Lista de obras - Michel Vekemans - Dominio Público Uruguay

A 22-year French experience with solid tumors in children with Down syndrome

artículo científico publicado en 2003

A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium

artículo científico publicado en 2014

A low-grade follicular thyroid carcinoma in a woman with Down syndrome.

artículo científico publicado en 2004

A practical approach to the examination of the malformed fetal brain: impact on genetic counselling

artículo científico publicado en 2008

A very rare cancer in Down syndrome: medulloblastoma. Epidemiological data from 13 countries.

artículo científico publicado en 2013

Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome

artículo científico publicado en 2005

Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth

artículo científico publicado en 2009

Aspects of digestive tract tumors in Down syndrome: a literature review

artículo científico publicado en 2006

CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation

artículo científico publicado en 2009

CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome

artículo científico publicado en 2012

Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes

artículo científico publicado en 2006

Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients

artículo científico publicado en 2014

Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia

artículo científico publicado en 2011

Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome

artículo científico publicado en 2010

Expression of the SMADIP1 gene during early human development

artículo científico publicado en 2002

Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome

artículo científico publicado en 2005

Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition

artículo científico publicado en 2009

Functional disomy of the Xq28 chromosome region

artículo científico publicado en 2005

Gene expression in pharyngeal arch 1 during human embryonic development

artículo científico publicado en 2005

Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans

artículo científico publicado en 2011

Germline gain-of-function mutations of ALK disrupt central nervous system development

artículo científico publicado en 2011

High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy

artículo científico publicado en 2010

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

artículo científico publicado en 2009

Human neural crest cells display molecular and phenotypic hallmarks of stem cells

artículo científico publicado en 2008

Human neural tube defects: developmental biology, epidemiology, and genetics

artículo científico publicado en 2005

ISL1 directly regulates FGF10 transcription during human cardiac outflow formation

artículo científico publicado en 2012

Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity

artículo científico publicado en 2014

Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy

artículo científico publicado en 2004

Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome

artículo científico publicado en 2006

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

artículo científico publicado en 2011

Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6

artículo científico publicado en 2007

Molecular characterisation of a prenatally diagnosed 5q15q21.3 deletion and review of the literature

artículo científico publicado en 2006

Molecular karyotyping in human constitutional cytogenetics

artículo científico publicado en 2005

Molecular screening of the ZFHX1B gene in prenatally diagnosed isolated agenesis of the corpus callosum

artículo científico publicado en 2004

Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum

artículo científico publicado en 2009

Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome

artículo científico publicado en 2009

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome

artículo científico publicado en 2015

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

artículo científico publicado en 2010

Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis

artículo científico publicado en 2012

New insights into genotype-phenotype correlation for GLI3 mutations

artículo científico publicado en 2014

Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse)

artículo científico publicado en 2003

Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome

artículo científico publicado en 2012

Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literature

artículo científico publicado en 2002

PAX8, TITF1, and FOXE1 gene expression patterns during human development: new insights into human thyroid development and thyroid dysgenesis-associated malformations

artículo científico publicado en 2005

Paternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties

artículo científico publicado en 2005

Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome

artículo científico publicado en 2007

Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome

artículo científico publicado en 2003

Polyalanine expansions might not result from unequal crossing-over

article by Delphine Trochet et al published 2007 in Human Mutation

Reproductive genetic counselling in non-mosaic 47,XXY patients: implications for preimplantation or prenatal diagnosis: Case report and review

artículo científico publicado en 2003

Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online

artículo científico publicado en 2007

TCTN3 mutations cause Mohr-Majewski syndrome

artículo científico publicado en 2012

The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome

artículo científico publicado en 2007

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

artículo científico publicado en 2007

The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation

artículo científico publicado en 2014

Transcriptome profiling of genes involved in neural tube closure during human embryonic development using long serial analysis of gene expression (long-SAGE).

artículo científico publicado en 2012

Unusual clinical severity of complement membrane cofactor protein-associated hemolytic-uremic syndrome and uniparental isodisomy

artículo científico publicado en 2007

Lista de obras de Michel Vekemans

A 22-year French experience with solid tumors in children with Down syndrome

A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium

A low-grade follicular thyroid carcinoma in a woman with Down syndrome.

A practical approach to the examination of the malformed fetal brain: impact on genetic counselling

A very rare cancer in Down syndrome: medulloblastoma. Epidemiological data from 13 countries.

Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome

Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth

Aspects of digestive tract tumors in Down syndrome: a literature review

CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation

CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome

Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes

Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients

Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia

Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome

Expression of the SMADIP1 gene during early human development

Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome

Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition

Functional disomy of the Xq28 chromosome region

Gene expression in pharyngeal arch 1 during human embryonic development

Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans

Germline gain-of-function mutations of ALK disrupt central nervous system development

High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

Human neural crest cells display molecular and phenotypic hallmarks of stem cells

Human neural tube defects: developmental biology, epidemiology, and genetics

ISL1 directly regulates FGF10 transcription during human cardiac outflow formation

Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity

Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy

Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6

Molecular characterisation of a prenatally diagnosed 5q15q21.3 deletion and review of the literature

Molecular karyotyping in human constitutional cytogenetics

Molecular screening of the ZFHX1B gene in prenatally diagnosed isolated agenesis of the corpus callosum

Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum

Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis

New insights into genotype-phenotype correlation for GLI3 mutations

Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse)

Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome

Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literature

PAX8, TITF1, and FOXE1 gene expression patterns during human development: new insights into human thyroid development and thyroid dysgenesis-associated malformations

Paternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties

Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome

Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome

Polyalanine expansions might not result from unequal crossing-over

Reproductive genetic counselling in non-mosaic 47,XXY patients: implications for preimplantation or prenatal diagnosis: Case report and review

Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online

TCTN3 mutations cause Mohr-Majewski syndrome

The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation

Transcriptome profiling of genes involved in neural tube closure during human embryonic development using long serial analysis of gene expression (long-SAGE).

Unusual clinical severity of complement membrane cofactor protein-associated hemolytic-uremic syndrome and uniparental isodisomy