| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A common FGFR3 gene mutation in hypochondroplasia
|
Prinos, Panagiotis
|
|
1995
|
4 |
11 |
p. 2097-2101
|
artikel
|
| 2 |
A duplication/paracentric inversion associated with familial X-linked deafness (DFN3) suggests the presence of a regulatory element more than 400 kb upstream of the POU3F4 gene
|
Kok, Yvette J.M.de
|
|
1995
|
4 |
11 |
p. 2145-2150
|
artikel
|
| 3 |
A G+1→A transversion at the 5' splice site of intron 69 of the dystrophin gene causing the absence of peripheral nerve Dp 116 and severe clinical involvement in a DMD patient
|
Comi, Giacomo P.
|
|
1995
|
4 |
11 |
p. 2171-2174
|
artikel
|
| 4 |
A mutation (T-45C) in the promoter region of the low-density-lipoprotein (LDL)-receptor gene is associated with a mild clinical phenotype in a patient with heterozygous familial hypercholesterolaemia (FH)
|
Sun, Xi-Ming
|
|
1995
|
4 |
11 |
p. 2125-2129
|
artikel
|
| 5 |
Analysis of chromosome behavior in intact mammalian oocytes: monitoring the segregation of a univalent chromosome during female meiosis
|
Hunt, Patricia
|
|
1995
|
4 |
11 |
p. 2007-2012
|
artikel
|
| 6 |
A new locus for arrhythmogenic right ventricular cardiomyopathy (ARVD2) maps to chromosome 1q42–q43
|
Rampazzo, Alessandra
|
|
1995
|
4 |
11 |
p. 2151-2154
|
artikel
|
| 7 |
Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I
|
Tavormina, Patricia L.
|
|
1995
|
4 |
11 |
p. 2175-2177
|
artikel
|
| 8 |
A novel L23-related gene 40 kb downstream of the imprinted H19 gene is biallelically expressed in mid-fetal and adult human tissues
|
Tsang, Patricia
|
|
1995
|
4 |
11 |
p. 2187-2188
|
artikel
|
| 9 |
A novel mutation in the Norrie disease gene predicted to disrupt the cystine knot growth factor motif
|
Strasberg, Paula
|
|
1995
|
4 |
11 |
p. 2179-2180
|
artikel
|
| 10 |
A promoter within intron 35 of the human C4A gene initiates abundant adrenal-specific transcription of a 1 kb RNA: location of a cryptic CYP21 promoter element?
|
Tee, Meng Kian
|
|
1995
|
4 |
11 |
p. 2109-2116
|
artikel
|
| 11 |
A second autosomal split hand/split foot locus maps to chromosome 10q24–q25
|
Nunes, Mark E.
|
|
1995
|
4 |
11 |
p. 2165-2170
|
artikel
|
| 12 |
Author index
|
|
|
1995
|
4 |
11 |
p. 2185-2185
|
artikel
|
| 13 |
Detailed mapping and loss of heterozygosity analysis suggests a suppressor locus involved in sporadic breast cancer within a distal region of chromosome band 17p13.3
|
Stack, Maria
|
|
1995
|
4 |
11 |
p. 2047-2055
|
artikel
|
| 14 |
Gene amplification of the Menkes (MNK; ATP7A) P-type ATPase gene of CHO cells is associated with copper resistance and enhanced copper efflux
|
Camakaris, James
|
|
1995
|
4 |
11 |
p. 2117-2123
|
artikel
|
| 15 |
Germline mosaicism in a female who seemed to be a carrier by sequence analysis
|
Sommer, Steve S.
|
|
1995
|
4 |
11 |
p. 2181-2182
|
artikel
|
| 16 |
Interstitial deletion of the Endothelin-B receptor gene in the spotting lethal (sl) rat
|
Ceccherini, Isabella
|
|
1995
|
4 |
11 |
p. 2089-2096
|
artikel
|
| 17 |
Localization of a gene for non-syndromic hearing loss (DFNA5) to chromosome 7p15
|
Camp, Guy Van
|
|
1995
|
4 |
11 |
p. 2159-2163
|
artikel
|
| 18 |
Mapping a gene (SRN1) to chromosome 1q25–q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis
|
Fuchshuber, Arno
|
|
1995
|
4 |
11 |
p. 2155-2158
|
artikel
|
| 19 |
Molecular analysis of de novo germline mutations in the von Hippel-Lindau disease gene
|
Richards, Frances M.
|
|
1995
|
4 |
11 |
p. 2139-2143
|
artikel
|
| 20 |
Molecular analysis of mutations in mutator colorectal carcinoma cell lines
|
Bhattacharyya, Nitai P.
|
|
1995
|
4 |
11 |
p. 2057-2064
|
artikel
|
| 21 |
Molecular characterization and chromosomal localization of DRT (EPHT3): a developmentally regulated human protein—tyrosine kinase gene of the EPH family
|
Ikegaki, Naohiko
|
|
1995
|
4 |
11 |
p. 2033-2045
|
artikel
|
| 22 |
Mutation of PAX2 in two siblings with renal-coloboma syndrome
|
Sanyanusin, Phaikasame
|
|
1995
|
4 |
11 |
p. 2183-2184
|
artikel
|
| 23 |
Normal phenotype in two brothers with a full FMR1 mutation
|
Smeets, H.J.M.
|
|
1995
|
4 |
11 |
p. 2103-2108
|
artikel
|
| 24 |
Nuclear DNA origin of cytochrome c oxidase deficiency in Leigh's syndrome: genetic evidence based on patient's-derived rho° transformants
|
Tiranti, Valeria
|
|
1995
|
4 |
11 |
p. 2017-2023
|
artikel
|
| 25 |
Physical mapping of the Tec and Gabrb1 loci reveals that the Wsh mutation on mouse chromosome 5 is associated with an inversion
|
Nagle, Deborah L.
|
|
1995
|
4 |
11 |
p. 2073-2079
|
artikel
|
| 26 |
Recombinant mapping of the familial hyperinsulinism gene to an 0.8 cM region on chromosome 11p15.1 and demonstration of a founder effect in Ashkenazi Jews
|
Glaser, Benjamin
|
|
1995
|
4 |
11 |
p. 2187-2188
|
artikel
|
| 27 |
Recombination and allelic association in the Xq/Yq homology region
|
Li, Lin
|
|
1995
|
4 |
11 |
p. 2013-2016
|
artikel
|
| 28 |
Somatic mutations in the hMSH2 gene in microsatellite unstable colorectal carcinomas
|
Børresen, Anne-Lise
|
|
1995
|
4 |
11 |
p. 2065-2072
|
artikel
|
| 29 |
The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species
|
Savitsky, Kinneret
|
|
1995
|
4 |
11 |
p. 2025-2032
|
artikel
|
| 30 |
The mutational spectrum in Waardenburg syndrome
|
Tassabehji, Mayada
|
|
1995
|
4 |
11 |
p. 2131-2137
|
artikel
|
| 31 |
Three new adenosine deaminase mutations that define a splicing enhancer and cause severe and partial phenotypes: implications for evolution of a CpG hotspot and expression of a transduced ADA cDNA
|
Santisteban, Ines
|
|
1995
|
4 |
11 |
p. 2081-2087
|
artikel
|
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