Volume 91; Issue 5

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Human Genetics
Volume 91; Issue 5

Human Genetics

Volume 91; Issue 5

1

Flow cytometric and cytogenetic analyses in human spontaneous abortions

Raffaele Vita, Alberto Calugi, Delia Cavallo, Patrizia Eleuteri, Antonio Vizzone

Journal:

Year:

1993

Language:

english

File:

PDF, 664 KB

english, 1993

2

Reevaluation of the chromosome 4q candidate region for early onset periodontitis

Thomas C. Hart, Mary L. Marazita, Kimberly M. McCanna, Harvey A. Schenkein, Scott R. Diehl

Journal:

Year:

1993

Language:

english

File:

PDF, 750 KB

english, 1993

3

Analysis of a genetic mutation in an electrophoretic variant of the human lactate dehydrogenase-B(H) subunit

Masato Maekawa, Kayoko Sudo, Masato Kitajima, Yukio Matsuura, Steven S. -L. Li, Takashi Kanno

Journal:

Year:

1993

Language:

english

File:

PDF, 637 KB

english, 1993

4

Fetal nucleated cells in maternal peripheral blood: frequency and relationship to gestational age

Hiromi Hamada, Tadao Arinami, Takeshi Kubo, Hideo Hamaguchi, Hirokazu Iwasaki

Journal:

Year:

1993

Language:

english

File:

PDF, 799 KB

english, 1993

5

Structure and expression analysis of a member of the human glutamate dehydrogenase (GLUD) gene family mapped to chromosome 10p11.2

George Tzimagiorgis, Margaret A. Leversha, Katerina Chroniary, George Goulielmos, Carole A. Sargent, Malcolm Ferguson-Smith, Nicholas K. Moschonas

Journal:

Year:

1993

Language:

english

File:

PDF, 1009 KB

english, 1993

6

SSCP detection of a Gly565Val substitution in the proα(I) collagen chain resulting in osteogenesis imperfecta type II

Katrina Mackay, Allan M. Lund, Michael Raghunath, Beat Steinmann, Raymond Dalgleish

Journal:

Year:

1993

Language:

english

File:

PDF, 934 KB

english, 1993

7

Demographic reductions and genetic bottlenecks in humans: minisatellite allele distributions in oceania

J. J. Martinson, R. M. Harding, G. Philippon, F. Sainte-Marie, J. Roux, A. J. Boyce, J. B. Clegg

Journal:

Year:

1993

Language:

english

File:

PDF, 551 KB

english, 1993

8

Identification of two new nucleotide mutations (HPRTUtrechtand HPRTMadrid) in exon 3 of the human hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene

Anne G. M. Bouwens-Rombouts, Marie-Jose H. Boogaard, Juan G. Puig, Felicitas A. Mateos, Raoul C. M. Hennekam, Marcel G. J. Tilanus

Journal:

Year:

1993

Language:

english

File:

PDF, 664 KB

english, 1993

9

Loss of heterozygosity on chromosome 11p13 in primary bladder carcinoma

R. Shipman, P. Schraml, M. Colombi, G. Raefle, C. U. Ludwig

Journal:

Year:

1993

Language:

english

File:

PDF, 392 KB

english, 1993

10

Increased chromosome fragility in lymphocytes of short normal children treated with recombinant human growth hormone

Bruna Tedeschi, Gian Luigi Spadoni, Maria Lucia Sanna, Patrizia Vernole, Daniela Caporossi, Stefano Cianfarani, Benedetto Nicoletti, Brunetto Boscherini

Journal:

Year:

1993

Language:

english

File:

PDF, 575 KB

english, 1993

11

Inter-ethnic polymorphism of the β-globin gene locus control region (LCR) in sickle-cell anemia patients

Bruno Périchon, Angela Ragusa, Claudine Lapouméroulie, Alain Romand, Paolo Moi, Tohru Ikuta, Dominique Labie, Jacques Elion, Rajagopal Krishnamoorthy

Journal:

Year:

1993

Language:

english

File:

PDF, 612 KB

english, 1993

12

Between-generation differences in ascertainment and penetrance: relevance to genetic hypotheses in fragile X

Danuta Z. Loesch, Leslie J. Sheffield, David A. Hay

Journal:

Year:

1993

Language:

english

File:

PDF, 698 KB

english, 1993

13

The human apolipoprotein B 3′ hypervariable region: detection of eight new alleles and comparisons of allele frequencies in blacks and whites

James E. Hixson, Patricia K. Powers, C. Alex McMahan

Journal:

Year:

1993

Language:

english

File:

PDF, 688 KB

english, 1993

14

Identification of a splice-site mutation in the low density lipoprotein receptor gene by denaturing gradient gel electrophoresis

Bert Top, André Zee, Louis M. Havekes, Ferdinand M. Hooft, Rune R. Frants

Journal:

Year:

1993

Language:

english

File:

PDF, 654 KB

english, 1993

15

Physical mapping in the region of human Xq12-21.1 using pulsed field gel electrophoresis

Alison M. Jones, Sue Malcolm, Roland J. Levinsky, Christine Kinnon

Journal:

Year:

1993

Language:

english

File:

PDF, 365 KB

english, 1993

16

Analysis of human extrachromosomal DNA elements originating from different β-satellite subfamilies

Günter Assum, Thomas Fink, Tanja Steinbeißer, Karl J. Fisel

Journal:

Year:

1993

Language:

english

File:

PDF, 1.22 MB

english, 1993

17

The pattern of spontaneous germ-line mutation: relative rates of mutation at or near CpG dinucleotides in the factor IX gene

Cynthia D. K. Bottema, Rhett P. Ketterling, Erica Vielhaber, Hong-Sup Yoon, Bobbie Gostout, David P. Jacobson, Amy Shapiro, Steve S. Sommer

Journal:

Year:

1993

Language:

english

File:

PDF, 777 KB

english, 1993

18

Physical localisation of the chromosomal marker D13S31 places the Wilson disease locus at the junction of bands q14.3 and q21.1 of chromosome 13

R. Frank Kooy, Anneke Y. Veen, Edwin Verlind, Roderick H. J. Houwen, Hans Scheffer, Charles H. C. M. Buys

Journal:

Year:

1993

Language:

english

File:

PDF, 546 KB

english, 1993

19

Molecular abnormality of G6PD Konan and G6PD Ube, the most common glucose-6-phosphate dehydrogenase variants in Japan

Akira Hirono, Hisaichi Fujii, Shiro Miwa

Journal:

Year:

1993

Language:

english

File:

PDF, 272 KB

english, 1993

20

A new polymorphic restriction site at the human atrial natriuretic peptide (hANP) gene locus

Rajendranath Ramasawmy, Navaratnam Kotea, Changyong Lu, Chalom Sayada, Sooriahnarain Baligadoo, Rajagopal Krishnamoorthy

Journal:

Year:

1993

Language:

english

File:

PDF, 154 KB

english, 1993

21

Two new polymorphisms in the coding sequence of the LDL receptor (LDLR) gene

B. Saint-Jore, N. Loux, C. Junien, C. Boileau

Journal:

Year:

1993

Language:

english

File:

PDF, 190 KB

english, 1993

22

A frequentEcoRI polymorphism in thebcl-2gene

Paolo Ghia, Irma Dianzani, Anna Serra, Claudia Rosso, Federico Caligaris-Cappio

Journal:

Year:

1993

Language:

english

File:

PDF, 93 KB

english, 1993

23

Choroid plexus cysts diagnosed prenatally as an independent risk factor for cytogenetic abnormality

Journal:

Year:

1993

Language:

english

File:

PDF, 94 KB

english, 1993

24

H-Y (SDM) antibody specifically binds Müllerian inhibiting substance

Ulrich Müller, Stephen S. Wachtel, Vikram L. Jaswaney, Ellen H. Goldberg

Journal:

Year:

1993

Language:

english

File:

PDF, 192 KB

english, 1993

25

Hereditary hydronephrosis and the short arm of chromosome 6

J. P. Fryns, A. Kleczkowska, P. Moerman, K. Vandenberghe

Journal:

Year:

1993

Language:

english

File:

PDF, 364 KB

english, 1993

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