Volume 4; Issue 3

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Human Molecular Genetics
Volume 4; Issue 3

Human Molecular Genetics

Volume 4; Issue 3

1

A G-to-T transversion at the +5 position of intron 1 in the glutaryl CoA dehydrogenase gene is associated with the island Lake variant of glutaric acidemia type I

Greenberg, Cheryl R., Reimer, David, Singal, Rupinder, Triggs-Raine, Barbara, Chudley, Albert E., Dilling, Louise A., Philipps, Sylvia, Haworth, James C., Seargeant, Lorne E., Goodman, Stephen I.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 325 KB

english, 1995

2

Mucopolysaccharidosis IVA: screening and identification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase gene

Ogawa, Tatsuya, Tomatsu, Shunji, Fukuda, Seiji, Yamagishi, Atsushi, Rezvi, Golam Md. Maruf, Sukegawa, Kazuko, Kondo, Neomi, Suzuki, Yasuyuki, Shimozawa, Nobuyuki, Orii, Tadao

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 800 KB

english, 1995

3

Familial adenomatous polyposis: desmoid tumours and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444

Caspari, Reiner, Olschwang, Sylciane, Friedl, Waltraut, Mandl, Marion, Boisson, Cécile, Böker, Thorsten, Augustin, Albert, Kadmon, Martina, Möslein, Gabriela, Thomas, Gilles, Propping, Peter

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 347 KB

english, 1995

4

Recombination rates across the HLA complex: use of microsatellites as a rapid screen for recombinant chromosomes

Martin, Maureen, Mann, Dean, Carrington, Mary

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 605 KB

english, 1995

5

The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac α and β myosin heavy chain genes on chromosome 14q11.2−q13

Brais, Bernard, Xie, Ya-Gang, Sanson, Marc, Morgan, Kenneth, Weissenbach, Jean, Korczyn, Amos D., Blumen, Sergiu C., Fardeau, Michel, Tomé, Fernando M.S., Bouchard, Jean-Pierre, Rouleau, Guy A.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 693 KB

english, 1995

6

Deletion of the C-terminal end of aspartylgiucosaminidase resulting in a lysosomal accumulation disease: evidence for a unique genomic rearrangement

Jalanko, Anu, Manninen, Tuula, Paltonen, Leena

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 721 KB

english, 1995

7

Evidence from antibody studies that the CAG repeat in the Huntington disease gene is expressed in the protein

Jou, Yuh-Shan, Myers, Richard M.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 538 KB

english, 1995

8

Analysis of the CTG repeat in skeletal muscle of young and adult myotonic dystrophy patients: when does the expansion occur?

Zatz, Mayana, Passos-Bueno, Maria Rita, Cerqueira, Antonia, Marie, Suely K., Vainzof, Mariz, Pavanello, Rita C.M.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 489 KB

english, 1995

9

Sets of short tandem repeat polymorphisms for efficient linkage screening of the human genome

Dubovsky, Jan, Sheffield, Val C., Duyk, Geoffrey M., Weber, James L.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 365 KB

english, 1995

10

Genetic heterogeneity of autosomal recessive limbgirdle muscular dystrophy in a genetic isolate (Amish) and evidence for a new locus

Allamand, V., Broux, O., Bourg, N., Richard, I., Tischfield, J.A., Hodes, M.E., Conneally, P.M., Fardeau, M., Jackson, C.E., Beckmann, J.S.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 414 KB

english, 1995

11

Molecular basis of p(CCG)n repeat instability at the FRA16A fragile site locus

Nancarrow, J.K., Holman, K., Mangelsdorf, M., Hori, T., Denton, M., Sutherland, G.R., Richards, R.I.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 487 KB

english, 1995

12

Spectrum of germline mutations in the RB1 gene: a study of 232 patients with hereditary and non hereditary retinoblastoma

Blanquet, Véronique, Turleau, Catherine, Gross-Morand, Marie Sylvie, Sénamaud-Beaufort, Catherine, Doz, François, Besmond, Claude

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 585 KB

english, 1995

13

Author index

Journal:

Human Molecular Genetics

Year:

1995

File:

PDF, 54 KB

1995

14

Expression of the myotonin protein kinase gene in preimplantation human embryos

Daniels, Robert, Kinis, Thannasis, Serhal, Paul, Monk, Marilyn

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 480 KB

english, 1995

15

Single cell analysis demonstrating somatic mosaicism involving 11p in a patient with paternal isodisomy and Beckwith—Wiedemann syndrome

Bischoff, Farideh Z., Feldman, Gerald L., McCaskill, Christopher, Subramanian, Stephanie, Hughes, Mark R., Shaffer, Lisa G.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 434 KB

english, 1995

16

Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype

Fantes, Judy, Redeker, Bert, Breen, Matthew, Boyle, Shelagh, Brown, John, Fletcher, Judy, Jones, Sinead, Bickmore, Wendy, Fukushima, Yoshimitsu, Mannens, Marcel, Danes, Sarah, van Heyningen, Veronica,

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 733 KB

english, 1995

17

DNA binding capacity of the WT1 protein is abolished by Denys—Drash syndrome WT1 point mutations

Little, Melissa, Holmes, Gregory, Bickmore, Wendy, van Heyningen, Veronica, Hastie, Nicholas, Wainwright, Brandon

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 829 KB

english, 1995

18

Expression of the neurofibromatosis 2 (NF2) gene isoforms during rat embryonic development

Gutmann, David H., Wright, Douglas E., Geist, Robert T., Snider, William D.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 753 KB

english, 1995

19

Blepharophimosis syndrome is linked to chromosome 3q

Small, Kent W., Stalvey, Mike, Fisher, Lucretia, Mullen, Lynne, Dickel, Cynthia, Beadles, Kevin, Reimer, Robert, Lessner, Alan, Lewis, Karen, Pericak-Vance, Margaret

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 411 KB

english, 1995

20

A novel point mutation in the Cu/Zn superoxide dismutase gene in a patient with familial amyotrophic lateral sclerosis

Ikeda, M., Abe, K., Ogasawara, M., Kameya, T., Watanabe, M., Shoji, M., Hirai, S., Itoyama, Y.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 185 KB

english, 1995

21

Dp140: a novel 140 kDa CNS transcript from the dystrophin locus

Lidov, Hart G. W., Selig, Sara, Kunkel, Louis M.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 721 KB

english, 1995

22

Linkage of posterior polymorphous corneal dystrophy to 20q11

Héon, Elise, Mathers, William D., Alward, L.M.Alward, Weisenthal, Robert W., Sunden, Sara L.F., Fishbaugh, Jill A., Taylor, Chris M., Krachmer, Jay H., Sheffield, Val C., Stone, Edwin M.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 370 KB

english, 1995

23

Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome

Schell, Ute, Hehr, Andreas, Feldman, George J., Robin, Nathaniel H., Zackai, Elaine H., de Die-Smulders, Christine, Viskochil, David H., Stewart, Janet M., Wolff, Gerhard, Ohashi, Hirofumi, Price, R.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 1.95 MB

english, 1995

24

Tissue-specific expression of a FMR1 /β-galactosidase fusion gene in transgenic mice

Hergersberg, Martin, Matsuo, Koichi, Gassmann, Max, Schaffner, Walter, Lüscher, Bernhard, Rülicke, Thomas, Aguzzi, Adriano

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 751 KB

english, 1995

25

Cloning of a human homologue of the Xenopus Iaevis APX gene from the ocular albinism type 1 critical region

Schiaffino, M.Vittoria, Bassi, Maria T., Rugarli, Elena I., Renieri, Alessandra, Galli, Lucia, Ballabio, Andrea

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 1.01 MB

english, 1995

26

A gene responsible for cavernous malformations of the brain maps to chromosome 7q

Dubovsky, Jan, Zabramski, Joseph M., Kurth, Janice, Spetzier, Robert F., Rich, Steven S., Orr, Harry T., Weber, James L.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 523 KB

english, 1995

27

Cloning of a putative human voltage-gated chloride channel (CIC-2) cDNA widely expressed in human tissues

Cid, Luis P., Montrose-Rafizadeh, Charhzad, Smith, David I., Guggino, William B., Cutting, Garry R.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 751 KB

english, 1995

28

Missense mutations in the NDP gene in patients with a less severe course of Norrie disease

Meindl, Alfons, Lorenz, Bright, Achatz, Helene, Hellebrand, Heide, Schmitz-Valckenberg, Peter, Meitinger, Thomas

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 233 KB

english, 1995

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