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virtual library in human genetics and molecular biology

ISSN 1964-6906


ARTICLES

Identification of centromeric antigens in dicentric Robertsonian
translocations: CENP-C AND CENP-E are necessary components of functional
centromeres
B A Sullivan and S Schwartz P.2189

Population survey of the human FMR1 CGG repeat
substructure suggests biased polarity for the loss of AGG interruptions
E E Eichler, H A Hammond, J N Macpherson, P A
Ward and D L Nelson P.2199

Highly conserved 3' UTR and expression pattern of FXR1 points to a divergent
gene regulation of FXR1 and FMR1
J F Coy, Z Sedlacek, D Bachner, H Hameister, S Joos,
P Lichter, H Delius and A Poustka P.2209

Oncogenic conversion of a novel orphan nuclear receptor by chromosome
translocation
Y Labelle, J Zucman, G Stenman, L-G Kindblom, J
Knight, C Turc-Carel, B Dockhorn-Dworniczak, N
Mandahl, C Desmaze, M Peter, A Aurias, O Delattre
and G Thomas P.2219

REPORTS

Non-disjunction in human sperm: evidence for an effect of increasing paternal age
D K Griffin, M A Abruzzo, E A Millie, L A Sheean, E
Feingold, S L Sherman and T J Hassold P.2227

Germline mutations in the von Hippel-Lindau disease (VHL) gene in Japanese VHL
Clinical Research Group for VHL in Japan P.2233

Stability of the Huntington disease (CAG)n repeat in a late- onset form occurring
on the Island of Crete
M Tzagournissakis, C O Fesdjian, P Shashidharan and
A Plaitakis P.2239

Lowe Syndrome, a deficiency of a phosphatidyl-inositol 4,5- bisphophate
5-phosphatase in the Golgi apparatus
S F Suchy, I M Olivos-Glander and R L Nussbaum
P.2245

Homologous unequal cross-over involving a 2.8 kb direct repeat as a mechanism
for the generation of allelic variants of the human cytochrome P450 CYP2D6 gene
V M Steen, A Molven, N K Aarskog and A-K
Gulbrandsen P.2251

Distinct transcription start sites generate two forms of BRCA1 mRNA
C-F Xu, M A Brown, J A Chambers, B Griffiths,
H Nicolai and E Solomon P.2259

Mouse Brca1: localization, sequence analysis and identification of evolutionarily
conserved domains K J Abel, Junzhe X, G-Y Yin, R
H Lyons, M H
Meisler and B L Weber P.2265

Murine Brca1: sequence and significance for human missense mutations
S K Sharan, M Wims and A Bradley P.2275

Liposome-mediated gene transfer and expression via the skin
M Y Alexander and R J Akhurst P.2279

Allele-specific replication timing in imprinted domains: absence of asynchrony at
several loci
H Kawame, S M Gartler and R S Hansen P.2287

Mutation analysis of the TSC2 gene in an African-American family
A Kumar, R S Kandt, C Wolpert, A D Roses, M A
Pericak-Vance and J R Gilbert P.2295

T->A transversion 11 bp from a splice acceptor site in the human gene for
steroidogenic acute regulatory protein causes congenital lipoid adrenal hyperplasia
M-K Tee, D Lin, T Sugawara, J A Holt, Y
Guiguen, B Buckingham, J F Strauss III and W L Miller
P.2299

RBM3, a novel human gene in Xp11.23 with a putative RNA- binding domain
J M J Derry, J A Kerns and U Francke P.2307

Breakpoint characterization of the ret/PTC oncogene in human papillary thyroid
carcinoma
P A Smanik, T L Furminger, E L Mazzaferri and S M
Jhiang P.2313

Analysis of the OA1 gene reveals mutations in only one-third of patients with
X-linked ocular albinism
M V Schiaffino, M T Bassi, L Galli, A Renieri, M
Bruttini, F De Nigris, A A B Bergen, S J Charles, J R W
Yates, A Meindl, R A Lewis, R A King and A Ballabio
P.2319

Analysis of the CMT1A-REP repeat: mapping crossover breakpoints in CMT1A
and HNPP
H Kiyosawa, M W Lensch and P F Chance P.2327

Characterization of the large deletion in the GALC gene found in patients with
Krabbe disease
P Luzi, M A Rafi and D A Wenger P.2335

A gene (SRPX) encoding a sushi-repeat-containing protein is deleted in patients
with X-linked retinitis pigmentosa
A Meindl, M R S Carvalho, K Herrmann, B Lorenz, H
Achatz, B Lorenz, E Apfelstedt-Sylla, B Wittwer, M
Ross and T Meitinger P.2339

Identification of a novel gene, ETX1, from Xp21.1, a candidate gene for X-linked
retinitis pigmentosa (RP3)
K L Dry, M A Aldred, A J Edgar, J Brown, F D C
Manson, M-F Ho, J Prosser, L J Hardwick, A A
Lennon, K Thomson, M Van Keuren, D M Kurnit, A C
Bird, M Jay, A P Monaco and A F Wright P.2347

Structural characterization of the FKHR gene and its rearrangement in alveolar
rhabdomyosarcoma
R J Davis, J L Bennicelli, R A Macina, L M Nycum, J A
Biegel and F G Barr P.2355

Molecular genetic analysis of familial early-onset Alzheimer's disease linked to
chromosome 14q24.3
M Cruts, H Backhovens, S-Y Wang, G Van Gassen,
J Theuns, C De Jonghe, A Wehnert, J De Voecht, G De
Winter, P Cras, M Bruyland, N Datson, J Weissenbach,
J T den Dunnen, J-J Martin, L Hendriks and C Van
Broeckhoven P.2363

Mutations of the presenilin I gene in families with early-onset
Alzheimer's disease
D Campion, J-M Flaman, A Brice, D Hannequin, B
Dubois, C Martin, V Moreau, F Charbonnier, O
Didierjean, S Tardieu, C Penet, M Puel, F Pasquier, F
Le Doze, G Bellis, A Calenda, R Heilig, M Martinez, J
Mallet, M Bellis, F Clerget-Darpoux, Y Agid and T
Frebourg P.2373

Imprinting mutations in the Beckwith-Wiedemann syndrome suggested by an
altered imprinting pattern in the IGF2-H19 domain
W Reik, K W Brown, H Schneid, Y Le Bouc, W
Bickmore and E R Maher P.2379

LINKAGE REPORTS

Partial characterization and assignment of the gene for protoporphyrinogen oxidase
and variegate porphyra to human chromosome 1q23
A G Roberts, S D Whatley, J Daniels, P Holmans, I
Fenton, M J Owen, P Thompson, C Long and G H Elder
P.2387

A human recessive neurosensory nonsyndromic hearing impairment locus is a
potential homologue of the murine deafness (dn) locus
P K Jain, K Fukushima, D Deshmukh, A Ramesh, E
Thomas, A K Lalwani, S Kumar, B Ploplis, H Skarka,
C R Srikumari Srisailapathy, S Wayne, R I S Zbar, I C
Verma, R J H Smith and E R Wilcox P.2391

Linkage of congenital hereditary endothelial dystrophy to chromosome 20
N M G Toma, N D Ebenezer, C F Inglehearn, C Plant, L
A Ficker and S S Bhattacharya P.2395

A gene for monilethrix is closely linked to the type II keratin gene cluster at 12q13
E Healy, S C Holmes, C E Belgaid, A M Stephenson, W
H I McLean, J L Rees and C S Munro P.2399


MUTATION REPORTS

Improved oligonucleotide primer set for molecular diagnosis of
X-linked agammaglobulinaemia: predominance of amino acid substitutions in the
catalytic domain of Bruton's tyrosine kinase
I Vorechovsky, Liping Luo, G de Saint Basile, L
Hammarstrom, A D B Webster and C I E Smith
P.2403

Mutation of the endothelin-receptor B gene in Waardenburg-
Hirschsprung disease
T Attie, M Till, A Pelet, J Amiel, P Edery, L Boutrand,
A Munnich and S Lyonnet P.2407

A novel CAG repeat configuration in the SCA1 gene: implications for the
molecular diagnostics of spinocerebellar ataxia type 1
F Quan, J Janas and B W Popovich P.2411

A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3
in Sorsby's fundus dystrophy with unusual clinical features
U Felbor, H Stohr, T Amann, U Schonherr and B H F Weber
P.2415

Interstitial 22q11 microdeletion excluding the ADU breakpoint in a patient with
DiGeorge syndrome
A Levy, S Demczuk, A Aurias, D Depetris, M-G Mattei
and N Philip P.2417

The papers listed above will appear in the December 1995 issue, which is shortly
to be printed. Copies are scheduled for despatch to subscribers on 1 December
1995. If you would like further details about Human Molecular Genetics, including
details of subscription rates, please contact:-

Richard Gedye
Oxford University Press
Walton Street
Oxford OX2 6DP
United Kingdom

Tel: +44 1865 267785
Fax: +44 1865 267782
E-Mail: gedyer@oup.co.uk

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