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Specific correction of a splice defect in brain by nutritional supplementation

Human molecular genetics, 2011-11, Vol.20 (21), p.4093-4101

2011

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Tissue-Specific Expression of a Splicing Mutation in the IKBKAP Gene Causes Familial Dysautonomia

American journal of human genetics, 2001-03, Vol.68 (3), p.598-605

2001

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New locus for autosomal dominant mitral valve prolapse on chromosome 13 : Clinical insights from genetic studies

Circulation (New York, N.Y.), 2005-09, Vol.112 (13), p.2022-2030

2005

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Rescue of a human mRNA splicing defect by the plant cytokinin kinetin

Human molecular genetics, 2004-02, Vol.13 (4), p.429-436

2004

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A humanized IKBKAP transgenic mouse models a tissue-specific human splicing defect

Genomics (San Diego, Calif.), 2007-09, Vol.90 (3), p.389-396

2007

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Tissue-Specific Reduction in Splicing Efficiency of IKBKAP Due to the Major Mutation Associated with Familial Dysautonomia

American journal of human genetics, 2003-03, Vol.72 (3), p.749-758

2003

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A Locus for Autosomal Dominant Mitral Valve Prolapse on Chromosome 11p15.4

American journal of human genetics, 2003-06, Vol.72 (6), p.1551-1559

2003

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Identification of the first non-Jewish mutation in familial Dysautonomia

American journal of medical genetics, 2003-05, Vol.118A (4), p.305-308

2003

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Molecular cloning and developmental expression of a small ribonuclear protein in the mouse testis

Molecular reproduction and development, 1997-04, Vol.46 (4), p.459-470

1997

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Of splice and men: what does the distribution of IKAP mRNA in the rat tell us about the pathogenesis of familial dysautonomia?

Brain research, 2003-09, Vol.983 (1), p.209-214

2003

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Precise Genetic Mapping and Haplotype Analysis of the Familial Dysautonomia Gene on Human Chromosome 9q31

American journal of human genetics, 1999-04, Vol.64 (4), p.1110-1118

1999

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Cloning, characterization, and genomic structure of the mouse Ikbkap gene

DNA and cell biology, 2001-09, Vol.20 (9), p.579-586

2001

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Cloning, Mapping, and Expression of Two Novel Actin Genes, Actin-like-7A (ACTL7A) and Actin-like-7B (ACTL7B), from the Familial Dysautonomia Candidate Region on 9q31

Genomics (San Diego, Calif.), 1999-06, Vol.58 (3), p.302-309

1999

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A Physical and Transcript Map of the MCOLN1 Gene Region on Human Chromosome 19p13.3–p13.2

Genomics (San Diego, Calif.), 2001-04, Vol.73 (2), p.203-210

2001

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Cloning, genomic organization and expression of a putative human transmembrane protein related to the Caenorhabditis elegans M01F1.4 gene

Gene, 1999-11, Vol.240 (1), p.67-73

1999

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Cloning, mapping, and expression of a novel brain-specific transcript in the familial dysautonomia candidate region on chromosome 9q31

Mammalian genome, 2000-01, Vol.11 (1), p.81-83

2000

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Tracheal stenosis in children with bronchial disease symptomatology

Annales de pediatrie, 1972-01, Vol.19 (1), p.29

1972

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Gaseous swelling during pleuropulmonary suppuration in infants

Annales de pediatrie, 1972-01, Vol.19 (1), p.43

1972

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Pulmonary hemosiderosis with a normal thoracic picture

Annales de pediatrie, 1972-01, Vol.19 (1), p.49

1972

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Religious Persecution in Tuscany: The Madiai

The Catholic Layman, 1852-11, Vol.1 (11), p.128

Leyne, M. R.

1852

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An experimental study of electrochemical incompatibility between repaired patch concrete and existing old concrete

Construction & building materials, 2018-06, Vol.174, p.159-172

2018

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Genetic control of wheat quality: interactions between chromosomal regions determining protein content and composition, dough rheology, and sponge and dough baking properties

Theoretical and applied genetics, 2009-05, Vol.118 (8), p.1519-1537

2009

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Loss of Mouse Ikbkap, a Subunit of Elongator, Leads to Transcriptional Deficits and Embryonic Lethality That Can Be Rescued by Human IKBKAP

Molecular and Cellular Biology, 2009-02, Vol.29 (3), p.736-744

2009

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Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomia

Journal of molecular medicine (Berlin, Germany), 2007-02, Vol.85 (2), p.149-161

2007

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Effects of a novel barley, Himalaya 292, on rheological and breadmaking properties of wheat and barley doughs

Cereal chemistry, 2005-11, Vol.82 (6), p.626-632

2005

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Specific correction of a splice defect in brain by nutritional supplementation

Tissue-Specific Expression of a Splicing Mutation in the IKBKAP Gene Causes Familial Dysautonomia

New locus for autosomal dominant mitral valve prolapse on chromosome 13 : Clinical insights from genetic studies

Rescue of a human mRNA splicing defect by the plant cytokinin kinetin

A humanized IKBKAP transgenic mouse models a tissue-specific human splicing defect

Tissue-Specific Reduction in Splicing Efficiency of IKBKAP Due to the Major Mutation Associated with Familial Dysautonomia

A Locus for Autosomal Dominant Mitral Valve Prolapse on Chromosome 11p15.4

Identification of the first non-Jewish mutation in familial Dysautonomia

Molecular cloning and developmental expression of a small ribonuclear protein in the mouse testis

Of splice and men: what does the distribution of IKAP mRNA in the rat tell us about the pathogenesis of familial dysautonomia?

Precise Genetic Mapping and Haplotype Analysis of the Familial Dysautonomia Gene on Human Chromosome 9q31

Cloning, characterization, and genomic structure of the mouse Ikbkap gene

Cloning, Mapping, and Expression of Two Novel Actin Genes, Actin-like-7A (ACTL7A) and Actin-like-7B (ACTL7B), from the Familial Dysautonomia Candidate Region on 9q31

A Physical and Transcript Map of the MCOLN1 Gene Region on Human Chromosome 19p13.3–p13.2

Cloning, genomic organization and expression of a putative human transmembrane protein related to the Caenorhabditis elegans M01F1.4 gene

Cloning, mapping, and expression of a novel brain-specific transcript in the familial dysautonomia candidate region on chromosome 9q31

Tracheal stenosis in children with bronchial disease symptomatology

Gaseous swelling during pleuropulmonary suppuration in infants

Pulmonary hemosiderosis with a normal thoracic picture

Religious Persecution in Tuscany: The Madiai

An experimental study of electrochemical incompatibility between repaired patch concrete and existing old concrete

Genetic control of wheat quality: interactions between chromosomal regions determining protein content and composition, dough rheology, and sponge and dough baking properties

Loss of Mouse Ikbkap, a Subunit of Elongator, Leads to Transcriptional Deficits and Embryonic Lethality That Can Be Rescued by Human IKBKAP

Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomia

Effects of a novel barley, Himalaya 292, on rheological and breadmaking properties of wheat and barley doughs

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