Lista de obras - Charles C Searby - Dominio Público Uruguay

A BBSome subunit links ciliogenesis, microtubule stability, and acetylation

artículo científico publicado en 2008

A Dejerine-Sottas neuropathy family with a gene mapped on chromosome 8

article

A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened

artículo científico publicado en 2011

A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye

artículo científico publicado en 2001

BBSome function is required for both the morphogenesis and maintenance of the photoreceptor outer segment

artículo científico publicado en 2017

Becker muscular dystrophy recombinant DNA studies in identical twins

artículo científico publicado en 1988

Charcot — Marie — Tooth neuropathy type 1A with both duplication and non-duplication

artículo científico publicado en 1993

Charcot-Marie-Tooth neuropathy related to chromosome 1.

artículo científico publicado en 1992

Clinical evidence of decreased olfaction in Bardet-Biedl syndrome caused by a deletion in theBBS4Gene

article

Clinical presentation of a variant of Axenfeld-Rieger syndrome associated with subtelomeric 6p deletion.

artículo científico publicado en 2006

Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3)

artículo científico publicado en 2004

Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene

artículo científico publicado en 2005

Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy

artículo científico publicado en 2010

Cyrillic 3 Standard Edition

scholarly article published June 2000

Dejerine-Sottas neuropathy in mother and son with same point mutation of PMP22 gene

article

Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71

artículo científico publicado en 2010

Duchenne muscular dystrophy in monozygotic twins: Deletion of 5′ fragments of the gene

article

Ectopic expression of human BBS4 can rescue Bardet-Biedl syndrome phenotypes in Bbs4 null mice

artículo científico publicado en 2013

Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1)

artículo científico publicado en 2003

GenTerpret 1.26

Identification and functional analysis of the vision-specific BBS3 (ARL6) long isoform

artículo científico publicado en 2010

Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome

artículo científico publicado en 2002

Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutations

artículo científico publicado en 2014

Inherited metabolic myopathy with storage of glycoproteins and glycosaminoglycans

artículo científico publicado en 1984

Linkage analysis of Charcot-Marie-Tooth neuropathy (HMSN type I)

article

Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.

artículo científico publicado en 2000

Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein.

artículo científico publicado en 2017

OMIGA 2.0

Ocular-specific ER stress reduction rescues glaucoma in murine glucocorticoid-induced glaucoma

artículo científico publicado en 2014

Plasmid 1.1

Plasmid Premier 2.02

Point mutations of the connexin32 (GJB1) gene in X-linked dominant Charcot — Marie — Tooth neuropathy

article

Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucoma

article

Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucoma.

artículo científico publicado en 2011

Screening of dominantly inherited Charcot-Marie-Tooth neuropathies

artículo científico publicado en 1993

Severe Charcot-Marie-Tooth neuropathy type 1A with 1-base pair deletion and frameshift mutation in the peripheral myelin protein 22 gene

article

X-linked dominant charcot-marie-tooth neuropathy with 15 cases in a family genetic linkage study

artículo científico publicado en 1988

X-linked recessive Charcot-Marie-Tooth neuropathy: clinical and genetic study

artículo científico publicado en 1992

Lista de obras de Charles C Searby

A BBSome subunit links ciliogenesis, microtubule stability, and acetylation

A Dejerine-Sottas neuropathy family with a gene mapped on chromosome 8

A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened

A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye

BBSome function is required for both the morphogenesis and maintenance of the photoreceptor outer segment

Becker muscular dystrophy recombinant DNA studies in identical twins

Charcot — Marie — Tooth neuropathy type 1A with both duplication and non-duplication

Charcot-Marie-Tooth neuropathy related to chromosome 1.

Clinical evidence of decreased olfaction in Bardet-Biedl syndrome caused by a deletion in theBBS4Gene

Clinical presentation of a variant of Axenfeld-Rieger syndrome associated with subtelomeric 6p deletion.

Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3)

Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene

Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy

Cyrillic 3 Standard Edition

Dejerine-Sottas neuropathy in mother and son with same point mutation of PMP22 gene

Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71

Duchenne muscular dystrophy in monozygotic twins: Deletion of 5′ fragments of the gene

Ectopic expression of human BBS4 can rescue Bardet-Biedl syndrome phenotypes in Bbs4 null mice

Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1)

GenTerpret 1.26

Identification and functional analysis of the vision-specific BBS3 (ARL6) long isoform

Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome

Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutations

Inherited metabolic myopathy with storage of glycoproteins and glycosaminoglycans

Linkage analysis of Charcot-Marie-Tooth neuropathy (HMSN type I)

Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.

Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein.

OMIGA 2.0

Ocular-specific ER stress reduction rescues glaucoma in murine glucocorticoid-induced glaucoma

Plasmid 1.1

Plasmid Premier 2.02

Point mutations of the connexin32 (GJB1) gene in X-linked dominant Charcot — Marie — Tooth neuropathy

Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucoma

Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucoma.

Screening of dominantly inherited Charcot-Marie-Tooth neuropathies

Severe Charcot-Marie-Tooth neuropathy type 1A with 1-base pair deletion and frameshift mutation in the peripheral myelin protein 22 gene

X-linked dominant charcot-marie-tooth neuropathy with 15 cases in a family genetic linkage study

X-linked recessive Charcot-Marie-Tooth neuropathy: clinical and genetic study