Front Matter (PDF) - Human Molecular Genetics

; ^VOLUME ^NUMBER 3 MARCH 1995
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BIOTECHNOLOGY DIVISION

Human
Molecular
Genetics
Executive Editors
Kay E.Davies, Oxford, UK
Huntington F.Willard, Cleveland, OH, USA
Assistant Editor
Veronica Buckle Oxford, UK
Editorial Board
Philip Avner, Paris
Andrea Ballabio, Milan
Arthur Beaudet, Houston
John Bell, Oxford
Adrian Bird, Edinburgh
Stephen Brown, London
Aravinda Chakravarti, Cleveland
Kenneth Fischbeck, Philadelphia
Peter Goodfellow, Cambridge
Michael Hayden, Vancouver
Katherine Klinger, Framingham
David Ledbetter, Bethesda
Jean-Louis Mandel, Strasbourg
Roderick Mclnnes, Toronto
Anthony Monaco, Oxford
Richard Myers, San Francisco
Yusuke Nakamura, Tokyo
David Nelson, Houston
Ben Oostra, Rotterdam
Peter Pearson, Baltimore
David Porteous, Edinburgh
Annemarie Poustka, Heidelberg
Susan Povey, London
Arthur Riggs, Duarte
Hans-Hilger Ropers, Nijmegen
Yoshiyuki Sakaki, Tokyo
Takehiko Sasazuki, Tokyo
Ellen Solomon, London
Grant Sutherland, Adelaide
Lap-Chee Tsui, Toronto
David Valle, Baltimore
Gert-jan van Ommen, Leiden
Stephen Warren, Atlanta
David Weatherall, Oxford
Jean Weissenbach, Paris
Robert Williamson, London
Editorial and Production
Genny Early, Production Editor
Helen Blaber, UK Editorial office
Carol Cook, US Editorial office
Gordon Tweedie, US Editorial office
OXFORD UNIVERSITY PRESS
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Contents
ARTICLES
Mutations in FGFR1 and FGFR2 cause familial and
sporadic Pfeiffer syndrome
Dpl40: a novel 140 kDa CNS transcript from the
dystrophin locus
Familial adenomatous polyposis: desmoid tumours and
lack of ophthalmic lesions (CHRPE) associated with
APC mutations beyond codon 1444
Mucopolysaccharidosis IVA: screening and
identification of mutations of the N-acetylgalactosamine-
6-sulfate sulfatase gene
DNA binding capacity of the WT1 protein is abolished
by Denys-Drash syndrome WT1 point mutations
Tissue-specific expression of a FM/?7/p-galactosidase
fusion gene in transgenic mice
Molecular basis of p(CCG)n repeat instability at the
FRA16A fragile site locus
Cloning of a human homologue of the Xenopus laevis
APX gene from the ocular albinism type 1 critical
region
Spectrum of germline mutations in the RBI gene: a
study of 232 patients with hereditary and non
hereditary retinoblastoma
REPORTS
Expression of the myotonin protein kinase gene in
preimplantation human embryos
Single cell analysis demonstrating somatic mosaicism
involving lip in a patient with paternal isodisomy and
Beckwith-Wiedemann syndrome
Analysis of the CTG repeat in skeletal muscle of young
and adult myotonic dystrophy patients: when does the
expansion occur?
Cloning of a putative human voltage-gated chloride
channel (CIC-2) cDNA widely expressed in human
tissues
Aniridia-associated cytogenetic rearrangements suggest
that a position effect may cause the mutant phenotype
Recombination rates across the HLA complex: use of
microsatellites as a rapid screen for recombinant
chromosomes
The oculopharyngeal muscular dystrophy locus maps to
the region of the cardiac a and p" myosin heavy chain
genes on chromosome 14qll.2—ql3
Human Molecular Genetics
Volume 4 number 3 March 1995
U.Schell, A.Hehr, G.J.Feldman, N.H.Robin, 323
E.H.Zackai, C.de Die-Smulders, D.H.Viskochil,
J.M.Stewart, G.Wolff, H.Ohashi, R.A.Price,
M.M.Cohen, Jr and M.Muenke
H.G.W.Lidov, S.Selig and L.M.Kunkel 329
R.Caspari, S.Olschwang, W.Friedl, M.Mandl, 337
C.Boisson, T.Boker, A.Augustin, M.Kadmon,
G.Moslein, G.Thomas and P.Propping
T.Ogawa, S.Tomatsu, S.Fukuda, A.Yamagishi, 341
G.M.M.Rezvi, K.Sukegawa, N.Kondo, Y.Suzuki,
N.Shimozawa and T.Orii
M.Little, G.Holmes, W.Bickmore, V.van Heyningen, 351
N.Hastie and B.Wainwright
M.Hergersberg, K.Matsuo, M.Gassmann, 359
W.Schaffner, B.Luscher, T.Rulicke and A.Aguzzi
J.K.Nancarrow, K.Holman, M.Mangelsdorf, T.Hori, 367
M.Denton, G.R.Sutherland and R.I.Richards
M.V.Schiaffino, M.T.Bassi, E.I.Rugarli, A.Renieri, 373
L.Galli and A.Ballabio
V.Blanquet, C.Turleau, M.S.Gross-Morand, 383
C.Senamaud-Beaufort, F.Doz and C.Besmond
R.Daniels, T.Kinis, P.Serhal and M.Monk
F.Z.Bischoff, G.L.Feldman, C.McCaskill,
S.Subramanian, M.R.Hughes and L.G.Shaffer
M.Zatz, M.R.Passos-Bueno, A.Cerqueira, S.K.Marie,
M.Vainzof and R.C.M.Pavanello
L.P.Cid, C.Montrose-Rafizadeh, D.I.Smith,
W.B.Guggino and G.R.Cutting
J.Fantes, B.Redeker, M.Breen, S.Boyle, J.Brown,
J.Fletcher, S.Jones, W.Bickmore, Y.Fukushima,
M.Mannens, S.Danes, V.van Heyningen and I.Hanson
389
395
401
407
415
M.Martin, D.Mann and M.Carrington 423
B.Brais, Y.-G.Xie, M.Sanson, K.Morgan,
J.Weissenbach, A.D.Korczyn, S.C.Blumen,
M.Fardeau, F.M.S.Tome, J.-P.Bouchard and
G.A.Rouleau
429

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Non-ltotoplc RNase Cleavage Assay (NIRCA) Detection of
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Contents (continued)
Deletion of the C-terminal end of
aspartylglucosaminidase resulting in a lysosomal
accumulation disease: evidence for a unique genomic
rearrangement
Blepharophimosis syndrome is linked to chromosome 3q
Sets of short tandem repeat polymorphisms for efficient
linkage screening of the human genome
A gene responsible for cavernous malformations of the
brain maps to chromosome 7q
Genetic heterogeneity of autosomal recessive limb-girdle
muscular dystrophy in a genetic isolate (Amish) and
evidence for a new locus
Evidence from antibody studies that the CAG repeat in
the Huntington disease gene is expressed in the protein
Expression of the neurofibromatosis 2 (NF2) gene
isoforms during rat embryonic development
Mapping the locus of atrophia areata, a helicoid
peripapillary chorioretinal degeneration with autosomal
dominant inheritance, to chromosome Ilpl5
Linkage of posterior polymorphous cornea! dystrophy
to 20qll
MUTATION REPORTS
Missense mutations in the NDP gene in patients with a
less severe course of Norrie disease
A novel point mutation in the Cu/Zn superoxide
dismutase gene in a patient with familial amyotrophic
lateral sclerosis
A G-to-T trans version at the +5 position of intron 1 in
the glutaryl CoA dehydrogenase gene is associated with
the Island Lake variant of glutaric acidemia type I
Author Index
Human Molecular Genetics
Volume 4 number 3 March 1995
A.Jalanko, T.Manninen and L.Peltonen 435
K.W.Small, M.Stalvey, L.Fisher, L.Mullen, C.Dickel, 443
K.Beadles, R.Reimer, A.Lessner, K.Lewis and
M.A.Pericak-Vance
J.Dubovsky, V.C.Sheffield, G.M.Duyk and J.L.Weber 449
J.Dubovsky, J.M.Zabramski, J.Kurth, R.F.Spetzler, 453
S.S.Rich, H.T.Orr and J.L.Weber
V.Allamand, O.Broux, N.Bourg, I.Richard, 459
J.A.Tischfield, M.E.Hodes, P.M.Conneally,
M.Fardeau, C.E.Jackson and J.S.Beckmann
Y.-S.Jou and R.M.Myers 465
D.H.Gutmann, D.E.Wright, R.T.Geist and W.D.Snider 471
R.Fossdal, L.Magniisson, J.L.Weber and O.Jensson 479
E.Heon, W.D.Mathers, W.L.M.Alward,
R.W.Weisenthal, S.L.F.Sunden, J.A.Fishbaugh,
C.M.Taylor, J.H.Krachmer, V.C.Sheffield and
E.M.Stone
A.Meindl, B.Lorenz, H.Achatz, H.Hellebrand,
P.Schmitz-Valckenberg and T.Meitinger
M.Ikeda, K.Abe, M.Aoki, M.Ogasawara, T.Kameya,
M.Watanabe, M.Shoji, S.Hirai and Y.Itoyama
C.R.Greenberg, D.Reimer, R.Singal, B.Triggs-Raine,
A.E.Chudley, L.A.Dilling, S.Philipps, J.C.Haworth,
L.E.Seargeant and S.I.Goodman
Cover. FM/?//p-galactosidase fusion gene in transgenic mice. See article by Hergersberg et al. in this issue.
485
489
491
493
497

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Victor A. McKusick, M.D.
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The Johns Hopkins Hospital
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