Volume 92; Issue 2

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Human Genetics
Volume 92; Issue 2

Human Genetics

Volume 92; Issue 2

1

The phenylketonuria G272X haplotype 7 mutation in European populations

Jaran Apold, Hans G. Eiken, Elisabeth Svensson, Erich Kunert, Libor Kozak, Petr Cechak, Flemming Güttler, Jacques Giltay, Uta Lichter-Konecki, Dominique Melle, Jadwiga Maria Jaruzelska

Journal:

Year:

1993

Language:

english

File:

PDF, 265 KB

english, 1993

2

Mucopolysaccharidosis type II (Hunter disease): 13 gene mutations in 52 Japanese patients and carrier detection in four families

Yukiji Yamada, Shunji Tomatsu, Kazuko Sukegawa, Yasuyuki Suzuki, Naomi Kondo, John J. Hopwood, Tadao Orii

Journal:

Year:

1993

Language:

english

File:

PDF, 735 KB

english, 1993

3

Two new polymorphisms in introns 2 and 3 of the human porphobilinogen deaminase gene

Makoto Daimon, Yoshihiro Morita, Keiichi Yamatani, Masahiko Igarashi, Norio Fukase, Hiroshi Ohnuma, Kazuhiko Sugiyama, Atsushi Ogawa, Hideo Manaka, Makoto Tominaga, Hideo Sasaki

Journal:

Year:

1993

Language:

english

File:

PDF, 335 KB

english, 1993

4

A complex chromosomal rearrangement detected prenatally and studied by fluorescence in situ hybridization

Denise A. S. Batista, Cathy M. Tuck-Muller, Jose E. Martinez, William G. Kearns, Peter L. Pearson, Gail Stetten

Journal:

Year:

1993

Language:

english

File:

PDF, 1.16 MB

english, 1993

5

Relation of cardiovascular risk factors to atherosclerosis in type III hyperlipoproteinemia

Giso Feussner, Albrecht Wagner, Reinhard Ziegler

Journal:

Year:

1993

Language:

english

File:

PDF, 445 KB

english, 1993

6

Cytogenetic, FISH and DNA studies in 11 individuals from a family with two siblings with dup(21q) Down syndrome

O. Bartsch, U. König, M. B. Petersen, H. Poulsen, M. Mikkelsen, F. Palau, F. Prieto, E. Schwinger

Journal:

Year:

1993

Language:

english

File:

PDF, 3.50 MB

english, 1993

7

Two novel microsatellite markers for prenatal prediction of spinal muscular atrophy (SMA)

K. E. Morrison, R. J. Daniels, G. K. Suthers, G. A. Flynn, M. J. Francis, P. K. Grewal, C. Dennis, V. Buckle, J. Ignatius, V. Dubowitz, K. E. Davies

Journal:

Year:

1993

Language:

english

File:

PDF, 1.02 MB

english, 1993

8

Molecular analysis of G6PD variants in northern Italy: a study on the population from the Ferrara district

Paolino Ninfali, Luciano Baronciani, Annamaria Ruzzo, Cinzia Fortini, Elisa Amadori, Gionni Dall'ara, Mauro Magnani, Ernest Beutler

Journal:

Year:

1993

Language:

english

File:

PDF, 335 KB

english, 1993

9

Prosaposin deficiency: further characterization of the sphingolipid activator protein-deficient sibs

V. Bradová, F. Šmíd, B. Ulrich-Bott, W. Roggendorf, B. C. Paton, K. Harzer

Journal:

Year:

1993

Language:

english

File:

PDF, 2.77 MB

english, 1993

10

Spectrin αIIa variant in dominant and non-dominant spherocytosis

P. Boivin, C. Galand, I. Devaux, M. C. Lecomte, M. Garbarz, D. Dhermy

Journal:

Year:

1993

Language:

english

File:

PDF, 475 KB

english, 1993

11

Restoration of the cholesterol metabolism in 3T3 cell lines derived from the sphingomyelinosis mouse (spm/spm) by transfer of a human chromosome 18

Akihiro Kurimasa, Kousaku Ohno, Mitsuo Oshimura

Journal:

Year:

1993

Language:

english

File:

PDF, 1.37 MB

english, 1993

12

Down syndrome: effects of demographic factors and prenatal diagnosis on the future livebirth prevalence

Martina C. Cornel, Anton S. P. M. Breed, Johan R. Beekhuis, Gerard J. Meerman, Leo P. Kate

Journal:

Year:

1993

Language:

english

File:

PDF, 593 KB

english, 1993

13

Loss of heterozygosity in malignant gliomas involves at least three distinct regions on chromosome 10

A. Elisabeth Karlbom, C. David James, Jürgen Boethius, Webster K. Cavenee, V. Peter Collins, Magnus Nordenskjöld, Catharina Larsson

Journal:

Year:

1993

Language:

english

File:

PDF, 785 KB

english, 1993

14

Exclusively paternal X chromosomes in a girl with short stature

Albert A. Schinzel, Wendy P. Robinson, Franz Binkert, Toni Torresani, Edmond A. Werder

Journal:

Year:

1993

Language:

english

File:

PDF, 410 KB

english, 1993

15

Molecular analysis in patients with mucopolysaccharidosis type II suggests that DXS466 maps within the Hunter gene

Cordula Steglich, Susanna Bunge, Theo Hulsebos, Michael Beck, Niels J. Brandt, Eberhard Schwinger, John J. Hopwood, Andreas Gal

Journal:

Year:

1993

Language:

english

File:

PDF, 682 KB

english, 1993

16

Affinity differences for vitamin D metabolites associated with the genetic isoforms of the human serum carrier protein (DBP)

J. Arnaud, J. Constans

Journal:

Year:

1993

Language:

english

File:

PDF, 494 KB

english, 1993

17

C1-inhibitor gene nucleotide insertion causes type II hereditary angio-oedema

Z. Siddique, A. R. McPhaden, K. Whaley

Journal:

Year:

1993

Language:

english

File:

PDF, 289 KB

english, 1993

18

Polymorphisms of the apolipoprotein B and E genes and their relationship to plasma lipid variables in healthy Chinese men

A. E. Evans, W. Zhang, J. F. R. Moreel, J. M. Bard, S. Ricard, O. Poirier, L. Tiret, J. C. Fruchart, F. Cambien

Journal:

Year:

1993

Language:

english

File:

PDF, 647 KB

english, 1993

19

The human skeletal muscle adenine nucleotide translocator gene maps to chromosome 4q35 in the region of the facioscapulohumeral muscular dystrophy locus

Cisca Wijmenga, Sara T. Winokur, George W. Padberg, Mette I. Skraastad, Michael R. Altherr, John J. Wasmuth, Jeffrey C. Murray, Marten H. Hofker, Rune R. Frants

Journal:

Year:

1993

Language:

english

File:

PDF, 726 KB

english, 1993

20

Presence of fetal cells in maternal circulation after delivery

T'sang-T'ang Hsieh, Chia C. Pao, Jyu Jen Hor, Shu-Min Kao

Journal:

Year:

1993

Language:

english

File:

PDF, 132 KB

english, 1993

21

An Ala/Thr variation in the coding region of the human cystatin C gene (CST3) detected as a SstII polymorphism

Milagros Balbín, Anders Grubb, Magnus Abrahamson

Journal:

Year:

1993

Language:

english

File:

PDF, 157 KB

english, 1993

22

Polymerase chain reaction detection of a novel human KIT (mast/stem cell growth factor receptor) gene polymorphism by single-strand conformation polymorphism analysis or bySmaI orBstNI cleavage

Richard A. Spritz, Stuart A. Holmes

Journal:

Year:

1993

Language:

english

File:

PDF, 289 KB

english, 1993

23

Cytogenetic findings in crossed renal ectopia with pelvic lipomatosis

Journal:

Year:

1993

Language:

english

File:

PDF, 84 KB

english, 1993

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