Volume 95; Issue 5

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Human Genetics
Volume 95; Issue 5

Human Genetics

Volume 95; Issue 5

1

22q11 deletions in isolated and syndromic patients with tetralogy of Fallot

Francesca Amati, Aldo Mari, Maria Cristina Digilio, Rita Mingarelli, Bruno Marino, Aldo Giannotti, Giuseppe Novelli, Bruno Dallapiccola

Journal:

Year:

1995

Language:

english

File:

PDF, 413 KB

english, 1995

2

Towards fully automated genotyping: use of an X linked recessive spastic paraplegia family to test alternative analysis methods

Hisashi Kobayashi, Tara Cox Matise, Mark W. Perlin, Harold G. Marks, Eric P. Hoffman

Journal:

Year:

1995

Language:

english

File:

PDF, 836 KB

english, 1995

3

Homozygosity for a splice junction mutation in exon 8 of the gene encoding lysosomal acid lipase in a Spanish kindred with cholesterol ester storage disease (CESD)

Sandro Muntoni, Heiko Wiebusch, Harald Funke, Emilio Ros, Udo Seedorf, Gerd Assmann

Journal:

Year:

1995

Language:

english

File:

PDF, 438 KB

english, 1995

4

Molecular analysis redefines three human chromosome 14 deletions

Richard F. Wintle, Teresa Costa, Robert H. A. Haslam, Ikuko E. Teshima, Diane W. Cox

Journal:

Year:

1995

Language:

english

File:

PDF, 609 KB

english, 1995

5

Molecular patterns and sequence polymorphisms in the red and green visual pigment genes of Japanese men

Samir S. Deeb, Angeles Alvarez, Mari Malkki, Arno G. Motulsky

Journal:

Year:

1995

Language:

english

File:

PDF, 523 KB

english, 1995

6

Characterization of mutants of the vitamin D-binding protein/group-specific component: molecular evolution of GC1A2 and GC1A3, common in some Asian populations

I. Yuasa, A. Kofler, A. Braun, K. Umetsu, R. Bichlmaier, S. Kammerer, H. Cleve

Journal:

Year:

1995

Language:

english

File:

PDF, 538 KB

english, 1995

7

Genomic organization of human complement protein C8α and further examination of its linkage to C8β

Gregory A. Michelotti, James V. Snider, James M. Sodetz

Journal:

Year:

1995

Language:

english

File:

PDF, 562 KB

english, 1995

8

Double autosomal/gonosomal mosaic aneuploidy: study of nondisjunction in two cases with trisomy of chromosome 8

Daniele DeBrasi, Maurizio Genuardi, Antonio D'Agostino, Fabrizio Calvieri, Carla Tozzi, Stelio Varrone, Giovanni Neri

Journal:

Year:

1995

Language:

english

File:

PDF, 647 KB

english, 1995

9

Age at diagnosis as an indicator of eligibility for BRCA1 DNA testing in familial breast cancer

Antonino Giambona, Pina Lo Gioco, Marisa Marino, Ida Abate, Rosalba Marzo, Mariella Renda, Francesca Trapani, Francesca Messana, Salvo Siciliano, Paolo Rigano, Farid F. Chehab, Haig H. Kazazian, Aurel

Journal:

Year:

1995

Language:

english

File:

PDF, 416 KB

english, 1995

10

Detection of mutations in ectopic factor VIII transcripts from nine haemophilia A patients and the correlation with phenotype

Sanjay I. Bidichandani, W. George Lanyon, Caroline Shiach, R. Shiach, Gordon D. O. Lowe, J. Michael Connor

Journal:

Year:

1995

Language:

english

File:

PDF, 765 KB

english, 1995

11

Age at diagnosis as an indicator of eligibility for BRCA1 DNA testing in familial breast cancer

R. S. Cornells, H. F. A. Vasen, H. Meijers-Heijboer, D. Ford, M. Vliet, A. A. G. Tilborg, F. J. Cleton, J. G. M. Klijn, F. H. Menko, P. Meera Khan, C. J. Cornelisse, P. Devilee

Journal:

Year:

1995

Language:

english

File:

PDF, 466 KB

english, 1995

12

Linkage analysis of 26 Canadian breast and breast-ovarian cancer families

Patricia Tonin, Roxanna Moslehi, Roger Green, Barry Rosen, David Cole, Norman Boyd, Corey Cutler, Richard Margolese, Ronald Carter, Barbara McGillivray, Elizabeth Ives, Fernand Labrie, Dawna Gilchrist

Journal:

Year:

1995

Language:

english

File:

PDF, 424 KB

english, 1995

13

Von Hippel-Lindau (VHL) disease with pheochromocytoma in the Black Forest region of Germany: evidence for a founder effect

Hiltrud Brauch, Takeshi Kishida, Damjan Glavac, Fan Chen, Friederike Pausch, Heinz Höfler, Farida Latif, Michael I. Lerman, Berton Zbar, Hartmut Neumann

Journal:

Year:

1995

Language:

english

File:

PDF, 558 KB

english, 1995

14

α-Galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteins

Toshika Okumiya, Satoshi Ishii, Ryoichi Kase, Sachiko Kamei, Hitoshi Sakuraba, Yoshiyuki Suzuki

Journal:

Year:

1995

Language:

english

File:

PDF, 465 KB

english, 1995

15

DNA diagnosis of Prader-Willi and Angelman syndromes with the probe PW71 (D15S63)

Ans M. W. Ouweland, Mieke N. Est, Eveline Wesby-van Swaay, Ton S. L. N. Tijmensen, Frans J. Los, Jan O. Hemel, Raoul C. M. Hennekam, Hanne J. Meijers-Heijboer, Martinus F. Niermeijer, Dicky J. J. Hall

Journal:

Year:

1995

Language:

english

File:

PDF, 611 KB

english, 1995

16

A molecular and cytogenetic study in Finnish Prader-Willi patients

Hannaleena Kokkonen, Marketta Kähkönen, Jaakko Leisti

Journal:

Year:

1995

Language:

english

File:

PDF, 424 KB

english, 1995

17

Eleven novel mutations in the NF2 tumour suppressor gene

David Bourn, Gareth Evans, Susan Mason, Selahaddin Tekes, Lisa Trueman, Tom Strachan

Journal:

Year:

1995

Language:

english

File:

PDF, 264 KB

english, 1995

18

Number and sex of offspring of ΔF508 carriers outside cystic fibrosis families

H. G. de Vries, J. M. Collée, W. P. Meeuwsen, H. Scheffer, L. P. Ten Kate

Journal:

Year:

1995

Language:

english

File:

PDF, 94 KB

english, 1995

19

Refinement of the locus for X-linked recessive chondrodysplasia punctata

Koji Muroya, Tsutomu Ogata, Gudrun Rappold, Albrecht Klink, Yutaka Nakahori, Yoshimitsu Fukushima, Katsuya Aizu, Nobutake Matsuo

Journal:

Year:

1995

Language:

english

File:

PDF, 317 KB

english, 1995

20

Association between X-linked hypophosphatemic rickets and Klinefelter's syndrome: effects on growth and body proportion

G. I. Baroncelli, S. Bertelloni, G. Perri, G. Saggese

Journal:

Year:

1995

Language:

english

File:

PDF, 587 KB

english, 1995

21

No linkage to the 3β-HSD gene cluster in a kindred affected with 3β-hydroxy-Δ5-C27steroid dehydrogenase deficiency and early onset hepatic failure

Alan Russell, Hisham Nazer, Ali Shams, Jan Sjövall, Roger Sutcliffe

Journal:

Year:

1995

Language:

english

File:

PDF, 239 KB

english, 1995

22

A highly informative dinucleotide repeat polymorphism at D13S201, between RB1 and WND

R. F. Kooy, E. Verlind, A. Wijngaard, H. Scheffer, C. H. C. M. Buys, D. N. Shapiro

Journal:

Year:

1995

Language:

english

File:

PDF, 82 KB

english, 1995

23

Identification of variable length polyadenosine tract at the dystrophin locus

Sylvie Tuffery, Philippe Moine, Jacques Demaille, Mireille Claustres

Journal:

Year:

1995

Language:

english

File:

PDF, 249 KB

english, 1995

24

Tetra-/di-nucleotide repeat polymorphism upstream of the human α2-globin gene locus at 16p13.3

Alexandros Argyrokastritis, Nicholas K. Moschonas

Journal:

Year:

1995

Language:

english

File:

PDF, 82 KB

english, 1995

25

Intragenic TaqI restriction fragment length polymorphism (RFLP) in CICN4, between the loci for X linked ocular albinism (OA1) and microphthalmia with linear skin defects syndrome (MLS)

R. E. Schnur, P. A. Wick

Journal:

Year:

1995

Language:

english

File:

PDF, 109 KB

english, 1995

26

Characterisation of three microsatellite polymorphisms (D21S1262, D21S1419 and D21S1421) from band 21q22.1

Assumpció Bosch, Jordi Guimerà, David Patterson, Xavier Estivill

Journal:

Year:

1995

Language:

english

File:

PDF, 217 KB

english, 1995

27

A new biallelic DNA polymorphism of the human COL5A1 gene

Francesca Cappa, Gianluca Caridi, Giorgio Gimelli, Gian Marco Ghiggeri

Journal:

Year:

1995

Language:

english

File:

PDF, 97 KB

english, 1995

28

Dinucleotide repeat polymorphism at the D4S2458 locus close to the PKD2 locus on human chromosome 4q

Miguel Viribay, Dolores Tellería, Eladio Velasco, Felipe Moreno, José L. San Millán

Journal:

Year:

1995

Language:

english

File:

PDF, 96 KB

english, 1995

29

A new polymorphism in the gene for the dopamine D2 receptor

S. E. Poduslo, J. Schwankhaus

Journal:

Year:

1995

Language:

english

File:

PDF, 136 KB

english, 1995

30

Polymorphisms of the Prion Protein gene in italian patients with Creutzfeldt-Jakob disease

Mirella Salvatore, Maurizio Genuardi, Rosella Petraroli, Carlo Masullo, Marc D'Alessandro, Maurizio Pocchiari

Journal:

Year:

1995

Language:

english

File:

PDF, 31 KB

english, 1995

31

Announcements

Journal:

Year:

1995

Language:

english

File:

PDF, 105 KB

english, 1995

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