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Refinado por: Base de dados/Biblioteca: Academic OneFile remover Nome da Publicação: Human Genetics remover
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1
Supravalvular aortic stenosis : genetic and molecular dissection of a complex mutation in the elastin gene
Supravalvular aortic stenosis : genetic and molecular dissection of a complex mutation in the elastin gene
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Supravalvular aortic stenosis : genetic and molecular dissection of a complex mutation in the elastin gene

URBAN, Zsolt ; JUN ZHANG ; DAVIS, Elaine C ; MAEDA, Gregg K ; KUMAR, Anil ; STALKER, Heather ; BELMONT, John W ; BOYD, Charles D ; WALLACE, Margaret R

Human genetics, 2001-11, Vol.109 (5), p.512-520 [Periódico revisado por pares]

Heidelberg: Springer

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2
Evidence for a founder effect for pseudoxanthoma elasticum in the Afrikaner population of South Africa
Evidence for a founder effect for pseudoxanthoma elasticum in the Afrikaner population of South Africa
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Evidence for a founder effect for pseudoxanthoma elasticum in the Afrikaner population of South Africa

LE SAUX, Olivier ; BECK, Konstanze ; VILJOEN, Denis L ; BOYD, Charles D ; SACHSINGER, Christine ; TREIBER, Carina ; GÖRING, Harald H. H ; CURRY, Katie ; JOHNSON, Eric W ; BERCOVITCH, Lionel ; MARAIS, Anna-Susan ; TERRY, Sharon F

Human genetics, 2002-10, Vol.111 (4-5), p.331-338 [Periódico revisado por pares]

Heidelberg: Springer

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3
Supravalvular aortic stenosis : a splice site mutation within the elastin gene results in reduced expression of two aberrantly spliced transcripts
Supravalvular aortic stenosis : a splice site mutation within the elastin gene results in reduced expression of two aberrantly spliced transcripts
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Supravalvular aortic stenosis : a splice site mutation within the elastin gene results in reduced expression of two aberrantly spliced transcripts

URBAN, Z ; MICHELS, V. V ; THIBODEAU, S. N ; DONIS-KELLER, H ; CSISZAR, K ; BOYD, C. D

Human genetics, 1999-02, Vol.104 (2), p.135-142 [Periódico revisado por pares]

Heidelberg: Springer

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4
Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay
Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay
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Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay

Urban, Z ; Michels, V V ; Thibodeau, S N ; Davis, E C ; Bonnefont, J-P ; Munnich, A ; Eyskens, B ; Gewillig, M ; Devriendt, K ; Boyd, C D

Human genetics, 2000-06, Vol.106 (6), p.577-588 [Periódico revisado por pares]

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5
The human lysyl oxidase-like gene maps between STS markers D15S215 and GHLC.GCT7C09 on chromosome 15
The human lysyl oxidase-like gene maps between STS markers D15S215 and GHLC.GCT7C09 on chromosome 15
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The human lysyl oxidase-like gene maps between STS markers D15S215 and GHLC.GCT7C09 on chromosome 15

SZABO, Z ; LIGHT, E ; BOYD, C. D ; CSISZAR, K

Human genetics, 1997-12, Vol.101 (2), p.198-200 [Periódico revisado por pares]

Heidelberg: Springer

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6
Isolated supravalvular aortic stenosis : functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay
Isolated supravalvular aortic stenosis : functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay
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Isolated supravalvular aortic stenosis : functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay

URBAN, Z ; MICHELS, V. V ; THIBODEAU, S. N ; DAVIS, E. C ; BONNEFONT, J.-P ; MUNNICH, A ; EYSKENS, B ; GEWILLIG, M ; DEVRIENDT, K ; BOYD, C. D

Human genetics, 2000-06, Vol.106 (6), p.577-588 [Periódico revisado por pares]

Heidelberg: Springer

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7
The single copy gene coding for human ?1 (IV) procollagen is located at the terminal end of the long arm of chromosome 13
The single copy gene coding for human ?1 (IV) procollagen is located at the terminal end of the long arm of chromosome 13
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The single copy gene coding for human ?1 (IV) procollagen is located at the terminal end of the long arm of chromosome 13

Boyd, C. D. ; Weliky, Karen ; Toth-Fejel, SuEllen ; Deak, Susan B. ; Christiano, Angela M. ; Mackenzie, J. W. ; Sandell, Linda J. ; Tryggvason, K. ; Magenis, Ellen

Human genetics, 1986-10, Vol.74 (2), p.121-125 [Periódico revisado por pares]

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8
The single copy gene coding for human α1 (IV) procollagen is located at the terminal end of the long arm of chromosome 13
The single copy gene coding for human α1 (IV) procollagen is located at the terminal end of the long arm of chromosome 13
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The single copy gene coding for human α1 (IV) procollagen is located at the terminal end of the long arm of chromosome 13

BOYD, C. D ; WELIKY, K ; TOTH-FEJEL, S ; DEAK, S. B ; CHRISTIANO, A. M ; MACKENZIE, J. W ; SANDELL, L. J ; TRYGGVASON, K ; MAGENIS, E

Human genetics, 1986-10, Vol.74 (2), p.121-125 [Periódico revisado por pares]

Heidelberg: Springer

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9
The single copy gene coding for human alpha 1 (IV) procollagen is located at the terminal end of the long arm of chromosome 13
The single copy gene coding for human alpha 1 (IV) procollagen is located at the terminal end of the long arm of chromosome 13
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The single copy gene coding for human alpha 1 (IV) procollagen is located at the terminal end of the long arm of chromosome 13

Boyd, C D ; Weliky, K ; Toth-Fejel, S ; Deak, S B ; Christiano, A M ; Mackenzie, J W ; Sandell, L J ; Tryggvason, K ; Magenis, E

Human genetics, 1986-10, Vol.74 (2), p.121-125 [Periódico revisado por pares]

Germany

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10
Human ferritin H and L sequences lie on ten different chromosomes
Human ferritin H and L sequences lie on ten different chromosomes
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Human ferritin H and L sequences lie on ten different chromosomes

MCGILL, J. R ; NAYLOR, S. L ; SAKAGUCHI, A. Y ; MOORE, C. M ; BOYD, D ; BARRETT, K. J ; SHOWS, T. B ; DRYSDALE, J. W

Human genetics, 1987-05, Vol.76 (1), p.66-72 [Periódico revisado por pares]

Heidelberg: Springer

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