Volume 96; Issue 5

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Human Genetics
Volume 96; Issue 5

Human Genetics

Volume 96; Issue 5

1

Paracentric inversions: a review

Journal:

Year:

1995

Language:

english

File:

PDF, 1.12 MB

english, 1995

2

Susceptibility of heterochromatin to aphidicolin-induced chromosomal breakage

Ana M. Dominguez, Steven A. Smith, Ira F. Greenbaum

Journal:

Year:

1995

Language:

english

File:

PDF, 514 KB

english, 1995

3

Evaluation of G-to-A substitution in the apolipoprotein A-I gene promoter as a determinant of high-density lipoprotein cholesterol level in subjects with and without cholesteryl ester transfer protein deficiency

Harukuni Akita, Hitoshi Chiba, Masahiro Tsuji, Shu-Ping Hui, Yukihiro Takahashi, Kazuhiko Matsuno, Kunihiko Kobayashi

Journal:

Year:

1995

Language:

english

File:

PDF, 580 KB

english, 1995

4

Interaction between ABO blood groups and ADA genetic polymorphism during intrauterine life

Nazzareno Lucarini, Maria Nicotra, Fulvia Gloria-Bottini, Paola Borgiani, Ada Amante, Claudia Muttinelli, Federica Signoretti, Mauro Torre, Egidio Bottini

Journal:

Year:

1995

Language:

english

File:

PDF, 498 KB

english, 1995

5

A 100-kb physical and transcriptional map around the EDH17B2 gene: identification of three novel genes and a pseudogene of a human homologue of the rat PRL-1 tyrosine phosphatase

Marco Montagna, Olga Serova, Bakary S. Sylla, Jean Feunteun, Gilbert M. Lenoir

Journal:

Year:

1995

Language:

english

File:

PDF, 813 KB

english, 1995

6

Complement component C3: molecular basis of the C3*S025 variant and evidence for molecular heterogeneity of other variants

Thomas Höhler, Marina Botto, Christian Rittner, Peter M. Schneider, Karl-Hermann Meyer zum Büschenfelde

Journal:

Year:

1995

Language:

english

File:

PDF, 401 KB

english, 1995

7

Neonatal screening for cystic fibrosis: result of a pilot study using both immunoreactive trypsinogen and cystic fibrosis gene mutation analyses

C. Férec, C. Verlingue, P. Parent, J. F. Morin, J. P. Codet, G. Rault, M. Dagorne, A. Lemoigne, H. Journel, M. Roussey, B. Marec, M. Catheline, M. P. Audrézet, B. Mercier

Journal:

Year:

1995

Language:

english

File:

PDF, 700 KB

english, 1995

8

A splicing mutation, a nonsense mutation (Y167X) and two missense mutations (I159T and A209V) in Spanish patients with ornithine transcarbamylase deficiency

Miguel Angel García-Pérez, Pablo Sanjurjo, Paz Briones, María José García-Muñoz, Vicente Rubio

Journal:

Year:

1995

Language:

english

File:

PDF, 456 KB

english, 1995

9

Influence of transcription and replication on the in situ resolution of immunoglobulin heavy-chain constant region genes: an interphase cytogenetics analysis

Margarida Telhada, Célia Carvalho, Maria Carmo-Fonseca, Leonor Parreira

Journal:

Year:

1995

Language:

english

File:

PDF, 3.72 MB

english, 1995

10

DNA, FISH and complementation studies in ICF syndrome: DNA hypomethylation of repetitive and single copy loci and evidence for a trans acting factor

Simone Schuffenhauer, Oliver Bartsch, Markus Stumm, Tina Buchholz, Theoni Petropoulou, Sabine Kraft, Bernd Belohradsky, Georg Hinkel, Thomas Meitinger, Rolf-Dieter Wegner

Journal:

Year:

1995

Language:

english

File:

PDF, 3.64 MB

english, 1995

11

Asynchronous DNA replication between 15q11.2q12 homologs: cytogenetic evidence for maternal imprinting and delayed replication

M. S. Lin, A. Zhang, A. Fujimoto

Journal:

Year:

1995

Language:

english

File:

PDF, 780 KB

english, 1995

12

Direct molecular analysis of the fragile X syndrome in a sample of Egyptian and German patients using non-radioactive PCR and Southern blot followed by chemiluminescent detection

Alice Abd El-Aleem, Ingolf Böhm, Samia Temtamy, Mostafa El-Awady, Mohamed Awadalla, Jörg Schmidtke, Manfred Stuhrmann

Journal:

Year:

1995

Language:

english

File:

PDF, 902 KB

english, 1995

13

A de novo satellited short arm of the Y chromosome possibly resulting from an unstable translocation

Chen-Li Lin, Lisa Gibson, Barbara Pober, Teresa L. Yang-Feng

Journal:

Year:

1995

Language:

english

File:

PDF, 838 KB

english, 1995

14

A sublocus of the multicopy microsatellite marker CMS1 maps proximal to spinal muscular atrophy (SMA) as shown by recombinant analysis

Gerrit Steege, Jan-Maarten Cobben, Jan Osinga, Hans Scheffer, Gert-Jan B. Ommen, Charles H. C. M. Buys

Journal:

Year:

1995

Language:

english

File:

PDF, 460 KB

english, 1995

15

Refined mapping of the psoriasin gene S100A7 to chromosome 1cen-q21

Anders D. Børglum, Tracey Flint, Peder Madsen, Julio E. Celis, Torben A. Kruse

Journal:

Year:

1995

Language:

english

File:

PDF, 586 KB

english, 1995

16

Association of apolipoprotein E but not B with Alzheimer's disease

S. E. Poduslo, D. Riggs, J. Schwankhaus, A. Osborne, F. Crawford, M. Mullan

Journal:

Year:

1995

Language:

english

File:

PDF, 323 KB

english, 1995

17

A nonsense mutation in the cytochrome P450 CYP2D6 gene identified in a Caucasian with an enzyme deficiency

F. Broly, D. Marez, J.-M. Guidice, N. Sabbagh, M. Legrand, P. Boone, U. A. Meyer

Journal:

Year:

1995

Language:

english

File:

PDF, 375 KB

english, 1995

18

Familial hemiplegic migraine locus on 19p13 is involved in the common forms of migraine with and without aura

Arne May, Roel A. Ophoff, Gisela M. Terwindt, Christine Urban, Ronald Eijk, Joost Haan, H. Christoph Diener, Dick Lindhout, Rune R. Frants, Lodewijk A. Sandkuijl, Michel D. Ferrari

Journal:

Year:

1995

Language:

english

File:

PDF, 413 KB

english, 1995

19

Protein-tyrosine phosphatase SH-PTP2 (PTPN11) is localized to 12q24.1–24.3

Ute Dechert, Alessandra M. V. Duncan, Lison Bastien, Catherine Duff, Mohammed Adam, Frank R. Jirik

Journal:

Year:

1995

Language:

english

File:

PDF, 624 KB

english, 1995

20

Human cDNA encoding the muscle isoform of the phosphorylase kinase γ subunit (PHKG1)

Michael Wehner, Manfred W. Kilimann

Journal:

Year:

1995

Language:

english

File:

PDF, 255 KB

english, 1995

21

Single-cell PCR performed with neurofibroma Schwann cells reveals the presence of both alleles of the neurofibromatosis type 1 (NF1) gene

Markus Stark, Günter Assum, Winfrid Krone

Journal:

Year:

1995

Language:

english

File:

PDF, 560 KB

english, 1995

22

Huntington's disease in a Sudanese family from Khartoum

E. M. Scrimgeour, Y. Samman, D. J. H. Brock

Journal:

Year:

1995

Language:

english

File:

PDF, 125 KB

english, 1995

23

Lack of aBglII site at the 5′ region of the PGK 1 locus: a new variant discovered in two Chibchan Amerindian groups from Costa Rica

Jorge Azofeifa, Ramiro Barrantes, Marion Cremer

Journal:

Year:

1995

Language:

english

File:

PDF, 158 KB

english, 1995

24

Announcements

Journal:

Year:

1995

File:

PDF, 16 KB

1995