Volume 96; Issue 3

Main
Human Genetics
Volume 96; Issue 3

Human Genetics

Volume 96; Issue 3

1

Molecular basis of phenotypic variation in patients with argininemia

Takako Uchino, Selma E. Snyderman, Marie Lambert, Ijaz A. Qureshi, Stuart K. Shapira, Claude Sansaricq, Leonard M. E. Smit, Cornelis Jakobs, Ichiro Matsuda

Journal:

Year:

1995

Language:

english

File:

PDF, 884 KB

english, 1995

2

Intracellular heteroplasmy for disease-associated point mutations in mtDNA: implications for disease expression and evidence for mitotic segregation of heteroplasmic units of mtDNA

P. M. Matthews, R. M. Brown, K. Morten, D. Marchington, J. Poulton, G. Brown

Journal:

Year:

1995

Language:

english

File:

PDF, 868 KB

english, 1995

3

Characteristic chromosomal fragility of human embryonic cells exposed in vitro to aphidicolin

Daniela Caporossi, Patrizia Vernole, Benedetto Nicoletti, Bruna Tedeschi

Journal:

Year:

1995

Language:

english

File:

PDF, 780 KB

english, 1995

4

Solid-phase minisequencing confirmed by FISH analysis in determination of gene copy number

Maris Laan, Kristiina Grön-Virta, Armi Salo, Pertti Aula, Leena Peltonen, Aarno Palotie, Ann-Christine Syvänen

Journal:

Year:

1995

Language:

english

File:

PDF, 1.17 MB

english, 1995

5

The eighth component of human complement: molecular basis of C8A (C81) polymorphism

Lin Zhang, Christian Rittner, James M. Sodetz, Peter M. Schneider, Thomas Kaufmann

Journal:

Year:

1995

Language:

english

File:

PDF, 751 KB

english, 1995

6

Confirmation of linkage to 1q21-31 in a Danish autosomal dominant juvenile-onset glaucoma family and evidence of genetic heterogeneity

Caroline Graff, Steen F. Urbak, Tord Jerndal, Claes Wadelius

Journal:

Year:

1995

Language:

english

File:

PDF, 870 KB

english, 1995

7

De novo mutation in the mitochondrial ATP synthase subunit 6 gene (T8993G) with rapid segregation resulting in Leigh syndrome in the offspring

Már H. Tulinius, Massoud Houshmand, Nils-Göran Larsson, Elisabeth Holme, Anders Oldfors, Eva Holmberg, Jan Wahlström

Journal:

Year:

1995

Language:

english

File:

PDF, 434 KB

english, 1995

8

Variation at the M235T locus of the angiotensinogen gene and essential hypertension: a population-based case-control study from Rochester, Minnesota

Myriam Fornage, Stephen T. Turner, Charles F. Sing, Eric Boerwinkle

Journal:

Year:

1995

Language:

english

File:

PDF, 720 KB

english, 1995

9

Screening for mutations in exon 4 of the LDL receptor gene in a German population with severe hypercholesterolemia

Jürgen Geisel, Guido Holzem, Kurt Oette

Journal:

Year:

1995

Language:

english

File:

PDF, 817 KB

english, 1995

10

Gene defect in hypodontia: exclusion of MSX1 and MSX2 as candidate genes

Pekka Nieminen, Sirpa Arte, Sinikka Pirinen, Leena Peltonen, Irma Thesleff

Journal:

Year:

1995

Language:

english

File:

PDF, 381 KB

english, 1995

11

Mutations of the fibroblast growth factor receptor-3 gene in one familial and six sporadic cases of achondroplasia in Japanese patients

Shiro Ikegawa, Yoshimitsu Fukushima, Minoru Isomura, Fumio Takada, Yusuke Nakamura

Journal:

Year:

1995

Language:

english

File:

PDF, 388 KB

english, 1995

12

Search for mutations in pancreatic sufficient cystic fibrosis Italian patients: detection of 90% of molecular defects and identification of three novel mutations

Valeria Brancolini, Laura Cremonesi, Elena Belloni, Emanuela Pappalardo, Roberta Bordoni, Manuela Seia, Silvia Russo, Rita Padoan, Annamaria Giunta, Maurizio Ferrari

Journal:

Year:

1995

Language:

english

File:

PDF, 805 KB

english, 1995

13

Recurrent and novel LDL receptor gene mutations causing heterozygous familial hypercholesterolemia in La Habana

Erasmo Pereira, Raoul Ferreira, Brigitte Hermelin, Ginette Thomas, Chantal Bernard, Véronique Bertrand, Hadad Nassiff, Dora Mendez Castillo, Gilbert Bereziat, Pascale Benlian

Journal:

Year:

1995

Language:

english

File:

PDF, 417 KB

english, 1995

14

RS46(DXS548) genotyping of reproductive cells: approaching preimplantation testing of the fragile-X syndrome

Jos C. F. M. Dreesen, Joep P. M. Geraedts, John C. M. Dumoulin, Johannes L. H. Evers, Math H. E. C. Pieters

Journal:

Year:

1995

Language:

english

File:

PDF, 842 KB

english, 1995

15

A recombination event occurring within two complex 5q13.1 microsatellite repeat polymorphisms suggests a telomeric mapping of spinal muscular atrophy

Zahra Yaraghi, Michael D. McLean, Natalie Roy, Linda Surh, Joh-E. Ikeda, Robert G. Korneluk, Alex MacKenzie

Journal:

Year:

1995

Language:

english

File:

PDF, 607 KB

english, 1995

16

Mapping of a human rRNA gene in the YAC contig surrounding the SMA candidate gene

Jana Huschenbett, Alexander Gasch, Andrea Katzer, Maja Affeldt, Astrid Speer

Journal:

Year:

1995

Language:

english

File:

PDF, 508 KB

english, 1995

17

Characterization of a recombinant that locates the hereditary hemochromatosis gene telomeric to HLA-F

Lisa M. Calandro, D. M. Baer, G. F. Sensabaugh

Journal:

Year:

1995

Language:

english

File:

PDF, 352 KB

english, 1995

18

A nonsense mutation (Gln-673-Term) in exon 17 of the human dystrophin gene detected by heteroduplex analysis

Anna Maria Barbieri, Nadia Soriani, Grazia M. Tubiello, Maurizio Ferrari, Paola Carrera

Journal:

Year:

1995

Language:

english

File:

PDF, 249 KB

english, 1995

19

Investigations with fluorescence in situ hybridization (FISH) demonstrate loss of the telomeres on the reciprocal chromosome in three unbalanced translocations involving chromosome 15 in the Prader-Willi and Angelman syndromes

A. Jauch, L. Robson, A. Smith

Journal:

Year:

1995

Language:

english

File:

PDF, 3.19 MB

english, 1995

20

Haplotype analysis of common transthyretin mutations

Maria Rosário Almeida, N. Aoyama-Oishi, Yoshiyuki Sakaki, Gosta Holmgren, Drugge Ulf, Alessandra Ferlini, Fabrizio Salvi, Miguel Munar-Qués, Merrill D. Benson, Martha Skinner, Pedro P. Costa, Maria Jo

Journal:

Year:

1995

Language:

english

File:

PDF, 450 KB

english, 1995

21

Two highly polymorphic CA repeats in the Menkes gene (ATP7A)

Catherine R. Begy, Herman A. Dierick, Jeffrey W. Innis, Thomas W. Glover

Journal:

Year:

1995

Language:

english

File:

PDF, 144 KB

english, 1995

22

Metachromatic leukodystrophy: a 12-bp deletion in exon 2 of the arylsulfatase A gene in a late infantile variant

Jan A. F. M. Luyten, Paul W. Wenink, Gerry C. H. Steenbergen-Spanjers, Ron A. Wevers, Hans Kristian Ploos Amstel, Jan G. N. Jong, Lambert P. W. J. Heuvel

Journal:

Year:

1995

Language:

english

File:

PDF, 378 KB

english, 1995

23

Two further cases of mutation R1947X in the NF1 gene: screening for a relatively common recurrent mutation

Conxi Lázaro, Helena Kruyer, Antonia Gaona, Xavier Estivill

Journal:

Year:

1995

Language:

english

File:

PDF, 453 KB

english, 1995

24

Mutation analysis of ten exons of the CFTR gene in Greek cystic fibrosis patients: characterization of 74.5% of CF alleles including one novel mutation

Emmanuel Kanavakis, Maria Tzetis, Thalia Antoniadi, Joanne Traeger-Synodinos, Stavros Doudounakis, George Adam, Nikos Matsaniotis, Christos Kattamis

Journal:

Year:

1995

Language:

english

File:

PDF, 295 KB

english, 1995

25

The MUC5AC gene: RFLP analysis with the Jer58 probe

P. Pigny, W. S. Pratt, A. Laine, A. Leclercq, D. M. Swallow, V. C. Nguyen, J. P. Aubert, N. Porchet

Journal:

Year:

1995

Language:

english

File:

PDF, 74 KB

english, 1995

26

(CGG) trinucleotide repeat polymorphism in the 5′ region of the HHR6B gene: the human homolog of the yeast DNA repair gene RAD6

Nicholas J. Lench, John Thompson, Alexander F. Markham, Philip A. Robinson

Journal:

Year:

1995

Language:

english

File:

PDF, 180 KB

english, 1995

27

Locus homogeneity for cartilage-hair hypoplasia proven?

Michael Krawczak

Journal:

Year:

1995

Language:

english

File:

PDF, 204 KB

english, 1995

28

Specification of the phenotype required for men with monoamine oxidase type A deficiency

Johannes Hebebrand, Birgit Klug

Journal:

Year:

1995

Language:

english

File:

PDF, 508 KB

english, 1995