Volume 74; Issue 2

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Human Genetics
Volume 74; Issue 2

Human Genetics

Volume 74; Issue 2

1

Xeroderma pigmentosum (complementation group D) mutation is present in patients affected by trichothiodystrophy with photosensitivity

M. Stefanini, P. Lagomarsini, C. F. Arlett, S. Marinoni, C. Borrone, F. Crovato, G. Trevisan, G. Cordone, F. Nuzzo

Journal:

Year:

1986

Language:

english

File:

PDF, 676 KB

english, 1986

2

DNA polymorphism related to the idiopathic hemochromatosis gene: evidence in a recombinant family

Véronique David, Pascale Paul, M. Simon, J. -Y. Gall, Renée Fauchet, Isabelle Gicquel, Isabelle Dugast, Loïc Mignon, Jacqueline Yaouanq, D. Cohen, M. Bourel

Journal:

Year:

1986

Language:

english

File:

PDF, 797 KB

english, 1986

3

The single copy gene coding for human α1 (IV) procollagen is located at the terminal end of the long arm of chromosome 13

C. D. Boyd, Karen Weliky, SuEllen Toth-Fejel, Susan B. Deak, Angela M. Christiano, J. W. Mackenzie, Linda J. Sandell, K. Tryggvason, Ellen Magenis

Journal:

Year:

1986

Language:

english

File:

PDF, 517 KB

english, 1986

4

A 45,X male with a Yp/18 translocation

Emanuela Maserati, F. Waibel, B. Weber, M. Fraccaro, A. Gal, F. Pasquali, W. Schempp, G. Scherer, R. Vaccaro, J. Weissenbach, U. Wolf

Journal:

Year:

1986

Language:

english

File:

PDF, 653 KB

english, 1986

5

Assignment of a human beta-crystallin gene to 17cen-q23

R. S. Sparkes, T. Mohandas, Camilla Heinzmann, M. B. Gorin, Susan Zollman, J. Horwitz

Journal:

Year:

1986

Language:

english

File:

PDF, 371 KB

english, 1986

6

Isolation of transcribed DNA sequences from chromosome 21 using mouse fetal cDNA

Tohru Yokoi, M. Lovett, Zai-Yu Cheng, C. J. Epstein

Journal:

Year:

1986

Language:

english

File:

PDF, 613 KB

english, 1986

7

Wiedemann-Beckwith syndrome: presentation of clinical and cytogenetic data on 22 new cases and review of the literature

M. J. Pettenati, J. L. Haines, R. R. Higgins, R. S. Wappner, C. G. Palmer, D. D. Weaver

Journal:

Year:

1986

Language:

english

File:

PDF, 1.01 MB

english, 1986

8

Regional localisation of X chromosome short arm probes

Karin Paulsen, Susan Forrest, G. Scherer, H. -H. Ropers, Kay Davies

Journal:

Year:

1986

Language:

english

File:

PDF, 617 KB

english, 1986

9

Orosomucoid (ORM) typing by isoelectric focusing: evidence for two structural loci ORM1 and ORM2

I. Yuasa, K. Umetsu, K. Suenaga, M. Robinet-Levy

Journal:

Year:

1986

Language:

english

File:

PDF, 198 KB

english, 1986

10

The same “TATA” box β-thalassemia mutation in Chinese and US blacks: another example of independent origins of mutation

Shangzhi Huang, Corinne Wong, Stylianos E. Antonarakis, Tsai Ro-lien, Wilson H. Y. Lo, Haig H. Kazazian

Journal:

Year:

1986

Language:

english

File:

PDF, 271 KB

english, 1986

11

ApoA-I related DNA polymorphism in humans with coronary heart disease

Monika Buraczynska, Janusz Hanzlik, Marek Grzywa

Journal:

Year:

1986

Language:

english

File:

PDF, 351 KB

english, 1986

12

Genetic linkage between X-linked retinitis pigmentosa and DNA probe DXS7 {L1.28}: further linkage data, heterogeneity testing, and risk estimation

J. F. Clayton, A. F. Wright, Marcelle Jay, Carol M. E. McKeown, Maureen Dempster, B. S. Jay, A. C. Bird, S. S. Bhattacharya

Journal:

Year:

1986

Language:

english

File:

PDF, 439 KB

english, 1986

13

Gene localisation of X-linked hypohidrotic ectodermal dysplasia (C-S-T syndrome)

K. D. MacDermot, R. M. Winter, S. Malcolm

Journal:

Year:

1986

Language:

english

File:

PDF, 203 KB

english, 1986

14

Identity of the polymorphisms for esterase D and S-formylglutathione hydrolase in red blood cells

H. Eiberg, J. Mohr

Journal:

Year:

1986

Language:

english

File:

PDF, 225 KB

english, 1986

15

Evidence that S-formylglutathione hydrolase and esterase D polymorphisms are identical

F. Apeshiotis, K. Bender

Journal:

Year:

1986

Language:

english

File:

PDF, 132 KB

english, 1986

16

Integrity of the thyroglobulin locus in tricho-rhino-phalangeal syndrome II

Huguette Brocas, Erica M. Bühler, P. Simon, Naseem J. Malik, G. Vassart

Journal:

Year:

1986

Language:

english

File:

PDF, 291 KB

english, 1986

17

Estimation of the male to female ratio of mutation rates from the segregation of X-chromosomal DNA haplotypes in Duchenne muscular dystrophy families

C. R. Müller, T. Grimm

Journal:

Year:

1986

Language:

english

File:

PDF, 306 KB

english, 1986

18

Dominant autosomal muscular dystrophy with early contractures and cardiomyopathy (Hauptmann-Thannhauser)

Journal:

Year:

1986

Language:

english

File:

PDF, 89 KB

english, 1986

19

Hypomelanosis of Ito (incontinentia pigmenti achromians) and mosaicism for a microdeletion of 15q1

Catherine Turleau, F. Taillard, Mireille Doussau de Bazignan, Nicole Delépine, J. C. Desbois, J. Grouchy

Journal:

Year:

1986

Language:

english

File:

PDF, 319 KB

english, 1986

20

8q24.12 Interstitial deletion in trichorhinophalangeal syndrome type I

J. P. Fryns, H. Berghe

Journal:

Year:

1986

Language:

english

File:

PDF, 162 KB

english, 1986

21

Deletion 14q(q24.3 to q32.1) syndrome: significance of peculiar facial appearance in its diagnosis, and deletion mapping of (α1-antitrypsin)

Y. Yamamoto, R. Sawa, N. Okamoto, A. Matsui, M. Yanagisawa, S. Ikemoto

Journal:

Year:

1986

Language:

english

File:

PDF, 319 KB

english, 1986

22

De novo DNA microdeletion in a girl with Turner syndrome and Duchenne muscular dystrophy

J. Chelly, F. Marlhens, B. Marec, M. Jeanpierre, M. Lambert, G. Hamard, B. Dutrillaux, J. -C. Kaplan

Journal:

Year:

1986

Language:

english

File:

PDF, 382 KB

english, 1986

23

Paracentric inversions in human chromosome 7

M. Schmid, T. Haaf, M. Zorn

Journal:

Year:

1986

Language:

english

File:

PDF, 310 KB

english, 1986

24

Autosomal dominant macroglossia in two unrelated families

M. C. Reynoso, A. Hernández, F. Soto, O. García-Cruz, R. Martínez y Martínez, J. M. Cantú

Journal:

Year:

1986

Language:

english

File:

PDF, 238 KB

english, 1986

25

Yqs Resulting from a reciprocal Y;15 translocation in the father of a 46,X,i(Xq) girl

A. M. Joseph, M. Jagannath, I. M. Thomas

Journal:

Year:

1986

Language:

english

File:

PDF, 66 KB

english, 1986

26

Polymorphism of 6-PGD in South Korea: a new genetic variant 6-PGD Korea

Heide-G. Benkmann, Y. K. Paik, L. Z. Chen, H. W. Goedde

Journal:

Year:

1986

Language:

english

File:

PDF, 136 KB

english, 1986

27

Di George syndrome and 22q11 rearrangements

S. Augusseau, S. Jouk, P. Jalbert, M. Prieur

Journal:

Year:

1986

Language:

english

File:

PDF, 84 KB

english, 1986

28

Rare, polymorphic, and common fragile sites: a classification

Journal:

Year:

1986

Language:

english

File:

PDF, 231 KB

english, 1986