Filtros de búsqueda

Lista de obras de Nicholas Katsanis

A Genocentric Approach to Discovery of Mendelian Disorders

scientific article published on 24 October 2019

A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology

artículo científico publicado en 2015

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies ⬇️

artículo científico publicado en 2009

A computational/functional genomics approach for the enrichment of the retinal transcriptome and the identification of positional candidate retinopathy genes.

artículo científico publicado en 2002

A functional variant in the CFI gene confers a high risk of age-related macular degeneration

artículo científico publicado en 2013

A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features.

artículo científico publicado en 2018

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

artículo científico publicado en 2015

A manually curated functional annotation of the human X chromosome.

artículo científico publicado en 2005

A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype.

artículo científico publicado en 2014

A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness

artículo científico publicado en 2010

A novel C-terminal binding protein (CTBP2) is closely related to CTBP1, an adenovirus E1A-binding protein, and maps to human chromosome 21q21.3

artículo científico publicado en 1998

A novel missense mutation of Wilms' Tumor 1 causes autosomal dominant FSGS.

artículo científico publicado en 2014

A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans

artículo científico publicado en 2014

A novel test for recessive contributions to complex diseases implicates Bardet-Biedl syndrome gene BBS10 in idiopathic type 2 diabetes and obesity

artículo científico publicado en 2014

A rare penetrant mutation in CFH confers high risk of age-related macular degeneration.

artículo científico publicado en 2011

A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa

artículo científico publicado en 2010

A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2

artículo científico publicado en 2005

A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition

artículo científico publicado en 2011

AMD and the alternative complement pathway: genetics and functional implications

artículo científico publicado en 2016

ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry

artículo científico publicado en 2013

Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis

artículo científico publicado en 2014

Age-severity relationships in families linked to FCD2 with retroillumination photography

artículo científico publicado en 2010

An age-old problem

artículo científico publicado en 2007

An essential role for DYF-11/MIP-T3 in assembling functional intraflagellar transport complexes

artículo científico publicado en 2008

An evaluation of the draft human genome sequence

scientific article published on 01 September 2001

An improved protocol for the analysis of SOD1 gene mutations, and a new mutation in exon 4.

artículo científico publicado en 1995

An improved protocol for the analysis of SODI gene mutations, and a new mutation in exon 4

article

Analysis of 30 genes (355 SNPS) related to energy homeostasis for association with adiposity in European-American and Yup'ik Eskimo populations

artículo científico publicado en 2009

Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome

artículo científico publicado en 2010

Association of Whirlin with Cav1.3 (α1D) Channels in Photoreceptors, Defining a Novel Member of the Usher Protein Network

artículo científico publicado en 2009

Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination

artículo científico publicado en 2013

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

artículo científico publicado en 2006

BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance

artículo científico publicado en 2002

BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies

artículo científico publicado en 2015

Bardet-Biedl Syndrome in an African-American patient: should the diagnostic criteria be expanded to include hydrometrocolpos?

artículo científico publicado en 2007

Bardet-Biedl syndrome-associated small GTPase ARL6 (BBS3) functions at or near the ciliary gate and modulates Wnt signaling

artículo científico publicado en 2010

Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome

artículo científico publicado en 2003

Beyond Mendel: an evolving view of human genetic disease transmission

artículo científico publicado en 2002

CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290

artículo científico publicado en 2008

CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs

artículo científico publicado en 2011

CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors

artículo científico publicado en 2014

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder

artículo científico publicado en 2015

CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age

scientific article published on 03 December 2019

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

artículo científico publicado en 2010

Cell Polarization Defects in Early Heart Development

article

Cilia in vertebrate development and disease

artículo científico publicado en 2012

Ciliary function and Wnt signal modulation

artículo científico publicado en 2008

Ciliary proteins and exencephaly

artículo científico publicado en 2006

Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators

artículo científico publicado en 2014

Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study

artículo científico publicado en 2005

Combining fetal sonography with genetic and allele pathogenicity studies to secure a neonatal diagnosis of Bardet-Biedl syndrome

artículo científico publicado en 2012

Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration

artículo científico publicado en 2011

Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene

scientific journal article

Context-dependent regulation of Wnt signaling through the primary cilium

artículo científico publicado en 2013

Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome

artículo científico publicado en 2016

Corrigendum: BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

scholarly article published in Nature Genetics

Cystic diseases of the kidney: ciliary dysfunction and cystogenic mechanisms

artículo científico publicado en 2010

DISC1-dependent switch from progenitor proliferation to migration in the developing cortex

scientific journal article

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

artículo científico publicado en 2017

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

scientific article published on 01 April 2017

De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.

artículo científico publicado en 2015

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

artículo científico publicado en 2013

Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees

artículo científico publicado en 1999

Direct role of Bardet-Biedl syndrome proteins in transcriptional regulation

artículo científico publicado en 2012

Discovery and functional annotation of SIX6 variants in primary open-angle glaucoma

artículo científico publicado en 2014

Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates

scientific journal article

Disruption of a Ciliary B9 Protein Complex Causes Meckel Syndrome.

artículo científico publicado en 2011

Disruption of a ciliary B9 protein complex causes Meckel syndrome

scientific journal article

Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response

artículo científico publicado en 2007

Disruptive CHD8 mutations define a subtype of autism early in development

artículo científico publicado en 2014

Dissecting intraflagellar transport, one molecule at a time

artículo científico publicado en 2014

Dissection of epistasis in oligogenic Bardet-Biedl syndrome

artículo científico publicado en 2006

Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes

artículo científico publicado en 2014

Ectopic overexpression of Sonic Hedgehog (Shh) induces stromal expansion and metaplasia in the adult murine pancreas

artículo científico publicado en 2011

Elution profile analysis of SDS-induced subcomplexes by quantitative mass spectrometry

artículo científico publicado en 2014

Endoglin mediates fibronectin/α5β1 integrin and TGF-β pathway crosstalk in endothelial cells

artículo científico publicado en 2012

Endoglin regulates PI3-kinase/Akt trafficking and signaling to alter endothelial capillary stability during angiogenesis

artículo científico publicado en 2012

Epigenetic control of intestinal barrier function and inflammation in zebrafish

artículo científico publicado en 2015

Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease

scholarly article

Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease

artículo científico publicado en 2007

Erratum: Corrigendum: Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates

scholarly article published in Nature Genetics

Erratum: Corrigendum: Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

article

Erratum: Corrigendum: TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

scholarly article published in Nature Genetics

Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy

artículo científico publicado en 2020

Evolutionarily assembled cis-regulatory module at a human ciliopathy locus

artículo científico publicado en 2012

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

artículo científico publicado en 2015

Exome and genome sequencing of neonates with neurodevelopmental disorders

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling

artículo científico publicado en 2012

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations

artículo científico publicado en 2017

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations

artículo científico publicado en 2017

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus

artículo científico publicado en 2013

From association to causality: the new frontier for complex traits

artículo científico publicado en 2009

Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome

artículo científico publicado en 2010

Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins

artículo científico publicado en 2009

Functional modules, mutational load and human genetic disease

artículo científico publicado en 2010

Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency.

artículo científico publicado en 2014

Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1

artículo científico publicado en 2001

Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model

artículo científico publicado en 2012

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome

artículo científico publicado en 2017

Genetic and functional dissection of HTRA1 and LOC387715 in age-related macular degeneration

artículo científico publicado en 2010

Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci

artículo científico publicado en 2001

Genetic architecture of reciprocal CNVs

artículo científico

Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome

artículo científico publicado en 2003

Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration

artículo científico publicado en 2010

Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC)

artículo científico publicado en 2010

Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes

scientific journal article

Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus

artículo científico publicado en 2003

High resolution physical mapping and identification of transcribed sequences in the Down syndrome region-2.

artículo científico publicado en 1998

High-resolution comparative physical mapping of mouse Chromosome 10 in the region of homology with human Chromosome 21

scientific article published on 01 March 1999

Human guanylate kinase (GUK1): cDNA sequence, expression and chromosomal localisation.

artículo científico publicado en 1996

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

artículo científico publicado en 2008

Identification and mapping of a novel human gene, HRMT1L1, homologous to the rat protein arginine N-methyltransferase 1 (PRMT1) gene

artículo científico publicado en 1997

Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping

artículo científico publicado en 2009

Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease

artículo científico publicado en 2010

Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome

artículo científico publicado en 2007

Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.

artículo científico publicado en 2003

Identification of novel genes expressed during metanephric induction through single-cell library screening.

artículo científico publicado en 2000

Identification, expression, and chromosomal localization of ubiquitin conjugating enzyme 7 (UBE2G2), a human homologue of the Saccharomyces cerevisiae ubc7 gene

artículo científico publicado en 1998

Impaired photoreceptor protein transport and synaptic transmission in a mouse model of Bardet-Biedl syndrome

artículo científico publicado en 2007

Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy

artículo científico publicado en 2010

Interpreting human genetic variation with in vivo zebrafish assays

artículo científico publicado en 2014

Isolation of a paralog of the Doyne honeycomb retinal dystrophy gene from the multiple retinopathy critical region on 11q13

artículo científico publicado en 2000

KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant

artículo científico publicado en 2012

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

artículo científico publicado en 2011

Life without centrioles: cilia in the spotlight

artículo científico publicado en 2006

Linkage of a mild late-onset phenotype of Fuchs corneal dystrophy to a novel locus at 5q33.1-q35.2.

artículo científico publicado en 2009

Localisation of receptor interacting protein 140 (RIP140) within 100 kb of D21S13 on 21q11, a gene-poor region of the human genome

artículo científico publicado en 1998

Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse

scientific journal article

Loss of Bardet Biedl syndrome proteins causes defects in peripheral sensory innervation and function

artículo científico publicado en 2007

Loss of Bardet-Biedl syndrome protein-8 (BBS8) perturbs olfactory function, protein localization, and axon targeting

scientific journal article

Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport

artículo científico publicado en 2004

Loss of Function Mutations in NNT Are Associated With Left Ventricular Noncompaction

artículo científico publicado en 2015

Loss of δ-catenin function in severe autism

artículo científico publicado en 2015

MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis

artículo científico publicado en 2005

Managing incidental genomic findings in clinical trials: fulfillment of the principle of justice

artículo científico publicado en 2014

Mapping of a novel SH3 domain protein and two proteins of unknown function to human chromosome 21.

artículo científico publicado en 1997

Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy

artículo científico publicado en 2009

Metabolic regulation and energy homeostasis through the primary Cilium

artículo científico publicado en 2014

Microtubule transport defects in neurological and ciliary disease

artículo científico publicado en 2005

Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p.

artículo científico publicado en 2009

Missense mutations in the sodium borate cotransporter SLC4A11 cause late-onset Fuchs corneal dystrophy

artículo científico publicado en 2010

Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes

artículo científico publicado en 2011

Molecular genetic testing and the future of clinical genomics

artículo científico publicado en 2013

Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals

artículo científico publicado en 2010

Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies

artículo científico publicado en 2015

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

artículo científico publicado en 2012

Mutations in AGBL1 cause dominant late-onset Fuchs corneal dystrophy and alter protein-protein interaction with TCF4

artículo científico publicado en 2013

Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans

artículo científico publicado en 2013

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

scientific journal article

Mutations in LOXHD1, a recessive-deafness locus, cause dominant late-onset Fuchs corneal dystrophy

artículo científico publicado en 2012

Mutations in LRRC50 predispose zebrafish and humans to seminomas

artículo científico publicado en 2013

Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome

artículo científico publicado en 2000

Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstruction

artículo científico publicado en 2015

Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly

artículo científico publicado en 2011

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

artículo científico publicado en 2010

Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome

artículo científico publicado en 2004

Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia

artículo científico publicado en 2015

Nde1-mediated inhibition of ciliogenesis affects cell cycle re-entry

artículo científico publicado en 2011

Neuroscience: Imprinting in the brain

artículo científico publicado en 2011

Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1

artículo científico publicado en 2002

Next-generation sequencing of the human olfactory receptors

artículo científico publicado en 2013

Novel bone morphogenetic protein signaling through Smad2 and Smad3 to regulate cancer progression and development

artículo científico publicado en 2013

OTX2 mutations contribute to the otocephaly-dysgnathia complex.

artículo científico publicado en 2012

Oligogenic Disease

PCM1 is necessary for focal ciliary integrity and is a candidate for severe schizophrenia

artículo científico publicado en 2020

Paralogy mapping: identification of a region in the human MHC triplicated onto human chromosomes 1 and 9 allows the prediction and isolation of novel PBX and NOTCH loci

artículo científico publicado en 1996

Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome

artículo científico publicado en 2017

Participant-Partners in Genetic Research: An Exome Study with Families of Children with Unexplained Medical Conditions

artículo científico publicado en 2018

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

article

Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity

scientific journal article

Pitchfork regulates primary cilia disassembly and left-right asymmetry

artículo científico publicado en 2010

Planar cell polarity acts through septins to control collective cell movement and ciliogenesis.

artículo científico publicado en 2010

Population bottlenecks as a potential major shaping force of human genome architecture

artículo científico publicado en 2007

Prevalence and severity of fuchs corneal dystrophy in Tangier Island

artículo científico publicado en 2012

Progression of Fuchs corneal dystrophy in a family linked to the FCD1 locus

artículo científico publicado en 2009

Rapid identification of kidney cyst mutations by whole exome sequencing in zebrafish

artículo científico publicado en 2013

Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration

scientific article published on 15 September 2013

Recruitment of PCM1 to the centrosome by the cooperative action of DISC1 and BBS4: a candidate for psychiatric illnesses

artículo científico publicado en 2008

Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome

artículo científico publicado en 2014

Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome

artículo científico publicado en 2012

Renal cystic disease: from mechanisms to drug development

article

Replication of TCF4 through association and linkage studies in late-onset Fuchs endothelial corneal dystrophy

artículo científico publicado en 2011

Replication of the TCF4 intronic variant in late-onset Fuchs corneal dystrophy and evidence of independence from the FCD2 locus

artículo científico publicado en 2011

SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant

artículo científico publicado en 2013

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

artículo científico publicado en 2017

Seven new loci associated with age-related macular degeneration

artículo científico publicado en 2013

Small molecule intervention in microtubule-associated human disease

artículo científico publicado en 2005

TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities

scientific article published on 27 June 2013

TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone.

artículo científico publicado en 2015

TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone

artículo científico publicado en 2011

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

artículo científico publicado en 2011

Targeted resequencing and systematic in vivo functional testing identifies rare variants in MEIS1 as significant contributors to restless legs syndrome

artículo científico publicado en 2014

The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes

artículo científico publicado en 2001

The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression

artículo científico publicado en 2004

The Bardet-Biedl syndrome-related protein CCDC28B modulates mTORC2 function and interacts with SIN1 to control cilia length independently of the mTOR complex

artículo científico publicado en 2013

The Ciliopathies: An Emerging Class of Human Genetic Disorders

artículo científico publicado en 2006

The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation

artículo científico publicado en 2007

The centrosome in human genetic disease

artículo científico publicado en 2005

The ciliopathies: a transitional model into systems biology of human genetic disease

artículo científico publicado en 2012

The emerging complexity of the vertebrate cilium: new functional roles for an ancient organelle

artículo científico publicado en 2006

The gene encoding the p60 subunit of chromatin assembly factor I (CAF1P60) maps to human chromosome 21q22.2, a region associated with some of the major features of Down syndrome

artículo científico publicado en 1996

The immunophilin FKBP4 (FKBP52/FKBP59) maps to the distal short arm of human chromosome 12

artículo científico publicado en 1998

The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes

artículo científico publicado en 2015

Thermosensory and mechanosensory perception in human genetic disease

artículo científico publicado en 2009

Toll-like receptor 3 and geographic atrophy in age-related macular degeneration

artículo científico publicado en 2008

Transient laminin beta 1a Induction Defines the Wound Epidermis during Zebrafish Fin Regeneration

artículo científico publicado en 2015

Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder

artículo científico publicado en 2001

Triallelic inheritance: a bridge between Mendelian and multifactorial traits

artículo científico publicado en 2004

Understanding cargo specificity in intraflagellar transport

artículo científico publicado en 2011

Whole exome sequencing and functional studies identify an intronic mutation in TRAPPC2 that causes SEDT.

artículo científico publicado en 2013

Whole exome sequencing of a dominant retinitis pigmentosa family identifies a novel deletion in PRPF31

scientific article published on 07 April 2014

Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene

artículo científico publicado en 2013

Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies

artículo científico publicado en 2013

Zebrafish assays of ciliopathies

artículo científico publicado en 2011

Dominio Público Uruguay está sostenido por:

Acerca de Dominio Público Uruguay

Ayuda