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Results of search for 'au:"Cohn, D H"', page 1 of 5
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Authors
Ahmad, M
Ahmad, W
Bogaert, R
Bonadio, J F
Briggs, M D
Byers, P H
Cohn, D H
Eyre, D R
Francomano, C A
King, L M
Knowlton, R G
Krakow, D
Lachman, R S
Rimoin, D L
Superti-Furga, A
Tiller, G E
Wenstrup, R J
Wilcox, W R
Wilkin, D J
Willing, M C
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Adult
Alleles
Amino Acid Sequence
Base Sequence
Cartilage
Collagen
Female
Humans
Infant, Newborn
Male
Molecular Sequence Data
Mutation
Osteochondrodysplasias
Osteogenesis Imperfecta
Pedigree
Point Mutation
Polymerase Chain Reaction
chemistry
genetics
metabolism
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English
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1.
Mutations affecting multiple functional domains of FGFR3 cause different skeletal dysplasias: a personal retrospective in honor of John Wasmuth.
[electronic resource]
by
Cohn, D H
Producer:
19960903
In:
Annals of the New York Academy of Sciences
vol. 785
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2.
Defects in extracellular matrix structural proteins in the osteochondrodysplasias.
[electronic resource]
by
Cohn, D H
Producer:
20010628
In:
Novartis Foundation symposium
vol. 232
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3.
Dinucleotide insertion/deletion polymorphism in intron 50 of the COL2A1 gene.
[electronic resource]
by
Tiller, G E
Cohn, D H
Producer:
19910918
In:
Nucleic acids research
vol. 19
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4.
Length polymorphism within a complex dinucleotide repeat in the human decorin (DCN) gene.
[electronic resource]
by
Briggs, M D
Cohn, D H
Producer:
19931004
In:
Human molecular genetics
vol. 2
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5.
Cysteine in the triple helical domain of the pro alpha 2(I) chain of type-I collagen in nonlethal forms of osteogenesis imperfecta.
[electronic resource]
by
Cohn, D H
Byers, P H
Producer:
19910813
In:
Human genetics
vol. 87
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6.
Clinical screening for collagen defects in connective tissue diseases.
[electronic resource]
by
Cohn, D H
Byers, P H
Producer:
19910326
In:
Clinics in perinatology
vol. 17
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7.
Osteogenesis imperfecta and other inherited disorders of the structure and synthesis of type I collagen: models for the analysis of mutations that result in inherited chondrodysplasias.
[electronic resource]
by
Cohn, D H
Byers, P H
Producer:
19890316
In:
Pathology and immunopathology research
vol. 7
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8.
Luciferase genes cloned from the unculturable luminous bacteroid symbiont of the Caribbean flashlight fish, Kryptophanaron alfredi.
[electronic resource]
by
Haygood, M G
Cohn, D H
Producer:
19870320
In:
Gene
vol. 45
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9.
Clinical--molecular correlations in the skeletal dysplasias.
[electronic resource]
by
Rimoin, D L
Cohn, D H
Eyre, D
Producer:
19950503
In:
Pediatric radiology
vol. 24
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10.
Homology-mediated recombination between type I collagen gene exons results in an internal tandem duplication and lethal osteogenesis imperfecta.
[electronic resource]
by
Cohn, D H
Zhang, X
Byers, P H
Producer:
19930521
In:
Human mutation
vol. 2
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11.
Clinical, morphological, and biochemical phenotype of a new case of Ehlers-Danlos syndrome type VIIC.
[electronic resource]
by
Fujimoto, A
Wilcox, W R
Cohn, D H
Producer:
19970318
In:
American journal of medical genetics
vol. 68
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12.
Bacterial origin of luminescence in marine animals.
[electronic resource]
by
Leisman, G
Cohn, D H
Nealson, K H
Producer:
20100702
In:
Science (New York, N.Y.)
vol. 208
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13.
Frameshift mutation near the 3' end of the COL1A1 gene of type I collagen predicts an elongated Pro alpha 1(I) chain and results in osteogenesis imperfecta type I.
[electronic resource]
by
Willing, M C
Cohn, D H
Byers, P H
Producer:
19900214
In:
The Journal of clinical investigation
vol. 85
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14.
Heteroduplex analysis can increase the informativeness of PCR-amplified VNTR markers: application using a marker tightly linked to the COL2A1 gene.
[electronic resource]
by
Wilkin, D J
Koprivnikar, K E
Cohn, D H
Producer:
19930414
In:
Genomics
vol. 15
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15.
Identification of human FEM1A, the ortholog of a C. elegans sex-differentiation gene.
[electronic resource]
by
Krakow, D
Sebald, E
King, L M
Cohn, D H
Producer:
20020122
In:
Gene
vol. 279
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16.
Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1).
[electronic resource]
by
Cohn, D H
Starman, B J
Blumberg, B
Byers, P H
Producer:
19900404
In:
American journal of human genetics
vol. 46
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17.
Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro alpha 1(I) collagen allele.
[electronic resource]
by
Cohn, D H
Byers, P H
Steinmann, B
Gelinas, R E
Producer:
19860925
In:
Proceedings of the National Academy of Sciences of the United States of America
vol. 83
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18.
Arginine for glycine substitution in the triple-helical domain of the products of one alpha 2(I) collagen allele (COL1A2) produces the osteogenesis imperfecta type IV phenotype.
[electronic resource]
by
Wenstrup, R J
Cohn, D H
Cohen, T
Byers, P H
Producer:
19880629
In:
The Journal of biological chemistry
vol. 263
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19.
Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia.
[electronic resource]
by
Tiller, G E
Rimoin, D L
Murray, L W
Cohn, D H
Producer:
19900621
In:
Proceedings of the National Academy of Sciences of the United States of America
vol. 87
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20.
Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a mutation in the COL1A2 gene of type I collagen. The mosaic parent exhibits phenotypic features of a mild form of the disease.
[electronic resource]
by
Edwards, M J
Wenstrup, R J
Byers, P H
Cohn, D H
Producer:
19930528
In:
Human mutation
vol. 1
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