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22q11.2 Deletion Syndrome is under-recognised in adult patients with tetralogy of Fallot and pulmonary atresia.

artículo científico publicado en 2010

A case of paternal uniparental disomy for chromosome 11.

artículo científico publicado en 1995

A common region of 10p deleted in DiGeorge and velocardiofacial syndromes

article

A common variant in the PTPN11 gene contributes to the risk of tetralogy of Fallot.

artículo científico publicado en 2012

A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20.

artículo científico publicado en 2016

A large, dominant pedigree of atrioventricular septal defect (AVSD): exclusion from the Down syndrome critical region on chromosome 21.

artículo científico publicado en 1993

A male with type I orofaciodigital syndrome

artículo científico publicado en 1991

A newly recognized, likely autosomal recessive syndrome comprising agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis, and other features.

artículo científico publicado en 2006

A non-synonymous polymorphism (arg240his) in C4b-binding protein is associated with atypical haemolytic uraemic syndrome and leads to impaired alternative pathway cofactor activity

A nonsense mutation in the IKBKG gene in mares with incontinentia pigmenti

artículo científico publicado en 2013

A novel non-synonymous polymorphism (p.Arg240His) in C4b-binding protein is associated with atypical hemolytic uremic syndrome and leads to impaired alternative pathway cofactor activity

artículo científico publicado en 2008

A novel tissue inhibitor of metalloproteinases-3 mutation reveals a common molecular phenotype in Sorsby's fundus dystrophy

scientific article published on 01 September 2000

A perspective on inversin

artículo científico publicado en 2004

A population study of chromosome 22q11 deletions in infancy

artículo científico publicado en 1998

A prospective cytogenetic study of 36 cases of DiGeorge syndrome

artículo científico publicado en 1992

A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome

artículo científico publicado en 2003

A submicroscopic translocation, t(4;10), responsible for recurrent Wolf-Hirschhorn syndrome identified by allele loss and fluorescent in situ hybridisation.

artículo científico publicado en 1992

A wide spectrum of phenotypes in a family with renal coloboma syndrome caused by a PAX2 mutation.

artículo científico publicado en 2013

Absence of mutations in the regulatory domain of the gap junction protein connexin 43 in patients with visceroatrial heterotaxy

artículo científico publicado en 1997

Adult-onset motor neuron disease and infantile Werdnig-Hoffmann disease (spinal muscular atrophy type 1) in the same family

artículo científico publicado en 1992

Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield

article

Association analysis identifies new risk loci for congenital heart disease in Chinese populations

artículo científico publicado en 2015

Association between C677T polymorphism of methylene tetrahydrofolate reductase and congenital heart disease: meta-analysis of 7697 cases and 13,125 controls

scientific article published on 22 July 2013

Atypical haemolytic uraemic syndrome associated with a hybrid complement gene

artículo científico publicado en 2006

Autozygosity mapping of a seckel syndrome locus to chromosome 3q22. 1-q24.

artículo científico publicado en 2000

Bohring–Opitz (Oberklaid–Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis ⬇️

artículo científico publicado el 2 de febrero de 2011

Carrier detection in Wiskott-Aldrich syndrome: combined use of M27 beta for X-inactivation studies and as a linked probe

artículo científico publicado en 1991

Characterization of mutations in complement factor I (CFI) associated with hemolytic uremic syndrome

Characterization of mutations in complement factor I (CFI) associated with hemolytic uremic syndrome

artículo científico publicado en 2007

Chromosomal Imbalances in Patients with Congenital Cardiac Defects: A Meta-analysis Reveals Novel Potential Critical Regions Involved in Heart Development

artículo científico publicado en 2014

Cilia and disease

artículo científico publicado en 2005

Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome

artículo científico publicado en 2000

Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11.

artículo científico publicado en 1993

Connexin43 mutations in sporadic and familial defects of laterality

artículo científico publicado en 1995

Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11

artículo científico publicado en 1993

Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease

artículo científico publicado en 2012

Correction: Table II

article by Qiang Pan-Hammarström et al published 17 January 2006 in Journal of Experimental Medicine

De novo gene conversion in the RCA gene cluster (1q32) causes mutations in complement factor H associated with atypical hemolytic uremic syndrome

artículo científico publicado en 2006

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

article by Alexander Hoischen et al published 26 June 2011 in Nature Genetics

Defects in the determination of left-right asymmetry

artículo científico publicado en 1996

Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome

artículo científico publicado en 2007

Deletions within chromosome 22q11 in familial congenital heart disease

scientific article published in The Lancet

Determining the population frequency of the CFHR3/CFHR1 deletion at 1q32.

artículo científico publicado en 2013

Developmental genetics of the heart

artículo científico publicado en 1996

DiGeorge syndrome with isolated aortic coarctation and isolated ventricular septal defect in three sibs with a 22q11 deletion of maternal origin

artículo científico publicado en 1991

DiGeorge syndrome: part of CATCH 22.

artículo científico publicado en 1993

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

artículo científico publicado en 2015

Disparate roles of ATR and ATM in immunoglobulin class switch recombination and somatic hypermutation

artículo científico publicado en 2006

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

artículo científico publicado en 2016

Does complement factor B have a role in the pathogenesis of atypical HUS?

artículo científico publicado en 2005

Ellis-van Creveld Syndrome with hydrometrocolpos is not linked to chromosome arm 4p or 20p

artículo científico publicado en 2004

Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands

artículo científico publicado en 2009

Ellis-van Creveld syndrome resulting from segmental uniparental disomy of chromosome 4.

artículo científico publicado en 2001

Evc is a positive mediator of Ihh-regulated bone growth that localises at the base of chondrocyte cilia

scientific journal article

Evc regulates a symmetrical response to Shh signaling in molar development.

artículo científico publicado en 2013

Evc works in chondrocytes and osteoblasts to regulate multiple aspects of growth plate development in the appendicular skeleton and cranial base.

artículo científico publicado en 2011

Evc2 is a positive modulator of Hedgehog signalling that interacts with Evc at the cilia membrane and is also found in the nucleus

artículo científico publicado en 2011

Expression analyses and interaction with the anaphase promoting complex protein Apc2 suggest a role for inversin in primary cilia and involvement in the cell cycle

artículo científico publicado en 2002

FISH Mapping of De Novo Apparently Balanced Chromosome Rearrangements Identifies Characteristics Associated with Phenotypic Abnormality

FISH mapping of de novo apparently balanced chromosome rearrangements identifies characteristics associated with phenotypic abnormality

artículo científico publicado en 2008

Factor H mutations in hemolytic uremic syndrome cluster in exons 18-20, a domain important for host cell recognition

artículo científico publicado en 2001

Factor H--US?

artículo científico publicado en 1998

Factors determining penetrance in familial atypical haemolytic uraemic syndrome

artículo científico publicado en 2014

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

artículo científico publicado en 2019

Functionally significant, rare transcription factor variants in tetralogy of Fallot

artículo científico publicado en 2014

Genetic risks for children of women with myotonic dystrophy

artículo científico publicado en 1992

Genetic studies into inherited and sporadic hemolytic uremic syndrome

artículo científico publicado en 1998

Genetic variation in VEGF does not contribute significantly to the risk of congenital cardiovascular malformation

artículo científico publicado en 2009

Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot

scientific journal article

Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16.

artículo científico publicado en 2013

Genotype-phenotype correlations in Cornelia de Lange syndrome: Behavioral characteristics and changes with age.

artículo científico publicado en 2017

Genotype/phenotype correlations in complement factor H deficiency arising from uniparental isodisomy

artículo científico publicado en 2013

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

artículo científico publicado en 2011

Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57

artículo científico publicado en 2008

Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy

artículo científico publicado en 2004

Identification of a novel transcript disrupted by a balanced translocation associated with DiGeorge syndrome

artículo científico publicado en 1996

Increased Power for Detection of Parent-of-Origin Effects via the Use of Haplotype Estimation

artículo científico publicado en 2015

Inversin/Nephrocystin-2 is required for fibroblast polarity and directional cell migration

artículo científico publicado en 2013

Investigation into the Importance of genes encoding ciliary proteins in congenital heart disease using whole exome sequencing.

artículo científico publicado en 2015

Is the novel SCKL3 at 14q23 the predominant Seckel locus?

artículo científico publicado en 2003

Isolation of a gene encoding an integral membrane protein from the vicinity of a balanced translocation breakpoint associated with DiGeorge syndrome

artículo científico publicado en 1995

Isolation of a gene expressed during early embryogenesis from the region of 22q11 commonly deleted in DiGeorge syndrome

artículo científico publicado en 1993

Isolation of a new marker and conserved sequences close to the DiGeorge syndrome marker HP500 (D22S134).

artículo científico publicado en 1993

Lack of major involvement of human uroplakin genes in vesicoureteral reflux: implications for disease heterogeneity

artículo científico publicado en 2004

Left-isomerism sequence and maternal type-1 diabetes

scientific article published on 01 July 1999

Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis-van Creveld syndrome with borderline intelligence.

artículo científico publicado en 2008

Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects

artículo científico publicado en 2000

Low-frequency intermediate penetrance variants in the ROCK1 gene predispose to Tetralogy of Fallot

artículo científico publicado en 2013

Maternal uniparental disomy for chromosome 2 in association with confined placental mosaicism for trisomy 2 and severe intrauterine growth retardation

artículo científico publicado en 1996

Maternal uniparental heterodisomy for chromosome 2: detection through 'atypical' maternal AFP/hCG levels, with an update on a previous case.

artículo científico publicado en 2001

Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries).

artículo científico publicado en 2003

Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome

artículo científico publicado en 1992

Monozygotic twins with chromosome 22q11 deletion and discordant phenotype

artículo científico publicado en 1995

Mutational analysis of the PITX2 coding region revealed no common cause for transposition of the great arteries (dTGA)

artículo científico publicado en 2005

Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome

artículo científico publicado en 2008

Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination

artículo científico publicado en 2003

Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development

artículo científico publicado en 2015

Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus

artículo científico publicado en 2000

Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis

artículo científico publicado en 2000

Mutations in complement factor I predispose to development of atypical hemolytic uremic syndrome

artículo científico publicado en 2005

Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome

artículo científico publicado en 2003

Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization

artículo científico publicado en 2012

Mutations in the Sarcomere Gene MYH7 in Ebstein Anomaly

article

Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome

artículo científico publicado en 2003

Neuromuscular disease presentation with three genetic defects involving two genomes

artículo científico publicado en 2009

New dysmorphic syndrome with choanal atresia in siblings

artículo científico publicado el 1 de julio de 1992

Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation

artículo científico publicado en 2012

Novel compound heterozygous mutations in AMN cause Imerslund-Gräsbeck syndrome in two half-sisters: a case report

artículo científico publicado en 2015

Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls

artículo científico publicado en 2012

Positional mapping of PRKD1, NRP1 and PRDM1 as novel candidate disease genes in truncus arteriosus.

artículo científico publicado en 2015

Prenatal detection of multiple copies of a familial supernumerary marker chromosome

artículo científico publicado en 1992

Prenatal diagnosis of mosaic trisomy 8 with investigations of the extent and origin of trisomic cells

artículo científico publicado en 1998

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation

scholarly article

Primary, nonsyndromic vesicoureteric reflux and its nephropathy is genetically heterogeneous, with a locus on chromosome 1.

artículo científico publicado en 2000

Primary, nonsyndromic vesicoureteric reflux and nephropathy in sibling pairs: a United Kingdom cohort for a DNA bank

artículo científico publicado en 2011

Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve

artículo científico publicado en 2017

Renal Abnormalities on Obstetric Ultrasound as a presentation of DiGeorge Syndrome ⬇️

artículo científico publicado el 1 de septiembre de 1997

Reply to letters regarding clinical features of chromosome 22q11 deletion.

artículo científico publicado en 1998

Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.

artículo científico publicado en 2006

Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutations

artículo científico publicado en 2002

Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium

artículo científico publicado en 2015

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study ⬇️

artículo científico publicado el 1 de octubre de 1997

Successful (?) therapy of hemolytic-uremic syndrome with factor H abnormality

artículo científico publicado en 2003

Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants.

artículo científico publicado en 2010

The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care.

artículo científico publicado en 2015

The ciliary Evc/Evc2 complex interacts with Smo and controls Hedgehog pathway activity in chondrocytes by regulating Sufu/Gli3 dissociation and Gli3 trafficking in primary cilia

artículo científico publicado en 2012

The decay accelerating factor mutation I197V found in hemolytic uraemic syndrome does not impair complement regulation.

artículo científico publicado en 2007

The development of atypical haemolytic-uraemic syndrome is influenced by susceptibility factors in factor H and membrane cofactor protein: evidence from two independent cohorts

artículo científico publicado en 2005

The development of atypical hemolytic uremic syndrome is not influenced by thrombophilia susceptibility factors

artículo científico publicado en 2005

The genetics and pathogenesis of haemolytic uraemic syndrome and thrombotic thrombocytopenic purpura

artículo científico publicado en 2002

The left-right determinant inversin has highly conserved ankyrin repeat and IQ domains and interacts with calmodulin.

artículo científico publicado en 2002

Three new polymorphisms in the human complement factor H gene and promoter region ⬇️

artículo científico publicado el 1 de enero de 1997

Transmission of Proteus syndrome from father to son? ⬇️

artículo científico publicado el 1 de noviembre de 1991

Trisomy 12 mosaicism in a 7 year old girl with dysmorphic features and normal mental development

artículo científico publicado en 1994

UFD1L is not the monogenic basis for heart defects associated with the CATCH phenotype

scientific article published on 01 January 2000

Urinary tract effects of HPSE2 mutations

artículo científico publicado en 2014

Using population data for assessing next-generation sequencing performance

artículo científico publicado en 2014

Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus

artículo científico publicado el 9 de mayo de 1992

Whole-genome linkage and association scan in primary, nonsyndromic vesicoureteric reflux

artículo científico publicado en 2009

Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling.

artículo científico publicado en 2009

X-inactivation patterns in monozygotic and dizygotic female twins

artículo científico publicado en 1996

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