no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
1 |
Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy
|
Cartier, Nathalie |
|
1993 |
2 |
11 |
p. 1949-1951 |
article |
2 |
A combined genetic and radiation hybrid map surrounding the Treacher Collins syndrome locus on chromosome 5q
|
Loftus, Stacie K. |
|
1993 |
2 |
11 |
p. 1785-1792 |
article |
3 |
A donor splice mutation (405 + 1 G → A) in cystic fibrosis associated with exon skipping in epithelial CFTR mRNA
|
Dork, Thilo |
|
1993 |
2 |
11 |
p. 1965-1966 |
article |
4 |
A housekeeping type promoter, located in the 3' region of the Duchenne muscular dystrophy gene, controls the expression of Dp71, a major product of the gene
|
Lederfein, Doron |
|
1993 |
2 |
11 |
p. 1883-1888 |
article |
5 |
A molecular inventory of human pancreatic islets: sequence analysis of 1000 cDNA clones
|
Takeda, Jun |
|
1993 |
2 |
11 |
p. 1793-1798 |
article |
6 |
Androgen receptor gene mutation in male breast cancer
|
Lobaccaro, Jean-Marc |
|
1993 |
2 |
11 |
p. 1799-1802 |
article |
7 |
An Extensive de novo deletion removing FMR1 in a patient with mental retardation and the fragile X syndrome phenotype
|
Tarleton, Jack |
|
1993 |
2 |
11 |
p. 1973-1974 |
article |
8 |
A novel mutation and a polymorphism in the X chromosome located pyruvate dehydrogenase E1α gene (PDHA1)
|
Takakubo, Fumle |
|
1993 |
2 |
11 |
p. 1961-1962 |
article |
9 |
A novel mutation of the WT1 gene (a tumor suppressor gene for Wilms' tumor) in a patient with Denys – Drash syndrome
|
Sakal, Aklra |
|
1993 |
2 |
11 |
p. 1969-1970 |
article |
10 |
A novel three-nucleotide deletion in the helix 2B region of keratin 14 in epidermolysis bullosa simples: δE375
|
Chen, Marisa A. |
|
1993 |
2 |
11 |
p. 1971-1972 |
article |
11 |
A Pstl polymorphism associated with CRYBA4 on human chromosome 22
|
BijIsma, E.K. |
|
1993 |
2 |
11 |
p. 1984-1984 |
article |
12 |
A single-base substitution in exon 6 of the androgen receptor gene causing complete androgen insensitivity: the mutated receptor fails to transactivate but binds to DNA in vitro
|
Adeyemo, Oyewole |
|
1993 |
2 |
11 |
p. 1809-1812 |
article |
13 |
Author index
|
|
|
1993 |
2 |
11 |
p. 1989-1989 |
article |
14 |
A 45,X male with an X;Y translocation: implications for the mapping of the genes responsible for the mapping of the genes responsible for Turner syndrome and X-linked chondrodysplasia punctata
|
Well, Dominique |
|
1993 |
2 |
11 |
p. 1853-1856 |
article |
15 |
Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions
|
Naylor, Jennifer |
|
1993 |
2 |
11 |
p. 1773-1778 |
article |
16 |
Cloning and expression cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy
|
Chen, Yue Qun |
|
1993 |
2 |
11 |
p. 1841-1846 |
article |
17 |
Close linkage with the RET protooncogene and boundaries of deletion mutations in autosomal dominant Hirschsprung disease
|
Luo, Yin |
|
1993 |
2 |
11 |
p. 1803-1808 |
article |
18 |
construction of a transcription map of a 300 kb region around the human G6PD locus by direst cDNA selection
|
Sediacek, Zdenek |
|
1993 |
2 |
11 |
p. 1865-1869 |
article |
19 |
Corrigendum
|
|
|
1993 |
2 |
11 |
p. 1990-1609 |
article |
20 |
Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty
|
Kremer, Hannie |
|
1993 |
2 |
11 |
p. 1779-1783 |
article |
21 |
Dinucleotide repeat polymorphism at the D19S386 locus
|
lizuka, Masayoshi |
|
1993 |
2 |
11 |
p. 1981-1981 |
article |
22 |
Dinucleotide repeat polymorphism (D10S608) adjacent to the GLUD1 locus
|
Moschonas, N.K. |
|
1993 |
2 |
11 |
p. 1981-1981 |
article |
23 |
Dinucleotide repeat polymorphism in the human aniridia (PAX6) gene
|
Martha, Aruna Devi |
|
1993 |
2 |
11 |
p. 1982-1982 |
article |
24 |
Dinucleotide repeat polymorphism in the INHBA gene
|
Pang, Z. |
|
1993 |
2 |
11 |
p. 1982-1982 |
article |
25 |
Dinucleotide repeat polymorphism in the NEC2 gene
|
Seo, T.S. |
|
1993 |
2 |
11 |
p. 1983-1983 |
article |
26 |
Dinucleotide repeat polymorphisms at D16S467, D16S468 and D5S560
|
lizuka, Masayoshi |
|
1993 |
2 |
11 |
p. 1980-1980 |
article |
27 |
DNA-based immunization induces continuous secretion of hepatitis B surface antigen and high levels of circulating antibody
|
Davis, Heather L. |
|
1993 |
2 |
11 |
p. 1847-1851 |
article |
28 |
Expression and processing of human ornithine-δ-aminotransferase in Saccharomyces cerevisiae
|
Dougherty, Kristiann M. |
|
1993 |
2 |
11 |
p. 1835-1840 |
article |
29 |
Four PCR-based polymorphisms in the pseudoautosomal region of the human X and Y chromosomes
|
Schmitt, Karin |
|
1993 |
2 |
11 |
p. 1978-1978 |
article |
30 |
Functional evidence for a breast cancer growth suppressor gene on chromosome 17
|
Casey, Graham |
|
1993 |
2 |
11 |
p. 1921-1927 |
article |
31 |
Further evidence that imbalance of WT1 isoforms may be involved in Denys – Drash syndrome
|
Konlg, Anja |
|
1993 |
2 |
11 |
p. 1967-1968 |
article |
32 |
Genetic analysis of the BRCA1 region in a large breast/ovarian family: refinement of the minimal region containing BRCA1
|
Keisell, David P. |
|
1993 |
2 |
11 |
p. 1823-1828 |
article |
33 |
Genetic heterogeneity for Duchenne-like muscular dystrophy (DLMD) based on linkage and 50 DAG analysis
|
Passos-Bueno, M.Rita |
|
1993 |
2 |
11 |
p. 1945-1947 |
article |
34 |
Genomic organization of the gene encoding the p65 subunit of NF-xB: multiple variants of the p65 protein may be generated by alternative splicing
|
Deloukas, Panaglotis |
|
1993 |
2 |
11 |
p. 1895-1900 |
article |
35 |
Identification of human chromosome 9 specific genes using exon amplification
|
Church, Deanna M. |
|
1993 |
2 |
11 |
p. 1915-1920 |
article |
36 |
Identification of somatic APC gene mutations in periampullary adenomas in a patient with familial adenomatous polyposis (FAP)
|
Bapat, Bharati |
|
1993 |
2 |
11 |
p. 1957-1959 |
article |
37 |
Identification of two new missense mutations (K58N and R121Q) in the Norrie disease (ND) gene in two Spanish families
|
Fuentes, J.–J. |
|
1993 |
2 |
11 |
p. 1953-1955 |
article |
38 |
Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome)
|
Bunge, Susanna |
|
1993 |
2 |
11 |
p. 1871-1875 |
article |
39 |
Localisation of a gene for Darier's disease
|
Bashir, Rumaisa |
|
1993 |
2 |
11 |
p. 1937-1939 |
article |
40 |
Molecular basis of cystathionine β-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria
|
Hu, Frances L. |
|
1993 |
2 |
11 |
p. 1857-1860 |
article |
41 |
Molecular cytogenetic analysis of formalin-fixed, paraffin-embedded solid tumors by comparative genomic hybridization after universal DNA-amplification
|
Spelcher, Michael R. |
|
1993 |
2 |
11 |
p. 1907-1914 |
article |
42 |
Mutation screening of complete fibrillin-1 coding sequence: report of five new mutations, including two in 8-cysteine domains
|
Tynan, Katherine |
|
1993 |
2 |
11 |
p. 1813-1821 |
article |
43 |
Myotonic dystrophy kinase is a component of neuromuscular junctions
|
Ven, Peter F.M.van der |
|
1993 |
2 |
11 |
p. 1889-1894 |
article |
44 |
Neurofibromatosis type 1 (NF1): the search for mutations by PCR-heteroduplex analysis on Hydrolink gels
|
Shen, Ming Hong |
|
1993 |
2 |
11 |
p. 1861-1864 |
article |
45 |
New human DNA polymorphisms submitted to the genome data base
|
|
|
1993 |
2 |
11 |
p. 1985-1987 |
article |
46 |
Non-disjunction in human sperm: results of fluorescence in situ hybridization studies using two and three probes
|
Williams, Briana J. |
|
1993 |
2 |
11 |
p. 1929-1936 |
article |
47 |
Novel mutation affecting a splice site in exon 4 of the ornithine carbamoyl transferase gene
|
Strautnleks, Sandra |
|
1993 |
2 |
11 |
p. 1963-1964 |
article |
48 |
PCR based polymorphisms for D14S242, D14S246, D14S241, D14S243,D14S244 and D14S245
|
lizuka, Masayoshi |
|
1993 |
2 |
11 |
p. 1979-1979 |
article |
49 |
Point mutations at the carboxy terminus of the human dystrophin gene: implications for an association with mental retardation in DMD patients
|
Lenk, Uwe |
|
1993 |
2 |
11 |
p. 1877-1881 |
article |
50 |
Polymorphisms and rare sequence variants at the ROM1 locus
|
Bascom, Roger A. |
|
1993 |
2 |
11 |
p. 1975-1977 |
article |
51 |
Regional assignment of 19 X-linked ESTs
|
Parrish, Julia E. |
|
1993 |
2 |
11 |
p. 1901-1905 |
article |
52 |
Single base polymorphism in the DAG1 gene detected by DGGE and mismatch PCR
|
lbraghimov-Beskrovnaya, O. |
|
1993 |
2 |
11 |
p. 1983-1983 |
article |
53 |
Tetranucleotide repeat polymorphism at the D8S306 locus
|
Nelson, Lesa |
|
1993 |
2 |
11 |
p. 1984-1984 |
article |
54 |
The gene for Darier's disease maps to chromosome 12q23–q24.1
|
Craddock, Nick |
|
1993 |
2 |
11 |
p. 1941-1943 |
article |
55 |
The human homolog of the glomerulosclerosis gene Mpv17: structure and genomic organization
|
Karasawa, M. |
|
1993 |
2 |
11 |
p. 1829-1834 |
article |
56 |
The utrophin and dystrophin genes share similarities in genomic structure
|
Pearce, Marcela |
|
1993 |
2 |
11 |
p. 1765-1772 |
article |
57 |
Yet another skin defect, Darier's disease, maps to chromosome 12q
|
Buxton, Roger S. |
|
1993 |
2 |
11 |
p. 1763-1764 |
article |