Volume 2; Issue 8

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Human Molecular Genetics
Volume 2; Issue 8

Human Molecular Genetics

Volume 2; Issue 8

1

Three polymorphic dinucleotide repeats near the von Hippel Lindau (VHL) disease gene on human chromosome 3:D3S587; D3S1317; D3S1435

Wei, Ming-Hui, Latif, Farida, Stackhouse, Thomas, Lerman, Michael I., Zbar, Berton, Tory, Kalman, Li, Hua, Schmidt, Laura, Duh, Fuh-Mei C.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 66 KB

english, 1993

2

Digital DNA typing at a second hypervariable locus by minisatellite variant repeat mapping

Nell, David L., Jeffreys, Alec J.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 4.26 MB

english, 1993

3

Fine structure of the human FMR1 gene

Eichler, Evan E., Richards, Stephen, Gibbs, Richard A., Nelson, David L.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 3.75 MB

english, 1993

4

Generation of band-specific painting probes from a single microdissected chromosome

Guan, X.-Y., Trent, Jeffrey M., Meltzer, Paul S.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 2.85 MB

english, 1993

5

Molecular basis of defective anion transport in L cells expressing recombinant forms of CFTR

Yang, Yiping, Devor, Daniel C., Engelhardt, John F., Ernst, Stephen A., Strong, Theresa V., Collins, Francis S., Cohn, Jonathan A., Frizzell, Raymond A., Wilson, James M.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 6.74 MB

english, 1993

6

Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in Southern France

Claustres, Mireille, Laussel, Maguelone, Desgeorges, Marie, Giansily, Muriel, Culard, Jean-Françols, Razakatsara, Gaby, Demaille, Jacques

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 4.03 MB

english, 1993

7

Detection of aneuploidy and chromosomal mosaicism in human embryos during preimplantation sex determination by fluorescent in situ hybridisation, (FISH)

Delhanty, Joy D.A., Griffin, Darren K., Handyside, Alan H., Harper, Joyce, Atkinson, Glenn H.G., Pieters, Math H.E.C., Winston, Robert M.L.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 279 KB

english, 1993

8

A mutation in the 3' untranslated region of the factor IX gene in four families with hemophilia B

Vielhaber, Erica, Jacobson, David P., Ketterling, Rhett P., Liu, Jing-Zhong, Sommer, Steve S.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 810 KB

english, 1993

9

The interleukin-2 receptor γ chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1

Puck, Jennifer M., Deschenes, Suzanne M., Porter, Joanne C., Dutra, Amalla S., Brown, Carolyn J., Willard, Huntington F., Henthorn, Paula S.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 7.07 MB

english, 1993

10

The major centromeric array of alphoid satellite DNA on the human Y chromosome is non-palindromic

Cooper, Katrina F., Fisher, Richard B., Tyler-Smith, Chris

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 1.18 MB

english, 1993

11

Six additional mutations in fucosidosis: three nonsense mutations and three frameshift mutations

Seo, Hee-Chan, Willems, Patrick J., O'Brien, John S.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 3.17 MB

english, 1993

12

Acute intermittent porphyria caused by an arginine to histidine substitution (R26H) in the cofactor-binding cleft of porphobilinogen deaminase

Llewellyn, D.H., Whatley, S., Elder, G.H.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 1020 KB

english, 1993

13

A Null mutation in the vasopressin V2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus in the Hopewell kindred

Holtzman, Eliezer J., Kolakowskl, Lee F., O'Brien, David, Crawford, John D., Ausiello, Dennis A.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 3.16 MB

english, 1993

14

Three tetranucleotide polymorphisms for loci: D3S1352; D3S1358; D3S1359

Li, Hua, Schmidt, Laura, Wei, Ming-Hui, Hustad, Thomas, Lerman, Michael I., Zbar, Berton, Tory, Kalman

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 68 KB

english, 1993

15

A triplet repeat polymorphism in a gene expressed in human hypothalamus

Phillips, K.L., Gartrell, D.M., Roses, A.D., Lee, J.E.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 99 KB

english, 1993

16

Alternative splicing in the fragile X gene FMR1

Verkerk, A.J.M.H., de Graaff, E., De Boulle, K., Eichler, E.E., Konecki, D.S., Reyniers, E., Manca, A., Poustka, A., Willems, P.J., Nelson, D.L., Oostra, B.A.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 1.05 MB

english, 1993

17

McArdle's disease: a nonsense mutation in exon 1 of the muscle glycogen phosphorylase gene explains some but not all cases

Bartram, Clare, Edwards, Richard H.T., Clague, John, Beynon, Robert J.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 1.16 MB

english, 1993

18

Characterization of translational frame exception patients in Duchenne/Becker muscular dystrophy

Winnard, A.V., Klein, C.J., Coovert, D.D., Prior, T., Papp, A., Snyder, P., Bulman, D.E., Ray, P.N., McAndrew, P., King, W., Moxley, R.T., Mendell, J.R.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 1.05 MB

english, 1993

19

Myotonic dystrophy: absence of CTG enlarged transcript in congenital forms, and low expression of the normal allele

Hofmann-Radvanyi, Hélène, Lavedan, Christian, Rabès, Jean-Pierre, Savoy, Daniel, Duros, Chantal, Johnson, Keith, Junien, Claudine

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 3.97 MB

english, 1993

20

Preimplantation prevention of X-linked disease: reliable and rapid sex determination of single human cells by restriction analysis of simultaneously amplified ZFX and ZFY sequences

Chong, Samuel S., Kristjansson, Kristlelfur, Cota, Juan, Handyslde, Alan H., Hughes, Mark R.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 3.48 MB

english, 1993

21

Repeat polymorphisms in human fibrillin genes on chromosome 15 (FBN1) and chromosome 5 (FBN2)

Biddinger, A.L., Hecht, J.T., Milewicz, D.M.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 248 KB

english, 1993

22

Mutation of human short tandem repeats

Weber, James L., Wong, Carmen

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 1.95 MB

english, 1993

23

A 2 base bair 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, 1.05 MB

english, 1993

24

Dinucleotide repeat polymorphism at the D10S469 locus

Decker, Ruth A., Collins, Francis S.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 86 KB

english, 1993

25

A Banll RFLP in the ZNF34 zinc finger gene on chromosome 8

Pillo, Biagio La, Lüdecke, Hermann-Josef, Thiesen, Hans-Jürgen, Horsthemke, Bernhard

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 1.58 MB

english, 1993

26

Two novel mutations causing mucopolysaccharidosis type I detected by single strand conformational analysis of the α-L-iduronidase gene

Clarke, Lorne A., Scott, Hamish S.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 1.52 MB

english, 1993

27

Identification of a 31-bp insertion (3860ins31) in exon 20 of the cysticfibrosis ( CFTR ) gene

Chillón, Miguel, Casals, Teresa, Nunes, Virginia, Giménez, Javier, Estivill, Xavier

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 985 KB

english, 1993

28

A contig of non-chimaeric YACs containing the spinal muscular atrophy gene in 5q13

Francis, Michael J., Morrison, Karen E., Campbell, Louise, Grewal, Prabhjit K., Christodoulou, Zóe, Daniels, Rachael J., Monaco, Anthony P., Frischauf, Anne-Marie, McPherson, John, Wasmuth, John, Davi

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 3.86 MB

english, 1993

29

A missense mutation in exon 4 of the human adenosine deaminase gene causes severe combined immunodeficiency

Atasoy, Ulus, Norby-Slycord, Colette J., Markert, M.Louise

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 1.70 MB

english, 1993

30

An RT-PCR-SSCP screening strategy for detection of mutations in the gene encoding the α1 chain of type I collagen: application to four patients with osteogenesis imperfecta

Mackay, Katrina, Byers, Peter H., Dalglelsh, Raymond

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 3.39 MB

english, 1993

31

No imprinting involved in the expression of DM-kinase m RNAs in mouse and human tissues

Jansen, Gert, Bartolomel, Marisa, Kalscheuer, Vera, Merkx, Gerard, Wormskamp, Nicole, Mariman, Edwin, Smeets, Dominique, Ropers, Hans-Hilger, Wleringa, Bé

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 5.17 MB

english, 1993

32

Severe splice site mutation preceding exon 9 of the CFTR gene

Dörk, Thilo, Fislage, Rainer, Rappen, Ulrich, Tümmler, Burkhard

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 634 KB

english, 1993

33

The high frequency of TTR M 30 in familial amyloidotic polyneuropathy is not due to a founder effect

lI, Setsuko, Sommer, Steve S.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 295 KB

english, 1993

34

High resolution physical map of the region surrounding the spinal muscular atrophy gene

Thompson, Terrl G., Morrison, Karen E., Kleyn, Patrick, Bengtsson, Ulla, Gilliam, T.Conrad, Davies, Kay E., Wasmuth, John J., McPherson, John D.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 2.84 MB

english, 1993

35

New human DNA polymorphisms submitted to the genome data base

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 633 KB

english, 1993

36

2.6 Mb YAC contig of the human X inactivation center region in Xq13: physical linkage of the RPS4X, PHKA1, XIST and DXS128E genes

Lafrenlère, Ronald G., Brown, Carolyn J., Rider, Sue, Chelly, Jamel, Taillon-Miller, Patricia, Chinault, A.Craig, Monaco, Anthony P., Willard, Huntington F.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 4.17 MB

english, 1993

37

X-linked recessive primary retinal dysplasia is linked to the Norrie disease locus

Ravia, Yehoshua, Braier-Goldstein, Orly, Bat-Miriam, Katznelson Mariassa, Erlich, Shai, Barkai, Gad, Goldman, Boleslaw

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 1.27 MB

english, 1993

38

Dinucleotide repeat polymorphism in the 3'untranslated region of an anonymous brain cDNA mapping to chromosome 2 (D2S230)

Byerley, William, Khan, Akbar S., Holik, John, Hoff, Mark, Sikela, James M.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 89 KB

english, 1993

39

The isolation of a yeast artificial chromosome (YAC) contig extending for 2 megabases in the vicinity of the Von Hippel Lindau disease gene

Liu, Wanguo, Plechockl, Marie, Shridhar, Viji, Lyles, Gregory, Song, Zheng, Nakamura, Yasuke, Drabkin, Harry, Vance, Jeffrey, Smith, David I.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 3.25 MB

english, 1993

40

The development of sequence-tagged sites for human chromosome 4

Goold, Richard D., diSibio, Guy L., Xu, Haidong, Lang, David B., Dadgar, Jahan, Magrane, Gregg G., Dugaiczyk, Achilles, Smith, Kristen A., Cox, David W., Masters, Susan B., Myers, Richard M.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 3.47 MB

english, 1993

41

High frequency gene targeting using insertional vectors

Dickinson, Paul, Kimber, Wendy L., Kilanowski, Fiona M., Stevenson, Barbara J., Porteous, David J., Dorin, Julia R.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 2.05 MB

english, 1993

42

Identification of type I collagen gene (COL1A2) mutations in nonlethal osteogenesis imperfecta

Sztrolovics, R., Glorieux, F.H., van der Rest, M., Roughley, P.J.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 401 KB

english, 1993

43

SSCP polymorphism in exon 8B of the human G proteina αO2 subunit (GNA01) gene

Drews, R.T., Lagacé, G., Gravel, R.A., Collu, R.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 57 KB

english, 1993

44

Genetic mapping of the breast-ovarian cancer syndrome to a small interval on chromosome 17q12–21: exclusion of candidate genes EDH17B2 and RARA

Simard, Jacques, Feunteun, Jean, Lenoir, Gilbert, Tonin, Patricia, Normand, Thlerry, The, Van Luu, Vivler, Anne, Lasko, Dana, Morgan, Kenneth, Rouleau, Guy A., Lynch, Henry, Labrie, Femand, Narod, Ste

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 573 KB

english, 1993

45

A new VNTR polymorphism at locus D1S340

Honma, Masamitsu, Mitani, Khonosuke, Mizusawa, Hiroshi, Hayashi, Makoto, Sofuni, Toshio, Muramatsu, Masami, Komonami, Ryo

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 89 KB

english, 1993

46

Germline deletion in a neurofibromatosis type 2 kindred inactivates the NF2 gene and a candidate meningioma locus

Sanson, Marc, Marineau, Claude, Desmaze, Chantale, Lutchman, Mohini, Ruttledge, Martin, Baron, Chantal, Narod, Steven, Delattre, Olivier, Lenoir, Gilbert, Thomas, Gilles, Aurlas, Alain, Rouleau, Guy A

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 4.18 MB

english, 1993

47

Comparative mapping of 9 human chromosome 22q loci in the laboratory mouse

Bućan, Maja, Gatalica, Biljana, Nolan, Patrick, Chung, Alice, Leroux, Alena, Grossman, Mark H., Nadeau, Joseph H., Emanuel, Beverly S., Budarf, Marcia

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 1.86 MB

english, 1993

48

Allelic diversity at minisatellite MS205 (D16S309): evidence for polarized variability

Armour, John A.L., Harris, Peter C., Jeffreys, Alec J.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 3.50 MB

english, 1993

49

Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: linkage disequilibrium allows high resolution mapping

Lehesjokl, Anna-Ellna, Koskiniemi, Marjaleena, Norio, Reljo, Tirrito, Salvatore, Sistonen, Perttl, Lander, Eric, Chapelle, Albert de la

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 587 KB

english, 1993

50

Author index

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 83 KB

english, 1993

51

Dinucleotide repeat polymorphism at the D11S995 locus

Browne, D.L., Heyningen, V.van, Bickmore, W., Litt, M.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 99 KB

english, 1993

52

A chromosome 10p11.2 GT-dinucleotide repeat polymorphism at the GLUDP5 gene locus

Goulielmos, G., Angelicheva, D., Kapsetaki, M., Manifava, M., Moschonas, N.K.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 114 KB

english, 1993

53

Bsml polymorphism at the parathyroid hormone receptor locus (PTHR) in three populations

Hustmye, Frank G., Schipani, Ernestina, Peacock, Munro

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 85 KB

english, 1993

54

Bg /ll restriction fragment length polymorphism at the gene locus coding for the leukocyte surface antigen CD37

Virtaneva, Kimmo I., Nevanlinna, Heli, Schroder, Jim

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 1.58 MB

english, 1993

55

The leading role of STSs in genome mapping

Ward, Tristan, Davles, Kay E.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 171 KB

english, 1993

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