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virtual library in human genetics and molecular biology

ARTICLES

Expression of human full-length and minidystrophin in
transgenic mdx mice: implications for gene therapy of Duchenne
muscular dystrophy
D J Wells, K E Wells, E A Asante, G Turner,
Y Sunada, K P Campbell, F S Walsh and G Dickson. P.1245

Expression of full-length and truncated dystrophin mini-genes
in transgenic mdx mice
S F Phelps, M A Hauser, N M Cole, J A Rafael,
R T Hinkle, J A Faulkner and J S Chamberlain. P.1251

Comparison of the positional cloning methods used to isolate
the BRCA1 gene
K Harshman, R Bell, J Rosenthal, H Katcher, Y Miki,
J Swenson, Z Gholami, C Frye, W Ding, P Dayananth,
K Eddington, F H Norris, P K Bristow, R Phelps,
T Hattier, S Stone, D Shaffer, S Bayer, C Hussey,
T Tran, K Richardson, B Dehoff, M Lai, P R Rosteck,Jr,
M H Skolnick, D Shattuck-Eidens and A Kamb. P.1259

On unequal allelic expression of the neurofibromin gene in
neurofibromatosis type 1
S Hoffmeyer, G Assum, J Griesser, D Kaufmann,
P Nurnberg and W Krone. P.1267

Allelic association and deletions in autosomal recessive
proximal spinal muscular atrophy: association of marker
genotype with disease severity and candidate cDNAs
B Wirth, E Hahnen, K Morgan, C J DiDonato,
A Dadze, S Rudnik-Schoneborn, L R Simard,
K Zerres and A H M Burghes. P.1273

A large deletion together with a point mutation in the GALC
gene is a common mutant allele in patients with infantile
Krabbe disease
M A Rafi, P Luzi, Y Q Chen and D A Wenger. P.1285

Model for a transcript map of human chromosome 21: isolation
of new coding sequences from exon and enriched cDNA libraries
M-L Yaspo, L Gellen, R Mott, B Korn, D Nizetic,
A Poustka and H Lehrach. P.1291

REPORTS

Localization of 102 exons to a 2.5 Mb region involved in Down
syndrome
D Lucente, H M Chen, D Shea, S N Samec, M Rutter,
R Chrast, C Rossier, A Buckler, S E Antonarakis and
M K McCormick. P.1305

A widespread amino acid polymorphism at codon 905 of the
glycogen-associated regulatory subunit of protein
phosphatase-1 is associated with insulin resistance and
hypersecretion of insulin
L Hansen, T Hansen, H Vestergaard, C Bjorbaek,
S M Echwald, J O Clausen, Y H Chen, M X Chen,
P T W Cohen and O Pedersen. P.1313

Characterization of the 5' region of the Fanconi anaemia group
C (FACC) gene
A Savoia, M Centra, L Ianzano, G P de Cillis,
L Zelante and M Buchwald. P.1321

Spectrum of mitochondrial DNA rearrangements in the Pearson
marrow-pancreas syndrome
A Rotig, T Bourgeron, D Chretien, P Rustin and
A Munnich. P.1327

A novel nonsense mutation in the PKD1 gene (C3817T) is
associated with autosomal dominant polycystic kidney disease
(ADPKD) in a large three-generation Italian family
A E Turco, S Rossetti, E Bresin, S Corra',
L Gammaro, G Maschio and P F Pignatti. P.1331

A transcribed human sequence related to the mouse HC1 and the
human papillomavirus type 18 E5 genes is located at chromosome
7p13-14
C Geisen, H Delius, P Lichter and T Kahn. P.1337

A yeast artificial chromosome contig from human chromosome
14q24 spanning the Alzheimer's disease locus AD3
R F Clark, M Cruts, K M Korenblat, C He, C Talbot,
C Van Broeckhoven and A M Goate. P.1347

Genetic and physical characterization of the early-onset
Alzheimer's disease AD3 locus on chromosome 14q24.3
M Cruts, H Backhovens, J Theuns, R F Clark,
D Le Paslier, J Weissenbach, A M Goate, J-J Martin
and C Van Broeckhoven. P.1355

Expression of the Huntington's disease (IT15) protein product
in HD patients
G Schilling, A H Sharp, S J Loev, M V Wagster,
S-H Li, O C Stine and C A Ross. P.1365

Isolation of chromosome-specific genes by reciprocal probing
of arrayed cDNA and cosmid libraries
C C Lee, A Yazdani, M Wehnert, Z Y Zhao,
E A Lindsay, J Bailey, M I Coolbaugh, L Couch,
M Xiong, A C Chinault, A Baldini and C T Caskey. P.1373

Diversity of RET proto-oncogene mutations in familial and
sporadic Hirschsprung disease
T Attie, A Pelet, P Edery, C Eng, L M Mulligan,
J Amiel, L Boutrand, C Beldjord, C Nihoul-Fekete,
A Munnich, B A J Ponder and S Lyonnet. P.1381

Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a
common point mutation shared with Jackson-Weiss syndrome
M C Gorry, R A Preston, G J White, Y Zhang,
V K Singhal, H W Losken, M G Parker, N A Nwokoro,
J C Post and G D Ehrlich. P.1387

Autosomal recessive lamellar icthyosis: identification of a
new mutation in transglutaminase 1 and evidence for genetic
heterogeneity
L Parmentier, C Blanchet-Bardon, S Nguyen,
J-F Prud'homme, L Dubertret and J Weissenbach. P.1391

Myotonia levior is a chloride channel disorder
F Lehmann-Horn, V Mailander, R Heine and
A L George. P.1397

Inactivation of Apoe and Apoc1 by two consecutive rounds of
gene targeting: effects on mRNA expression levels of gene
cluster members
J H van Ree, W J J A van den Broek, A van der Zee,
V E H Dahlmans, B Wieringa, R R Frants,
L M Havekes and M H Hofker. P.1403

Friedreich's ataxia: a defect in signal transduction?
J J Carvajal, M A Pook, K Doudney, R Hillermann,
D Wilkes, S Al-Mahdawi, R Williamson and
S Chamberlain. P.1411

Maternally inherited hearing loss, ataxia and myoclonus
associated with a novel point mutation in mitochondrial
tRNASer(UCN)gene
V Tiranti, P Chariot, F Carella, A Toscano, P Soliveri,
P Girlanda, F Carrara, G M Fratta, F M Reid,
C Mariotti and M Zeviani. P.1421

A nonsense mutation of the human luteinizing hormone receptor
gene in Leydig cell hypoplasia
L Laue, S-M Wu, M Kudo, A J W Hsueh, G B Cutler,Jr,
J E Griffin, J D Wilson, C Brain, A C Berry,
D B Grant and W-Y Chan. P.1429

LINKAGE REPORTS

Linkage of autosomal dominant iris hypoplasia to the region of
the Rieger syndrome locus (4q25)
E Heon, B P Sheth, J W Kalenak, S L F Sunden,
L M Streb, C M Taylor, W L M Alward, V C Sheffield
and E M Stone. P.1435

Localization of autosomal dominant cerebellar ataxia
associated with retinal degeneration and anticipation to
chromosome 3p12-p21.1
M Holmberg, J Johansson, L Forsgren, J Heijbel,
O Sandgren and G Holmgren. P.1441

A gene for Leber's congenital amaurosis maps to chromosome 17p
A Camuzat, H Dollfus, J-M Rozet, S Gerber,
D Bonneau, M Bonnemaison, M-L Briard,
J-L Dufier, I Ghazi, C Leowski, J Weissenbach,
J Frezal, A Munnich and J Kaplan. P.1447

Localization of the syndactyly type II (synpolydactyly) locus
to 2q31 region and identification of tight linkage to HOXD8
intragenic marker
M Sarfarazi, A N Akarsu and B S Sayli. P.1453

An eighth locus for autosomal dominant retinitis pigmentosa is
linked to chromosome 17q
S Bardien, N Ebenezer, J Greenberg, C F Inglehearn,
L Bartmann, R Goliath, P Beighton, R Ramesar and
S S Bhattacharya. P.1459

MUTATION REPORTS

Recurrent nasal polyps as a monosymptomatic form of cystic
fibrosis associated with a novel in-frame deletion (591del18)
in
the CFTR gene
R Varon, K Magdorf, D Staab, H-U Wahn,
M Krawczak, K Sperling and A Reis. P.1463

Molecular analysis of four males with mental retardation and
deletions of Xq21 places the putative Mr region in Xq21.1
between DXS233 and CHM
M May, L Colleaux, A Murgia, A Aylsworth,
R Nussbaum, M Fontes and C Schwartz. P.1465

Further mutations in Brain 4 (POU3F4) clarify the phenotype in
the X-linked deafness, DFN3
M Bitner-Glindzicz, P Turnpenny, P Hoglund,
H Kaariainen, E-M Sankila, S M van der Maarel,
Y J M de Kok, H-H Ropers, F P M Cremers,
M Pembrey and S Malcolm. P.1467

A de novo frame-shift mutation in the tuberin gene
A Kumar, C Wolpert, R S Kandt, J Segal, J Pufky,
A D Roses, M A Pericak-Vance and J R Gilbert. P.1471

Author index P.1473

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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