Lista de obras - Karen M Lower - 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

ATR-X syndrome protein targets tandem repeats and influences allele-specific expression in a size-dependent manner.

artículo científico publicado en 2010

Aberrant determination of phenotypic markers in chronic lymphocytic leukemia (CLL) lymphocytes after cryopreservation

artículo científico publicado en 2018

Adventitious changes in long-range gene expression caused by polymorphic structural variation and promoter competition

artículo científico publicado en 2009

Analysis of sequence variation underlying tissue-specific transcription factor binding and gene expression

artículo científico publicado en 2013

Borjeson-Forssman-Lehmann syndrome and multiple pituitary hormone deficiency.

artículo científico publicado en 2003

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

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

Development of locus specific sub-clone separation by fluorescence in situ hybridization in suspension in chronic lymphocytic leukemia

artículo científico publicado en 2017

Differential Telomere Shortening in Blood versus Arteries in an Animal Model of Type 2 Diabetes

artículo científico publicado en 2015

From genome to proteome: Looking beyond DNA and RNA in chronic lymphocytic leukemia.

artículo científico

Generation of bivalent chromatin domains during cell fate decisions

artículo científico publicado en 2011

High-Throughput Genetic Screening of 51 Pediatric Cataract Genes Identifies Causative Mutations in Inherited Pediatric Cataract in South Eastern Australia

artículo científico publicado en 2017

High-resolution analysis of cis-acting regulatory networks at the α-globin locus

artículo científico publicado en 2013

Identification of novel mutations causing pediatric cataract in Bhutan, Cambodia, and Sri Lanka

scientific article published on 16 May 2018

Molecular genetics of X-linked mental retardation: a complex picture emerging.

artículo científico publicado en 2001

Mutations in Kruppel-like factor 1 cause transfusion-dependent hemolytic anemia and persistence of embryonic globin gene expression

artículo científico publicado en 2014

Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome

artículo científico publicado en 2002

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

artículo científico publicado en 2002

Novel PHF6 mutation p.D333del causes Börjeson-Forssman-Lehmann syndrome ⬇️

artículo científico publicado en 2003

Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome).

artículo científico publicado en 2017

Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract.

artículo científico publicado en 2017

Recurrent mutation in the crystallin alpha A gene associated with inherited paediatric cataract.

artículo científico publicado en 2016

The Combination of Metformin and Valproic Acid Induces Synergistic Apoptosis in the Presence of p53 and Androgen Signaling in Prostate Cancer

artículo científico publicado en 2017

The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations.

artículo científico publicado en 2004

The role of the polycomb complex in silencing alpha-globin gene expression in nonerythroid cells

artículo científico publicado en 2008

Trisomy 12 assessment by conventional fluorescence in-situ hybridization (FISH), FISH in suspension (FISH-IS) and laser scanning cytometry (LSC) in chronic lymphocytic leukemia.

artículo científico publicado en 2017

Lista de obras de Karen M Lower

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

ATR-X syndrome protein targets tandem repeats and influences allele-specific expression in a size-dependent manner.

Aberrant determination of phenotypic markers in chronic lymphocytic leukemia (CLL) lymphocytes after cryopreservation

Adventitious changes in long-range gene expression caused by polymorphic structural variation and promoter competition

Analysis of sequence variation underlying tissue-specific transcription factor binding and gene expression

Borjeson-Forssman-Lehmann syndrome and multiple pituitary hormone deficiency.

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

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

Development of locus specific sub-clone separation by fluorescence in situ hybridization in suspension in chronic lymphocytic leukemia

Differential Telomere Shortening in Blood versus Arteries in an Animal Model of Type 2 Diabetes

From genome to proteome: Looking beyond DNA and RNA in chronic lymphocytic leukemia.

Generation of bivalent chromatin domains during cell fate decisions

High-Throughput Genetic Screening of 51 Pediatric Cataract Genes Identifies Causative Mutations in Inherited Pediatric Cataract in South Eastern Australia

High-resolution analysis of cis-acting regulatory networks at the α-globin locus

Identification of novel mutations causing pediatric cataract in Bhutan, Cambodia, and Sri Lanka

Molecular genetics of X-linked mental retardation: a complex picture emerging.

Mutations in Kruppel-like factor 1 cause transfusion-dependent hemolytic anemia and persistence of embryonic globin gene expression

Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome

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

Novel PHF6 mutation p.D333del causes Börjeson-Forssman-Lehmann syndrome ⬇️

Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome).

Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract.

Recurrent mutation in the crystallin alpha A gene associated with inherited paediatric cataract.

The Combination of Metformin and Valproic Acid Induces Synergistic Apoptosis in the Presence of p53 and Androgen Signaling in Prostate Cancer

The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations.

The role of the polycomb complex in silencing alpha-globin gene expression in nonerythroid cells

Trisomy 12 assessment by conventional fluorescence in-situ hybridization (FISH), FISH in suspension (FISH-IS) and laser scanning cytometry (LSC) in chronic lymphocytic leukemia.