Search Results - "LOVRIEN, E"
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1
Autosomal Dominant Congenital Cataract Associated with a Missense Mutation in the Human Alpha Crystallin Gene CRYAA
Published in Human molecular genetics (01-03-1998)“…Congenital cataracts are a common major abnormality of the eye that frequently cause blindness in infants. At least a third of all cases are familial;…”
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2
1-Anilino-8-naphthalene sulfonate as a protein conformational tightening agent
Published in Biopolymers (01-05-1999)“…1‐Anilino‐8‐naphthalene sulfonate (ANS) anion is conventionally considered to bind to preexisting hydrophobic (nonpolar) surfaces of proteins, primarily…”
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3
Glycophorin is linked by band 4.1 protein to the human erythrocyte membrane skeleton
Published in Nature (London) (01-02-1984)“…The cytoskeleton underlying the membrane of erythrocytes is thought to control changes in cell shape such as the diskocyte to the echinocyte. Since the binding…”
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4
Acquired Immunodeficiency Syndrome-Associated Non-Hodgkin’s Lymphomas and Other Malignancies in Patients With Hemophilia
Published in Blood (01-04-1993)“…Kingsley Non-Hodgkin’s lymphoma (NHL) is the most common human immunodeficiency virus (HIV)-associated malignancy in hemophiliacs. We studied the incidence and…”
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5
Complexes of Lysine, Histidine, and Arginine with Sulfonated Azo Dyes: Model Systems for Understanding the Biomolecular Recognition of Glycosaminoglycans by Proteins
Published in Journal of the American Chemical Society (06-03-1996)“…The X-ray crystal structures of six salts composed of amino acids and sulfonated azo dyes have been determined, four of them at low temperature (173 K). The…”
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6
Selective precipitation of proteins
Published in Current protocols in protein science (01-05-2001)“…Selective precipitation of proteins can be used as a bulk method to recover the majority of proteins from a crude lysate, as a selective method to fractionate…”
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7
Structural and Functional Basis of the Developmental Regulation of Human Coagulation Factor IX gene: Factor IX Leyden
Published in Proceedings of the National Academy of Sciences - PNAS (01-06-1990)“…Hemophilia B Leyden is characterized by unusual developmental regulation of factor IX synthesis in affected individuals. One family affected with the…”
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8
CG dinucleotide transitions in the factor IX gene account for about half of the point mutations in hemophilia B patients : a Seattle series
Published in Human genetics (01-06-1991)“…Hemophilia B is due to multiple molecular defects in the factor IX gene. Over 80% of mutations are single base substitutions. By amplification and direct…”
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9
A time-dependent, two-step binding mode of the nitro dye flavianic acid to trypsin in acid media
Published in Brazilian journal of medical and biological research (01-08-2001)“…Synthetic dyes bind to proteins causing selective coprecipitation of the complexes in acid aqueous solution by a process of reversible denaturation that can be…”
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10
Familial Cutaneous Malignant Melanoma: Autosomal Dominant Trait Possibly Linked to the Rh Locus
Published in Proceedings of the National Academy of Sciences - PNAS (01-10-1983)“…Segregation and linkage analyses were undertaken in families with multiple cases of cutaneous malignant melanoma (CMM) and a recently-described melanoma…”
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11
Human chromosome variation: the discriminatory power of Q-band heteromorphism (variant) analysis in distinguishing between individuals, with specific application to cases of questionable paternity
Published in American journal of human genetics (01-02-1986)“…The chromosomes from 57 persons were analyzed by means of quinacrine fluorescent staining in order to assess the amount of variation and the discriminatory…”
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12
Linkage analysis in dominant optic atrophy
Published in American journal of human genetics (01-11-1983)“…A kindred of German descent was studied for dominant optic atrophy, type Kjer (McKusick catalog no. 16540). One hundred twenty-three family members were…”
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13
Calorimetric versus Growth Microbial Analysis of Cellulase Enzymes Acting on Cellulose
Published in Applied and Environmental Microbiology (01-12-1987)“…Classifications Services AEM Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley Reddit…”
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14
Diffuse capillary hemangiomas associated with skeletal hypotrophy
Published in Journal of pediatric orthopaedics (01-05-1992)“…A syndrome of capillary hemangiomas of the lower limbs associated with decreased circumference and length of the limb is reported. Hypotrophy of the limb in…”
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15
Colloidal Gold Cytochemistry of Endo-1,4-β-Glucanase, 1,4-β-D-Glucan Cellobiohydrolase, and Endo-1,4-β-Xylanase: Ultrastructure of Sound and Decayed Birch Wood
Published in Applied and Environmental Microbiology (01-09-1989)“…Classifications Services AEM Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley Reddit…”
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16
Factor IXPortland: a nonsense mutation (CGA to TGA) resulting in hemophilia B
Published in American journal of human genetics (01-04-1989)“…Male siblings with severe hemophilia b were studied for the molecular defect responsible for their disorder. To define the precise DNA alteration, a 362-bp…”
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17
Management of fractures in hemophilia
Published in Pediatrics (Evanston) (01-09-1982)“…Nine patients with hemophilia A suffered 16 fractures. Four patients had severe hemophilia (factor VIII less than 1%) and five had moderate or mild hemophilia…”
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18
Translocation(X;Y)(p22.33;p11.2) in XX males: etiology of male phenotype
Published in Human genetics (01-01-1982)“…Analysis of G-banded prometaphase chromosomes from three XX males revealed extra bands on the distal end of one X short arm. These bands were similar both in…”
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19
Chorioangioma of the placenta and intrauterine growth failure
Published in The Journal of pediatrics (01-12-1978)Get more information
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20
Dyschondrosteosis and Madelung's deformity. Report of three kindreds and review of the literature
Published in Clinical orthopaedics and related research (01-05-1976)“…Dyschondrosteosis is a syndrome of Madelung's deformity, mesomelia and mild short stature that is transmitted by autosomal dominant inheritance. Most examples…”
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