Lista de obras - Jean-Pierre Fryns - Dominio Público Uruguay

A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C.

artículo científico publicado en 2010

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

artículo científico publicado en 2006

ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation

artículo científico publicado en 2002

Adult monozygotic twins discordant for intra-uterine growth have indistinguishable genome-wide DNA methylation profiles ⬇️

artículo científico publicado el 26 de mayo de 2013

Autosomal-dominant microtia linked to five tandem copies of a copy-number-variable region at chromosome 4p16

artículo científico publicado en 2008

Carrier testing in minors: a systematic review of guidelines and position papers

artículo científico publicado en 2006

Chromosomal anomalies in individuals with autism: a strategy towards the identification of genes involved in autism.

artículo científico publicado en 2004

Cobalamin disorder Cbl-C presenting with late-onset thrombotic microangiopathy

artículo científico publicado en 2002

Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport ⬇️

artículo científico publicado el 2 de mayo de 2003

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

Current consequences of prenatal diagnosis of congenital diaphragmatic hernia.

artículo científico publicado en 2006

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

artículo científico publicado en 2012

Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH

artículo científico publicado en 2003

Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis

artículo científico publicado en 2005

Delineation of Cohen syndrome following a large-scale genotype-phenotype screen

artículo científico publicado en 2004

Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation

artículo científico publicado en 2006

Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure

artículo científico publicado en 2009

Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination.

scientific article published on December 2009

Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males

artículo científico publicado en 2005

FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation

artículo científico publicado en 2002

FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation

artículo científico publicado en 2003

Follow-up of adult males with chromosome 18p deletion

artículo científico publicado en 2005

Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype

artículo científico publicado en 2007

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

artículo científico publicado en 2012

High prevalence of SLC6A8 deficiency in X-linked mental retardation

artículo científico publicado en 2004

Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).

artículo científico publicado en 2007

Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome

artículo científico publicado en 2006

Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus)

artículo científico publicado en 2006

MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression

artículo científico publicado en 2008

MLL2 mutation spectrum in 45 patients with Kabuki syndrome

artículo científico publicado en 2010

Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.

artículo científico publicado en 2011

Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism

artículo científico publicado en 2012

Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo-telomere formation

artículo científico publicado en 2006

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.

artículo científico publicado en 2007

Mutations in NOTCH2 in families with Hajdu-Cheney syndrome

artículo científico publicado en 2011

Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation

artículo científico publicado en 2004

Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation

artículo científico publicado en 2004

Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation

artículo científico publicado en 2003

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

artículo científico publicado en 2002

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

artículo científico publicado en 2003

Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia

artículo científico publicado en 2003

Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair.

artículo científico publicado en 2008

Nonsyndromic X-linked mental retardation: where are the missing mutations?

artículo científico publicado en 2003

Novel JARID1C/SMCX mutations in patients with X-linked mental retardation

artículo científico publicado en 2006

Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD.

artículo científico publicado en 2011

Observations on intelligence and behavior in 15 patients with Legius syndrome

artículo científico publicado en 2011

Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies

artículo científico publicado en 2011

Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder

article

Pfeiffer syndrome

artículo científico publicado en 2006

Phenotypic and molecular characterisation of the Aarskog–Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients ⬇️

artículo científico publicado el 1 de enero de 2004

Piecing together the problems in diagnosing low-level chromosomal mosaicism

artículo científico publicado en 2010

Psychiatric genetics: the case of single gene disorders.

artículo científico publicado en 2002

Re-evaluation of MRX36 family after discovery of an ARX gene mutation reveals mild neurological features of Partington syndrome

artículo científico publicado en 2002

Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients

artículo científico publicado en 2007

Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation

artículo científico publicado en 2008

Targeted array comparative genomic hybridisation (array CGH) identifies genomic imbalances associated with isolated congenital diaphragmatic hernia (CDH)

artículo científico publicado en 2010

The C20orf133 gene is disrupted in a patient with Kabuki syndrome

scientific journal article

The C20orf133 gene is disrupted in a patient with Kabuki syndrome

artículo científico publicado en 2009

The East Flanders Prospective Twin Survey (EFPTS).

artículo científico publicado en 2002

The genetic basis of the Pierre Robin Sequence

artículo científico publicado en 2006

The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability ⬇️

artículo científico publicado el 20 de junio de 2013

The spectrum of hand and foot malformations in patients with Greig cephalopolysyndactyly

scientific article published on 10 May 2007

Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency

artículo científico publicado en 2002

Unusual splice-site mutations in the RSK2 gene and suggestion of genetic heterogeneity in Coffin-Lowry syndrome

artículo científico publicado en 2002

What next for preimplantation genetic screening? High mitotic chromosome instability rate provides the biological basis for the low success rate

scientific article published on 24 July 2009

What's new in karyotyping? The move towards array comparative genomic hybridisation (CGH).

artículo científico publicado en 2007

X-chromosome polysomy in the male

artículo científico publicado en 1988

X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family

artículo científico publicado en 2004

X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22.1-p21.3 in a Belgian family

artículo científico publicado en 2005

ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation

artículo científico publicado en 2005

Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia

artículo científico publicado en 2003

Lista de obras de Jean-Pierre Fryns

A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C.

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation

Adult monozygotic twins discordant for intra-uterine growth have indistinguishable genome-wide DNA methylation profiles ⬇️

Autosomal-dominant microtia linked to five tandem copies of a copy-number-variable region at chromosome 4p16

Carrier testing in minors: a systematic review of guidelines and position papers

Chromosomal anomalies in individuals with autism: a strategy towards the identification of genes involved in autism.

Cobalamin disorder Cbl-C presenting with late-onset thrombotic microangiopathy

Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport ⬇️

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

Current consequences of prenatal diagnosis of congenital diaphragmatic hernia.

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH

Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis

Delineation of Cohen syndrome following a large-scale genotype-phenotype screen

Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation

Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure

Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination.

Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males

FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation

FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation

Follow-up of adult males with chromosome 18p deletion

Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

High prevalence of SLC6A8 deficiency in X-linked mental retardation

Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).

Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome

Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus)

MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression

MLL2 mutation spectrum in 45 patients with Kabuki syndrome

Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.

Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism

Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo-telomere formation

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.

Mutations in NOTCH2 in families with Hajdu-Cheney syndrome

Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation

Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation

Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia

Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair.

Nonsyndromic X-linked mental retardation: where are the missing mutations?

Novel JARID1C/SMCX mutations in patients with X-linked mental retardation

Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD.

Observations on intelligence and behavior in 15 patients with Legius syndrome

Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies

Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder

Pfeiffer syndrome

Phenotypic and molecular characterisation of the Aarskog–Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients ⬇️

Piecing together the problems in diagnosing low-level chromosomal mosaicism

Psychiatric genetics: the case of single gene disorders.

Re-evaluation of MRX36 family after discovery of an ARX gene mutation reveals mild neurological features of Partington syndrome

Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients

Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation

Targeted array comparative genomic hybridisation (array CGH) identifies genomic imbalances associated with isolated congenital diaphragmatic hernia (CDH)

The C20orf133 gene is disrupted in a patient with Kabuki syndrome

The C20orf133 gene is disrupted in a patient with Kabuki syndrome

The East Flanders Prospective Twin Survey (EFPTS).

The genetic basis of the Pierre Robin Sequence

The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability ⬇️

The spectrum of hand and foot malformations in patients with Greig cephalopolysyndactyly

Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency

Unusual splice-site mutations in the RSK2 gene and suggestion of genetic heterogeneity in Coffin-Lowry syndrome

What next for preimplantation genetic screening? High mitotic chromosome instability rate provides the biological basis for the low success rate

What's new in karyotyping? The move towards array comparative genomic hybridisation (CGH).

X-chromosome polysomy in the male

X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family

X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22.1-p21.3 in a Belgian family

ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation

Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia