Volume 4; Issue 8

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Human Molecular Genetics
Volume 4; Issue 8

Human Molecular Genetics

Volume 4; Issue 8

1

A large deletion together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe disease

Rafi, Mohammad A., Luzi, Paola, Chen, Yue Qun, Wenger, David A.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 2.35 MB

english, 1995

2

Autosomal recessive lamellar ichthyosis: identification of a new mutation in transglutaminase 1 and evidence for genetic heterogeneity

Parmentier, Laurent, Blanchet-Bardon, Claudine, Nguyen, Simon, Prud'homme, Jean-François, Dubertret, Louis, Weissenbach, Jean

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 2.08 MB

english, 1995

3

Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs

Wirth, B., Hahnen, E., Morgan, K., DiDonato, C.J., Dadze, A., Rudnik-Schöneborn, S., Simard, L.R., Zerres, K., Burghes, A.H.M.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 5.68 MB

english, 1995

4

Expression of full-length and truncated dystrophin mini-genes in transgenic mdx mice

Phelps, Stephanie F., Hauser, Michael A., Cole, Neil M., Rafael, Jill A., Hinkle, Richard T., Faulkner, John A., Chamberlain, Jeffrey S.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 3.51 MB

english, 1995

5

Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3

Bitner-Glindzicz, Maria, Turnpenny, Peter, Höglund, Pia, Kääriäinen, Helena, Sankila, Eeva-Marja, van der Maarel, Sylvere M., de Kok, Yvette J.M., Ropers, Hans-Hilger, Cremers, Frans P.M., Pembrey, Ma

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 3.21 MB

english, 1995

6

Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson—Weiss syndrome

Gorry, Michael C., Preston, Robert A., White, Gregory J., Zhang, Yingze, Singhal, Virender K., Losken, H.Wolgang, Parker, Michael G., Nwokoro, Ngozi A., Post, J.Christopher, Ehrlich, Garth D.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 3.82 MB

english, 1995

7

Myotonia levior is a chloride channel disorder

Lehmann-Horn, Frank, Mailänder, Volker, Heine, Roland, George, Alfred L.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 4.78 MB

english, 1995

8

A nonsense mutation of the human luteinizing hormone receptor gene in Leydig cell hypoplasia

Laue, Louisa, Wu, Shao-Ming, Kudo, Masataka, Hsueh, Aaron J.W., Cutler, Gordon B., Griffin, James E., Wilson, Jean D., Brain, Caroline, Berry, A.Caroline, Grant, David B., Chan, Wai-Yee

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 1.77 MB

english, 1995

9

Localization of the syndactyly type II (synpolydactyly) locus to 2q31 region and identification of tight linkage to HOXD8 intragenic marker

Sarfarazi, Mansoor, Akarsu, A.Nurten, Sayli, Bekir Sitki

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 1.84 MB

english, 1995

10

Friedreich's ataxia: a defect in signal transduction?

Carvajal, Jaime J., Pook, Mark A., Doudney, Kit, Hillermann, Renate, Wilkes, David, Al-Mahdawi, Sahar, Williamson, Robert, Chamberlain, Susan

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 3.55 MB

english, 1995

11

Isolation of chromosome-specific genes by reciprocal probing of arrayed cDNA and cosmid libraries

Lee, Cheng Chi, Yazdani, Ali, Wehnert, Manfred, Zhao, ZhaoYang, Lindsay, Elizabeth A., Bailey, Jennifer, Coolbaugh, Mary I., Couch, Lisa, Xiong, Mengli, Chinault, A.Craig, Baldini, Antonio, Caskey, C.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 4.25 MB

english, 1995

12

Expression of human full-length and minidystrophin in transgenic mdx mice: implications for gene therapy of Duchenne muscular dystrophy

Wells, Dominic J., Wells, Kim E., Asante, Emmanuel A., Turner, Gaynor, Sunada, Yoshihide, Campbell, Kevin P., Walsh, Frank S., Dickson, George

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 6.76 MB

english, 1995

13

Characterization of the 5' region of the Fanconi anaemia group C ( FACC ) gene

Savoia, Anna, Centra, Marta, lanzano, Leonarda, de Cillis, Gian Pio, Zelante, Leopoldo, Buchwald, Manuel

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 1.77 MB

english, 1995

14

A novel nonsense mutation in the PKD1 gene (C3817T) is associated with autosomal dominant polycystic kidney disease (ADPKD) in a large three-generation Italian family

Turco, Alberto E., Rossetti, Sandro, Bresin, Elena, Corra, Stefano, Gammaro, Linda, Maschio, Giuseppe, Pignatti, Pier Franco

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 2.85 MB

english, 1995

15

Genetic and physical characterization of the early-onset Alzheimer's disease AD3 locus on chromosome 14q24.3

Cruts, Marc, Backhovens, Hubert, Theuns, Jessie, Clark, Robert F., Le Paslier, Denis, Weissenbach, Jean, Goate, Alison M., Martin, Jean-Jaques, Van Broeckhoven, Christine

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 1.56 MB

english, 1995

16

Author index

Journal:

Human Molecular Genetics

Year:

1995

File:

PDF, 498 KB

1995

17

Localization of 102 exons to a 2.5 Mb region involved in Down syndrome

Lucente, D., Chen, H.M., Shea, D., Samec, S.N., Rutter, M., Chrast, R., Rossier, C., Buckler, A., Antonarakis, S.E., McCormick, M.K.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 4.99 MB

english, 1995

18

Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNA Ser(UCN) gene

Tiranti, Valeria, Chariot, Patrick, Carella, Francesco, Toscano, Antonio, Soliveri, Paola, Girlanda, Paolo, Carrara, Franco, Fratta, Giovanni Matteo, Reid, Fiona M., Mariotti, Caterina, Zeviani, Massi

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 2.19 MB

english, 1995

19

Model for a transcript map of human chromosome 21: isolation of new coding sequences from exon and enriched cDNA libraries

Yaspo, Marie-Laure, Gellen, Lisa, Mott, Richard, Korn, Bernhard, Nizetic, Dean, Poustka, AnneMarie, Lehrach, Hans

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 10.96 MB

english, 1995

20

A transcribed human sequence related to the mouse HC1 and the human papillomavirus type 18 E5 genes is located at chromosome 7p13–14

Geisen, Caroline, Delius, Hajo, Lichter, Peter, Kahn, Tomas

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 4.93 MB

english, 1995

21

A widespread amino acid polymorphism at codon 905 of the glycogen-associated regulatory subunit of protein phosphatase-1 is associated with insulin resistance and hypersecretion of insulin

Hansen, Lars, Hansen, Torben, Vestergaard, Henrik, Bjørbæk, Christian, Echwald, Søren M., Clausen, Jesper O., Chen, Yu Hua, Chen, Mao Xiang, Cohen, Patricia T.W., Pedersen, Oluf

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 2.49 MB

english, 1995

22

Comparison of the positional cloning methods used to isolate the BRCA1 gene

Harshman, Keith, Bell, Russell, Rosenthal, Judith, Katcher, Harold, MlKl, Yoshio, Swenson, Jeff, Gholami, Zahra, Frye, Cheryl, Ding, Wei, Dayananth, Priya, Eddington, Ken, Norris, Franklin H., Bristow

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 740 KB

english, 1995

23

An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q

Bardienb, Soraya, Ebenezer, Neil, Greenberg, Jacquie, Inglehearn, Chris F., Bartmann, Lecia, Goliath, Rene, Beighton, Peter, Ramesar, Rajkumar, Bhattacharya, Shomi S.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 365 KB

english, 1995

24

A de novo frame-shift mutation in the tuberin gene

Kumar, A., Wolpert, C., Kandt, R.S., Segal, J., Pufky, J., Roses, A.D., Pericak-Vance, M.A., Gilbert, J.R.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 987 KB

english, 1995

25

Localization of autosomal dominant cerebellar ataxia associated with retinal degeneration and anticipation to chromosome 3p12-p21.1

Holmberg, Monica, Johansson, Jenni, Forsgren, Lars, Heijbel, Jan, Sandgren, Ola, Holmgren, Gösta

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 461 KB

english, 1995

26

Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease

Attié, Tania, Pelet, Anna, Edery, Patrick, Eng, Charis, Mulligan, Lois M., Amiel, Jeanne, Boutrand, Laetitia, Beldjord, Chérif, Nihoul-Fékété, Claire, Munnich, Arnold, Ponder, Bruce A.J., Lyonnet, Sta

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 637 KB

english, 1995

27

Expression of the Huntington's disease (IT15) protein product in HD patients

Schilling, Gabrlele, Sharp, Alan H., Loev, Scott J., Wagster, Molly V., Li, Shi-Hua, Stine, O.Colin, Ross, Christopher A.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 4.05 MB

english, 1995

28

On unequal allelic expression of the neurofibromin gene in neurofibromatosis type 1

Hoffmeyer, Sven, Assum, Günter, Griesser, Johann, Kaufmann, Dieter, Nurnberg, Peter, Krone, Winfrid

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 3.73 MB

english, 1995

29

A gene for Leber's congenital amaurosis maps to chromosome 17p

Camuzat, Agnès, Dollfus, Hélène, Rozet, Jean-Michel, Gerber, Sylvie, Bonneau, Dominique, Bonnemaison, Michèle, Briard, Marie-Louise, Dufier, Jean-Louis, Ghazi, Imad, Leowski, Corinne, Weissenbach, Jea

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 519 KB

english, 1995

30

Recurrent nasal polyps as a monosymptomatic form of cystic fibrosis associated with a novel in-frame deletion (591del18) in the CFTR gene

Varon, Raymonda, Magdorf, Klaus, Staab, Doris, Wahn, Hans-Ulrich, Krawczak, Michael, Sperling, Karl, Reis, André

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 219 KB

english, 1995

31

Molecular analysis of four males with mental retardation and deletions of Xq21 places the putative MR region in Xq21.1 between DXS233 and CHM

May, Melanie, Colleaux, Laurence, Murgia, Alessandra, Aylsworth, Arthur, Nussbaum, Robert, Fontes, Michel, Schwartz, Charles

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 225 KB

english, 1995

32

A yeast artificial chromosome contig from human chromosome 14q24 spanning the Alzheimer's disease locus AD3

Clark, Robert F., Cruts, Marc, Korenblat, Kevin M., He, Chengshi, Talbot, Christopher, Van Broeckhoven, Christine, Goate, Alison M.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 2.13 MB

english, 1995

33

Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25)

Héon, Elise, Sheth, Bhavna P., Kalenak, Jeffrey W., Sunden, Sara L.F., Streb, Luan M., Taylor, Chris M., Alward, Wallace L.M., C.Sheffield, Val, Stone, Edwin M.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 3.15 MB

english, 1995

34

Inactivation of Apoe and Apoc1 by two consecutive rounds of gene targeting: effects on mRNA expression levels of gene cluster members

van Ree, Janine H., van den Broek, Walther J.J.A., van der Zee, André, Dahlmans, Vivian E.H., Wieringa, Bé, Frants, Rune R., Havekes, Louis M., Hofker, Marten H.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 2.27 MB

english, 1995