Hum. Mol. Genet. -- Table of Contents (2 [4] )

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Contents: Volume 2, Number 4   April 1993   [Index by Author]

       MINI REVIEW

       ORIGINAL ARTICLES

       SHORT REPORTS

       MUTATION REPORTS

       DNA MARKERS AND POLYMORPHISMS

       Author index

       ERRATUM

       Corrigendum

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MINI REVIEW:

Gillian Bates and Hans Lehrach: The Huntington disease gene—still a needle in a haystack?
Hum. Mol. Genet. 1993 2: 343-347; doi:10.1093/hmg/2.4.343 [PDF] [Request Permissions]

ORIGINAL ARTICLES:

Koen Kas, Günther Weber, Jozef Merregaert, Luc Michiels, Kerstin Sandelin, Britt Skogseid, Norman Thompson, Magnus Nordenskjöld, Catharina Larsson, and Eitan Friedman: Exclusion of FAU as the Multiple Endocrine Neoplasia type 1 (MEN1) gene
Hum. Mol. Genet. 1993 2: 349-353; doi:10.1093/hmg/2.4.349 [Abstract] [PDF] [Request Permissions]

Serge Amselem, Philippe Duquesnoy, Bénédicte Duriez, Florence Dastot, Marie-Laure Sobrier, Sophie Valleix, and Michel Goossens: Spectrum of growth hormone receptor mutations and associated haplotypes in Laron syndrome
Hum. Mol. Genet. 1993 2: 355-359; doi:10.1093/hmg/2.4.355 [Abstract] [PDF] [Request Permissions]

Ytje Y. van der Hoek, Marianne E. Wittekoek, Ulrike Beisiegel, John J.P. Kastelein, and MarlysL. Koschinsky: The apolipoprotein(a) kringle IV repeats which differ from the major repeat kringle are present in variably-sized isoforms
Hum. Mol. Genet. 1993 2: 361-366; doi:10.1093/hmg/2.4.361 [Abstract] [PDF] [Request Permissions]

Corinna Holst, Christine Skerka, Peter Lichter, Alexandra Bialonski, and Peter F. Zipfel: Genomic organization, chromosomal localization and promoter function of the human zinc-finger gene pAT133
Hum. Mol. Genet. 1993 2: 367-372; doi:10.1093/hmg/2.4.367 [Abstract] [PDF] [Request Permissions]

Jean-Pierre Hardelin, Jacqueline Levilliers, Stéphane Blanchard, Jean-Claude Carel, Marc Leutenegger, Jean-Pierre Pinard-Bertelletto, Pierre Bouloux, and Christine Petit: Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome
Hum. Mol. Genet. 1993 2: 373-377; doi:10.1093/hmg/2.4.373 [Abstract] [PDF] [Request Permissions]

John H. McVey, Katerina Michaelides, Linda P. Hansen, Malcolm Ferguson-Smith, Shirley Tilghman, Robb Krumlauf, and Edward G.D. Tuddenham: A G $->$ A substitution in an HNF I binding site in the human ${alpha}$ -fetoprotein gene is associated with hereditary persistence of ${alpha}$ -fetoprotein (HPAFP)
Hum. Mol. Genet. 1993 2: 379-384; doi:10.1093/hmg/2.4.379 [Abstract] [PDF] [Request Permissions]

Roger A. Bascom, Keith Schappert, and Roderick R. Mclnnes: Cloning of the human and murine ROM1 genes: genomic organization and sequence conservation
Hum. Mol. Genet. 1993 2: 385-391; doi:10.1093/hmg/2.4.385 [Abstract] [PDF] [Request Permissions]

B. Costes, E. Girodon, N. Ghanem, M. Chassignol, N.T. Thuong, D. Dupret, and M. Goossens: Psoralen-modified oligonucleotide primers improve detection of mutations by denaturing gradient gel electrophoresis and provide an alternative to GC-clamping
Hum. Mol. Genet. 1993 2: 393-397; doi:10.1093/hmg/2.4.393 [Abstract] [PDF] [Request Permissions]

Annemieke J.M.H. Verkerk, Esther de Graaff, Kristel De Boulle, Evan E. Eichler, David S. Konecki, Edwin Reyniers, Antonella Manca, Annemarie Poustka, Patrick J. Willems, David L. Nelson, and Ben A. Oostra: Alternative splicing in the fragile X gene FMR1
Hum. Mol. Genet. 1993 2: 399-404; doi:10.1093/hmg/2.4.399 [Abstract] [PDF] [Request Permissions]

Victor V. lonasescu, Rebecca lonasescu, Charles Searby, and David F. Barker: Charcot — Marie — Tooth neuropathy type 1A with both duplication and non-duplication
Hum. Mol. Genet. 1993 2: 405-410; doi:10.1093/hmg/2.4.405 [Abstract] [PDF] [Request Permissions]

X.Y. Hauge and M. Litt: A study of the origin of ‘shadow bands’ seen when typing dinucleotide repeat polymorphisms by the PCR
Hum. Mol. Genet. 1993 2: 411-415; doi:10.1093/hmg/2.4.411 [Abstract] [PDF] [Request Permissions]

Matthijs J. Smith, Paul J. Goodfellow, and Peter N. Goodfellow: The genomic organisation of the human pseudoautosomal gene MIC2 and the detection of a related locus
Hum. Mol. Genet. 1993 2: 417-422; doi:10.1093/hmg/2.4.417 [Abstract] [PDF] [Request Permissions]

Hee-Chan Seo, Patrick J. Willems, Keith A. Kretz, Brian M. Martin, and John S. O'Brien: Fucosidosis: four new mutations and a new polymorphism
Hum. Mol. Genet. 1993 2: 423-429; doi:10.1093/hmg/2.4.423 [Abstract] [PDF] [Request Permissions]

Melanie M. Mahtani and Huntington F. Willard: A polymorphic X-linked tetranucleotide repeat locus displaying a high rate of new mutation: implications for mechanisms of mutation at short tandem repeat loci
Hum. Mol. Genet. 1993 2: 431-437; doi:10.1093/hmg/2.4.431 [Abstract] [PDF] [Request Permissions]

David I. Rodenhiser, Marion B. Coulter-Mackie, and Shiva M. Singh: Evidence of DNA methylation in the neurofibromatosis type 1 (NF1) gene region of 17q11.2
Hum. Mol. Genet. 1993 2: 439-444; doi:10.1093/hmg/2.4.439 [Abstract] [PDF] [Request Permissions]

Carolyn Williams, Derek Davies, and Robert Williamson: Segregation of ${Delta}$ F508 and normal CFTR alleles in human sperm
Hum. Mol. Genet. 1993 2: 445-448; doi:10.1093/hmg/2.4.445 [Abstract] [PDF] [Request Permissions]

Kathy Chun, Neviana MacKay, Roumyana Petrova-Benedict, and Brian H. Robinson: Mutations in the X-linked E1 ${alpha}$ subunit of pyruvate dehydrogenase leading to deficiency of the pyruvate dehydrogenase complex
Hum. Mol. Genet. 1993 2: 449-454; doi:10.1093/hmg/2.4.449 [Abstract] [PDF] [Request Permissions]

Anna Maria Guerrini, Barbara Camponeschi, Fiorentina Ascenzioni, Enza Piccolella, and Pierluigi Donini: Subtelomeric as well as telomeric sequences are lost from chromosomes in proliferating B lymphocytes
Hum. Mol. Genet. 1993 2: 455-460; doi:10.1093/hmg/2.4.455 [Abstract] [PDF] [Request Permissions]

SHORT REPORTS:

Ann-Marie Leahey, Lawrence R. Charnas, and Robert L. Nussbaum: Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe
Hum. Mol. Genet. 1993 2: 461-463; doi:10.1093/hmg/2.4.461 [Abstract] [PDF] [Request Permissions]

Danielle Pham-Dinh, Odile Boespflug-Tanguy, Corinne Mimault, Annie Cavagna, Geneviève Giraud, Gérard Leberre, Bernard Lemarec, and André Dautigny: Pelizaeus — Merzbacher disease: a frameshift deletion/insertion event in the myelin proteolipid gene
Hum. Mol. Genet. 1993 2: 465-467; doi:10.1093/hmg/2.4.465 [Abstract] [PDF] [Request Permissions]

Elizabeth Simpson, Phillip Chandler, Els Goulmy, Kun Ma, Timothy B. Hargreave, and Ann C. Chandley: Loss of the ‘azoospermia factor’ (AZF) on Yq in man is not associated with loss of HYA
Hum. Mol. Genet. 1993 2: 469-471; doi:10.1093/hmg/2.4.469 [Abstract] [PDF] [Request Permissions]

MUTATION REPORTS:

Fumie Takakubo, David R. Thorburn, and Hans-Henrik M. Dahl: A four-nucleotide insertion hotspot in the X chromosome located pyruvate dehydrogenase E1 ${alpha}$ gene (PDHA1)
Hum. Mol. Genet. 1993 2: 473-474; doi:10.1093/hmg/2.4.473 [PDF] [Request Permissions]

D.R. Hewett, J.R. Lynch, R. Smith, and B.C. Sykes: A novel fibrillin mutation in the Marfan syndrome which could disrupt calcium binding of the epidermal growth factor-like module
Hum. Mol. Genet. 1993 2: 475-477; doi:10.1093/hmg/2.4.475 [PDF] [Request Permissions]

DNA MARKERS AND POLYMORPHISMS:

Thierry Normand, Steven Narod, Fernand Labrie, and Jacques Simard: Detection of polymorphisms in the estradiol 17ß-hydroxysteroid dehydrogenase II gene at the EDH17B2 locus on 17q11–q21
Hum. Mol. Genet. 1993 2: 479-483; doi:10.1093/hmg/2.4.479 [Abstract] [PDF] [Request Permissions]

Øivind Nilssen, Ole Kristian Tollersrud, Olav Borud, and Lisbeth Tranebjærg: A simple and rapid PCR based method for AGU_Fin determination
Hum. Mol. Genet. 1993 2: 484; doi:10.1093/hmg/2.4.484 [PDF] [Request Permissions]

Ludwine Messiaen, Sylvia De Bie, Tanya Moens, Apollonia Van den Enden, and Jules Leroy: Lack of independence between five DNA polymorphisms in the NF1 gene
Hum. Mol. Genet. 1993 2: 485; doi:10.1093/hmg/2.4.485 [PDF] [Request Permissions]

Ann F. Weinmann, Alexander P. Reiner, and Arthur R. Thompson: A polymorphic Msel site 5' to the factor IX gene varies among ethnic groups
Hum. Mol. Genet. 1993 2: 486; doi:10.1093/hmg/2.4.486 [PDF] [Request Permissions]

Frank G. Hustmyer, Hector F. DeLuca, and Munro Peacock: Apal, Bsml, EcoRV and Taql polymorphisms at the human vitamin D receptor gene locus in Caucasians, Blacks and Asians
Hum. Mol. Genet. 1993 2: 487; doi:10.1093/hmg/2.4.487 [PDF] [Request Permissions]

Brage S. Andresen, Steen Kølvraa, Peter Bross, Lars Bolund, Diana Curtis, Hans Eiberg, Zhifang Zhang, Daniel P. Kelly, Arnold W. Strauss, and Niels Gregersen: A silent A to G mutation in exon 11 of the medium-chain acyl-CoA dehydrogenase (MCAD) gene
Hum. Mol. Genet. 1993 2: 488; doi:10.1093/hmg/2.4.488 [PDF] [Request Permissions]

Danilo A. Tagle, Kristina L. Blanchard-McQuate, John Valdes, Lucio Castilla, Marcy E. MacDonald, James F. Gusella, and Francis S. Collins: Dinucleotide repeat polymorphism in the Huntington's disease region at the D4S182 locus
Hum. Mol. Genet. 1993 2: 489; doi:10.1093/hmg/2.4.489 [PDF] [Request Permissions]

Mihael H. Polymeropoulos, Hong Xiao, Susan E. Ide, and Carl R. Merril: Dinucleotide repeat polymorphism at the D14S99E locus
Hum. Mol. Genet. 1993 2: 490; doi:10.1093/hmg/2.4.490 [PDF] [Request Permissions]

S. Todd and S. L. Naylor: Dinucleotide repeat polymorphisms at the D2S108 and D2S109 loci
Hum. Mol. Genet. 1993 2: 490; doi:10.1093/hmg/2.4.490-a [PDF] [Request Permissions]

D.R. Love, E. Gardner, and B.A.J. Ponder: A polymorphic dinucleotide repeat at the D10S141 locus
Hum. Mol. Genet. 1993 2: 491; doi:10.1093/hmg/2.4.491 [PDF] [Request Permissions]

D.R. Love, E. Gardner, and B.A.J. Ponder: A polymorphic dinucleotide repeat at the ZNF22 locus
Hum. Mol. Genet. 1993 2: 491; doi:10.1093/hmg/2.4.491-a [PDF] [Request Permissions]

M.F. Moffatt: Dinucleotide repeat polymorphism at the D11S480 locus
Hum. Mol. Genet. 1993 2: 492; doi:10.1093/hmg/2.4.492 [PDF] [Request Permissions]

Ute Linz, Lothar Schleithoff, Johannes W.G. Janssen, Claus R. Bartram, and C.R. MüIIer: A Pvull-polymorphism within the AXL gene on chromosome 19q13.1
Hum. Mol. Genet. 1993 2: 492; doi:10.1093/hmg/2.4.492-a [PDF] [Request Permissions]

H.F.B.M. Sleddens, B.A. Oostra, A.O. Brinkmann, and J. Trapman: Trinucleotide (GGN) repeat polymorphism in the human androgen receptor (AR) gene
Hum. Mol. Genet. 1993 2: 493; doi:10.1093/hmg/2.4.493 [PDF] [Request Permissions]

Author index:

: Author index
Hum. Mol. Genet. 1993 2: 495; doi:10.1093/hmg/2.4.495 [PDF] [Request Permissions]

ERRATUM:

S. Akli, J.C. Chomel, J.M. Lacorte, L. Bachner, A. Kahn, and L. Poenaru: Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients
Hum. Mol. Genet. 1993 2: 496; doi:10.1093/hmg/2.4.496 [Abstract] [PDF] [Request Permissions]

Corrigendum:

M.P. Audrézet, B. Mercier, H. Guillermit, I. Quéré, C. Verlingue, G. Rault, and C. Férec: Identification of 12 novel mutations in the CFTR gene
Hum. Mol. Genet. 1993 2: 496; doi:10.1093/hmg/2.4.496-a [Abstract] [PDF] [Request Permissions]

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Human Molecular Genetics