Hum. Mol. Genet. -- Table of Contents (3 [2] )

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Contents: Volume 3, Number 2   February 1994   [Index by Author]

       ARTICLES

       REPORTS

       MUTATION REPORTS

       DNA MARKERS AND POLYMORPHISMS

       Author index

       ERRATUM

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ARTICLES:

Phillip F. Chance, Nacer Abbas, M.William Lensch, Liu Pentao, Benjamin B. Roa, Pragna I. Patel, and James R. Lupski: Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17
Hum. Mol. Genet. 1994 3: 223-228; doi:10.1093/hmg/3.2.223 [Abstract] [PDF] [Request Permissions]

Nissim Ben-Arie, Doron Lancet, Clare Taylor, Miriam Khen, NaomlWalker, David H. Ledbetter, Romeo Carrozzo, Ketan Patel, Denlse Sheer, Hans Lehrach, and Michael A. North: Olfactory receptor gene cluster on human chromosome 17: possible duplication of an ancestral receptor repertoire
Hum. Mol. Genet. 1994 3: 229-235; doi:10.1093/hmg/3.2.229 [Abstract] [PDF] [Request Permissions]

REPORTS:

Charis Eng, Darrin P. SmIth, Lois M. MullIgan, Maria A. Nagal, Catherine S. Healey, Margaret A. Ponder, Emily Gardner, Georg F.W. Scheumann, CharIes E. Jackson, Alan Tunnacllffe, and Bruce A.J. Ponder: Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumours
Hum. Mol. Genet. 1994 3: 237-241; doi:10.1093/hmg/3.2.237 [Abstract] [PDF] [Request Permissions]

Jlan-Bing Fan, Joe DeYoung, Rob Lagacé, R.Andrea Lina, Zhldong Xu, Jeffrey C. Murray, Kenneth H. Buetow, Jean Weissenbach, Richard D. Goold, David R. Cox, and Richard M. Myers: Isolation of yeast artificial chromosome clones from 54 polymorphic loci mapped with high odds on human chromosome 4
Hum. Mol. Genet. 1994 3: 243-246; doi:10.1093/hmg/3.2.243 [Abstract] [PDF] [Request Permissions]

Joan Overhauser, Xlaogu Huang, Meryl Gersh, Wesley Wilson, Jeanette McMahon, Ulla Bengtsson, Katherine Rojas, Marvin Meyer, and John J. Wasmuth: Molecular and phenotypic mapping of the short arm of chromosome 5: sublocalization of the critical region for the cri-du-chat syndrome
Hum. Mol. Genet. 1994 3: 247-252; doi:10.1093/hmg/3.2.247 [Abstract] [PDF] [Request Permissions]

Rosann A. Farber, Thomas D. Petes, Margaret Dominska, Sarah S. Hudgens, and R.Michael Liskay: Instability of simple sequence repeats in a mammalian cell line
Hum. Mol. Genet. 1994 3: 253-256; doi:10.1093/hmg/3.2.253 [Abstract] [PDF] [Request Permissions]

Anne-Francolse Roux, Johanna Rommens, Cathy McDowell, Lynn Anson-Cartwright, Sherllyn Bell, Keith Schappert, Gerry A.Flshman, and Maria Musarella: Identification of a gene from Xp21 with similarity to the tctex-1 gene of the murine t complex
Hum. Mol. Genet. 1994 3: 257-263; doi:10.1093/hmg/3.2.257 [Abstract] [PDF] [Request Permissions]

Jean Mosser, Yves Lutz, Marie Elisabeth Stoeckel, Claude Olivier Sarde, Christine Kretz, Anne Marie Douar, Jacqueline Lopez, Patrick Aubourg, and Jean Louis Mandel: The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein
Hum. Mol. Genet. 1994 3: 265-271; doi:10.1093/hmg/3.2.265 [Abstract] [PDF] [Request Permissions]

A. Smahl, C. Hyden-Granskog, B. Peterlin, P. Vabres, S. Heuertz, M.C. Fulchlgnoni-Lataud, N. Dahl, P. Labrune, B.Le Marec, C. PIussan, A. Taleb, H.von Koskul, and M.C. Hors-Cayla: The gene for the familial form of incontinentia pigmenti (IP2) maps to the distal part of Xq28
Hum. Mol. Genet. 1994 3: 273-278; doi:10.1093/hmg/3.2.273 [Abstract] [PDF] [Request Permissions]

Ruud H. Brakenhoff, Hans A.M. Henskens, Maarten W.P.C.van Rossum, Nicolette H. Lubsen, and John G.G. Schoenmakers: Activation of the ${Gamma}$ E-crystallin pseudogene in the human hereditary Coppock-like cataract
Hum. Mol. Genet. 1994 3: 279-283; doi:10.1093/hmg/3.2.279 [Abstract] [PDF] [Request Permissions]

Francoise Fougerousse, Odile Broux, Isabelle Richard, Valérie Allamand, Anete Perelra de Souza, Nathalie Bourg, Lydle Brenguler, Catherine Devaud, Patricia Pasturaud, Carinne Roudaut, Nuchanard Chiannilkulchai, Dominique Hillaire, Hung Bui, Ilya Chumakov, Jean Welssenbach, Dorra Cherif, Daniel Cohen, and Jacques S.Beckmann: Mapping of a chromosome 15 region involved in limb girdle muscular dystrophy
Hum. Mol. Genet. 1994 3: 285-293; doi:10.1093/hmg/3.2.285 [Abstract] [PDF] [Request Permissions]

Jochen Reiss and Frauke Rininsland: An explanation for the constitutive exon 9 cassette splicing of the DMD gene
Hum. Mol. Genet. 1994 3: 295-298; doi:10.1093/hmg/3.2.295 [Abstract] [PDF] [Request Permissions]

Hannie Kremer, Alfred Pinckers, Bellinda van den Helm, August F. Deutman, Hans-HIlger Ropers, and Edwin C.M. Mariman: Localizaion of the gene for dominant cystoid macular dystrophy on chromosome 7p
Hum. Mol. Genet. 1994 3: 299-302; doi:10.1093/hmg/3.2.299 [Abstract] [PDF] [Request Permissions]

Ialn Mcintosh, Margaret H. Abbott, Matthew L. Warman, Biorn R. Olsen, and Clair A. Francomano: Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus
Hum. Mol. Genet. 1994 3: 303-307; doi:10.1093/hmg/3.2.303 [Abstract] [PDF] [Request Permissions]

Mltsuyoshl Nakao, James S. Sutcliffe, Becky Durtschl, Aplwat Mutlrangura, David H. Ledbetter, and Arthur L. Beaudet: Imprinting analysis of three genes in the Prader — Willi/Angelman region: SNRPN, E6-associated protein, and PAR-2 (D15S225E)
Hum. Mol. Genet. 1994 3: 309-315; doi:10.1093/hmg/3.2.309 [Abstract] [PDF] [Request Permissions]

Henny H. LemmInk, Léonard A.J. KIuIjtmans, Han G. Brunner, Cornells H. Schröder, Bertrand Knebelmann, Eva JelInková, Bernard A.van Oost, Leo A.H. Monnens, and Hubert J.M. Smeets: Aberrant splicing of the COL4A5 gene in patients with Alport syndrome
Hum. Mol. Genet. 1994 3: 317-322; doi:10.1093/hmg/3.2.317 [Abstract] [PDF] [Request Permissions]

Andreas Gal, Suying Xu, Yoa Piczenik, Hans Eiberg, Christine Duvigneau, Eberhard Schwinger, and Thomas Rosenberg: Gene for autosomal dominant congenital stationary night blindness maps to the same region as the gene for the ß-subunit of the rod photoreceptor cGMP phosphodiesterase (PDEB) in chromosome 4p16.3
Hum. Mol. Genet. 1994 3: 323-325; doi:10.1093/hmg/3.2.323 [Abstract] [PDF] [Request Permissions]

Jacques Simard, Eric Rhéaume, Jean-François Lebianc, Simon C. Wallis, Graham F. Joplln, Stephen Gilbey, Judith Allanson, Gabrielle Mettler, Markus Bettendorf, Udo Heinrich, and Fernand Labrie: Congenital adrenal hyperplasia caused by a novel homozygous frameshift mutation 273 ${Delta}$ AA in type II 3ß-hydroxysteroid dehydrogenase gene (HSD3B2) in three male patients of Afghan/Pakistani origin
Hum. Mol. Genet. 1994 3: 327-330; doi:10.1093/hmg/3.2.327 [Abstract] [PDF] [Request Permissions]

Yasukazu Yamada, Haruko Goto, and Nobuaki Ogasawara: A point mutation responsible for human erythrocyte AMP deaminase deficiency
Hum. Mol. Genet. 1994 3: 331-334; doi:10.1093/hmg/3.2.331 [Abstract] [PDF] [Request Permissions]

Véronique Baud, Alan J. Mears, Valérie Lamour, Christine Scamps, Alessandra M.V. Duncan, Heather E. McDermid, and Marc Liplnski: The E subunit of vacuolar H⁺-ATPase localizes close to the centromere on human chromosome 22
Hum. Mol. Genet. 1994 3: 335-339; doi:10.1093/hmg/3.2.335 [Abstract] [PDF] [Request Permissions]

Jouni Vesa, Elina Hellsten, Barry L. Bamoski, Beverly S. Emanuel, Jeffrey T. Billheimer, Scott Mead, John K. Cowell, Jerome F. Strauss, III, and Leena Peltonen: Assignment of sterol carrier protein X/sterol carrier protein 2 to 1p32 and its exclusion as the causative gene for infantile neuronal ceroid lipofuscinosis
Hum. Mol. Genet. 1994 3: 341-346; doi:10.1093/hmg/3.2.341 [Abstract] [PDF] [Request Permissions]

Richard M. Irving, David A. Moffat, David G. Hardy, David E. Barton, John H. Xuereb, and Eamonn R. Maher: Somatic NF2 gene mutations in familial and non-familial vestibular schwannoma
Hum. Mol. Genet. 1994 3: 347-350; doi:10.1093/hmg/3.2.347 [Abstract] [PDF] [Request Permissions]

Mai Al-Maghtheh, Chris F. Inglehearn, T. Keen Jeffrey, Kevin Evans, Anthony T. Moore, Marcelle Jay, Alan C. Bird, and Shomi S. Bhattacharya: Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19
Hum. Mol. Genet. 1994 3: 351-354; doi:10.1093/hmg/3.2.351 [Abstract] [PDF] [Request Permissions]

Victor Ionasescu, Charles Searby, and Rebecca Ionasescu: Point mutations of the connexin32 (GJB1) gene in X-linked dominant Charcot — Marie — Tooth neuropathy
Hum. Mol. Genet. 1994 3: 355-358; doi:10.1093/hmg/3.2.355 [Abstract] [PDF] [Request Permissions]

Anne E. Hughes, Amanda M. Shearman, James L. Weber, R.John Barr, Richard G.H. Wallace, Paul H. Osterberg, Norman C. Nevin, and Raymond A.B.Mollan: Genetic linkage of familial expansile osteolysis to chromosome 18q
Hum. Mol. Genet. 1994 3: 359-361; doi:10.1093/hmg/3.2.359 [Abstract] [PDF] [Request Permissions]

MUTATION REPORTS:

Alaa Elshafey, W.George Lanyon, and J.Mlchael Connor: Identification of a new missense point mutation in exon 4 of the Cu/Zn superoxide dismutase (SOD-1) gene in a family with amyotrophic lateral sclerosis
Hum. Mol. Genet. 1994 3: 363-364; doi:10.1093/hmg/3.2.363 [PDF] [Request Permissions]

Thierry Bienvenu, Ceclle Cazeneuve, Cherlf Beldjord, Daniel Dusser, Jean Claude Kaplan, and Dominique Hubert: A new missense mutation (G27E) in exon 2 of the CFTR gene in a mildly affected cystic fibrosis patient
Hum. Mol. Genet. 1994 3: 365-366; doi:10.1093/hmg/3.2.365 [PDF] [Request Permissions]

T.Jeffrey Keen, Chris F. Ingleheam, Robert Kim, Alan C. Bird, and Shoml Bhattacharya: Retinal pattern dystrophy associated with a 4 bp insertion at codon 140 in the RDS-peripherin geneother
Hum. Mol. Genet. 1994 3: 367-368; doi:10.1093/hmg/3.2.367 [PDF] [Request Permissions]

Jean-Francois Culard, Marie Desgeorges, Marie-Catherine Romey, Perrine Malzac, Jacques Demaille, and Mireille Claustres: A novel splice site mutation in the first exon of the cystic fibrosis transmembrane regulator (CFTR) gene identified in a CBAVD patient
Hum. Mol. Genet. 1994 3: 369-370; doi:10.1093/hmg/3.2.369 [PDF] [Request Permissions]

Mireille Claustres, Maguelone Laussel, Marie Desgeorges, and Jacques Demallle: Identification of a 6 bp deletion (3195del6) in exon 17a of the cystic fibrosis (CFTR) gene
Hum. Mol. Genet. 1994 3: 371-372; doi:10.1093/hmg/3.2.371 [PDF] [Request Permissions]

Caroline Hayward, Alison L. Rae, Mary E.M. Porteous, Lindsay J. Logie, and David J.H. Brock: Two novel mutations and a neutral polymorphism in EGF-like domains of the fibrillin gene (FBN1): SSCP screening of exons 15–21 in Marfan syndrome patients
Hum. Mol. Genet. 1994 3: 373-375; doi:10.1093/hmg/3.2.373 [PDF] [Request Permissions]

C.A. Skinner and G. Rumsby: Steroid 11ß-hydroxylase deficiency caused by a five base pair duplication in the CYP11B1 gene
Hum. Mol. Genet. 1994 3: 377-378; doi:10.1093/hmg/3.2.377 [PDF] [Request Permissions]

DNA MARKERS AND POLYMORPHISMS:

Joseph Giacalone and Uta Francke: Single nucleotide dimorphism in the transcribed region of the SNRPN gene at 15q12
Hum. Mol. Genet. 1994 3: 379; doi:10.1093/hmg/3.2.379 [PDF] [Request Permissions]

A.M. Deyo, T.C. Matise, Y.M. Perry, and R.E. Ferrell: Chromosome 13 and chromosome 2 (CA)_n polymorphisms
Hum. Mol. Genet. 1994 3: 380; doi:10.1093/hmg/3.2.380 [PDF] [Request Permissions]

A.Pereira de Souza, V. Allamand, I. Richard, L. Brenguier, and J.S. Beckmann: Three dinucleotide markers on chromosome 21
Hum. Mol. Genet. 1994 3: 381; doi:10.1093/hmg/3.2.381 [PDF] [Request Permissions]

V. Allamand, A.Pereira de Souza, I. Richard, L. Brenguier, and J.S. Beckmann: Dinucleotide repeat polymorphism at D15S221
Hum. Mol. Genet. 1994 3: 382; doi:10.1093/hmg/3.2.382 [PDF] [Request Permissions]

A.Pereira de Souza, V. Allamand, l. Richard, L. Brenguier, and J.S. Beckmann: Two dinucleotide repeats tightly linked to D12S91
Hum. Mol. Genet. 1994 3: 382; doi:10.1093/hmg/3.2.382-a [PDF] [Request Permissions]

J. Gelernter and M. Freimer: Pstl RFLP at the SERT locus
Hum. Mol. Genet. 1994 3: 383; doi:10.1093/hmg/3.2.383 [PDF] [Request Permissions]

K. Ward, R. Riley, J. Lu, K. Fillmore, M. Robertson, and L. Nelson: Tetranucleotide repeat polymorphism at the D8S474 locus
Hum. Mol. Genet. 1994 3: 383; doi:10.1093/hmg/3.2.383-a [PDF] [Request Permissions]

H. Verreault, I. Dufort, J. Simard, F. Labrie, and V. Luu-The: Dinucleotide repeat polymorphisms in the HSD3B2 gene
Hum. Mol. Genet. 1994 3: 384; doi:10.1093/hmg/3.2.384 [PDF] [Request Permissions]

P.de Knijf, F. Green, L.G. Johansen, D. Grootendorst, A. Temple, J.K. Cruickshank, S.E. Humphries, J. Jespersen, and C. Kluft: New alleles in F7 VNTR
Hum. Mol. Genet. 1994 3: 384; doi:10.1093/hmg/3.2.384-a [PDF] [Request Permissions]

L. Ye, J. Nakura, T. Miki, K. Kihara, K. Nagano, N. Mitsuda, K. Kamino, T. Ogihara, A. Takahashi-Fujii, and Y. Ishino: Dinucleotide repeat polymorphism at D7S813
Hum. Mol. Genet. 1994 3: 385; doi:10.1093/hmg/3.2.385 [PDF] [Request Permissions]

D.S. Greenspan and A.E. Pasquinelli: BstUI and Dpnll RFLPs at the COL5A1 gene
Hum. Mol. Genet. 1994 3: 385; doi:10.1093/hmg/3.2.385-a [PDF] [Request Permissions]

S. Rainier, C.J. Dobry, and A.P. Feinberg: Transcribed dinucleotide repeat polymorphism in the IGF2 gene
Hum. Mol. Genet. 1994 3: 386; doi:10.1093/hmg/3.2.386 [PDF] [Request Permissions]

L.S. Sullivan, J. Parrish, M.J. Wagner, D. Wells, S.H. Blanton, and S.P. Daiger: Tetranucleotide repeat polymorphism (D8S582) for human EST00680 (D8S340E)
Hum. Mol. Genet. 1994 3: 386; doi:10.1093/hmg/3.2.386-a [PDF] [Request Permissions]

J. Takeda, C.L. Blackbum, S. Menzel, H. Yano, and G.I. Bell: Dinucleotide repeat polymorphism at D9S328E (EST hbc220)
Hum. Mol. Genet. 1994 3: 387; doi:10.1093/hmg/3.2.387 [PDF] [Request Permissions]

U. Matysiak-Scholze and G. Scherer: TaqI/Clal polymorphism in the P4HB gene
Hum. Mol. Genet. 1994 3: 387; doi:10.1093/hmg/3.2.387-a [PDF] [Request Permissions]

P.H. Yen, E. Salido, L. Shapiro, and T. Mohandas: An EcoRI RFLP at the D6S509E locus
Hum. Mol. Genet. 1994 3: 388; doi:10.1093/hmg/3.2.388 [PDF] [Request Permissions]

P. Yen and H. Lin: Dinucleotide repeat polymorphism at the DXS1283E locus
Hum. Mol. Genet. 1994 3: 388; doi:10.1093/hmg/3.2.388-a [PDF] [Request Permissions]

P.E. Hollings and P.W. Gray: EcoRl and BglII polymorphisms at the BPI-locus
Hum. Mol. Genet. 1994 3: 389; doi:10.1093/hmg/3.2.389 [PDF] [Request Permissions]

M.-G.Le Roux, O. Pascal, A. Lostanlen, I. Bérard, O. Vergnaud, and J.-P. Moisan: VNTR at the DXYS14 locus
Hum. Mol. Genet. 1994 3: 389; doi:10.1093/hmg/3.2.389-a [PDF] [Request Permissions]

S.J. Payne, F.M. Richards, and E.R. Maher: A PCR generated AccI RFLP in the 3' untranslated region of the von Hippel — Lindau disease (VHL) tumour suppressor gene
Hum. Mol. Genet. 1994 3: 390; doi:10.1093/hmg/3.2.390 [PDF] [Request Permissions]

H. Nakashima, M. Sakai, R. Inaba, and T. Imamura: Dinucleotide repeat polymorphism at the D18S336 locus
Hum. Mol. Genet. 1994 3: 390; doi:10.1093/hmg/3.2.390-a [PDF] [Request Permissions]

Author index:

: Author index
Hum. Mol. Genet. 1994 3: 391; doi:10.1093/hmg/3.2.391 [PDF] [Request Permissions]

ERRATUM:

A. Sander, M.A. Kennedy, J.C. Rayner, and J.C. Murray: Dinucleotide repeat polymorphism for HLX1 gene
Hum. Mol. Genet. 1994 3: 392; doi:10.1093/hmg/3.2.392 [Abstract] [PDF] [Request Permissions]