Volume 3; Issue 8

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Human Molecular Genetics
Volume 3; Issue 8

Human Molecular Genetics

Volume 3; Issue 8

1

Identification of intragenic mutations in the Von Hippel — Lindau disease tumour suppressor gene andcorrelation with disease phenotype

A.Crossey, Paul, M.Richards, Frances, Foster, Keith, reen, Jane S., Prowse, Amanda, Latlf, Farida, Lerman, Michael I., Zbar, Berton, Atfara, Nabeel A., Ferguson-Smith, Malcolm A.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 2.97 MB

english, 1994

2

The origin of 47, XXY and 47, XXX aneuploidy: heterogeneous mechanisms and role of aberrant recombination

MacDonald, M., Hassold, T., Harvey, J., Wang, L.H., Morton, N.E., Jacobs, P.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 627 KB

english, 1994

3

Allelic methylation of H19 and IGF2 in the Beckwith — Wiedemann syndrome

Reik, Wolf, W.Brown, Keith, E.Slatter, Rosalind, Sartor, Pat, Elliott, Margaret, R.Maher, Eamonn

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 3.54 MB

english, 1994

4

Coproporphyrinogene oxidase: gene organization and description of a mutation leading to exon 6 skipping

Delfau-Larue, Marie-Hélène, Martasek, Pavel, Grandchamp, Bernard

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 4.46 MB

english, 1994

5

Characterization of an 800 kb region at 3p22-p21.3 that was homozygously deleted in a lung cancer cell line

Murata, Yasushi, Tamari, Mayuml, Takahashl, Takashi, Horio, Yoshltsugu, Hlbi, Kenji, Yokoyama, Shiro, Inazawa, Johjl, Yamakawa, Kazuhiro, Ogawa, Akimi, Takahashi, Toshitada, Nakamura, Yusuke

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.36 MB

english, 1994

6

Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystropothhy

Hewitt, Jane E., Lyle, Robert, Clark, Lorraine N., Valleley, Elizabeth M., Wright, Tracy J., Wijmenga, Cisca, van Deutekom, Judith C.T., Francis, Fiona, Sharpe, Paul T., Hofker, Marten, Frants, Rune R

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 5.20 MB

english, 1994

7

Molecular characterization of a novel human gene, SEC13R, related to the yeast secretory pathway gene SEC13, and mapping to a conserved linkage group on human chromosome 3p24-p25 and mouse chromosome 6

Swaroop, Anand, Yang-Feng, Teresa L., Liu, Wanguo, Gieser, Linn, Barrow, Lon L., Chen, Kuang-Chao, Agarwal, Neeraj, Meisler, Miriam H., Smith, David I.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 4.39 MB

english, 1994

8

Distribution of CENP-B boxes reflected in CREST centromere antigenic sites on long-range α-satellite DNA arrays of human chromosome 21

Ikeno, Masashi, Masumoto, Hiroshi, Okazaki, Tuneko

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 9.51 MB

english, 1994

9

Novel mutations in the V2 vasopressin receptor gene of patients with X-linked nephrogenic diabetes insipidus

Wenkert, David, Merendino, John J., Shenker, Andrew, Thambl, Nina, Robertson, Gary L., Moses, Arnold M., Spiegel, Allen M.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 4.02 MB

english, 1994

10

Localization of the genetic locus for Saethre-Chotzen syndrome to a 6 cM region of Ihromosome 7 using four cases with apparently balanced translocations at 7p21.2

S.P.Rose, Charlotte, A.J.King, Alexandra, Summers, Doreen, Palmer, Roger, Yang, Samuel, WIIkle, Andrew O.M., Reardon, William, Malcolm, Sue, M.Winter, Robin

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 300 KB

english, 1994

11

Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly

W.Scherer, Stephen, Poorka], Parvoneh, Massa, Hillary, Soder, Sylvia, Allen, Todd, Nunes, Mark, Geshurl, Dorrit, Wong, Eddy, Bellonl, Elena, Little, Stephen, Zhou, Lumlng, Becker, Donna, Kere, Juha, I

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 5.11 MB

english, 1994

12

Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22

G.Puffenberger, Erik, R.Kauffman, Erick, Bolk, Stacey, C.Matise, Tara, S.Washington, Sarah, Angrist, Misha, Weissenbach, Jean, L.Garver, Kenneth, Mascari, Maria, Ladda, Roger, A.SIaugenhaupt, Susan, C

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 4.09 MB

english, 1994

13

An A to G polymorphism in the SHBG gene

Xu, Yongsheng, Li, Honghua

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 101 KB

english, 1994

14

Dinucleotide repeat polymorphism at the DXS1684 locus

Gong, W., Hu, L., Kioschis, P., Poutska, A., Dahl, N.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 103 KB

english, 1994

15

The glycerol kinase gene family: structure of the Xp gene, and related intronless retroposons

Sargent, Carole A., Young, Craig, Marsh, Sharon, Ferguson-Smith, Malcolm A., Affara, Nabeel A.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 2.17 MB

english, 1994

16

Addition of functional human telomeres to YACs

Taylor, Stephen S., Smith, Chris Tyler

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.87 MB

english, 1994

17

Dinucleotide repeat polymorphisms at the D5S1356, D5S1357 and D7S1480 loci

Velasco, E., de la Puente, A., Cruces, J., Valero, M. del Carmen, Garcfa-Patino, E., Castillo, l.del, Coloma, A., Moren, F., Hernández-Chico, C.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 87 KB

english, 1994

18

Familial split hand/split foot long bone deficiency does not segregate with markers linked to the SHFD1 locus in 7q21.3–q22.1

Marinoni, Jean-Christophe, Boyd, Ellen, Sherman, Stephanie, Schwartz, Charles

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 267 KB

english, 1994

19

Five novel missense mutations of the rhodopsin gene in autosomal dominant retinitis pigmentosa

Souied, Eric, Gerber, Sylive, Rozet, Jean-Michel, Bonneau, Dominique, Dufier, Jean-Louis, Ghazi, Ihmad, Philip, Nicole, Soubrane, Gisèle, Coscas, Gabriel, Munnich, Arnold, Kaplan, Josseline

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.72 MB

english, 1994

20

Linkage of ‘pure’ autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity

Hentati, A., Perlcak-Vance, M.A., Hung, W.-Y., Belal, S., Laing, N., Boustany, R-M., Hentatl, F., Hamlda, M.Ben, Siddlque, T.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 353 KB

english, 1994

21

Identification of a locus, distinct from RDS-peripherin, for autosomal recessive retinitis pigmentosa on chromosome 6p

Knowles, James A., Shugart, Yin, Banerjee, Poulabl, Gilllam, T.Conrad, Lewis, Charies A., Jacobson, Samuel G., Ott, Jurg

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 246 KB

english, 1994

22

A novel splice site mutation intron 1 of the GALNS gene in a Japanese patient with mucopolysaccharidosis IVA

Tomatsu, Shunji, Fukuda, Seiji, Ogawa, Tatsuya, Kato, Zenichiro, Isogal, Kouji, Kondo, Nsomi, Suzuki, Yasuyuki, Shimozawa, Nobuyuki, Sukegawa, Kazuko, Orii, Tadao

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 945 KB

english, 1994

23

A novel mutation in the von Hippel — Lindau gene

B.Loeb, Deborah, A.Pericak-Vance, Margaret, M.StajIch, Jeffrey, Vance, Jeffery M.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.78 MB

english, 1994

24

Are CpG sites mutation hot spots in the dystrophin gene?

Akalin, Nur, Zletklewicz, Ewa, Makalowskl, Wojclech, Labuda, Damian

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.09 MB

english, 1994

25

Junctional epidermolysis bullosa inversa (locus EBR2A) assigned to 1q31 by linkage and association to LAMC1

Gedde-Dahl, Tobias, Dupuy, Bertt Myhre, Jonassen, Reidun, Winberg, Jan-Olof, Anton-Lamprecht, Ingrun, Olalsen, Bjomar

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 412 KB

english, 1994

26

Characterization of a new member of the human /-adaptin gene family from chromosome 22q12, a candidate meningioma gene

Peyrard, Myriam, Fransson, Ingegerd, Xie, Ya-Gang, Han, Fei-Yu, H.Ruttledge, Martin, Swahn, Sofie, Colllns, John E., Dunham, Ian, Collins, V.Peter, P.Dumanski, Jan

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 4.45 MB

english, 1994

27

A novel mutation (M1V) in the translation initiation codon of the cystic fibrosis transmembrane conductance regulator gene, in three CF chromosomes of Italian origin

Cheadle, Jeremy P., Belloni, Elena, Ferrari, Maurizio, Millar-Jones, Lynne, L.Meredith, Alison

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.99 MB

english, 1994

28

Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping

Sheffield, Val C., Carml, Rivka, Kwltek-Black, Anne, Rokhlina, Tatiana, Nishlmura, Darryl, Duyk, Geoffrey M., Elbedour, Khalil, Sunden, Sara L., Stone, Edwin M.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 2.05 MB

english, 1994

29

A calcium channel mutation causing hypokalemic periodic paralysis

Jurkat-Rott, Karln, Lehmann-Horn, Frank, Elbaz, Alexis, Heine, Roland, Gregg, Ronald G., Hogan, Kirk, Powers, Patricia A., Laple, Pascale, Vale-Santos, José E., Weissenbach, Jean, Fontaine, Bertrand

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.95 MB

english, 1994

30

Complete mtDNA sequence of a patient in a maternal pedigree with sensorineruar deatiness

M.Reld, Fiona, A.Vernham, Guy, T.Jacobs, Howard

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 120 KB

english, 1994

31

Mutations in the type IV collagen α3 (COL4A3) gene in autosomal recessive Alport syndrome

Lemmink, Henny H., MochlzukJ, Toshlo, van den Heuvel, Lambertus P.W.J., Schröder, Cornells H., Barrientos, Alberto, Monnens, Leo A.H., van Oost, Bernard A., Brunner, Han G., Reeders, Stephen T., Smeet

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.80 MB

english, 1994

32

Released chromatin: linearized DNA for high resolution fluorescence in situ hybridization

Senger, Gabriele, A.Jones, Tania, Fldlerová, Helena, Sanséau, Philippe, Trowsdale, John, Duff, Michael, Sheer, Denise

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 4.31 MB

english, 1994

33

Double crossover in the human Xp/Yp pseudoautosomal region and its bearing on interference

Rappold, Gudrun A., Klink, Albrecht, Weiss, Blrglt, Fischer, Christine

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.69 MB

english, 1994

34

Ddel polymorphism in the AGTR1 gene

Doria, A., Ji, L., Warram, J.H., Krolewski, A.S.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 96 KB

english, 1994

35

Two dinucleotide repeat polymorphisms at 17p13

Stack, M., Crichton, D., Santibanez-Koref, M.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 101 KB

english, 1994

36

Dinucleotide repeat polymorphism within the choroideremia gene at Xq21.2

Bokhoven, H.van, Genderen, C.van, Ropers, H.-H., Cremers, F.P.M.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 53 KB

english, 1994

37

An Rsa\ polymorphism for the fibrillin gene (FBN1)

BIack, C.M., Wrthers, A.P., Boxer, M.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 103 KB

english, 1994

38

Apo-dystrophin-1 and apo-dystrophin-2, products of the Duchenne muscular dystrophy locus: expression during mouse embryogenesis and in cultured cell lines

J.Blake, Julian N.Schofield, Derek, Simmons, Catherine, E.Morris, Glenn, M.TInsley, Jonathon, Davies, Kay E., Edwards, Yvonne H.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 8.73 MB

english, 1994

39

Angelman syndrome associated with a maternal 15q11–13 deletion of less than 200 kb

Buxton, Jessica L., Chan, Chi-tsung J., Gilbert, Helen, Clayton-Smith, Jill, Burn, John, Pembrey, Marcus, Malcolm, Susan

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.90 MB

english, 1994

40

A 7 bp deletion of the RET proto-oncogene in familial Hirschsprung‘s disease

Attle, Tanla, Pelet, Anna, Sarda, Pierre, Eng, Chads, Edery, Patrick, Mulligan, Lois M., Ponder, Bruce A.J., Munnich, Arnold, Lyonnet, Stanislas

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 3.54 MB

english, 1994

41

Sequence, expression and characterization of HPRT Moose Jaw : a point mutation resulting in cooperativity and decreased substrate affinities

Lightfoot, Therese, Lewkonla, Raymond M., Snyder, Floyd F.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.87 MB

english, 1994

42

Identification of a new mutation at codon 171 of rhodopsin gene causing autosomal dominant retinitis pigmentosa

Antiolo, Guillermo, Sánchez, Beatriz, Borrego, Salud, Rueda, Trinidad, Chaparro, Pedro, Cabeza, Juan C.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 101 KB

english, 1994

43

Isolation of a diverged homeobox gene, M0X1, from the BRCA1 region on 17q21 by solution hybrid capture

Futreal, P.Andrew, Cochran, Charles, Rosenthal, Judith, Miki, Yoshlo, Swenson, Jeff, Hobbs, Maurine, Bennett, L.Michelle, Haugen-Strano, Astrid, Marks, Jeff, Barrett, J.Carl, Tavtlglan, Sean V., Shatt

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 3.98 MB

english, 1994

44

Cloning and characterization of human and mouse homologs of the Drosophila calcium-activated potassium channel gene, slowpoke

Pallanck, Leo, Ganetzky, Barry

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 3.95 MB

english, 1994

45

Early embryonic failure associated with uniparental disomy for human chromosome 21

Henderson, Deborah J., Sherman, Lisa S., C.Loughna, Slobhan, R.Bennett, Phillip, E.Moore, Gudrun

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.57 MB

english, 1994

46

Somatic and MEN 2A de novo mutations identified in the RET proto-oncogene by screening of sporadic MTC: s

Zedenlus, Jan, Wallin, Goran, Hamberger, Berth, Nordenskjöld, Magnus, Weber, Günther, Larsson, Catharina

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 2.81 MB

english, 1994

47

A (GA) n repeat polymorphism in the human protamine 2 (PRM 2) gene

Schnūlle, V., Schlicker, Mike, Engel, Wolfgang

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 102 KB

english, 1994

48

Dissecting the centromere of the human Y chromosome with cloned telomeric DNA

Brown, K.E., Barnett, M.A., Burgtorf, C., Shaw, P., Buckle, V.J., Brown, W.R.A.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 7.83 MB

english, 1994

49

What's in a spot?

Houseal, Timothy W., Klinger, Katherine W.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.95 MB

english, 1994

50

SSCP at the HTR1DA locus

Kasapi, M., Holik, John, Shah, Meeta, Hoff, Mark, Coon, Hilary, Byerley, William

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 96 KB

english, 1994

51

Dinucleotide repeat polymorphism at the CHRND locus

Landa, B.L., Reynolds, J.E., Beeson, David, Diehl, S.R.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 102 KB

english, 1994

52

A novel nonsense mutation in the HMG box of the SRY gene in a patient with XY sex reversal

lida, Taku, Nakahori, Yutaka, Komaki, Rie, Mori, Eri, Hayashi, Nobuyoshi, Tsutsumi, Osamu, Taketani, Yuji, Nakagome, Yasuo

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.64 MB

english, 1994

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