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Molecular and genetic characterization of sarcospan : insights into sarcoglycan-sarcospan interactions

Human molecular genetics, 2000-08, Vol.9 (13), p.2019-2027

2000

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Frataxin point mutations in two patients with Friedreich's ataxia and unusual clinical features

Journal of neurology, neurosurgery and psychiatry, 2000-05, Vol.68 (5), p.661-664

2000

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Mutations in the human TWIST gene

Human mutation, 2000-02, Vol.15 (2), p.150-155

2000

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Expression of gamma -sarcoglycan in smooth muscle and its interaction with the smooth muscle sarcoglycan-sarcospan complex

The Journal of biological chemistry, 2000-12, Vol.275 (49), p.38554-38560

2000

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TWIST gene mutation in a patient with radial aplasia and craniosynostosis: Further evidence for heterogeneity of Baller-Gerold syndrome

American journal of medical genetics, 1999-01, Vol.82 (2), p.170-176

1999

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Synthesis of an altered type III procollagen in a patient with type IV Ehlers-Danlos syndrome. A structural change in the alpha 1(III) chain which makes the protein more susceptible to proteinases

The Journal of biological chemistry, 1985-02, Vol.260 (3), p.1937-1944

1985

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Expression of multiple Na+,K+-adenosine triphosphatase isoform genes in human hematopoietic cells. Behavior of the novel A3 isoform during induced maturation of HL60 cells

The Journal of clinical investigation, 1989-07, Vol.84 (1), p.347-351

1989

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A New Twist: Some Patients with Saethre-Chotzen Syndrome Have a Microdeletion Syndrome

American journal of human genetics, 1998-11, Vol.63 (5), p.1277-1281

1998

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c-myc Gene inactivation during induced maturation of HL-60 cells: transcriptional repression and loss of a specific DNAse I hypersensitive site

The Journal of clinical investigation, 1987, Vol.79 (1), p.93-99

1987

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A diagnostic approach to identifying submicroscopic 7p21 deletions in Saethre-Chotzen syndrome: Fluorescence in situ hybridization and dosage-sensitive Southern blot analysis

Genetics in medicine, 2001-03, Vol.3 (2), p.102-108

2001

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Partial covalent structure of the human alpha 2 type V collagen chain

The Journal of biological chemistry, 1985-05, Vol.260 (9), p.5533-5541

1985

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Multiple Defects in Type III Collagen Synthesis Are Associated with the Pathogenesis of Abdominal Aortic Aneurysms

Annals of the New York Academy of Sciences, 1996-11, Vol.800 (1), p.216-228

1996

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Cellular factor affecting the stability of β-globin mRNA

Gene, 1988, Vol.62 (1), p.65-74

1988

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Sequence Analysis of the γ-Globin Gene Locus from a Patient with the Deletion Form of Hereditary Persistence of Fetal Hemoglobin

Blood, 1990-01, Vol.75 (2), p.499-504

1990

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Characterization of the rat carbonic anhydrase II gene structure: sequence analysis of the 5′ flanking region and 3′ UTR

Gene, 1997-02, Vol.186 (2), p.181-188

1997

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Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III

American journal of medical genetics, 1998-07, Vol.78 (4), p.356-360

1998

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A glycine (415)-to-serine substitution results in impaired secretion and decreased thermal stability of type III procollagen in a patient with Ehlers-Danlos syndrome type IV

Human mutation, 1997, Vol.9 (1), p.62-63

1997

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Phenotypic Overlap between Familial Aneurysms and Ehlers-Danlos Syndrome Type IV Resulting from a Type III Procollagen Gene Mutation

Annals of the New York Academy of Sciences, 1996-11, Vol.800 (1), p.294-298

1996

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Recurrent COL3A1 mutation results in EDS IV or familial aneurysms

Human mutation, 1997, Vol.9 (5), p.475-475

1997

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Molecular analysis of patients with synostotic frontal plagiocephaly (unilateral coronal synostosis)

Plastic and reconstructive surgery (1963), 2004-06, Vol.113 (7), p.1899-1909

2004

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Equal Stabilities of Normal β Globin and Nontranslatable β°-39 Thalassemic Transcripts in Cell-Free Extracts

Blood, 1987-07, Vol.70 (1), p.293-300

1987

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Aberrant splicing of the type III procollagen mRNA leads to intracellular degradation of the protein in a patient with ehlers-danlos type IV

Human mutation, 1995, Vol.6 (2), p.116-125

1995

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Mammalian Tropoelastin: Multiple Domains of the Protein Define an Evolutionarily Divergent Amino Acid Sequence

Matrix (Stuttgart), 1991-08, Vol.11 (4), p.235-241

1991

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Buffer-exchange column for rapid separation of carcinoembryonic antigen from perchloric acid

Clinical chemistry (Baltimore, Md.), 1978-01, Vol.24 (1), p.135-137

1978

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Nucleotide sequence of a cDNA encoding rat brain carbonic anhydrase II and its deduced amino acid sequence

Gene, 1991-12, Vol.109 (2), p.265-267

1991

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Molecular and genetic characterization of sarcospan : insights into sarcoglycan-sarcospan interactions

Frataxin point mutations in two patients with Friedreich's ataxia and unusual clinical features

Mutations in the human TWIST gene

Expression of gamma -sarcoglycan in smooth muscle and its interaction with the smooth muscle sarcoglycan-sarcospan complex

TWIST gene mutation in a patient with radial aplasia and craniosynostosis: Further evidence for heterogeneity of Baller-Gerold syndrome

Synthesis of an altered type III procollagen in a patient with type IV Ehlers-Danlos syndrome. A structural change in the alpha 1(III) chain which makes the protein more susceptible to proteinases

Expression of multiple Na+,K+-adenosine triphosphatase isoform genes in human hematopoietic cells. Behavior of the novel A3 isoform during induced maturation of HL60 cells

A New Twist: Some Patients with Saethre-Chotzen Syndrome Have a Microdeletion Syndrome

c-myc Gene inactivation during induced maturation of HL-60 cells: transcriptional repression and loss of a specific DNAse I hypersensitive site

A diagnostic approach to identifying submicroscopic 7p21 deletions in Saethre-Chotzen syndrome: Fluorescence in situ hybridization and dosage-sensitive Southern blot analysis

Partial covalent structure of the human alpha 2 type V collagen chain

Multiple Defects in Type III Collagen Synthesis Are Associated with the Pathogenesis of Abdominal Aortic Aneurysms

Cellular factor affecting the stability of β-globin mRNA

Sequence Analysis of the γ-Globin Gene Locus from a Patient with the Deletion Form of Hereditary Persistence of Fetal Hemoglobin

Characterization of the rat carbonic anhydrase II gene structure: sequence analysis of the 5′ flanking region and 3′ UTR

Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III

A glycine (415)-to-serine substitution results in impaired secretion and decreased thermal stability of type III procollagen in a patient with Ehlers-Danlos syndrome type IV

Phenotypic Overlap between Familial Aneurysms and Ehlers-Danlos Syndrome Type IV Resulting from a Type III Procollagen Gene Mutation

Recurrent COL3A1 mutation results in EDS IV or familial aneurysms

Molecular analysis of patients with synostotic frontal plagiocephaly (unilateral coronal synostosis)

Equal Stabilities of Normal β Globin and Nontranslatable β°-39 Thalassemic Transcripts in Cell-Free Extracts

Aberrant splicing of the type III procollagen mRNA leads to intracellular degradation of the protein in a patient with ehlers-danlos type IV

Mammalian Tropoelastin: Multiple Domains of the Protein Define an Evolutionarily Divergent Amino Acid Sequence

Buffer-exchange column for rapid separation of carcinoembryonic antigen from perchloric acid

Nucleotide sequence of a cDNA encoding rat brain carbonic anhydrase II and its deduced amino acid sequence

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