Volume 1; Issue 7

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Human Molecular Genetics
Volume 1; Issue 7

Human Molecular Genetics

Volume 1; Issue 7

1

Unstable DNA may be responsible for the incomplete penetrance of the myotonic dystrophy phenotype

Shelbourne, Peggy, Winqvist, Robert, Kunert, Erich, Davies, June, Leisti, Jaakko, Thiele, Hannelore, Bachmann, Hans, Buxton, Jessica, Williamson, Bob, Johnson, Keith

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 4.70 MB

english, 1992

2

Expression of four alternative dystrophin transcripts in brain regions regulated by different promoters

Górecki, Dariusz C., Monaco, Anthony P., Derry, Jonathan M. J., Walker, Ann P., Barnard, Eric A., Barnard, Pene J.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 2.79 MB

english, 1992

3

An Eco RI RFLP at the human insulin-like growth factor binding protein 2 gene (IGFBP2)

Ehrenborg, Ewa, Larsson, Catharina

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 94 KB

english, 1992

4

Oligonucleotide probes for the analysis of specific repetitive DNA sequences by fluorescence in situ hybridization

Matera, A. Gregory, Ward, David C.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 1.52 MB

english, 1992

5

Autosomal dominant branchio-oto-renal syndrome—localization of a disease gene to chromosome 8q by linkage in a Dutch family

Kumar, Shrawan, Kimberling, William J., Kenyon, Judy B., Smith, Richard J. H., Marres, Henri A. M., Cremers, Cor W. R. J.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 990 KB

english, 1992

6

Detection of a nonsense mutation in the dystrophin gene by multiple SSCP

Nigro, Vincenzo, Politano, Luisa, Nigro, Giovanni, Romano, Sergio Colonna, Molinari, Anna Maria, Puca, Giovanni Alfredo

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 1.48 MB

english, 1992

7

Dinucleotide repeat polymorphism in the human thyroid hormone receptor α gene (THRA1) on chromosome 17

Sakurai, A., Bell, G.I., DeGroot, L.J.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 1.43 MB

english, 1992

8

Genomic organization of a cDNA (QM) demonstrating an altered mRNA level in nontumorigenic Wilms' microcell hybrid cells and its localization to Xq28

Kaneko, Kiyotoshi, Kobayashi, Hisashi, Onodera, Osamu, Miyatake, Tadashi, Tsuji, Shoji

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 2.78 MB

english, 1992

9

Erratum

Tamaki, K., Monckton, D.G., MacLeod, A., Neil, D.L., Allen, M., Jeffreys, A.J.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 59 KB

english, 1992

10

The genomic structure of the human skeletal muscle sodium channel gene

I.McClatchey, Andrea, S.Lin, Carol, Wang, Jianzhou, P.Hoffman, Eric, Rojas, Cecilia, F.Gusella, James

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 712 KB

english, 1992

11

Mismatch PCR: a rapid method to screen for the Pro 207 → Leu mutation in the lipoprotein lipase (LPL) gene

M.Bijvoet, Saskia, R.Hayden, Michael

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 64 KB

english, 1992

12

Segregation of the fragile X mutation from an affected male to his normal daughter

Willems, Patrick J., Roy, Bernadette Van, De Boulle, Kristel, Vits, Lieve, Reyniers, Edwin, Beck, Olivia, Dumon, Jan E., Verkerk, Annemieke, Oostra, Ben

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 2.07 MB

english, 1992

13

The large non-collagenous domain (NC-1) of type VII collagen is amino-terminal and chimeric. Homology to cartilage matrix protein, the type III domains of fibronectin and the A domains of von Willebrand factor

Christiano, Angela M., Rosenbaum, Louise M., Chung-Honet, Linda C., Parente, M. Gabriela, Woodley, David T., Pan, Te-Cheng, Zhang, Rui Zhu, Chu, Mon-Li, Burgeson, Robert E., Uitto, Jouni

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 687 KB

english, 1992

14

Mutations in the candidate gene for Norrie disease

Berger, Wolfgang, de Pol, Dorien van, Warburg, Mette, Gal, Andreas, Bleeker-Wagemakers, Liesbeth, de Silva, Harendra, Meindl, Alfons, Meitinger, Thomas, Cremers, Frans, Ropers, Hans-Hilger

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 4.28 MB

english, 1992

15

Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome

Batch, J. A., Williams, D. M., Davies, H. R., Brown, B. D., Evans, B. A. J., Hughes, I. A., Patterson, M. N.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 5.24 MB

english, 1992

16

Dinucleotide repeat polymorphism between the human C4BPA and C4BPB gene loci (1q32)

Velasco, Eladio, Sanchez-Corral, Pilar, Moreno, Felipe, de Cordoba, Santiago Rodriguez

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 94 KB

english, 1992

17

An Sph l polymorphism at the vinculin locus (VCL)

Mulligan, L.M., Gardner, E., Ponder, B.A.J.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 1.44 MB

english, 1992

18

Author index

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 40 KB

english, 1992

19

A new VNTR-type RFLP probe (λTM-18) on chromosome 1 (D1S157)

Honma, Masamitsu, Mitani, Khonosuke, Mizusawa, Hiroshi, Sofuni, Toshio, Muramatsu, Masami, Kominami, Ryo

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 86 KB

english, 1992

20

CFTR nonsense mutations G542X and W1282X associated with severe reduction of CFTR mRNA in nasal epithelial cells

Hamosh, Ada, Rosenstein, Beryl J., Cutting, Garry R.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 2.64 MB

english, 1992

21

A new VNTR-type RELP probe (ChdTC-15) on chromosome 12 (D12S65)

Honma, Masamitsu, Mitani, Khonosuke, Mizusawa, Hiroshi, Sofuni, Toshio, Muramatsu, Masami, Kominami, Ryo

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 51 KB

english, 1992

22

Cystic fibrosis mice have arrived!

Higgins, Christopher F., Trezise, Ann E. O.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 220 KB

english, 1992

23

Dinucleotide repeat polymorphisms at the D11S439 and HBB loci

Hauge, X. Y., Litt, R., Litt, M.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 81 KB

english, 1992

24

Dinucleotide repeat polymorphisms (D21S223 and D21S224) at 21q22.1

Rosen, D.R., Sapp, P.C., O'Regan, J., Horvitz, H.R., Donaldson, D.H., Nussbaum, C., Gusella, J.F., Haines, J.L., Pestka, S., Jung, V., Patterson, D., Brown, R.H.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 85 KB

english, 1992

25

Dinucleotide repeat polymorphism at the D18S19 locus

W.Bare, John, Rothman, AIana, Epstein, Ervin

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 1.43 MB

english, 1992

26

A chromosome 19 CA-dinucleotide repeat polymorphism

Phillips, K.L., Garbutt, J.H., Roses, A.D., Lee, J.E.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 76 KB

english, 1992

27

Dinucleotide repeat polymorphism at the D9SI47E locus

Polymeropoulos, Mihael H., Xiao, Hong, Merril, Carl R.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 79 KB

english, 1992

28

Taq l polymorphisms at the annexin VIII locus (ANX8)

Chambers, J.A., Gardner, E., Hauptmann, R., Ponder, B.A.J., Mulligan, L.M.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 1.44 MB

english, 1992

29

An Sph l polymorphism at the ZNF22 locus

Mulligan, L.M., Gardner, E., Ponder, B.A.J.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 75 KB

english, 1992

30

Characterization of a 1.0 Mb YAC contig spannning two chromosome breakpoints related to Menkes disease

Tümer, Zeynep, Chelly, Jamel, Tommerup, Niels, Ishikawa-Brush, Yumiko, Tønnesen, Tønne, Monaco, Anthony P., Horn, Nina

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 3.85 MB

english, 1992

31

A new VNTR-type RFLP probe (ChdTC-114) on chromosome 20p (D20S72)

Honma, Masamitsu, Mitani, Khonosuke, Mizusawa, Hiroshi, Sofuni, Toshio, Muramatsu, Masami, Kominami, Ryo

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 86 KB

english, 1992

32

Dinucleotide repeat polymorphism at the D7S476 locus

Xiao, Hong, Merril, Carl R., Polymeropoulos, Mihael H.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 80 KB

english, 1992

33

A novel frame-shift mutation in exon 4 of the cystic fibrosis gene (435insA) demonstrates the ambiguity of restriction analysis for mutation screening

Kälin, Nanette, Dörk, Thilo, Bozon, Dominique, Tümmler, Burkhard

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 595 KB

english, 1992