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virtual library in human genetics and molecular biology

ARTICLES

Cloning and characterization of alternatively spliced isoforms of
Dp71
R C Austin, P L Howard, V N D'Souza, H J Klamut
and P N Ray. P.1475

Population genetics of trinucleotide repeat polymorphisms
W S Watkins, M Bamshad and L B Jorde P.1485

Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of
wild type and mutant enzymes in Escherichia coli
S I Goodman, L E Kratz, K A DiGiulio, B J Biery,
K E Goodman, G Isaya and F E Frerman. P.1493

A novel L23-related gene 40kb downstream of the imprinted H19
gene is biallelically expressed in mid-fetal and adult human
tissues
P Tsang, F Gilles, L Yuan, Y-H Kuo, F Lupu,
G Samara, J Moosikasuwan, A Goye, A D Zelenetz,
L Selleri and B Tycko. P.1499

cDNA selection from 10 Mb of chromosome 21 DNA: efficiency in
transcriptional mapping and reflections of genome organization
F Tassone, H Xu, H Burkin, S Weissman and
K Gardiner. P.1509

Single sperm analysis of the trinucleotide repeats in the
Huntington's disease gene: quantification of the mutation
frequency spectrum
E P Leeflang, L Zhang, S Tavare, R Hubert,
J Srinidhi, M E MacDonald, R H Myers, M de Young,
N S Wexler, J F Gusella and N Arnheim. P.1519

The upstream stimulatory factor functionally interacts with the
Alzheimer amyloid beta-protein precursor gene
D M Kovacs, W Wasco, J Witherby, K M Felsenstein,
F Brunel, R G Roeder and R E Tanzi. P.1527

Sequence microheterogeneity in apolipoprotein(a) gene repeats and
the relationship to plasma Lp(a) levels
F P Mancini, V Mooser, R Guerra and H Hobbs. P.1535

REPORTS

A frequently occurring mutation in the lipoprotein lipase gene
(Asn291Ser) contributes to the expression of familial combined
hyperlipidemia
P W A Reymer, B E Groenemeyer, E Gagne, L Miao,
E E G Appelman, J C Seidel, D Kromhout, S M Bijvoet,
K van de Oever, T Bruin, M R Hayden and J J P Kastelein. P1543

Candidate regions for a testicular cancer susceptibility gene
M G Leahy, S Tonks, J H Moses, A R Brett, R Huddart,
D Forman, R T D Oliver, D T Bishop and J G Bodmer. P.1551

A muscle-specific DNase I-like gene in human Xq28
J E Parrish, A Ciccodicola, M Wehnert, G F Cox,
E Chen and D L Nelson. P.1557

Proximal deletions of the long arm of the Y chromosome suggest a
critical region associated with a specific subset of
characteristic Turner stigmata
S Barbaux, E Vilain, O Raoul, S Gilgenkrantz,
E Jeandidier, D Chadenas, N Souleyreau, M Fellous
and K McElreavey. P.1565

p16 (CDKN2) is a major deletion target at 9p21 in bladder cancer
M P Williamson, P A Elder, M E Shaw, J Devlin
and M A Knowles. P.1569

Pretibial epidermolysis bullosa: genetic linkage to COL7A1 and
identification of a glycine-to-cysteine substitution in the
triple-helical domain of type VII collagen
A M Christiano, J Y-Y Lee, W J Chen, S LaForgia
and J Uitto. P.1579

Sequence variation and size ranges of CAG repeats in the Machado-
Joseph disease, spinocerebellar ataxia type 1 and androgen
receptor genes
D C Rubinsztein, J Leggo, G A Coetzee, R A Irvine,
M Buckley and M A Ferguson-Smith. P.1585

The pre-mRNA of nuclear respiratory factor 1, a regulator of
mitochondrial biogenesis, is alternatively spliced in human
tissues and cell lines
J N Spelbrink and C Van den Bogert. P.1591

The introduction of two silent mutations into a CFTR cDNA
construct allows improved detection of exogenous mRNA in gene
transfer experiments
S L Hart, E Mayall, M Stern, F M Munkonge, A Frost,
L Huang, M Vasilliou, R Williamson, E W F W Alton
and C Coutelle. P.1597

Cardiac sodium channel mutations in patients with long QT
syndrome, an inherited cardiac arrhythmia
Q Wang, J Shen, Z Li, K Timothy, G M Vincent,
S G Priori, P J Schwartz and M T Keating. P.1603

Mutation of the glucagon receptor gene and diabetes mellitus in
the UK: association or founder effect?
S C L Gough, P J Saker, L E Pritchard, T R Merriman,
M E Merriman, B R Rowe, S Kumar, T Aitman, A H Barnett,
R C Turner, S C Bain and J A Todd. P.1609

The genes for a spliceosome protein (SAP62) and the anti-
Mullerian hormone (AMH) are contiguous
D W Dresser, A Hacker, R Lovell-Badge
and D Guerrier. P.1613

Predominant neuronal expression of the gene repsonsible for
dentatorubral-pallidoluysian atrophy (DRPLA) in rat
I Schmitt, J T Epplen and O Riess P.1619

LINKAGE REPORTS

Familial non-specific dementia maps to chromosome 3
J Brown, A Ashworth, S Gydesen, A Sorensen,
M Rossor, J Hardy and J Collinge. P.1625

Mapping of a distal form of spinal muscular atrophy with upper
limb predominance to chromosome 7p
K Christodoulou, T Kyriakides, A H Hristova,
D M Georgiou, L Kalaydjieva, B Yshpekova, T Ivanova,
J L Weber and L T Middleton. P.1629

Localization of the Schwartz-Jampel syndrome (SJS) locus to
chromosome 1p34-p36.1 by homozygosity mapping
S Nicole, C B Hamida, P Beighton, S Bakouri,
S Belal, N Romero, D Viljoen, G Ponsot,
A Sammoud, J Weissenbach, M Fardeau, M B Hamida,
B Fontaine and F Hentati. P.1633

Linkage of congenital, recessive deafness (DFNB4) to chromosome
7q31 and evidence for genetic heterogeneity in the Middle Eastern
Druze population
C T Baldwin, S Weiss, L A Farrer, A L De Stefano,
R Adair, B Franklyn, K K Kidd, M Korostishevsky
and B Bonne-Tamir. P.1637

Consanguineous nuclear families used to identify a new locus for
recessive non-syndromic hearing loss on 14q
K Fukushima, A Ramesh, C R S Srisailapathy,
L Ni, A Chen, M O'Neill, G Van Camp, P Coucke,
S D Smith, J B Kenyon, Pawain Jain, E R Wilcox,
R I S Zbar and R J H Smith. P.1643

Linkage of the gene that encodes the alpha1 chain of type V
collagen (COL5A1) to type II Ehlers-Danlos syndrome (EDS II)
J Loughlin, C Irven, L J Hardwick, S Butcher,
S Walsh, P Wordsworth and B Sykes. P.1649

Localization of the gene for progressive bifocal chorioretinal
atrophy (PBCRA) to chromosome 6q
R E Kelsell, B F Godley, K Evans, P A C Tiffin,
C Y Gregory, C Plant, A T Moore, A C Bird
and D M Hunt. P.1653

The gene for progressive myoclonus epilepsy of the Lafora type
maps to chromosome 6q
J M Serratosa, A V Delgado-Escueta, I Posada,
S Shih, I Drury, J Berciano, J A Zabala, M C Antunez
and R S Sparkes. P.1657

Linkage disequilibrium mapping of the gene for Hermansky-Pudlak
syndrome to chromosome 10q23.1-q23.3
K Fukai, J Oh, E Frenk, C Almodovar and R A Spritz. P.1665

MUTATION REPORTS

Identification of two new KCNA1 mutations in episodic
ataxia/myokymia families
D L Browne, E R P Brunt, R C Griggs, J G Nutt,
S T Gancher, E A Smith and M Litt. P.1671

Constant rearrangement of the CMT1A-REP sequences in HNPP
patients with a deletion in chromosome 17p11.2: a study of 30
unrelated cases
E LeGuern, R Gouider, J Lopes, N Abbas, M Gugenheim,
S Tardieu, N Ravise, J-M Leger, J M Vallat,
P Bouche, Y Agid, A Brice and the French CMT
Collaborative Research Group. P.1673

Osteoblastic cells derived from isolated lesions of fibrous
dysplasia contain activating somatic mutations of the GsAlpha
gene
A Shenker, P Chanson, L S Weinstein, P Chi,
A M Spiegel, A Lomri and P J Marie. P.1675

A 30 kb deletion within the elastin gene results in familial
supravalvular aortic stenosis
T Olson, V V Michels, Z Urban, K Csiszar,
A M Christiano, D J Driscoll, R H Feldt, C D Boyd
and S N Thibodeau. P.1677

Spontaneous deletion in the FMR1 gene in a patient with fragile X
syndrome and cherubism
F Quan, M Grompe, P Jakobs and B W Popovich. P.1681

A deletion and an insertion in the alleles for the xeroderma
pigmentosum (XPA) DNA-binding protein in mildly affected patients
J E Cleaver, W C Charles, G H Thomas
and M L McDowell. P.1685

Multiple independent occurrence of the 3243 mutation in
mitochondrial tRNAleuUUR in patients with the MELAS phenotype
K J Morten, J Poulton and B Sykes. P.1689

Intronic point mutation in the IL2RG gene causing X-linked severe
combined immunodeficiency
C Tassara, A E Pepper and J M Puck. P.1693

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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