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virtual library in human genetics and molecular biology

ARTICLES

Analysis of chromosome behaviour in intact mammalian oocytes:
monitoring the segregation of a univalent chromosome during
female meiosis
P Hunt, R LeMaire, P Embury, L Sheean and
K Mroz P.2007

Recombination and allelic association in the Xq/Yq homology
region
L Li and D H Hamer P.2013

Nuclear DNA origin of cytochrome c oxidase deficiency in
Leigh's syndrome: genetic evidence based on patient's-derived
rho transformants
V Tiranti, M Munaro, D Sandona, E Lamantea, M Rimoldi,
S DiDonato, R Bisson and M Zeviani P.2017

The complete sequence of the coding region of the ATM gene
reveals similarity to cell cycle regulators in different species
K Savitsky, S Sfez, D A Tagle, Y Ziv, A Sartiel,
F S Collins, Y Shiloh and G Rotman P.2025

REPORTS

Molecular characterization and chromosomal localization of DRT
(EPHT3): a developmentally regulated human protein-tyrosine
kinase gene of the EPH family
N Ikegaki, X X Tang, X-G Liu, J A Biegel, C Allen,
A Yoshioka, E P Sulman, G M Brodeur and
D E Pleasure P.2033

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
M Stack, D Jones, G White, D S Liscia, T Venesio,
G Casey, D Crichton, J Varley, E Mitchell, J Heighway
and M Santibanez-Koref P.2047

Molecular analysis of mutations in mutator colorectal carcinoma
cell lines

N P Bhattacharyya, A Ganesh, G Phear, B Richards,
A Skandalis and M Meuth P.2057

Somatic mutations in the hMSH2 gene in microsatellite unstable
colorectal carcinomas
A-L Borresen, R A Lothe, G I Meling, S Lystad,
P Morrison, J Lipford, M F Kane, T O Rognum and
R D Kolodner P.2065

Physical mapping of the Tec and Gabrb1 loci reveals that the Wsh
mutation on mouse chromosome 5 is associated with an inversion
D L Nagle, C A Kozak, H Mano, V M Chapman
and M Bucan P.2073

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
I Santisteban, F X Arredondo-Vega, S Kelly, M Loubser,
N Meydan, C Roifman, P L Howell, T Bowen, K I Weinberg,
M L Schroeder and M S Hershfield P.2081

Interstitial deletion of the Endothelin-B receptor gene in the
spotting lethal (sl) rat
I Ceccherini, A L Zhang, I Matera, G Yang, M Devoto,
G Romeo and D T Cass P.2089

A common FGFR3 gene mutation in hypochondroplasia
P Prinos, T Costa, A Sommer, M W Kilpatrick and
P Tsipouras P.2097

Normal phenotype in two brothers with a full FMR1 mutation
H J M Smeets, A P T Smits, C E Verheij, J P G Theelan,
R Willemsen, I van de Burgt, A T Hoogeveen, J C Oosterwijk
and B A Oostra P.2103

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?
M K Tee, G O Babalola, P Aza-Blanc, M Speek, S E Gitelman
and W L Miller P.2109

Gene amplification of the Menkes (MNK;ATP7A) P-type ATPase gene
of CHO cells is associated with copper resistance and enhanced
copper efflux
J Camakaris, M J Petris, L Bailey, P Shen,
P Lockhart, T W Glover, C L Barcroft, J Patton
and J F B Mercer P.2117

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)
X-M Sun, C Neuwirth, D P Wade, B L Knight
and A K Soutar P.2125

The mutational spectrum in Waardenburg syndrome
M Tassabehji, V E Newton, X-Z Liu, A Brady, D Donnai,
M Krajewska-Walasek, V Murday, A Norman, E Obersztyn,
W Reardon, J C Rice, R Trembath, P Wieacker, M Whiteford,
R Winter and A P Read P.2131

Molecular analysis of de novo germline mutations in the von
Hippel-Lindau disease gene
F M Richards, S J Payne, B Zbar, N A Affara,
M A Ferguson-Smith and E R Maher P.2139

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
Y J M de Kok, G F M Merkx, S M van der Maarel,
I Huber, S Malcolm, H-H Ropers and F P M Cremers P.2145

LINKAGE REPORTS

A new locus for arrhythmogenic right ventricular cardiomyopathy
(ARVD2) maps to chromosome 1q42-q43
A Rampazzo, A Nava, P Erne, M Eberhard, E Vian,
P Slomp, N Tiso, G Thiene and G A Danieli P.2151

Mapping a gene (SRN1) to chromosome 1q25-q31 in idiopathic
nephrotic syndrome confirms a distinct entity of autosomal
recessive nephrosis
A Fuchshuber, G Jean, O Gribouval, M-C Gubler, M Broyer,
J S Beckmann, P Niaudet and C Antignac P.2155

Localization of a gene for non-syndromic hearing loss (DFNA5) to
chromosome 7p15
G Van Camp, P Coucke, W Balemans, D Van Velzen,
C Van de Bilt, L Van Laer, R J H Smith, K Fukushima,
G W Padberg, R R Frants, P Van de Heyning, S D Smith,
E H Huizing and P J Willems P.2159

A second autosomal split hand/split foot locus maps to chromosome
10q24-q25
M E Nunes, G Schutt, R P Kapur, F Luthardt, M Kukolich,
P Byers and J P Evans P.2165

MUTATION REPORTS

A G+1->A transversion at the 5' splice site of intron 69 of the
dystrophin gene causing the absence of peripheral nerve Dp116 and
severe clinical involvement in a DMD patient
G P Comi, E Ciafaloni, R H A de Silva, A Prelle,
A Bardoni, C Rigoletto, M Robotti, N Bresolin, M Moggio,
F Fortunato, P Ciscato, A Turconi, A D Rose
and G Scarlato P.2171

Another mutation that results in the substitution of an unpaired
cysteine residue in the extracellular domain of FGFR3 in
thanatophoric dysplasia type I
P L Tavormina, D L Rimoin, D H Cohn, Y-Z Zhu,
R Shiang and J J Wasmuth P.2175

A novel mutation in the Norrie disease gene predicted to disrupt
the cystine knot growth factor motif
P Strasberg, H A Liede, T Stein, I Warren,
J Sutherland and P N Ray P.2179

Germline mosaicism in a female who seemed to be a carrier by
sequence analysis
S S Sommer, A Knoll, C R Greenberg and
R P Ketterling P.2181

Mutation of PAX2 in two siblings with renal-coloboma syndrome
P Sanyanusin, L A McNoe, M J Sullivan,
R Grey Weaver and M R Eccles P.2183

Human Molecular Genetics is a monthly journal of original
peer-reviewed research, published by Oxford University Press.
In addition to the regular monthly issues, a special review
issue, reviewing important developments in the field, is
published each year.

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