Volume 3; Issue 4

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Human Molecular Genetics
Volume 3; Issue 4

Human Molecular Genetics

Volume 3; Issue 4

1

Apolipoprotein E, ɛ4 allele as a major risk factor for sporadic early and late-onset forms of Alzheimer's disease: analysis of the 19q13.2 chromosomal region

Chartier-Hariln, Marie-Christine, Parfitt, Matthew, Legrain, Sylvle, Pérez-Tur, Jordi, Brousseau, Thierry, Evans, Alun, Berr, Claudine, Vldal, Odile, Roques, Penelope, Gourlet, Véronique

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 572 KB

english, 1994

2

High resolution ordering of YAC contigs using extended chromatin and chromosomes

Haaf, Thomas, Ward, David C.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 2.53 MB

english, 1994

3

Two novel mutations in the CFTR gene: W1089X in exon 17B and 4010delTATT in exon 21

Shoshanl, Tzipora, Augarten, Arie, Yahav, Jaacov, Gazit, Ephraim, Kerem, Batsheva

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.44 MB

english, 1994

4

Isolation of human simple repeat loci by hybridization selection

Armour, John A.L., Neumann, Rita, Gobert, Stephanie, Jeffreys, Alec J.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 3.08 MB

english, 1994

5

CFTR haplotype backgrounds on normal and mutant CFTR genes

Cuppens, Harry, Teng, Hui, Raeymaekers, Peter, De Boeck, Christine, Casslman, Jean-Jacques

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 743 KB

english, 1994

6

Novel frame shift deletions of the phenylalanine hydroxylase gene in phenylketonuria

Bénit, Paule, Rey, Françolse, Melle, Dominique, Munnich, Arnold, Rey, Jean

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.39 MB

english, 1994

7

Molecular characterization of phenylketonuric mutations in Japanese by analysis of phenylalanine hydroxylase mRNA from lymphoblasts

Okano, Yoshlyuki, Hase, Yutaka, Shintaku, Haruo, Arakl, Kumlko, Furuyama, Jun-lchl, Oura, Toshiakl, Isshlkl, Gen

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 231 KB

english, 1994

8

Characterization of four mutations in the neurofibromatosis type 1 gene by denaturing gradient gel electrophoresis (DGGE)

Valero, M.Carmen, Velasco, Eladlo, Moreno, Felipe, Heméndez-Chico, Concepclón

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.34 MB

english, 1994

9

A novel gene encoding a B-box protein within the BRCA1 region at 17q21.1

Campbell, Ian G., Nicolal, Hans M., Foulkes, William D., Senger, abriel, Stamps, Gordon W., Allans, Gordon, Boyer, Clnda, Jones, Karen, Bast, Robert C., Solomon, Ellen, Trowsdale, John, Black, Donald

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 3.76 MB

english, 1994

10

A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome

Meljer, Henk, de Graaff, Esther, Merckx, Diane M.L., Jongbloed, Roselle J.E., de Die-Smulders, Christine E.M., Engelen, John J.M., Fryns, Jean-Pierre, Curfs, Paul M.G., Oostra, Ben A.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 4.75 MB

english, 1994

11

Author index

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 71 KB

english, 1994

12

A missense point mutation (Leu13Arg) of the Norrie disease gene in a large Cuban kindred with Norrie disease

Fuchs, S., Xu, S.Y., Caballero, M., Salcedo, M., O, A.La, Wedemann, H., Gal, A.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.74 MB

english, 1994

13

A novel splice donor mutation affecting position + 3 in intron 6 of the factor VIII gene

Bidichandan, Sanjay I., Shiach, Caroline R., Lanyon, W.George, Connor, J.Michael

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.66 MB

english, 1994

14

Exon skipping associated with A→G transition at +4 of the IVS33 splice donor site of the neurofibromatosis type 1 (NF1) gene

Hutter, Pierre, E.Antonarakis, Stylianos, Delozier-Blanchet, Célla D., Morris, Michael A.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 2.88 MB

english, 1994

15

ERRATA

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 85 KB

english, 1994

16

Detailed mapping of germline deletions of the von Hippel—Lindau disease tumour suppressor gene

Richards, Frances M., Crossey, Paul A., Phlpps, Maude E., Foster, Keith, Latif, Farida, Evans, Gareth, Sampson, Julian, Lerman, Michael I., Zbar, Berton, Affara, Nabeel A., Ferguson-Smith, Malcolm A.,

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 2.06 MB

english, 1994

17

The neurofibromatosis 2 (NF2) tumor suppressor gene encodes multiple alternatively spliced transcripts

Pykett, Mark J., Murphy, Maureen, Harnish, Peter R., George, Donna L.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 3.31 MB

english, 1994

18

Evidence for a microdeletion in 1q32–41 involving the gene responsible for Van der Woude syndrome

Sander, A., Schmelzle, R., Murray, J.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.88 MB

english, 1994

19

Characterization and tissue-specific expression of the human ‘very low density lipoprotein (VLDL) receptor’ mRNA

Webb, Julie C., Patel, Dilip D., Jones, Michael D., Knight, Brian L., Soutar, Anne K.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 5.31 MB

english, 1994

20

Dinucleotide repeat polymorphism at the DXS1683 locus

Econs, M.J., Francis, F., Rowe, P.S.N., Speer, M.C., O'Riordan, J.L.H., Lehrach, H., Becker, P.A.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 96 KB

english, 1994

21

D20S213, a microsatellite polymorphism near the D20S16 locus

Howard, T.D., Rothschild, C.B., Bowden, D.W.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 85 KB

english, 1994

22

Alternative splicing of the NF2 gene and its mutation analysis of breast and colorectal cancers

Arakawa, Hirofuml, Hayashl, Naoko, Nagase, Hirokl, Ogawa, Michlo, Nakamura, Yusuke

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 3.35 MB

english, 1994

23

Sandwiching of a gene within 12 kb of a functional telomere and alpha satellite does not result in silencing

A.L.Bayne, Rosemary, Broccoli, Dominique, Taggart, Mary H., Thomson, Eric J., Farr, Christine J., J.Cooke, Howard

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 5.77 MB

english, 1994

24

Germline RET mutations in MEN 2A and FMTC and their detection by simple DNA diagnostic tests

Xue, Feiyu, Yu, Hong, Maurer, L.Herbert, Memoll, Vincent A., Nutile-McMenemy, Nancy, Schuster, Melissa K., Bowden, Donald W., Mao, Jen-I, Noll, Walter W.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.52 MB

english, 1994

25

Identification of a 5' splice site mutation in intron 4 of the L1CAM gene in an X-linked hydrocephalus family

Coucke, Paul, Vits, Lleve, Camp, Guy Van, Serville, Francoise, Lyonnet, Stanislas, Kenwrick, Susan, Rosenthal, André, Wehnert, Manfred, Munnich, Arnold, Willems, Patrick J.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.81 MB

english, 1994

26

BamHI RFLP for the GHRHR locus

Cao, Y., Wagner, J.K., Eblé, A., Hindmarsh, P., Mullis, P.E.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 39 KB

english, 1994

27

Towards high resolution maps of the mouse and human genomes—a facility for ordering markers to 0.1 cM resolution

Breen, Maria, Deakln, Lisa, Macdonald, Bernard, Miller, Steve, Sibson, Ross, Tarttelln, Emma, Avner, Philip, Bourgade, Franck, Guenet, Jean-Louis, Montagutelli, Xavler, Polrier, Christophe, Simon, Dom

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 2.40 MB

english, 1994

28

A gene from the Xp22.3 region shares homology with voltage-gated chloride channels

Slegtenhorst, Marjon A.van, T.Bassl, Maria, Borsanil, Gluseppe, Wapenaar, Martin C., Ferrero, Giovanni B., de Concillls, Lisa, Rugarli, Elena I., Grillo, Alessandra, Franco, Brunella, Y.Zoghbl, Huda,

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 3.24 MB

english, 1994

29

Mutations of the ACTH receptor gene are only one cause of familial glucocorticoid deficiency

Weber, Angela, J.L.Clark, Adrian

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 303 KB

english, 1994

30

A differential efficiency of adenovirus-mediated in vivo gene transfer into skeletal muscle cells of different maturity

Acsadi, Gyula, Jani, Agnes, Massie, Bernard, Simoneau, Maude, Holland, Paul, Blaschuk, Katharine, Karpati, George

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 3.19 MB

english, 1994

31

Identification of a novel S0D1 mutation in an apparently sporadic amyotrophic lateral sclerosis patient and the detection of lle113Thr in three others

Jones, Cheryl T., Swingler, Robert J., Brock, David J.H.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 2.90 MB

english, 1994

32

Cloning of MITF, the human homolog of the mouse microphthalmia gene and assignment to chromosome 3p14. 1-p12.3

Tachibana, Masayoshl, Perez-Jurado, Luis A., Nakayama, Atsuo, Hodgkinson, Colin A., Li, Xu, Schneider, Mark, Miki, Toru, Fex, Jo¨ren, Francke, Uta, Amheiter, Heinz

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.89 MB

english, 1994

33

ADDITIONAL INFORMATION

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 42 KB

english, 1994

34

Taql polymorphism in intron 2 of the GCDH gene

Haworth, J.C., Singal, R., Goodman, S.I., Greenberg, C.R.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 106 KB

english, 1994

35

CORRIGENDA

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 82 KB

english, 1994

36

Tetranucleotide repeat polymorphism at the D8S322 locus

Fillmore, K., Lu, J., Riley, R., Petterson, M., Ward, K.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 89 KB

english, 1994

37

A PCR method for detecting polymorphism in the TGFA gene

Basart, A.M., Qian, J.F., May, E., Murray, J.C.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 106 KB

english, 1994

38

An intragenic Taql RFLP at the PAX5 locus

Vořechovský, I., Kozmík, Z., Hammarström, L., Smith, C.I.E., Busslinger, M.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 89 KB

english, 1994

39

A submicroscopic deletion in a patient with isolated X-linked ocular albinism (OA1)

Bassi, Maria T., Bergen, Arthur A.B., Wapenaar, Martin C., Schlaffino, Maria V., van Schooneveld, Mary, Yates, John R.W., Charles, Stephen J., Meltinger, Thomas, Ballabio, Andrea

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.35 MB

english, 1994

40

Dinucleotide repeat polymorphism in the IL2 and IL5RA genes

Epplen, C., Frank, G., Gomolka, M., Nagy, M., Nūrnberg, P., Epplen, J.T.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 100 KB

english, 1994

41

D10S681, a microsatellite polymorphism near the RET locus

Schuster, M.K., Bowden, D.W.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 85 KB

english, 1994

42

CA repeat polymorphism at the TCF8 locus

Wardlaw, J.C., Brodie, S.G., Seddon, H.L., Williams, T.M.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 98 KB

english, 1994

43

A microsatellite, D8S602, adjacent to the MSR gene

Schmidt, L., Pozzatti, R., Li, H., Wei, M.H., Vocke, C., Linehan, W.M., Tory, K.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 100 KB

english, 1994

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