Volume 4; Issue 9

Main
Human Molecular Genetics
Volume 4; Issue 9

Human Molecular Genetics

Volume 4; Issue 9

1

Familial non-specific dementia maps to chromosome 3

Brown, Jerry, Ashworth, Anthony, Gydesen, Susanne, Sorensen, Asger, Rossor, Martin, Hardy, John, Collinge, John

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 347 KB

english, 1995

2

Cloning and characterization of alternatively spliced isoforms of Dp71

Richard C., Austin, Howard, Perry L., D'Souza, Vinita N, Klamut, Henry J., Ray, Peter N.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 7.22 MB

english, 1995

3

Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: quantification of the mutation frequency spectrum

P.Leeflang, Esther, Zhang, Lin, Tavare, Simon, Hubert, Rene, Srinidhi, Jayalakshmi, E.MacDonald, Marcy, H.Myers, Richard, Young, Margot de, S.Wexler, Nancy, F.Gusella, James, Arnheim, Norman

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 2.26 MB

english, 1995

4

Sequence variation and size ranges of CAG repeats in the Machado-Joseph disease, spinocerebellar ataxia type 1 and androgen receptor genes

Rubinsztein, David C., Leggo, Jayne, Coetzee, Gerhard A., Irvine, Ryan A., Buckley, Michael, Ferguson-Smith, Malcolm A.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 598 KB

english, 1995

5

The pre-mRNA of nuclear respiratory factor 1, a regulator of mitochondrial biogenesis, is alternatively spliced in human tissues and cell lines

Spelbrink, Johannes N., Van den Bogert, Coby

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 1.19 MB

english, 1995

6

Population genetics of trinucleotide repeat polymorphisms

Watkins, W.S., Bamshad, M., Jorde, L.B.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 3.23 MB

english, 1995

7

Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia

Wang, Qing, Shen, Jiaxiang, Li, Zhizhong, Timothy, Katherine, Vincent, G.Michael, Priori, Silvia G., Schwartz, Peter J., Keating, Mark T.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 3.17 MB

english, 1995

8

Linkage disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to chromosome 10q23. 1-q23.3

Fukai, Kazuyoshi, Oh, Jangsuk, Frenk, Edgar, Almodóvar, Carmelo, Spritz, Richard A.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 3.52 MB

english, 1995

9

Osteoblastic cells derived fronm isolated lesions of fibrous dysplasia contain activating somatic mutatuions of thje G s α gene

Shenker, Andrew, Chanson, Philippe, Welnstein, Lee S., Chi, Patty, Spiegel, Alen M., Lomri, Abderrahim, MARIE, Pierre J.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 1.94 MB

english, 1995

10

CDNA selection from 10 Mb of Chromosome 21 DNA: efficiency in transcriptional mapping and reflections of genome organization

Tassone, Flora, Xu, Hongxia, Burkin, Heather, Weissman, Sherman, Gardiner, Katheleen

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 4.34 MB

english, 1995

11

Candidate regions for a testicular cancer susceptibility gene

Leahy, Michael G., Tonks, Susan, Moses, Jonathan H., Brett, A.Rosemary, Huddart, Robert, Forman, David, Oliver, R.Timothy D., Bishop, D.Timothy, Bodmer, Julia G.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 485 KB

english, 1995

12

Localization of the Schwartz–Jampel syndrome (SJS) locus to chromosome 1p34–p36.1 by homozygosity mapping

Nicole, Sophie, Hamida, Christiane Ben, Beighton, Peter, Bakouri, Selim, Belal, Samir, Romero, Norma, Viljoen, Denis, Ponsot, Gérard, Sammoud, Azza, Weissenbach, Jean, Fardeau, Michel, Hamida, Mongi B

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 366 KB

english, 1995

13

Intronic point mutation in the IL2RG gene causing X-linked severe combined immunodeficiency

Tassara, Carla, Pepper, Amy E., Puck, Jennifer M.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 3.66 MB

english, 1995

14

The genes for a spliceosome protein (SAP62) and the anti-Müllerian hormone (AMH) are contiguous

Dresser, David W., Hacker, Adam, Lovell-Badge, Robin, Guerrier, Daniel

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 2.05 MB

english, 1995

15

Identification of two new KCNA1 mutations in episodic ataxia/myokymia families

Browne, D.L., Brunt, E.R.P., Griggs, R.C., Nutt, J.G., Gancher, S.T., Smith, E.A., Litt, M.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 1.47 MB

english, 1995

16

Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population

Baldwin, Clinton T., Weiss, Sari, Farrer, Lindsay A., De Stefano, Anita L., Adair, Ronald, Franklyn, Barbara, Kidd, Kenneth K., Korostishevsky, Michael, Bonné-Tamir, Batsheva

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 518 KB

english, 1995

17

A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis

Olson, Timothy M., Michels, Virginia V., Urban, Zsolt, Cslszar, Katalin, Christiano, Angela M., Driscoll, David J., Feldt, Robert H., Boyd, Charles D., Thibodeau, Stephen N.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 3.44 MB

english, 1995

18

A muscle-specific DNase I-like gene in human Xq28

Parrish, Julia E., Ciccodicola, Alfredo, Wehnert, Manfred, Cox, Gerald F., Chen, Ellson, Nelson, David L.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 3.34 MB

english, 1995

19

Multiple independent occurrence of the 3243 mutation in mitochondrial tRNA leuUUR in patients with the MELAS phenotype

J.Morten, Karl, Poulton, Joanna, Sykes, Bryan

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 307 KB

english, 1995

20

Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p

Christodoulou, Kyproula, Kyriakides, Theodoros, Hristova, Anna H., Georgiou, Domna-Maria, Kalaydjieva, Ljuba, Yshpekova, Borjana, Ivanova, Tatjana, L.Weber, James, T.Middleton, Lefkos

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 296 KB

english, 1995

21

A novel L23-related gene 40 kb downstream of the imprinted H19 gene is biallelically expressed in mid-fetal and adult human tissues

Tsang, Patricia, Gilles, Frederic, Yuan, Luwa, Kuo, Yu-Hung, Lupu, Floria, Samara, Ghassan, Moosikasuwan, Josh, Goye, Andre, Zelenetz, Andrew D., Selleri, Licia, Tycko, Benjamin

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 4.86 MB

english, 1995

22

Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli

I.Goodman, Stephen, Kratz, Lisa E., DiGiulio, Kathleen A., Biery, Barbara J., Goodman, Karen E., Isaya, Grazia, Frerman, Frank E.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 1.83 MB

english, 1995

23

Pretibial epidermolysis bullosa: genetic linkage to COL7A1 and identification of a glycine-to-cysteine substitution in the triple-helical domain of type VII collagen

M.Christiano, Angela, Lee, Julia Yu-Yun, J.Chen, Wei, LaForgia, Sal, Uitto, Jouni

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 1.81 MB

english, 1995

24

Localization of the gene for progressive bifocal chorioretinal atrophy (PBCRA) to chromosome 6q

Kelsell, Rosemary E., Godley, Bernard F., Evans, Kevin, Tiffin, Peter A.C., Gregory, Cheryl Y., Plant, Catherine, Moore, Anthony T., Bird, Alan C., Hunt, David M.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 344 KB

english, 1995

25

The upstream stimulatory factor functionally interacts with the Alzheimer amyloid β-protein precursor gene

Kovacs, Dora M., Wasco, Wilma, Witherby, Johanna, Felsenstein, Kevin M., Brunei, Franck, Roeder, Robert G., Tanzi, Rudolph E.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 5.14 MB

english, 1995

26

Proximal deletions of the long arm of the Y chromosome suggest a critical region associated with a specific subset of characteristic Turner stigmata

Barbaux, Sandrine, Vilain, Eric, Raoul, Odile, Gilgenkrantz, Simone, Jeandidier, Eric, Chadenas, Denis, Souleyreau, Nicole, Fellous, Marc, McElreavey, Ken

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 1.43 MB

english, 1995

27

Spontaneous deletion in the FMR1 gene in a patient with fragile X syndrome and cherubism

Quan, Franklin, Grompe, Marcus, Jakobs, Petra, Popovich, Bradley W.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 2.13 MB

english, 1995

28

Sequence microheterogeneity in apolipoprotein(a) gene repeats and the relationship to plasma Lp(a) levels

Mancini, Francesco P., Mooser, Vincent, Guerra, Rudy, Hobbs, Helen H.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 4.51 MB

english, 1995

29

Mutation of the glucagon receptor gene and diabetes mellitus in the UK: association or founder effect?

Gough, Stephen C.L., Saker, Philip J., Pritchard, Lynn E., Merriman, Tony R., Merriman, Marilyn E., Rowe, Bethan R., Kumar, Sudhesh, Aitman, Timothy, Barnett, Anthony H., Turner, Robert C., Bain, Step

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 437 KB

english, 1995

30

Predominant neuronal expression of the gene responsible for dentatorubral-pallidoluysian atrophy (DRPLA) in rat

Schmitt, Ina, T.Epplen, Jörg, Riess, Olaf

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 2.45 MB

english, 1995

31

The gene for progressive myoclonus epilepsy of the Lafora type maps to chromosome 6q

M.Serratosa, José, V.Delgado-Escueta, Antonio, Posada, Ignacio, Shih, Susan, Drury, Ivo, Berciano, José, Zabala, J.Antonio, Antúnez, M.Carmen, S.Sparkes, Robert

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 3.62 MB

english, 1995

32

A deletion and an insertion in the alleles for the xeroderma pigmentosum (XPA) DNA-binding protein in mildly affected patients

E.Cleaver, James, C.Charles, Wayne, H.Thomas, Greg, L.McDowell, Mindy

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 3.33 MB

english, 1995

33

Author index

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 78 KB

english, 1995

34

A frequently occurring mutation in the lipoprotein lipase gene (Asn291Ser) contributes to the expression of familial combined hyperlipidemia

Reymer, Paul W.A., Groenemeyer, Björn E., Gagné, Eric, Miao, Li, Appelman, Elianne E.G., Seidel, Jaap C., Kromhout, Daan, Bijvoet, Saskia M., van de Oever, Karin, Bruin, Taco, Hayden, Michael R., P.Ka

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 1.62 MB

english, 1995

35

Constant rearrangement of the CMT1A-REP sequences in HNPP patients with a deletion in chromosome 17p11.2: a study of 30 unrelated cases

LeGuern, E., Gouider, R., Lopes, J., Abbas, N., Gugenheim, M., Tardieu, S., Ravisé, N., Léger, J.-M., Vallat, J.-M., Bouche, P., Agid, Y., Brice, A.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 1.79 MB

english, 1995

36

The introduction of two silent mutations into a CFTR cDNA construct allows improved detection of exogenous mRNA in gene transfer experiments

Hart, Stephen L., Mayall, Edward, Stern, Myra, Munkonge, Felix M., Frost, Amy, Huang, Leaf, Vasilliou, Maria, Williamson, Robert, AIton, Eric W.F.W., Coutelle, Charles

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 1.92 MB

english, 1995

37

Consanguineous nuclear families used to identify a new locus for recessive non-syndromic hearing loss on 14q

Fukushima, Kunihiro, Ramesh, Arabandi, Srisailapathy, C.R.Srikumari, Ni, Li, Chen, Achih, O'Neill, Marsha, Camp, Guy Van, Coucke, Paul, D.Smith, Shelley, B.Kenyon, Judith, Jain, Pawain, Wilcox, Ed.R.,

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 2.16 MB

english, 1995

To build up a library is to create a life. It’s never just a random collection of books.

— Carlos María Domínguez

Official channel

Z-Library Desktop Launcher

Tor version

Z-Library

Z-Library Since 2009 support@z-lib.do

EnglishРусскийEspañolItalianoελληνικάاللغة العربيةBahasa IndonesiaBahasa Malaysiaहिन्दीDeutschFrançaisPortuguêsУкраїнськаPolski中文繁體中文日本語Tiếng ViệtAzərbaycan DiliՀայոց լեզուภาษาไทยTürk Diliქართველიবাংলাپښتوతెలుగుاردو한국어SrpskiБългарски