Volume 2; Issue 5

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Human Molecular Genetics
Volume 2; Issue 5

Human Molecular Genetics

Volume 2; Issue 5

1

Steroid 21-hydroxylase deficiency: two additional mutations in salt-wasting disease and rapid screening of disease-causing mutations

Wedell, Anna, Luthman, Holger

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 1.10 MB

english, 1993

2

Chromosomal bar codes produced by multicolor fluorescence in situ hybridization with multiple YAC clones and whole chromosome painting probes

Lengauer, Christoph, Speicher, Michael, Popp, Susanne, Jauch, Anna, Taniwaki, Masafumi, Nagaraja, Ramaiah, Riethman, Harold C., Donis-Keller, Helen, D'Urso, Michele, Schlessinger, David, Cremer, Thoma

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 1.00 MB

english, 1993

3

Rapid detection of the hypertension-associated Met 235 → Thr allele of the human angiotensinogen gene

Russ, Andreas P., Maerz, Winfried, Ruzicka, Viktor, Stein, Ulrike, Groβ, Werner

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 87 KB

english, 1993

4

A single polymorphic STR system in the human phenylalanine hydroxylase gene permits rapid prenatal diagnosis and carrier screening for phenylketonuria

Goltsov, Alexei A., Eisensmith, Randy C., Naughton, Eileen R., Jin, Li, Charkraborty, Ranajit, Woo, Savio L.C.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 460 KB

english, 1993

5

Molecular characterization of cytogenetic alterations associated with the Beckwith — Wiedemann syndrome (BWS) phenotype refines the localization and suggests the gene for BWS is imprinted

Weksberg, R., Teshima, I., Williams, B.R.G., Greenberg, C.R., Pueschel, S.M., Chernos, J.E., Fowlow, S.B., Hoyme, E., Anderson, I.J., Whiteman, D.A.H., Fisher, N., Squire, J.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 3.08 MB

english, 1993

6

Allele-specific MVR-PCR analysis at minisatellite D1S8

Monckton, Darren G., Tamaki, Keiji, MacLeod, Annette, Neil, David L., Jeffreys, Alec J.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 1.42 MB

english, 1993

7

No evidence of genetic heterogeneity in Brazilian facioscapulohumeral muscular dystrophy familes (FSHD) with 4q markers

Passos-Bueno, M.Rita, Wijmenga, Cisca, Takata, Reinaldo E., Marie, Sueli K.N., Vainzof, Mariz, Pavanello, Rita C., Hewitt, Jane E., Bakker, Egbert, Carvalho, Alzira, Akiyama, Jane, Frants, Rune R., Za

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 644 KB

english, 1993

8

Isolation of cosmids and fetal brain cDNAs from the proximal long arm of human chromosome 22

Lamour, Valérie, Lévy, Nicolas, Desmaze, Chantal, Baude, Véronique, Lécluse, Yann, Delattre, Olivier, Bernheim, Alain, Thomas, Gilles, Aurias, Alain, Lipinski, Marc

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 1023 KB

english, 1993

9

The needle found!!! Trinucleotide repeat expansion in the Huntington's disease gene

Willard, Huntington F.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 184 KB

english, 1993

10

Deletions in the prion protein gene are not associated with CJD

Palmer, Mark S., Mahal, Sukhvir P., Campbell, Tracy A., Hill, Andrew F., Sidle, Katie C.L., Laplanche, Jean-Louis, Collinge, John

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 302 KB

english, 1993

11

Dinucleotide repeat polymorphism at the DXS1111 locus

Browne, D.L., McMilin, K.D., Litt, M.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 100 KB

english, 1993

12

Five sequence tagged sites for human chromosome band 11 q23

Perry, H., Cerretti, D.P., Langdon, W.Y., Tunnacliffe, M.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 91 KB

english, 1993

13

Five skeletal myosin heavy chain genes are organized as a multigene complex in the human genome

Soussi-Yanicostas, Nadia, Whalen, Robert G., Petit, Christine

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 1.03 MB

english, 1993

14

Five novel factor IX mutations in unrelated hemophilia B families

Chen, Shi-Han, Schoof, Jon M., Scott, C.Ronald, Thompson, Arthur R.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 108 KB

english, 1993

15

Genomic organization of exons 22 to 25 of the dystrophin gene

Bebchuk, Karen G., Bulman, Dennis E., D'Souza, Vinita N., Worton, Ronald G., Ray, Peter N.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 79 KB

english, 1993

16

Correlation of a Glu/Ala substitution at position 98 with the complement C6 A/B phenotypes

Fernie, B.A., Delbridge, G., Hobart, M.J.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 424 KB

english, 1993

17

X-linked liver glycogenosis: localization and isolation of a candidate gene

Hendrickx, Jan, Coucke, Paul, Bossuyt, Paul, Wauters, Jan, Raeymaekers, Peter, Marchau, Fabienne, Smit, G. Peter A., Stolte, Irene, Sardharwalla, I.B., Berthelot, Jacques, Van den Bergh, Inge, Berger,

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 2.33 MB

english, 1993

18

Dinucleotide repeat polymorphism at the human erythropoietin receptor locus (EPOR) at 19p13

McDonald, M.T., Papenberg, K.A., Glatfelter, A.A., Vander-Stoep, J.L., Marchuk, D.A.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 100 KB

english, 1993

19

Apo-dystrophin-3: a 2.2kb transcript from the DMD locus encoding the dystrophin glycoprotein binding site

Tinsley, Jonathon M., Blake, Derek J., Davies, Kay E.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 739 KB

english, 1993

20

Author index

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 60 KB

english, 1993

21

Quantification of tRNA 3243Leu point mutation of mitochondrial DNA in MELAS patients and its effects on mitochondrial transcription

Suomalainen, Anu, Majander, Anna, Pihko, Helena, Peltonen, Leena, Syvänen, Ann-Christine

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 1.14 MB

english, 1993

22

A 2 base pair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea

Nichols, B.E., Drack, A.V., Vandenburgh, K., Kimura, A.E., Sheffield, V.C., Stone, E.M.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 3.62 MB

english, 1993

23

A highly informative microsatellite repeat polymorphism in intron 1 of the human amyloid precursor protein (APP) gene

Tupler, R., Rogaeva, E., Vaula, G., Mortilla, M., Lukiw, W., Liang, Y., Hancock, R., Rogaev, E., George-Hyslop, P.St

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 53 KB

english, 1993

24

Three dinucleotide repeat polymorphisms on chromosome 9 (D9S200, D9S201, D9S199)

Graw, Sharon L., Kwiatkowski, David J.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 91 KB

english, 1993

25

Dinucleotide repeat polymorphisms from DXS106 and DXS227 YACs using a two stage approach

Fairweather, Nicholas, Chelly, Jamel, Monaco, Anthony P.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 122 KB

english, 1993

26

Dinucleotide repeat polymorphism at Xq26.1 (DXS1114)

Weber, C., Outdet, C., Johnson, S., Pillia, G., Schlessinger, D., Hanauer, A.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 75 KB

english, 1993

27

Dinucleotide repeat polymorphism mapping to the critical region for lissencephaly (17p13.3)

Carrozzo, Romeo, Ledbetter, David H.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 93 KB

english, 1993

28

Linkage analysis of 6p21 polymorphic markers and the hereditary hemochromatosis: localization of the gene centromeric to HLA-F

Gasparini, Paolo, Borgato, Lorena, Piperno, Alberto, Girelli, Domenico, Olivieri, Oliviero, Gottardi, Enrico, Roetto, Antonella, Dianzani, Irma, Fargion, Siliva, Schinaia, Giuseppe, Cappellini, Maria

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 486 KB

english, 1993

29

Dinculeotide repeat polymorphism in the HOX4E locus

Rosen, D.R., Brown, R.H.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 67 KB

english, 1993

30

Dinucleotide repeat polymorphism at the DXS556 locus

Thiselton, D.L., Kamakari, S., Curtis, A.R.J., Coleman, M.P., Davies, K.E., Lindsay, S., Bhattacharya, S.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 85 KB

english, 1993

31

New human DNA polymorphisms submitted to the genome data base

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 469 KB

english, 1993

32

In-frame deletion of von Willebrand factor A domains in a dominant type of von Willebrand disease

Bernardi, F., Patracchini, P., Gemmati, D., Pinotti, M., Schwienbacher, C., Ballerini, G., Marchetti, G.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 533 KB

english, 1993

33

Dinucleotide repeat polymorphism at the D21S370 locus which flanks the PRGS (GARS)-PAIS (AIRS)-PGFT (GART) gene

Goto, J., Gnrike, A., Khodr, N., Kaufer, E., Krizus, A., Figlewicz, D.A., Rouleau, G.A.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 99 KB

english, 1993

34

Frequencies of human keratin 10 alleles

Mischke, Dietmar

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 95 KB

english, 1993

35

Dinucleotide repeat polymorphism at D21S49 (21 q22.3)

Bespalova, I.N., Kiousis, S., Chamberliain, J.S., Burmeister, M.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 85 KB

english, 1993

36

Tetranucleotide repeat polymorphism at the D8S307 locus

Ward, Kenneth, Riley, Robyn, Lu, Jun, Robertson, Margaret, Nelson, Lesa

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 93 KB

english, 1993

37

A new probe detecting HLA-8 gene polymorphism

Alizadeh, M., Semana, G., Fauchet, R.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 67 KB

english, 1993

38

A dinucleotide repeat polymorphism in the gene for the γ subunit of the human Fcε receptors (FLER16)

Brini, Anna T., Schmidt, Laura, Zbar, Berton, Kinet, Jean-Pierre

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 100 KB

english, 1993

39

Dinucleotide (CT)n (CA)n repeat polymorphism for D11S787 on chromosome 11q13.4

Overbeck, Larry D., Weston, Michael D., Kimberling, William J., Evans, Glen A.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 100 KB

english, 1993

40

Dinucleotide repeat polymorphism close to IDS gene in Xq27.3–q28 (DXS1113)

Weber, C., Outdet, C., Johnson, S., Pilia, G., Schlessinger, D., Hanauer, A.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 75 KB

english, 1993

41

An 8 bp deletion in exon 51 of the COL4A5 gene of an Alport syndrome patient

Boye, E., Flinter, F.A., Bobrow, M., Harris, A.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 2.84 MB

english, 1993

42

A complex dinucleotide repeat polymorphism in the human Na + K + ATPass alpha subunit (ATP1A2) gene

Lim, Lionel C.C., Gill, Michael

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 100 KB

english, 1993

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