Lista de obras - Joanna Crawford - Dominio Público Uruguay

1024C> T (R342X) is a recurrent PHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family

artículo científico publicado en 2004

A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum

artículo científico publicado en 2013

A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy

artículo científico publicado en 2017

A splicing mutation (1898 + 1G-->T) in the CFTR gene causing cystic fibrosis.

artículo científico publicado en 1995

Analysis of Australian Crohn's disease pedigrees refines the localization for susceptibility to inflammatory bowel disease on chromosome 16

scientific article published on 01 July 1998

Apicomplexan parasite adhesins: novel strategies for targeting host cell carbohydrates.

artículo científico publicado en 2010

Babesia divergensandNeospora caninumapical membrane antigen 1 structures reveal selectivity and plasticity in apicomplexan parasite host cell invasion

artículo científico publicado en 2013

Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy

artículo científico publicado en 2019

Characterization and screening for mutations of the growth arrest-specific 11 (GAS11) and C16orf3 genes at 16q24.3 in breast cancer

artículo científico publicado en 1998

Characterization of copine VII, a new member of the copine family, and its exclusion as a candidate in sporadic breast cancers with loss of heterozygosity at 16q24.3

artículo científico publicado en 1999

Cloning, characterization, and chromosomal location of a novel human K+-Cl- cotransporter

artículo científico publicado en 1999

Construction of a high-resolution physical and transcription map of chromosome 16q24.3: a region of frequent loss of heterozygosity in sporadic breast cancer.

artículo científico publicado en 1998

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

scientific article published on 18 July 2019

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

scientific article published on 01 September 2019

Defining regions of loss of heterozygosity of 16q in breast cancer cell lines

scientific article published on 01 February 2002

Dynamic mutation loci: allele distributions in different populations

artículo científico publicado en 1996

Erratum: Corrigendum: Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy

article

Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome

artículo científico publicado en 2016

Expression and function of the protein tyrosine phosphatase receptor J (PTPRJ) in normal mammary epithelial cells and breast tumors

artículo científico publicado en 2012

Genome-wide discovery of human splicing branchpoints

artículo científico publicado en 2015

Genomic structure and expression analysis of the spastic paraplegia gene, SPG7

article

Human GALR1 galanin receptor (GALNR1). Map position 18q23.

artículo científico publicado en 1999

Human HPA endoglycosidase heparanase. Map position 4q21.3.

artículo científico publicado en 1999

Identification of miR-29b targets using 3-cyanovinylcarbazole containing mimics

artículo científico publicado en 2017

Improved definition of the mouse transcriptome via targeted RNA sequencing

artículo científico publicado en 2016

Intergenic disease-associated regions are abundant in novel transcripts.

artículo científico publicado en 2017

Is there a relationship between Wolfram syndrome carrier status and suicide?

artículo científico publicado en 2002

Isolation, Tissue Distribution, and Chromosomal Localization of a Novel Testis-Specific Human Four-Transmembrane Gene Related to CD20 and FcϵRI-β

article

Leukoencephalopathy due to variants in GFPT1-associated congenital myasthenic syndrome

artículo científico publicado en 2019

Localization of human cadherin genes to chromosome regions exhibiting cancer-related loss of heterozygosity

artículo científico publicado en 1998

Long Noncoding RNAs CUPID1 and CUPID2 Mediate Breast Cancer Risk at 11q13 by Modulating the Response to DNA Damage.

artículo científico

Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect

artículo científico publicado en 2015

Mapping of the gene for vascular endothelial growth factor-D in mouse and man to the X chromosome

artículo científico publicado en 1997

Molecular cloning and characterisation of GPR74 a novel G-protein coupled receptor closest related to the Y-receptor family

artículo científico publicado en 2000

Mutation analysis of the Fanconi anaemia A gene in breast tumours with loss of heterozygosity at 16q24.3.

artículo científico publicado en 1999

Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient

artículo científico publicado en 2006

Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.

artículo científico publicado en 2013

Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy

artículo científico publicado en 2014

No evidence for association of 5-HT2A receptor polymorphism with suicide

artículo científico publicado en 2000

Patient-iPSC-Derived Kidney Organoids Show Functional Validation of a Ciliopathic Renal Phenotype and Reveal Underlying Pathogenetic Mechanisms

Quantitative gene profiling of long noncoding RNAs with targeted RNA sequencing

artículo científico publicado en 2015

SNORD-host RNA Zfas1 is a regulator of mammary development and a potential marker for breast cancer

artículo científico publicado en 2011

Sequencing, transcript identification, and quantitative gene expression profiling in the breast cancer loss of heterozygosity region 16q24.3 reveal three potential tumor-suppressor genes

artículo científico publicado en 2002

Structural Characterization of Apical Membrane Antigen 1 (AMA1) from Toxoplasma gondii

artículo científico publicado en 2010

Structural Characterization of the Bradyzoite Surface Antigen (BSR4) from Toxoplasma gondii, a Unique Addition to the Surface Antigen Glycoprotein 1-related Superfamily

artículo científico publicado en 2009

Structure of the micronemal protein 2 A/I domain fromToxoplasma gondii

artículo científico publicado en 2010

Targeted RNA sequencing reveals the deep complexity of the human transcriptome

artículo científico publicado en 2011

Targeted sequencing for gene discovery and quantification using RNA CaptureSeq

artículo científico publicado en 2014

The Evx1/Evx1as gene locus regulates anterior-posterior patterning during gastrulation

artículo científico publicado en 2016

The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene.

artículo científico publicado en 2004

The human mitochondrial transcriptome

artículo científico publicado en 2011

The melanoma-upregulated long noncoding RNA SPRY4-IT1 modulates apoptosis and invasion

artículo científico publicado en 2011

Universal Alternative Splicing of Noncoding Exons

artículo científico publicado en 2018

Whole exome sequencing in patients with white matter abnormalities.

artículo científico publicado en 2016

X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1.

artículo científico publicado en 2017

Lista de obras de Joanna Crawford

1024C> T (R342X) is a recurrent PHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family

A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum

A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy

A splicing mutation (1898 + 1G-->T) in the CFTR gene causing cystic fibrosis.

Analysis of Australian Crohn's disease pedigrees refines the localization for susceptibility to inflammatory bowel disease on chromosome 16

Apicomplexan parasite adhesins: novel strategies for targeting host cell carbohydrates.

Babesia divergensandNeospora caninumapical membrane antigen 1 structures reveal selectivity and plasticity in apicomplexan parasite host cell invasion

Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy

Characterization and screening for mutations of the growth arrest-specific 11 (GAS11) and C16orf3 genes at 16q24.3 in breast cancer

Characterization of copine VII, a new member of the copine family, and its exclusion as a candidate in sporadic breast cancers with loss of heterozygosity at 16q24.3

Cloning, characterization, and chromosomal location of a novel human K+-Cl- cotransporter

Construction of a high-resolution physical and transcription map of chromosome 16q24.3: a region of frequent loss of heterozygosity in sporadic breast cancer.

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

Defining regions of loss of heterozygosity of 16q in breast cancer cell lines

Dynamic mutation loci: allele distributions in different populations

Erratum: Corrigendum: Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy

Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome

Expression and function of the protein tyrosine phosphatase receptor J (PTPRJ) in normal mammary epithelial cells and breast tumors

Genome-wide discovery of human splicing branchpoints

Genomic structure and expression analysis of the spastic paraplegia gene, SPG7

Human GALR1 galanin receptor (GALNR1). Map position 18q23.

Human HPA endoglycosidase heparanase. Map position 4q21.3.

Identification of miR-29b targets using 3-cyanovinylcarbazole containing mimics

Improved definition of the mouse transcriptome via targeted RNA sequencing

Intergenic disease-associated regions are abundant in novel transcripts.

Is there a relationship between Wolfram syndrome carrier status and suicide?

Isolation, Tissue Distribution, and Chromosomal Localization of a Novel Testis-Specific Human Four-Transmembrane Gene Related to CD20 and FcϵRI-β

Leukoencephalopathy due to variants in GFPT1-associated congenital myasthenic syndrome

Localization of human cadherin genes to chromosome regions exhibiting cancer-related loss of heterozygosity

Long Noncoding RNAs CUPID1 and CUPID2 Mediate Breast Cancer Risk at 11q13 by Modulating the Response to DNA Damage.

Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect

Mapping of the gene for vascular endothelial growth factor-D in mouse and man to the X chromosome

Molecular cloning and characterisation of GPR74 a novel G-protein coupled receptor closest related to the Y-receptor family

Mutation analysis of the Fanconi anaemia A gene in breast tumours with loss of heterozygosity at 16q24.3.

Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient

Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.

Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy

No evidence for association of 5-HT2A receptor polymorphism with suicide

Patient-iPSC-Derived Kidney Organoids Show Functional Validation of a Ciliopathic Renal Phenotype and Reveal Underlying Pathogenetic Mechanisms

Quantitative gene profiling of long noncoding RNAs with targeted RNA sequencing

SNORD-host RNA Zfas1 is a regulator of mammary development and a potential marker for breast cancer

Sequencing, transcript identification, and quantitative gene expression profiling in the breast cancer loss of heterozygosity region 16q24.3 reveal three potential tumor-suppressor genes

Structural Characterization of Apical Membrane Antigen 1 (AMA1) from Toxoplasma gondii

Structural Characterization of the Bradyzoite Surface Antigen (BSR4) from Toxoplasma gondii, a Unique Addition to the Surface Antigen Glycoprotein 1-related Superfamily

Structure of the micronemal protein 2 A/I domain fromToxoplasma gondii

Targeted RNA sequencing reveals the deep complexity of the human transcriptome

Targeted sequencing for gene discovery and quantification using RNA CaptureSeq

The Evx1/Evx1as gene locus regulates anterior-posterior patterning during gastrulation

The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene.

The human mitochondrial transcriptome

The melanoma-upregulated long noncoding RNA SPRY4-IT1 modulates apoptosis and invasion

Universal Alternative Splicing of Noncoding Exons

Whole exome sequencing in patients with white matter abnormalities.

X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1.