Volume 3; Issue 9

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Human Molecular Genetics
Volume 3; Issue 9

Human Molecular Genetics

Volume 3; Issue 9

1

p53 tagged sites from human genomic DNA

Tokino, Takashi, Thiagalingam, Sam, EI-Deiry, Wafik S., Waldman, Todd, Kinzler, Kenneth W., Vogelstein, Bert

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 541 KB

english, 1994

2

A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene

Brunner, Han G., van Beersum, Sylvia E.C., Warman, Matt L., Olsen, Bjorn R., Ropers, Hans-Hilger, Mariman, Edwin C.M.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 381 KB

english, 1994

3

Molecular basis of essential fructosuria: molecular cloning and mutational analysis of human ketohexokinase (fructokinase)

Bonthron, David T., Brady, Nlcola, Donaldson, lain A., Steinmann, Beat

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 2.36 MB

english, 1994

4

Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions

Petrukhin, Konstantin, Lutsenko, Svetiana, Chernov, Igor, Ross, Barbara M., Kaplan, Jack H., Gilliam, T.Conrad

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 5.91 MB

english, 1994

5

A histidine to tyrosine replacement in lysosomal acid lipase causes cholesteryl ester storage disease

Paganl, Franco, Zagato, Laura, Merati, Glullana, Paone, Giovanni, Gridelli, Bruno, Maler, Janette A.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 3.35 MB

english, 1994

6

A novel homozygous point mutation in the collagen VII gene (COL7A1) in two cousins with recessive dystrophic epidermolysis bullosa

Dunnill, M.G.S., Richards, A.J., Mllana, G., Mollica, F., Eady, R.A.J., Pope, F.M.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 3.94 MB

english, 1994

7

Identification of a de novo insertional mutation in P o in a patient with a Déjérine - Sottas syndrome (DSS) phenotype

Rautenstrauβ, Bernd, Nelis, Eva, Grehl, Holger, Pfeiffer, Rudolf A., Van Broeckhoven, Christine

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.99 MB

english, 1994

8

X-linked dominant Charcot — Marie — Tooth neuropathy: valine-38-methionine substitution of connexin32

Orth, Ulrike, Fairweather, Nicholas, Exler, Mareike-Christine, Schwinger, Eberhard, Gal, Andreas

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.85 MB

english, 1994

9

A family with Ehlers — Danlos syndrome type III/articular hypermobility syndrome has a glycine 637 to serine substitution in type III collagen

Narcisi, Paolo, J.Richards, Allan, Ferguson, Stanley D., Pope, F.Michael

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.63 MB

english, 1994

10

Functional characterization of the novel L108W and P186L mutations detected in the type II 3β-hydroxysteroid dehydrogenase gene of a male pseudohermaphrodite with congenital adrenal hyperplasia

Sanchez, Roclo, Mébarki, Farida, Rhéaume, Eric, Laflamme, Nathalie, Forest, Maguelone G., Bey-Omard, Faïza, David, Michel, Morel, Yves, Labrle, Fernand, Simard, Jacques

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 3.37 MB

english, 1994

11

Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping

Hillaire, Dominique, Leclerc, Anne, Fauré, Sabine, Topaloglu, Haluk, Chiannllkulchaï, Nuchanard, Guicheney, Pascale, Grinas, Laurent, Legos, Patricia, Philpot, Joanne, Evangelista, Teresinha, Routon,

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 465 KB

english, 1994

12

Evidence for origin, by recurrent mutation, of the phenylalanine hydroxylase R408W mutation on two haplotypes in European and Quebec populations

Byck, Susan, Morgan, Ken, Tyfield, Linda, Dworniczak, Bernd, Scriver, Charles R.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 283 KB

english, 1994

13

Novel missense and frameshift mutations in the tissue-nonspecific alkaline phosphatase gene in a Japanese patient with hypophosphatasia

Orimo, Hideo, Hayashi, Zuisei, Watanabe, Atsushi, Hirayama, Tsunenori, Hirayama, Tsuneo

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 3.29 MB

english, 1994

14

Mutations in the vasopressin V2-receptor gene in three families of Italian descent with nephrogenic diabetes insipidus

Faà, V., Ventruto, M.L., Loche, S., Bozzola, M., Podda, R., Cao, A., Rosatelli, M.C.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.34 MB

english, 1994

15

Precursor arrays for triplet repeat expansion at the fragile X locus

Hirst, Mark C., Grewal, Prabhjit K., Davies, Kay E.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 4.16 MB

english, 1994

16

Identification of genes within CpG-enriched DNA from human chromosome 4p16.3

John, Rosallnd M., Robbins, Carolyn A., Myers, Richard M.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 553 KB

english, 1994

17

A new missense mutation, Arg719Gln, in the β-cardiac heavy chain myosin gene of patients with familial hypertrophic cardiomyopathy

Consevage, M.W., Salada, G.C., Baylen, B.G., Ladda, R.L., Rogan, P.K.

Journal:

Human Molecular Genetics

Year:

1994

File:

PDF, 20 KB

1994

18

Eleven novel germline mutations in the adenomatous polyposis coli (APC) gene

Paffenholz, Ralner, Mandl, Marion, Caspari, Reiner, Sengteller, Marlies, Propping, Peter, Friedl, Waltraut

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1023 KB

english, 1994

19

The Wilms tumour (WT1) gene is mutated in a secondary leukaemia in a WAGR patient

Pritchard-Jones, K., Renshaw, J., King-Underwood, L.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 2.34 MB

english, 1994

20

Detection of a novel mutation (stop 468) in exon 10 of the low-density lipoprotein receptor gene causing familial hypercholesterolemia among French Canadians

Simard, Jacques, Moorjani, Sital, Vohl, Marie-Claude, Couture, Patrick, Torres, Ana L., Gagné, Claude, Després, Jean-Pierre, Labrie, Fernand, Lupien, Paul J.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.56 MB

english, 1994

21

Four novel mutations of the APC (adenomatous polyposis coli) gene in FAP patients

Stella, Alessandro, Montera, Mariapina, Resta, Nicoletta, Marchese, Cristina, Susca, Francesco, Gentile, Mattia, Romio, Leila, Pilia, Simonetta, Prete, Ferdinando, Mareni, Cristina, Guanti, Ginevra

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 2.91 MB

english, 1994

22

Twelve simple repeat sequence polymorphisms on chromosomes 4, 11, 16 and 21

lizuka, Masayoshi, Sugiyama, Yuki, Jones, Carol, Oshimura, Mitsuo, Hayashi, Kenshi, Sekiya, Takao

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 991 KB

english, 1994

23

The gene for hereditary breast-ovarian cancer, BRCA1, maps distal to EDH17B2 in chromosome region 17q12–q21

Tonin, Patricia, Serova, Olga, Simard, Jacques, Lenoir, Gilbert, Feunteun, Jean, Morgan, Kenneth, Lynch, Henry, Narod, Steven

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 291 KB

english, 1994

24

Selection of cDNAs using chromosome-specific genomic clones: application to human chromosome 13

de Fatima, Maria, Yu, Ming-Tsung, Jelenc, Plerre, Brown, Stephen, Su, Long, Lawton, Lee, Deaven, Larry, Eistratiadis, Argiris, Warburton, Dorothy, Soares, Marcelo Bento

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.12 MB

english, 1994

25

Dinucleotide repeat polymorphism at D14S542

Carey, M.L., Liang, Y., Barber, T.D., Morell, R., Johnson, D.H., Cox, S., Asher, J.H., Friedman, T.B.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 100 KB

english, 1994

26

Microsatellite repeat polymorphism at the D16S366 locus

Schultz, E.A., Callen, D.F., Doggett, N.A., Haines, J.L., Lerner, T.J.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 95 KB

english, 1994

27

Author index

Journal:

Human Molecular Genetics

Year:

1994

File:

PDF, 72 KB

1994

28

Non-disjunction of chromosome 21 in maternal meiosis I: evidence for a maternal age-dependent mechanism involving reduced recombination

Sherman, Stephanie L., Petersen, Michael B., Freeman, Sallie B., Hersey, Jane, Pettay, Dorothy, Taft, Lisa, Frantzen, Merete, Mikkelsen, Margareta, Hassold, Terry J.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 669 KB

english, 1994

29

MIC2R: a transcribed MIC2 -related sequence associated with a CpG island in the human pseudoautosomal region

Smith, Matthijs J., Goodfellow, Peter N.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 5.28 MB

english, 1994

30

Dystroglycan: brain localisation and chromosome mapping in the mouse

C.Górecki, Darlusz, Derry, Jonathan M.J., Barnard, Eric A.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 12.01 MB

english, 1994

31

Separation anxiety: the etiology of nondisjunction in flies and people

Hawley, R.Scott, A.Frazier, Jennifer, Rasooly, Rebekah

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 2.59 MB

english, 1994

32

Sequence analysis of the fragile X trinucleotide repeat: implications for the origin of the fragile X mutation

Snow, Karen, Tester, David J., Kruckeberg, Kent E., Schaid, Daniel J., Thibodeau, Stephen N.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 4.10 MB

english, 1994

33

Pathophysiology of sodium channelopathies: correlation of normal/mutant mRNA ratios with clinical phenotype in dominantly inherited periodic paralysis

Zhou, Jianhua, Spier, Sharon J., Beech, Jill, Hoffman, Eric P.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 485 KB

english, 1994

34

A dinucleotide repeat polymorphism at the D9S749 locus

Brown, G.M., Furlong, R.A., Affara, N.A.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 94 KB

english, 1994

35

Monoallelic expression of normal mRNA in the PIT1 mutation heterozygotes with normal phenotype and biallelic expression in the abnormal phenotype

Okamoto, Nobuhiko, Wada, Yoshinao, Ida, Shinobu, Koga, Ryoichi, Ozono, Kelichi, Chiyo, Hide-aki, Hayashi, Akira, Tatsumi, Ke-ita

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.65 MB

english, 1994

36

Assignment of a locus for dominantly inherited venous malformations to chromosome 9p

Boon, Laurence M., Mulliken, John B., Vikkula, Milkka, Watkins, Hugh, Seidman, John, Olsen, Bjorn R., Warman, Matthew L.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.61 MB

english, 1994

37

Dinucleotide repeat polymorphism in the human IL1A gene

Epplen, C., Frank, G., Gomolka, M., Albert, E., Nurnberg, P., Epplen, J.T.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 92 KB

english, 1994

38

A de novo deletion in FMR1 in a patient with developmental delay

Gu, Yanghong, Lugenbeel, Kellle A., Vockley, Joseph G., Grody, Wayne W., Nelson, David L.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 3.16 MB

english, 1994

39

Localization of a gene for autosomal dominant amelogenesis imperfecta (ADAI) to chromosome 4q

Forsman, Kristina, Lind, Lisbet, Bäckman, Birgitta, Westermark, Eleonora, Holmgren, Gösta

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.59 MB

english, 1994

40

Hin dIll RFLP in the human CD53 gene on 1p13

Gallego, M.I., Varas, F., Lazo, P.A.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 104 KB

english, 1994

41

Instructions to Authors

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 2.46 MB

english, 1994

42

G/T polymorphism in CRYA2 gene

Ashworth, A., Campbell, T., Palmer, M., Collinge, J., Brown, J.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 100 KB

english, 1994

43

Amino acid polymorphism (Gly209Ser) in the ACADS gene

Kristensen, M.J., Kmoch, S., Bross, P., Andresen, B.S., Gregersen, N.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 104 KB

english, 1994

44

A locus of the candidate gene family for azoospermia factor (YRRM2) is polymorphic with a null allele in Japanese males

Nakahori, Y., Kobayashi, K., Komaki, R., Matsushita, I., Nakagome, Y.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 2.19 MB

english, 1994

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