Volume 93; Issue 4

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Human Genetics
Volume 93; Issue 4

Human Genetics

Volume 93; Issue 4

1

Heterogeneity in the severity of cystic fibrosis and the role of CFTR gene mutations

Michael Dean, George Santis

Journal:

Year:

1994

Language:

english

File:

PDF, 589 KB

english, 1994

2

Neuropsychological and biochemical investigations in heterozygotes for phenylketonuria during ingestion of high dose aspartame (a sweetener containing phenylalanine)

Friedrich Trefz, Leo Sonneville, Peter Matthis, Christian Benninger, Brigitte Lanz-Englert, Horst Bickel

Journal:

Year:

1994

Language:

english

File:

PDF, 615 KB

english, 1994

3

Amplification of (GACA)nsimple repeats in an exceptional 14p+ marker chromosome

M. Schmid, I. Nanda, C. Steinlein, J. T. Epplen

Journal:

Year:

1994

Language:

english

File:

PDF, 2.84 MB

english, 1994

4

Chromosomal localization of human satellites 2 and 3 by a FISH method using oligonucleotides as probes

Ignacio Tagarro, Antonia M. Fernández-Peralta, Juan J. González-Aguilera

Journal:

Year:

1994

Language:

english

File:

PDF, 623 KB

english, 1994

5

SRVX, a sex reversing locus in Xp21.2→p22.11

Pamela Arn, Harold Chen, Cathy M. Tuck-Muller, Carl Mankinen, Gwendolyn Wachtel, Shibo Li, C. -C. Shen, Stephen S. Wachtel

Journal:

Year:

1994

Language:

english

File:

PDF, 717 KB

english, 1994

6

Differential ultrastructural aberrations of collagen fibrils in Ehlers-Danlos syndrome types I–IV as a means of diagnostics and classification

Ingrid Hausser, Ingrun Anton-Lamprecht

Journal:

Year:

1994

Language:

english

File:

PDF, 1.68 MB

english, 1994

7

Pure hereditary spastic paraparesis: an exclusion map covering more than 40% of the autosomal genome

Judith C. T. Deutekom, Richard P. M. Bruyn, Nicolle Boom, Lodewijk A. Sandkuijl, George W. Padberg, Rune R. Frants

Journal:

Year:

1994

Language:

english

File:

PDF, 537 KB

english, 1994

8

Single exon mutation in arylsulfatase A gene has two effects: loss of enzyme activity and aberrant splicing

Yoriyasu Hasegawa, Hiroshi Kawame, Hiroyuki Ida, Toya Ohashi, Yoshikatsu Eto

Journal:

Year:

1994

Language:

english

File:

PDF, 955 KB

english, 1994

9

Incidence of chromosome 18 disomy in human sperm nuclei as detected by nonisotopic in situ hybridization

Martina Guttenbach, Renate Schakowski, Michael Schmid

Journal:

Year:

1994

Language:

english

File:

PDF, 505 KB

english, 1994

10

Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency by allele-specific hybridization and Southern blot

Phyllis W. Speiser, Perrin C. White, Jacob Dupont, Deguang Zhu, Arlene B. Mercado, Maria I. New

Journal:

Year:

1994

Language:

english

File:

PDF, 593 KB

english, 1994

11

Retrospective study of the cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Guthrie cards from a large cohort of neonatal screening for cystic fibrosis

C. Verlingue, B. Mercier, I. Lecoq, M. P. Audrézet, D. Laroche, G. Travert, C. Férec

Journal:

Year:

1994

Language:

english

File:

PDF, 707 KB

english, 1994

12

Direct screening of a mitochondrial DNA deletion valuable for Amerindian evolutionary research

Maria Santos, Ramiro Barrantes

Journal:

Year:

1994

Language:

english

File:

PDF, 266 KB

english, 1994

13

Identification of allele-specific p22-phoxmutations in a compound heterozygous patient with chronic granulomatous disease by mismatch PCR and restriction enzyme analysis

Johann Peter Hossle, Martin Boer, Reinhard A. Seger, Dirk Roos

Journal:

Year:

1994

Language:

english

File:

PDF, 968 KB

english, 1994

14

Unusual genotypes in the COL6A1 gene in parents of children with trisomy 21 and major congenital heart defects

Gail E. Davies, Catherine M. Howard, Mathew J. Farrer, Michelle M. Coleman, Louise M. Cullen, Robert Williamson, Richard K. H. Wyse, Anna M. Kessling

Journal:

Year:

1994

Language:

english

File:

PDF, 424 KB

english, 1994

15

Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish population: 43 mutations account for only 78% of CF chromosomes

Miguel Chillón, Teresa Casals, Javier Giménez, M. Dolores Ramos, Ana Palacio, Nuria Morral, Xavier Estivill, Virginia Nunes

Journal:

Year:

1994

Language:

english

File:

PDF, 518 KB

english, 1994

16

Exclusion mapping of the gene for X-linked neural tube defects in an Icelandic family

F. A. Hol, M. P. A. Geurds, O. Jensson, B. C. J. Hamel, G. E. Moore, R. Newton, E. C. M. Mariman

Journal:

Year:

1994

Language:

english

File:

PDF, 484 KB

english, 1994

17

ASau3A polymorphism in the 5′ end of the IT15 gene that nonrandomly segregates with the Huntington disease trinucleotide expansion

Leon Carlock, Kristin Gutridge, Trieu Vo

Journal:

Year:

1994

Language:

english

File:

PDF, 424 KB

english, 1994

18

Mutational analysis of the amyloid precursor protein gene in Japanese familial Alzheimer's disease kindreds

Hiroto Fujigasaki, Satoshi Naruse, Kiyotoshi Kaneko, Hideto Hirasawa, Shoji Tsuji, Tadashi Miyatake

Journal:

Year:

1994

Language:

english

File:

PDF, 310 KB

english, 1994

19

A patient with an interstitial deletion in Xp22.3 locates the gene for X-linked recessive chondrodysplasia punctata to within a one megabase interval

Albrecht Klink, Alfons Meindl, Heide Hellebrand, Gudrun A. Rappold

Journal:

Year:

1994

Language:

english

File:

PDF, 797 KB

english, 1994

20

Analysis of the whole CFTR coding regions and splice junctions in azoospermic men with congenital bilateral aplasia of epididymis or vas deferens

Jean-Francois Culard, Marie Desgeorges, Pierre Costa, Maguelone Laussel, Gaby Razakatzara, Henri Navratil, Jacques Demaille, Mireille Claustres

Journal:

Year:

1994

Language:

english

File:

PDF, 304 KB

english, 1994

21

Familial unbalanced translocation t(8;15)(p23.3;q11) with uniparental disomy in Angelman syndrome

A. Smith, Z. -M. Deng, R. Beran, T. Woodage, R. J. Trent

Journal:

Year:

1994

Language:

english

File:

PDF, 778 KB

english, 1994

22

PstI identifies biallelic DNA polymorphism of the human casein kinase 2α gene (CSNK2A1)

S. Singh, I. Jantke, M. Simon, I. Meybohm, B. Boldyreff, O. Issinger, H. W. Goedde

Journal:

Year:

1994

Language:

english

File:

PDF, 167 KB

english, 1994

23

Two new polymorphisms in the human elastin gene (ELN)

Mark C. Raybould, Andrew J. Birley, Maj Hulten

Journal:

Year:

1994

Language:

english

File:

PDF, 231 KB

english, 1994

24

Polymorphism of the gene encoding the alpha subunit of the stimulatory G-protein of adenylyl cyclase (GNAS1)

Claire Waltman, Michael A. Levine, William F. Schwindinger, Gary S. Wand

Journal:

Year:

1994

Language:

english

File:

PDF, 179 KB

english, 1994

25

A polymorphic STS in intron 44 of the dystrophin gene

Lau A. J. Blonden, Gisela M. Terwindt, Johan T. Dunnen, Gert-Jan B. Ommen

Journal:

Year:

1994

Language:

english

File:

PDF, 247 KB

english, 1994

26

AnRsaI polymorphism in the transcribed region of the neurofibromatosis (NF1)-gene

Sven Hoffmeyer, Günter Assum

Journal:

Year:

1994

Language:

english

File:

PDF, 113 KB

english, 1994

27

Transferrin types and expression of hereditary hemochromatosis

C. Sikström, B. Ritter, A. Beckman, L. Beckman

Journal:

Year:

1994

Language:

english

File:

PDF, 213 KB

english, 1994

28

Verification of the transthyretin met 111 mutation in familial amyloid cardiomyopathy of Danish origin by DNA sequening

Bjørn-Yngvar Nordvåg, Hilde Monica Frostad Riise, Gunnar Husby

Journal:

Year:

1994

Language:

english

File:

PDF, 317 KB

english, 1994

29

Announcements

Journal:

Year:

1994

Language:

english

File:

PDF, 80 KB

english, 1994