Volume 1; Issue 2

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Human Molecular Genetics
Volume 1; Issue 2

Human Molecular Genetics

Volume 1; Issue 2

1

A male with two contiguous inactivation centers on a single X chromosome: study of X inactivation and XIST expression

Muscatelli, F., Lena, D., Mettei, M.G., Fontes, M.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 839 KB

english, 1992

2

Characterization of a 4.8kb transcript from the Duchenne muscular dystrophy locus expressed in Schwannoma cells

Blake, Derek J., Love, Donald R., Tinsley, Jonathon, Morris, Glenn E., Turley, Helen, Gatter, Kevin, Dickson, George, Edwards, Yvonne H., Davies, Kay E.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 1.25 MB

english, 1992

3

An optimized Alu -PCR primer pair for human-specific amplification of YACs and somatic cell hybrids

Tagle, Danilo A., Collins, Francis S.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 303 KB

english, 1992

4

Isolation and characterization of 19 dinucleotide repeat polymorphisms on chromosome 3p

Jones, Michael H., Yamakawa, Kazuhiro, Nakamura, Yusuke

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 475 KB

english, 1992

5

An autosomal homologue of the choroideremia gene colocalizes with the usher syndrome type II locus on the distal part of chromosome 1q

Cremers, Frans P.M., Molloy, Catherine M., van de Pol, Dorien J.R., Hurk, José A.J.M.van den, Bach, Irene, Kessel, Ad H.M.Geurts van, Ropers, Hans-Hilger

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 718 KB

english, 1992

6

Author index

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 35 KB

english, 1992

7

A dinucleotide repeat polymorphism at the D4S127 locus

Taylor, S.A.M., Barnes, G.T., MacDonald, M.E., Gusella, J.F.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 80 KB

english, 1992

8

Identification and developmental expression of the Xenopus laevis cystic fibrosis transmembrane conductance regulator gene

Tucker, Stephen J., Tannahill, David, Higgins, Christopher F.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 1.00 MB

english, 1992

9

A new highly polymorphic dinucleotide (CT) n repeat polymorphism D1S158 on chromsome 1q isolated by microdissection

Overbeck, Larry D., Weston, Michael D., Kimberling, William J., Johnson, Daniel H.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 99 KB

english, 1992

10

Dinucleotide repeat polymorphism at the D1S167 locus

Bowcock, Anne, Osborne-Lawrence, Sherri, Barnes, Robert, Weiss, Leslie, Dunn, George

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 107 KB

english, 1992

11

Dinucleotide repeat polymorphism at the D15S11 locus in the Angelman/Prader—Willi region (AS/PWS) of chromosome 15

Mutirangura, A., Kuwano, A., Ledbetter, S.A., Chinault, A.C., Ledbetter, D.H.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 98 KB

english, 1992

12

Dinucleotide repeat in the human mitochondrial D-loop

Bodenteich, Angelika, Mitchell, Lloyd G., Polymeropoulos, Mihael H., Merril, Carl R.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 73 KB

english, 1992

13

A polymorphic dinucleotide repeat in intron 1 of the human tissue plasminogen activator gene

Thomas, W., Drayna, D.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 103 KB

english, 1992

14

De novo mutation in the COL4A5 gene converting glycine 325 to glutamic acid in Alport syndrome

Renieri, Alessandra, Seri, Marco, Myers, Jeanne C., pihlajaniemi, Taina, Massella, Laura, Rizzoni, Gianfranco, Marchi, Mario De

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 423 KB

english, 1992

15

Tetranucleotide repeat polymorphism at the human thyroid peroxidase (hTPO) locus

Anker, R., Steinbrueck, T., Donis-Keller, H.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 207 KB

english, 1992

16

Dinucleotide repeat polymorphism at the human cardiac β-myosin heavy chain gene (HMSYHCO1) locus

Warlick, C.A., Ramachandra, S., Mishra, S., Donis-Keller, H.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 70 KB

english, 1992

17

Two chromosome 7 dinucleotide repeat polymorphisms at gene loci epidermal growth factor receptor (EGFR) and proα2 (1) collagen (COL1A2)

Chi, D.D., Hing, A.V., Helms, C., Steinbrueck, T., Mishra, Santosh K., Donis-Keller, Helen

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 91 KB

english, 1992

18

Dinucleotide repeat polymorphism at the hormone sensitive lipase (LIPE) locus

Levitt, R.C., Jedlicka, A.E., Nouri, N.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 98 KB

english, 1992

19

A polymorphic dinucleotide repeat in intron 2 of the human cystatin-C gene

Hughes, D., Brown, J., Hardy, J., Chartier-Harlin, M. C.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 49 KB

english, 1992

20

Isolation and characterization of a novel gene with differential expression in benign and malignant human breast tumours

Adams, S.M., Helps, N.R., Sharp, M.G.F., Brammar, W.J., Walker, R.A., Varley, J.M.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 955 KB

english, 1992

21

A new missense mutation (R1283M) in exon 20 of the cystic fibrosis transmembrane conductance regulator gene

Cheadle, Jeremy P., Meredith, Alison L., Al-Jader, Layla N.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 651 KB

english, 1992

22

Probe D16S273 detects a Pst l RFLP with 8 alleles

Lerner, T., Wright, G., Landes, G.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 76 KB

english, 1992

23

A series of hypervariable minisatellites at the D7S464 locus

Giannakudis, I., Gudenberg, K.Wolf Von, Heid, C., Grzeschik, K.H.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 69 KB

english, 1992

24

The gene encoding the palmitoylated erythrocyte membrane protein, p55, originates at the CpG island 3′ to the factor VIII gene

Metzenberg, Aïda B., Gitschier, Jane

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 966 KB

english, 1992

25

Dinucleotide repeat polymorphism for the hexabrachion gene (HXB) on chromosome 9q32–34

Ozelius, L., Schuback, D.E., Stefansson, K., Slaugenhaupt, S., Gusella, J.F., Breakefield, X.O.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 95 KB

english, 1992

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