Volume 95; Issue 3

Main
Human Genetics
Volume 95; Issue 3

Human Genetics

Volume 95; Issue 3

1

Identifying chromosomal fragile sites from individuals: a multinomial statistical model

Udo Böhm, P. Frederick Dahm, Bryant F. McAllister, Ira F. Greenbaum

Journal:

Year:

1995

Language:

english

File:

PDF, 770 KB

english, 1995

2

Mucopolysaccharidosis IVA: polymorphic haplotypes and informative RFLPs in the Japanese population

Hideki Iwata, Shunji Tomatsu, Seiji Fukuda, Atsushi Uchiyama, G. M. M. Rezvi, Tatsuya Ogawa, Toshinori Hori, Yoshihiro Nakashima, Atsushi Yamagishi, Kazuko Sukegawa, Nobuyuki Shimozawa, Yasuyuki Suzuk

Journal:

Year:

1995

Language:

english

File:

PDF, 1.10 MB

english, 1995

3

Chromosomal localization of the human NF-E2 family of bZIP transcription factors by fluorescence in situ hybridization

Jefferson Y. Chan, Mei-Chi Cheung, Paolo Moi, Kaiman Chan, Yuet Wai Kan

Journal:

Year:

1995

Language:

english

File:

PDF, 1.98 MB

english, 1995

4

Somatic expansion of the (CAG)nrepeat in Huntington disease brains

Karien E. Rooij, Pia A. M. Koning Gans, Raymund A. C. Roos, Gert-Jan B. Ommen, Johan T. Dunnen

Journal:

Year:

1995

Language:

english

File:

PDF, 732 KB

english, 1995

5

Sequence polymorphism in kringle IV 37 in linkage disequilibrium with the apolipoprotein (a) size polymorphism

H. G. Kraft, C. Haibach, A. Lingenhel, C. Brunner, M. Trommsdorff, F. Kronenberg, H. J. Müller, G. Utermann

Journal:

Year:

1995

Language:

english

File:

PDF, 1.12 MB

english, 1995

6

Deletion mapping of stature determinants on the long arm of the Y chromosome

Pia Salo, Helena Kääriäinen, David C. Page, Albert Chapelle

Journal:

Year:

1995

Language:

english

File:

PDF, 360 KB

english, 1995

7

Analysis of pericentromeric chromosome 21 specific YAC clones by FISH: Identification of new markers for molecular-cytogenetic application

Yuri B. Yurov, Anne-Marie Laurent, Bertrand Marcais, Svetlana G. Vorsanova, Gerard Roizes

Journal:

Year:

1995

Language:

english

File:

PDF, 2.33 MB

english, 1995

8

Interphase cytogenetics on paraffin-embedded sections of ovary for detection of genomic constitution in a patient with Turner's syndrome and chromosomal mosaicism

Angelina Z. Novak, George K. Kokai, Vera P. Popovic, Milena D. Ludoski, Vladimir A. Jurukovski

Journal:

Year:

1995

Language:

english

File:

PDF, 2.21 MB

english, 1995

9

Analysis of a whole arm translocation between chromosomes 18 and 20 using fluorescence in situ hybridization: detection of a break in the centromeric α-satellite sequences

Zeynep Tümer, Anna Berg, Margareta Mikkelsen

Journal:

Year:

1995

Language:

english

File:

PDF, 1.47 MB

english, 1995

10

The breakpoint on 7p in a patient with t(6;7) and craniosynostosis is spanned by a YAC clone containing the D7S503 locus

Kazushiro Tsuji, Kouji Narahara, Yuji Yokoyama, Karl-Heinz Grzeschik, Jürgen Kunz

Journal:

Year:

1995

Language:

english

File:

PDF, 1.12 MB

english, 1995

11

Transthyretin Ser 6 gene frequency in individuals without amyloidosis

Daniel R. Jacobson, Isabel L. Alves, Maria João Saraiva, Stephen N. Thibodeau, Joel N. Buxbaum

Journal:

Year:

1995

Language:

english

File:

PDF, 529 KB

english, 1995

12

Elongated CAG repeats of the B37 gene in a Danish family with dentato-rubro-pallido-luysian atrophy

A. Nørremølle, J. E. Nielsen, S. A. Sørensen, L. Hasholt

Journal:

Year:

1995

Language:

english

File:

PDF, 684 KB

english, 1995

13

Variability of the immunoglobulin heavy chain constant region locus: a population study

Alfredo Brusco, Umberto Cariota, Andrea Bottaro, Cleide Boccazzi, Alessandro Plebani, Alberto G. Ugazio, Renzo Galanello, Maria G. Guerra, Angelo O. Carbonara

Journal:

Year:

1995

Language:

english

File:

PDF, 1.24 MB

english, 1995

14

Asp187Asn mutation of gelsolin in an American kindred with familial amyloidosis, Finnish type (FAP IV)

Robert D. Steiner, James P. Evans, Tiina Paunio, Tomoyuki Uemichi, Merrill D. Benson

Journal:

Year:

1995

Language:

english

File:

PDF, 542 KB

english, 1995

15

Clinical characteristics of 16 cystic fibrosis patients with the missense mutation R334W, a pancreatic insufficiency mutation with variable age of onset and interfamilial clinical differences

X. Estivill, R. Llevadot, J. Giménez, V. Nunes, T. Casals, L. Ortigosa, J. Pérez-Frias, J. Dapena, J. Ferrer, J. Peña, L. Peña, N. Cobos, C. Vázquez

Journal:

Year:

1995

Language:

english

File:

PDF, 547 KB

english, 1995

16

An inactive cytochrome P450CYP2D6allele containing a deletion and a base substitution

Ann K. Daly, Julian B. S. Leathart, Jeffrey R. Idle, Stephanie J. London

Journal:

Year:

1995

Language:

english

File:

PDF, 429 KB

english, 1995

17

Refinement of the X-linked cleft palate and ankyloglossia (CPX) localisation by genetic mapping in an Icelandic kindred

S. A. Forbes, M. Richardson, L. Brennan, G. Moore, P. Stanier, A. Arnason, A. Bjornsson, L. Campbell

Journal:

Year:

1995

Language:

english

File:

PDF, 518 KB

english, 1995

18

Somatic mutations in the neurofibromatosis type 2 gene in sporadic meningiomas

Laura Papi, Lucia Rosaria Vitis, Francesca Vitelli, Enrico Montali, Umberto Bigozzi, Franco Ammannati, Pasquale Mennonna

Journal:

Year:

1995

Language:

english

File:

PDF, 574 KB

english, 1995

19

Population study of a sequence polymorphism in intron 2 of the human β-globin gene

A. Braun, H. Ambach, A. A. Roscher, R. Bichlmaier, S. Kammerer

Journal:

Year:

1995

Language:

english

File:

PDF, 127 KB

english, 1995

20

Linkage disequilibrium between aSacI restriction fragment length polymorphism and two galactosemia mutations

Hsien-Chin Lin, Juergen K. V. Reichardt

Journal:

Year:

1995

Language:

english

File:

PDF, 333 KB

english, 1995

21

Localization of the human soluble epoxide hydrolase gene (EPHX2) to chromosomal region 8p21-p12

Catharina Larsson, Irene White, Charlotte Johansson, Annika Stark, Johan Meijer

Journal:

Year:

1995

Language:

english

File:

PDF, 412 KB

english, 1995

22

SpαI/65hereditary elliptocytosis in Calabria (southern Italy)

A. Qualtieri, M. G. Bisconte, A. Pasqua, M. Bria, C. Brancati

Journal:

Year:

1995

Language:

english

File:

PDF, 423 KB

english, 1995

23

A new restriction-site polymorphism in exon 18 of the low density lipoprotein receptor (LDLR) gene

David H. Kass, Mark A. Batzer, Prescott L. Deininger

Journal:

Year:

1995

Language:

english

File:

PDF, 205 KB

english, 1995

24

ATaqI polymorphism in the human erythroid β spectrin gene

L. Beeton, J. T. Prchal, T. L. Coetzer

Journal:

Year:

1995

Language:

english

File:

PDF, 113 KB

english, 1995

25

Identification of two highly polymorphic CA-repeats (D21S1224 and D21S1261) on human chromosome 21q22.3

Assumpció Bosch, Jordi Guimerà, Stefan Wiemann, Wilhelm Ansorge, David Patterson, Xavier Estivill

Journal:

Year:

1995

Language:

english

File:

PDF, 334 KB

english, 1995

26

Announcements

Journal:

Year:

1995

Language:

english

File:

PDF, 133 KB

english, 1995