharidosis type VII, pseudodeficiency and a heterozygote ⬇️

Mild cystic fibrosis in child homozygous for G542 non-sense mutation in CF gene ⬇️

Mild pulmonary, but severe hepatic disease in a cystic fibrosis patient homozygous for a frameshift mutation in the regulatory domain of the CFTR ⬇️

Molecular analysis in 23 Hunter disease families ⬇️

Molecular analysis in two siblings African patients with severe form of Hunter Syndrome: identification of a novel (p.Y54X) nonsense mutation

Mutation analysis of three genes in patients with maturation arrest of spermatogenesis and couples with recurrent miscarriages

Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency

Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens

Nonsense mutation Arg197stop in a Dutch family with type 1 hereditary antithrombin (AT) deficiency causing thrombophilia

Novel mutation in the human hairless gene once more erroneously diagnosed and treated as 'alopecia areata'

PGD in the lab for triplet repeat diseases - myotonic dystrophy, Huntington's disease and Fragile-X syndrome.

Possible role of USP26 in patients with severely impaired spermatogenesis

Preimplantation genetic diagnosis for cancer predisposition syndromes

Preimplantation genetic diagnosis for spinal and bulbar muscular atrophy (SBMA)

Preimplantation genetic diagnosis: current status and new developments ⬇️

Proteomic analysis in giant axonal neuropathy: new insights into disease mechanisms

Pyruvate dehydrogenase E1α deficiency in a family: Different clinical presentation in two siblings ⬇️

Pyruvate dehydrogenase complex deficiency and absence of subunit X ⬇️

Reliable and sensitive detection of fragile X (expanded) alleles in clinical prenatal DNA samples with a fast turnaround time

Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12

Sanfilippo syndrome type D: natural history and identification of 3 novel mutations in the GNS Gene

Subcomplexes of mitochondrial complex V reveal mutations in mitochondrial DNA.

The genetics of male infertility in relation to cystic fibrosis

What about gr/gr deletions and male infertility? Systematic review and meta-analysis

X chromosomal mutations and spermatogenic failure.

carP, a novel gene regulating the transcription of the carbamoylphosphate synthetase operon of Escherichia coli

β-Glucuronidase activity in mouse oocytes, mouse preimplantation embryos, and human gametes ⬇️

β-Glucuronidase deficiency as a cause of prenatally diagnosed non-immune hydrops fetalis ⬇️