Volume 3; Issue 6

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Human Molecular Genetics
Volume 3; Issue 6

Human Molecular Genetics

Volume 3; Issue 6

1

Rapid chromosome identification by oligonucleotide-primed in situ DNA synthesis (PRINS)

Gosden, John, Lawson, Diane

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 4.54 MB

english, 1994

2

Identification of two novel mutations in the methylmalonyl-CoA mutase gene with decreased levels of mutant mRNA in methylmalonic acidemia

Ogasawara, Masahito, Matsubara, Yoichi, Mikami, Hitoshi, Narisawa, Kuniaki

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 5.40 MB

english, 1994

3

Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common α-L-iduronidase mutations (W402X and Q70X) among European patients

Bunge, Susanna, Kleijer, Wim J., Steglich, Cordula, Beck, Michael, Zuther, Cornelia, Morris, C.Phillip, Schwinger, Eberhard, Hopwood, John J., Scott, Hamish S., Gal, Andreas

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.62 MB

english, 1994

4

A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene

Guilford, Parry, Ayadi, Hamadi, Blanchard, Stéphane, Chaib, Hassan, Paslier, Denis Le, Weissenbach, Jean, Drira, Mohamed, Petit, Christine

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 533 KB

english, 1994

5

Four novel germ-line mutations in the APC gene detected by heteroduplex analysis

Hamzehloei, Tayebeh, West, Sarah P., Chapman, Pam D., Burn, John, Curtis, Ann

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 3.53 MB

english, 1994

6

Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia

Lorenz, Claudius, Meyer-Kleine, Christof, Steinmeyer, Klaus, Koch, Manuela C., Jentsch, Thomas J.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 2.31 MB

english, 1994

7

Identification of a new variant CYP2D6 allele with a single base deletion in exon 3 and its association with the poor metabolizer phenotype

Saxena, Richa, Shaw, Gall L., Relling, Mary V., Frame, James N., Moir, Donald T., Evans, William E., Caporaso, Neil, Weiffenbach, Barbara

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 3.36 MB

english, 1994

8

Missense mutation in the choroideremia gene

Donnelly, P., Menet, H., Fouanon, C., Herbert, O., Moisan, J.P., Roux, M.G.Le, Pascal, O.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.43 MB

english, 1994

9

Identification of two novel mutations and a new polymorphism in the gene for Cu/Zn superoxide dismutase in patients with amyotrophic lateral sclerosis

Esteban, Jesus, Rosen, Daniel R., Bowling, Allen C., Sapp, Peter, McKenna-Yasek, D., O'Regan, Jeremiah P., Beal, M.Flint, Horvitz, H.Robert, Brown, Robert H.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.97 MB

english, 1994

10

Three microsatellite polymorphisms at the recoverin locus on chromosome 17

Wiechmann, A.F., Haro, K.C., Bowden, D.W.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 91 KB

english, 1994

11

Two mutations, one novel and one frequently observed, in Japanese patients with McArdle's disease

Tsujino, Seiichi, Shanske, Sara, Goto, Yu-ichi, Nonaka, Ikuya, DiMauro, Salvatore

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 2.06 MB

english, 1994

12

Isolation and fine mapping of (CA) n repeats from the Xp11.23 and Xp11.4 region

Schindelhauer, D., Achatz, H., Strom, T.M., Ross, M., Carvalho, M.R.S., Meindl, A.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 106 KB

english, 1994

13

A new locus for autosomal dominant retinitis pigmentosa on the short arm of chromosome 17

Greenberg, Jacquie, Goliath, Rene, Beighton, Peter, Ramesar, Rajkumar

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 336 KB

english, 1994

14

Dinucleotide repeat polymorphisms at the DXS85, DXS16 and DXS43 loci

Chang, Y.-P.C., Smith, K.D., Dover, G.J.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 71 KB

english, 1994

15

Two novel rare frameshift mutations (2423 del G in exon 13 and 1215 del G in exon 7) and one novel rare sequence variation (3271 + 18 C or T) identified in a patient with cystic fibrosis

Romey, Marie-Catherine, Desgeorges, Marie, Laussel, Maguelone, Durand, Marie-France, Demaille, Jacques, Claustres, Mireille

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 2.49 MB

english, 1994

16

A recurrent 14 bp deletion in the CLCN1 gene associated with generalized myotonia (Becker)

Meyer-Kleine, Christof, Ricker, Kenneth, Otto, Michael, Koch, Manuela C.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 3.92 MB

english, 1994

17

Characterization of the translocation breakpoint on chromosome 22q12.2 in a patient with neurofibromatosis type 2 (NF2)

Arai, Eiko, Ikeuchi, Tatsuro, Nakamura, Yusuke

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 3.49 MB

english, 1994

18

A frequent ala 4 to val superoxide dismutase-1 mutation is associated with a rapidly progressive familial amyotrophic lateral sclerosis

Rosen, Daniel R., Bowling, Allen C., Patterson, David, Usdin, Ted B., Sapp, Peter, Mezey, Eva, McKenna-Yasek, Diane, O'Regan, Jerimiah, Rahmani, Zohra, Ferrante, Robert J., Brownstein, Michael J., Kow

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 5.53 MB

english, 1994

19

A nonsense mutation (R220X) in the α-galactosidase A gene detected in a female carrier of Fabry disease

Meaney, Cathy, Blanch, Lianne C., Morris, C.Phillip

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.90 MB

english, 1994

20

The Friedreich ataxia region: characterization of two novel genes and reduction of the critical region to 300 kb

Duclos, F., Rodius, F., Wrogemann, K., Mandel, J.-L., Koenig, M.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.78 MB

english, 1994

21

A mouse Y chromosome gene encoded by a region essential for spermatogenesis and expression of male-specific minor histocompatibility antigens

Agulnik, Alexander I., Mitchell, Michael J., Lerner, Jody L., Woods, Diane R., Bishop, Colin E.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 4.90 MB

english, 1994

22

Half the dystrophin gene is apparently enough for a mild clinical course: confirmation of its potential use for gene therapy

Passos-Bueno, M.R., Vainzof, M., Marie, S.K., Zatz, M.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.80 MB

english, 1994

23

Pyruvate dehydrogenase deficiency caused by a 33 base pair duplication in the PDH E1α subunit

Hansen, Lise Lotte, Horn, Nina, Dahl, Hans-Henrik M., Kruse, Torben A.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.62 MB

english, 1994

24

Identification of two new mutations (711 + 3A→G and V1397E) in CF chromosomes of Albanian and Macedonian origin

Petreska, Lidija, Kočeva, Svetlana, Gordova-Muratovska, Aleksandra, Nestorov, Risto, Efremov, Georgi D.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.86 MB

english, 1994

25

Two complementation groups account for most cases of inherited MHC class II deficiency

Lisowska-Grospierre, Barbara, Fondaneche, Marie-Claude, Rols, Marie-Pierre, Griscelli, Claude, Fischer, Alain

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 3.65 MB

english, 1994

26

A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR

Schaedel, Charlotta, Kristoffersson, Ann-Charlotte, Kornfält, Ragnhild, Holmberg, Lars

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.77 MB

english, 1994

27

A somatic mutation in the adenomatous polyposis coli (APC) gene in peripheral blood cells — implications for predictive diagnosis

Mandl, Marion, Kadmon, Martina, Sengteller, Marlies, Caspari, Reiner, Propping, Peter, Friedl, Waltraut

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 3.22 MB

english, 1994

28

A novel X gene with a widely transcribed Y-linked homologue escapes X-inactivation in mouse and human

Agulnik, Alexander I., Mitchell, Michael J., Mattei, Marie-Geneviève, Borsani, Giuseppe, Avner, Philip A., Lerner, Jody L., Bishop, Colin E.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 3.10 MB

english, 1994

29

Author index

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 79 KB

english, 1994

30

A de novo mutation of the RET proto-oncogene in a patient with MEN 2A

Mulligan, Lois M., Eng, Charis, Healey, Catherine S., Ponder, Margaret A., Feldman, Gerald L., Li, Peizhi, Jackson, Charles E., Ponder, Bruce A.J.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 2.28 MB

english, 1994

31

No mental retardation in a man with 40% abnormal methylation at the FMR-1 locus and transmission of sperm cell mutations as premutations

Rousseau, François, Robb, Laura J., Rouillard, Patricia, Kaloustian, Vazken M. Der

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 2.08 MB

english, 1994

32

The gene for arrhythmogenic right ventricular cardiomyopathy maps to chromosome 14q23–q24

Rampazzo, Alessandra, Nava, Andrea, Danieli, Gian A., Buja, Gianfranco, Daliento, Luciano, Fasoli, Giuseppe, Scognamiglio, Roldano, Corrado, Domenico, Thlene, Gaetano

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 352 KB

english, 1994

33

Molecular genetic analysis of the 3p — syndrome

Phipps, Maude E., Latif, Farida, Prowse, Amanda, Payne, Stewart J., Dietz-Band, Jeanne, Leversha, Margaret, Affara, Nabeel A., Moore, Anthony T., Tolmie, John, Schinzel, Albert, Lerman, Michael I., Fe

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 3.50 MB

english, 1994

34

Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient

Nouspikel, Thierry, Clarkson, Stuart G.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 3.40 MB

english, 1994

35

Dinucleotide repeat polymorphism at the DXS977 locus

Yan, D., Wong, D., Zheng, K., Thiselton, D., Fujita, R., Sieving, P.A., Bhattacharya, S.S., Yang-Feng, T.L., Richards, J.E., Swaroop, A.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 98 KB

english, 1994

36

TXK , a novel human tyrosine kinase expressed in T cells shares sequence identity with Tec family kinases and maps to 4p12

Haire, Robert N., Ohta, Yuko, Lewis, Janet E., Fu, Shu Man, Kroisel, Peter, Litman, Gary W.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 2.27 MB

english, 1994

37

Detection of aberrant DNA methylation in unique Prader — Willi syndrome patients and its diagnostic implications

Buiting, Karin, Dittrich, Bärbel, Robinson, Wendy P., Guitart, Mirlam, Abeliovich, Dvorah, Lerer, Israela, Horsthemke, Bernhard

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 2.08 MB

english, 1994

38

Mutations in the connexin 32 gene in X-linked dominant Charcot—Marie—Tooth disease (CMTX1)

Fairweather, N., Bell, C., Cochrane, S., Chelly, J., Wang, S., Mostacciuolo, M.L., Monaco, A.P., Haites, N.E.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 44 KB

english, 1994

39

One base deletion in the cysteine-rich domain of the dystrophin gene in Duchenne muscular dystrophy patients

Tsukamoto, Hiroko, Inui, Koji, Matsuoka, Taro, Yanagihara, Itaru, Fukushima, Hisao, Okada, Shintaro

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 3.31 MB

english, 1994

40

Seven polymorphisms at the COL10A1 locus

Rash, B., Sweetman, W., Sykes, B., Thomas, T., Grant, M., Boot-Handford, R., Wallis, G.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 62 KB

english, 1994

41

Human immunoglobulin V H and D segments on chromosomes 15q11.2 and 16p11.2

Ian, M.Tomlinson, Cook, Graham P., Nigel, P.Carter, Elaswarapu, Ramnath, Smith, Sarah, Walter, Gerald, Buluwela, Lakjaya, Rabbitts, Terence H., Winter, Greg

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 3.32 MB

english, 1994

42

Substitution of a cysteine residue in a non-calcium binding, EGF-like domain of fibrillin segregates with the Marfan syndrome in a large kindred

Piersall, Linda D., Dietz, Harry C., Hall, Bryan D., Cadle, Ronald G., Pyeritz, Reed E., Francomano, Clair A., McIntosh, Iain

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 2.06 MB

english, 1994

43

Identification of six novel mutations in the CFTR gene of patients from Bulgaria by screening the twenty seven exons and exon/intron boundaries using DGGE and direct sequencing

Savov, A., Mercier, B., Kalaydjieva, L., Férec, C.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 44 KB

english, 1994

44

Mutations of the neurofibromatosis type 2 gene and lack of the gene product in vestibular schwannomas

Sainz, Jesús, Huynh, Duong P., Figueroa, Karla, Ragge, Nikola K., Baser, Michael E., Pulst, Stefan-Matthias

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 4.97 MB

english, 1994

45

SSCP at the BTK locus

Vořechovský, I.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 97 KB

english, 1994

46

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

Consevage, Michael W., Salada, Grant C., Baylen, Barry G., Ladda, Roger L., Rogan, Peter K.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 3.98 MB

english, 1994

47

Polymorphisms in the keratin 8 gene detected by PCR

McLean, W.H.I., Sultan, N., Parfitt, E., Lane, E.B.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 97 KB

english, 1994

48

DXS997 localized to intron 48 of dystrophin

Saad, F.A., Busque, C., Vitiello, L., Danieli, G.A.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 42 KB

english, 1994