Human Molecular Genetics

COMMENTARY:

R.Scott Hawley, Jennifer A.Frazier, and Rebekah Rasooly

Separation anxiety: the etiology of nondisjunction in flies and people
Hum. Mol. Genet. 1994 3: 1521-1528; doi:10.1093/hmg/3.9.1521 [Abstract] [PDF] [Request Permissions]  

ARTICLES:

Stephanie L. Sherman, Michael B. Petersen, Sallie B. Freeman, Jane Hersey, Dorothy Pettay, Lisa Taft, Merete Frantzen, Margareta Mikkelsen, and Terry J. Hassold

Non-disjunction of chromosome 21 in maternal meiosis I: evidence for a maternal age-dependent mechanism involving reduced recombination
Hum. Mol. Genet. 1994 3: 1529-1535; doi:10.1093/hmg/3.9.1529 [Abstract] [PDF] [Request Permissions]  

Takashi Tokino, Sam Thiagalingam, Wafik S. EI-Deiry, Todd Waldman, Kenneth W. Kinzler, and Bert Vogelstein

p53 tagged sites from human genomic DNA
Hum. Mol. Genet. 1994 3: 1537-1542; doi:10.1093/hmg/3.9.1537 [Abstract] [PDF] [Request Permissions]  

Karen Snow, David J. Tester, Kent E. Kruckeberg, Daniel J. Schaid, and Stephen N. Thibodeau

Sequence analysis of the fragile X trinucleotide repeat: implications for the origin of the fragile X mutation
Hum. Mol. Genet. 1994 3: 1543-1551; doi:10.1093/hmg/3.9.1543 [Abstract] [PDF] [Request Permissions]  

Mark C. Hirst, Prabhjit K. Grewal, and Kay E. Davies

Precursor arrays for triplet repeat expansion at the fragile X locus
Hum. Mol. Genet. 1994 3: 1553-1560; doi:10.1093/hmg/3.9.1553 [Abstract] [PDF] [Request Permissions]  

REPORTS:

Han G. Brunner, Sylvia E.C. van Beersum, Matt L. Warman, Bjorn R. Olsen, Hans-Hilger Ropers, and Edwin C.M. Mariman

A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene
Hum. Mol. Genet. 1994 3: 1561-1564; doi:10.1093/hmg/3.9.1561 [Abstract] [PDF] [Request Permissions]  

Nobuhiko Okamoto, Yoshinao Wada, Shinobu Ida, Ryoichi Koga, Kelichi Ozono, Hide-aki Chiyo, Akira Hayashi, and Ke-ita Tatsumi

Monoallelic expression of normal mRNA in the PIT1 mutation heterozygotes with normal phenotype and biallelic expression in the abnormal phenotype
Hum. Mol. Genet. 1994 3: 1565-1568; doi:10.1093/hmg/3.9.1565 [Abstract] [PDF] [Request Permissions]  

Jamilé Hazan, Bertrand Fontaine, Richard P.M. Bruyn, Catherine Lamy, Judith C.T. van Deutekom, Clalre-Sophie Rime, Alexandra Dürr, Judith Melkl, Olivier Lyon-Caen, Yves Agid, Arnold Munnich, George W. Padberg, Jean de Recondo, Rune R. Frants, Alexis Brice, and Jean Welssenbach

Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p
Hum. Mol. Genet. 1994 3: 1569-1573; doi:10.1093/hmg/3.9.1569 [Abstract] [PDF] [Request Permissions]  

Matthijs J. Smith and Peter N. Goodfellow

MIC2R: a transcribed MIC2-related sequence associated with a CpG island in the human pseudoautosomal region
Hum. Mol. Genet. 1994 3: 1575-1582; doi:10.1093/hmg/3.9.1575 [Abstract] [PDF] [Request Permissions]  

Laurence M. Boon, John B. Mulliken, Milkka Vikkula, Hugh Watkins, John Seidman, Bjorn R. Olsen, and Matthew L. Warman

Assignment of a locus for dominantly inherited venous malformations to chromosome 9p
Hum. Mol. Genet. 1994 3: 1583-1587; doi:10.1093/hmg/3.9.1583 [Abstract] [PDF] [Request Permissions]  

Darlusz C.Górecki, Jonathan M.J. Derry, and Eric A. Barnard

Dystroglycan: brain localisation and chromosome mapping in the mouse
Hum. Mol. Genet. 1994 3: 1589-1597; doi:10.1093/hmg/3.9.1589 [Abstract] [PDF] [Request Permissions]  

Jianhua Zhou, Sharon J. Spier, Jill Beech, and Eric P. Hoffman

Pathophysiology of sodium channelopathies: correlation of normal/mutant mRNA ratios with clinical phenotype in dominantly inherited periodic paralysis
Hum. Mol. Genet. 1994 3: 1599-1603; doi:10.1093/hmg/3.9.1599 [Abstract] [PDF] [Request Permissions]  

Franco Paganl, Laura Zagato, Glullana Merati, Giovanni Paone, Bruno Gridelli, and Janette A. Maler

A histidine to tyrosine replacement in lysosomal acid lipase causes cholesteryl ester storage disease
Hum. Mol. Genet. 1994 3: 1605-1609; doi:10.1093/hmg/3.9.1605 [Abstract] [PDF] [Request Permissions]  

Rosallnd M. John, Carolyn A. Robbins, and Richard M. Myers

Identification of genes within CpG-enriched DNA from human chromosome 4p16.3
Hum. Mol. Genet. 1994 3: 1611-1616; doi:10.1093/hmg/3.9.1611 [Abstract] [PDF] [Request Permissions]  

Paolo Narcisi, Allan J.Richards, Stanley D. Ferguson, and F.Michael Pope

A family with Ehlers — Danlos syndrome type III/articular hypermobility syndrome has a glycine 637 to serine substitution in type III collagen
Hum. Mol. Genet. 1994 3: 1617-1620; doi:10.1093/hmg/3.9.1617 [Abstract] [PDF] [Request Permissions]  

Kristina Forsman, Lisbet Lind, Birgitta Bäckman, Eleonora Westermark, and Gösta Holmgren

Localization of a gene for autosomal dominant amelogenesis imperfecta (ADAI) to chromosome 4q
Hum. Mol. Genet. 1994 3: 1621-1625; doi:10.1093/hmg/3.9.1621 [Abstract] [PDF] [Request Permissions]  

David T. Bonthron, Nlcola Brady, lain A. Donaldson, and Beat Steinmann

Molecular basis of essential fructosuria: molecular cloning and mutational analysis of human ketohexokinase (fructokinase)
Hum. Mol. Genet. 1994 3: 1627-1631; doi:10.1093/hmg/3.9.1627 [Abstract] [PDF] [Request Permissions]  

K. Pritchard-Jones, J. Renshaw, and L. King-Underwood

The Wilms tumour (WT1) gene is mutated in a secondary leukaemia in a WAGR patient
Hum. Mol. Genet. 1994 3: 1633-1637; doi:10.1093/hmg/3.9.1633 [Abstract] [PDF] [Request Permissions]  

Roclo Sanchez, Farida Mébarki, Eric Rhéaume, Nathalie Laflamme, Maguelone G. Forest, Faïza Bey-Omard, Michel David, Yves Morel, Fernand Labrle, and Jacques Simard

Functional characterization of the novel L108W and P186L mutations detected in the type II 3ß-hydroxysteroid dehydrogenase gene of a male pseudohermaphrodite with congenital adrenal hyperplasia
Hum. Mol. Genet. 1994 3: 1639-1645; doi:10.1093/hmg/3.9.1639 [Abstract] [PDF] [Request Permissions]  

Konstantin Petrukhin, Svetiana Lutsenko, Igor Chernov, Barbara M. Ross, Jack H. Kaplan, and T.Conrad Gilliam

Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions
Hum. Mol. Genet. 1994 3: 1647-1656; doi:10.1093/hmg/3.9.1647 [Abstract] [PDF] [Request Permissions]  

Dominique Hillaire, Anne Leclerc, Sabine Fauré, Haluk Topaloglu, Nuchanard Chiannllkulchaï, Pascale Guicheney, Laurent Grinas, Patricia Legos, Joanne Philpot, Teresinha Evangelista, Marie-Claude Routon, Michèle Mayer, Jean-Francols Pellissier, Brigitte Estournet, Annie Barols, Fayçal Hentati, Nicole Feingold, Jacqui S.Beckmann, Victor Dubowitz, Fernando M.S.Tomé, and Michel Fardeau

Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping
Hum. Mol. Genet. 1994 3: 1657-1661; doi:10.1093/hmg/3.9.1657 [Abstract] [PDF] [Request Permissions]  

Maria de Fatima, Ming-Tsung Yu, Plerre Jelenc, Stephen Brown, Long Su, Lee Lawton, Larry Deaven, Argiris Eistratiadis, Dorothy Warburton, and Marcelo Bento Soares

Selection of cDNAs using chromosome-specific genomic clones: application to human chromosome 13
Hum. Mol. Genet. 1994 3: 1663-1673; doi:10.1093/hmg/3.9.1663 [Abstract] [PDF] [Request Permissions]  

Susan Byck, Ken Morgan, Linda Tyfield, Bernd Dworniczak, and Charles R. Scriver

Evidence for origin, by recurrent mutation, of the phenylalanine hydroxylase R408W mutation on two haplotypes in European and Quebec populations
Hum. Mol. Genet. 1994 3: 1675-1677; doi:10.1093/hmg/3.9.1675 [Abstract] [PDF] [Request Permissions]  

Patricia Tonin, Olga Serova, Jacques Simard, Gilbert Lenoir, Jean Feunteun, Kenneth Morgan, Henry Lynch, and Steven Narod

The gene for hereditary breast-ovarian cancer, BRCA1, maps distal to EDH17B2 in chromosome region 17q12–q21
Hum. Mol. Genet. 1994 3: 1679-1682; doi:10.1093/hmg/3.9.1679 [Abstract] [PDF] [Request Permissions]  

MUTATION REPORTS:

Hideo Orimo, Zuisei Hayashi, Atsushi Watanabe, Tsunenori Hirayama, and Tsuneo Hirayama

Novel missense and frameshift mutations in the tissue-nonspecific alkaline phosphatase gene in a Japanese patient with hypophosphatasia
Hum. Mol. Genet. 1994 3: 1683-1684; doi:10.1093/hmg/3.9.1683 [PDF] [Request Permissions]  

V. Faà, M.L. Ventruto, S. Loche, M. Bozzola, R. Podda, A. Cao, and M.C. Rosatelli

Mutations in the vasopressin V2-receptor gene in three families of Italian descent with nephrogenic diabetes insipidus
Hum. Mol. Genet. 1994 3: 1685-1686; doi:10.1093/hmg/3.9.1685 [PDF] [Request Permissions]  

Alessandro Stella, Mariapina Montera, Nicoletta Resta, Cristina Marchese, Francesco Susca, Mattia Gentile, Leila Romio, Simonetta Pilia, Ferdinando Prete, Cristina Mareni, and Ginevra Guanti

Four novel mutations of the APC (adenomatous polyposis coli) gene in FAP patients
Hum. Mol. Genet. 1994 3: 1687-1688; doi:10.1093/hmg/3.9.1687 [PDF] [Request Permissions]  

Jacques Simard, Sital Moorjani, Marie-Claude Vohl, Patrick Couture, Ana L. Torres, Claude Gagné, Jean-Pierre Després, Fernand Labrie, and Paul J. Lupien

Detection of a novel mutation (stop 468) in exon 10 of the low-density lipoprotein receptor gene causing familial hypercholesterolemia among French Canadians
Hum. Mol. Genet. 1994 3: 1689-1691; doi:10.1093/hmg/3.9.1689 [PDF] [Request Permissions]  

M.G.S. Dunnill, A.J. Richards, G. Mllana, F. Mollica, R.A.J. Eady, and F.M. Pope

A novel homozygous point mutation in the collagen VII gene (COL7A1) in two cousins with recessive dystrophic epidermolysis bullosa
Hum. Mol. Genet. 1994 3: 1693-1694; doi:10.1093/hmg/3.9.1693 [PDF] [Request Permissions]  

Scott T. Magness, Antonio Tugores, Steven R. Christensen, Caryn Wagner-Mcpherson, Glen A. Evans, Edwin W. Naylor, and David A. Brenner

Deletion of the ferrochelatase gene in a patient with protoporphyria
Hum. Mol. Genet. 1994 3: 1695-1697; doi:10.1093/hmg/3.9.1695 [PDF] [Request Permissions]  

Ulrike Orth, Nicholas Fairweather, Mareike-Christine Exler, Eberhard Schwinger, and Andreas Gal

X-linked dominant Charcot — Marie — Tooth neuropathy: valine-38-methionine substitution of connexin32
Hum. Mol. Genet. 1994 3: 1699-1700; doi:10.1093/hmg/3.9.1699 [PDF] [Request Permissions]  

Bernd Rautenstrauß, Eva Nelis, Holger Grehl, Rudolf A. Pfeiffer, and Christine Van Broeckhoven

Identification of a de novo insertional mutation in P_o in a patient with a Déjérine - Sottas syndrome (DSS) phenotype
Hum. Mol. Genet. 1994 3: 1701-1702; doi:10.1093/hmg/3.9.1701 [PDF] [Request Permissions]  

Ralner Paffenholz, Marion Mandl, Reiner Caspari, Marlies Sengteller, Peter Propping, and Waltraut Friedl

Eleven novel germline mutations in the adenomatous polyposis coli (APC) gene
Hum. Mol. Genet. 1994 3: 1703-1704; doi:10.1093/hmg/3.9.1703 [PDF] [Request Permissions]  

Yanghong Gu, Kellle A. Lugenbeel, Joseph G. Vockley, Wayne W. Grody, and David L. Nelson

A de novo deletion in FMR1 in a patient with developmental delay
Hum. Mol. Genet. 1994 3: 1705-1706; doi:10.1093/hmg/3.9.1705 [PDF] [Request Permissions]  

DNA MARKERS AND POLYMORPHISMS:

Masayoshi lizuka, Yuki Sugiyama, Carol Jones, Mitsuo Oshimura, Kenshi Hayashi, and Takao Sekiya

Twelve simple repeat sequence polymorphisms on chromosomes 4, 11, 16 and 21
Hum. Mol. Genet. 1994 3: 1707-1708; doi:10.1093/hmg/3.9.1707 [PDF] [Request Permissions]  

Y. Nakahori, K. Kobayashi, R. Komaki, I. Matsushita, and Y. Nakagome

A locus of the candidate gene family for azoospermia factor (YRRM2) is polymorphic with a null allele in Japanese males
Hum. Mol. Genet. 1994 3: 1709; doi:10.1093/hmg/3.9.1709 [PDF] [Request Permissions]  

C. Epplen, G. Frank, M. Gomolka, E. Albert, P. Nurnberg, and J.T. Epplen

Dinucleotide repeat polymorphism in the human IL1A gene
Hum. Mol. Genet. 1994 3: 1710; doi:10.1093/hmg/3.9.1710 [PDF] [Request Permissions]  

L. Borish, J.J. Mascali, M. Klinnert, M. Leppert, and L.J. Rosenwasser

SSC polymorphisms in interleukin genes
Hum. Mol. Genet. 1994 3: 1710; doi:10.1093/hmg/3.9.1710-a [PDF] [Request Permissions]  

M.I. Gallego, F. Varas, and P.A. Lazo

HindIll RFLP in the human CD53 gene on 1p13
Hum. Mol. Genet. 1994 3: 1711; doi:10.1093/hmg/3.9.1711 [PDF] [Request Permissions]  

M.J. Kristensen, S. Kmoch, P. Bross, B.S. Andresen, and N. Gregersen

Amino acid polymorphism (Gly209Ser) in the ACADS gene
Hum. Mol. Genet. 1994 3: 1711; doi:10.1093/hmg/3.9.1711-a [PDF] [Request Permissions]  

A. Ashworth, T. Campbell, M. Palmer, J. Collinge, and J. Brown

G/T polymorphism in CRYA2 gene
Hum. Mol. Genet. 1994 3: 1712; doi:10.1093/hmg/3.9.1712 [PDF] [Request Permissions]  

M.L. Carey, Y. Liang, T.D. Barber, R. Morell, D.H. Johnson, S. Cox, J.H. Asher, Jr, and T.B. Friedman

Dinucleotide repeat polymorphism at D14S542
Hum. Mol. Genet. 1994 3: 1712; doi:10.1093/hmg/3.9.1712-a [PDF] [Request Permissions]  

G.M. Brown, R.A. Furlong, and N.A. Affara

A dinucleotide repeat polymorphism at the D9S749 locus
Hum. Mol. Genet. 1994 3: 1713; doi:10.1093/hmg/3.9.1713 [PDF] [Request Permissions]  

E.A. Schultz, D.F. Callen, N.A. Doggett, J.L. Haines, and T.J. Lerner

Microsatellite repeat polymorphism at the D16S366 locus
Hum. Mol. Genet. 1994 3: 1713; doi:10.1093/hmg/3.9.1713-a [PDF] [Request Permissions]  

Author index:

Author index
Hum. Mol. Genet. 1994 3: 1715; doi:10.1093/hmg/3.9.1715 [PDF] [Request Permissions]  

Corrigendum:

M.W. Consevage, G.C. Salada, B.G. Baylen, R.L. Ladda, and P.K. Rogan

A new missense mutation, Arg719Gln, in the ß-cardiac heavy chain myosin gene of patients with familial hypertrophic cardiomyopathy
Hum. Mol. Genet. 1994 3: 1716; doi:10.1093/hmg/3.9.1716 [PDF] [Request Permissions]  

Instructions to Authors:

Instructions to Authors
Hum. Mol. Genet. 1994 3: 1717-1719; doi:10.1093/hmg/3.9.1717 [PDF] [Request Permissions]  

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