Human Molecular Genetics

ARTICLES:

Beat Lutz, Shigeru Kuratani, Elena I. Rugarli, Stefan Wawersik, Calvin Wong, Frederick R. Bieber, Andrea Ballabio, and Gregor Eichele

Expression of the Kallmann syndrome gene in human fetal brain and in the manipulated chick embryo
Hum. Mol. Genet. 1994 3: 1717-1723; doi:10.1093/hmg/3.10.1717 [Abstract] [PDF] [Request Permissions]  

Jill A. Rafael, Yoshihide Sunada, Neil M. Cole, Kevin P. Campbell, John A. Faulkner, and Jeffrey S. Chamberlain

Prevention of dystrophic pathology in mdx mice by a truncated dystrophin isoform
Hum. Mol. Genet. 1994 3: 1725-1733; doi:10.1093/hmg/3.10.1725 [Abstract] [PDF] [Request Permissions]  

Andrew Peterson, Nila Patil, Carolyn Robbins, Lisa Wang, David R. Cox, and Richard M. Myers

A transcript map of the Down syndrome critical region on chromosome 21
Hum. Mol. Genet. 1994 3: 1735-1742; doi:10.1093/hmg/3.10.1735 [Abstract] [PDF] [Request Permissions]  

Tracy L. Hagemann, Yuexin Chen, Fred S. Rosen, and Sau-Ping Kwan

Genomic organization of the Btk gene and exon scanning for mutations in patients with X-linked agammaglobulinemia
Hum. Mol. Genet. 1994 3: 1743-1749; doi:10.1093/hmg/3.10.1743 [Abstract] [PDF] [Request Permissions]  

REPORTS:

Mary Ellen Conley, Marjorie E. Fitch-Hilgenberg, John L. Cleveland, Ornella Parolini, and Jurg Rohrer

Screening of genomic DNA to identify mutations in the gene for Bruton's tyrosine kinase
Hum. Mol. Genet. 1994 3: 1751-1756; doi:10.1093/hmg/3.10.1751 [Abstract] [PDF] [Request Permissions]  

Denise A. Figlewicz, Aldis Krizus, Maria G. Martinoli, Vincent Meininger, Michel Dib, Guy A. Rouleau, and Jean-Pierre Julien

Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis
Hum. Mol. Genet. 1994 3: 1757-1761; doi:10.1093/hmg/3.10.1757 [Abstract] [PDF] [Request Permissions]  

J. Poulton, K. Morten, C. Freeman-Emmerson, C. Potter, C. Sewry, V. Dubowitz, H. Kidd, J. Stephenson, W. Whitehouse, F.J. Hansen, M. Parisi, and G. Brown

Deficiency of the human mitochondrial transcription factor h-mtTFA in infantile mitochondrial myopathy is associated with mtDNA depletion
Hum. Mol. Genet. 1994 3: 1763-1769; doi:10.1093/hmg/3.10.1763 [Abstract] [PDF] [Request Permissions]  

Emily Gardner, Lois M. Mulligan, Charis Eng, Catherine S. Healey, John B.J. Kwok, Margaret A. Ponder, and Bruce A.J. Ponder

Haplotype analysis of MEN 2 mutations
Hum. Mol. Genet. 1994 3: 1771-1774; doi:10.1093/hmg/3.10.1771 [Abstract] [PDF] [Request Permissions]  

Günther Weber, Eitan Friedman, Sean Grimmond, Nicholas K. Hayward, Catherine Phelan, Britt Skogseid, Anders Gobl, Jan Zedenius, Kerstin Sandelin, Bin Tean Teh, Emma Carson, Irene White, Kjell Öberg, Joseph Shepherd, Magnus Nordenskjöld, and Catharina Larsson

The phospholipase C ß3 gene located in the MEN1 region shows loss of expression in endocrine tumours
Hum. Mol. Genet. 1994 3: 1775-1781; doi:10.1093/hmg/3.10.1775 [Abstract] [PDF] [Request Permissions]  

Gregory D. Frederick, Robin H. Amirkhan, Roger A. Schultz, and Errol C. Friedberg

Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene
Hum. Mol. Genet. 1994 3: 1783-1788; doi:10.1093/hmg/3.10.1783 [Abstract] [PDF] [Request Permissions]  

Lisbet Lind, Anita Lundström, Per-Åke Hofer, and Gösta Holmgren

The gene for diffuse palmoplantar keratoderma of the type found in northern Sweden is localized to chromosome 12q11-q13
Hum. Mol. Genet. 1994 3: 1789-1793; doi:10.1093/hmg/3.10.1789 [Abstract] [PDF] [Request Permissions]  

Christine M. Eng, Dana J. Niehaus, Annette L. Enriquez, Tania S. Burgert, Mark D. Ludman, and RobertJ. Desnick

Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the -galactosidase A gene
Hum. Mol. Genet. 1994 3: 1795-1799; doi:10.1093/hmg/3.10.1795 [Abstract] [PDF] [Request Permissions]  

Ulla Bengtsson, Michael R. Altherr, John J. Wasmuth, and Sara T. Winokur

High resolution fluorescence in situ hybridization to linearly extended DNA visually maps a tandem repeat associated with facioscapulohumeral muscular dystrophy immediately adjacent to the telomere of 4q
Hum. Mol. Genet. 1994 3: 1801-1805; doi:10.1093/hmg/3.10.1801 [Abstract] [PDF] [Request Permissions]  

Hiroyoshi Fujita, Masao Kondo, Shigeru Taketani, Nakao Nomura, Kazumichi Furuyama, Relko Akagi, Tadashi Nagai, Masanori Terajima, Richard A. Galbraith, and Shigeru Sassa

Characterization and expression of cDNA encoding coproporphyrinogen oxidase from a patient with hereditary coproporphyria
Hum. Mol. Genet. 1994 3: 1807-1810; doi:10.1093/hmg/3.10.1807 [Abstract] [PDF] [Request Permissions]  

Nila Patil, Andrew Peterson, Alana Rothman, Pieter J.de Jong, Richard M. Myers, and David R. Cox

A high resolution physical map of 2.5 Mbp of the Down syndrome region on chromosome 21
Hum. Mol. Genet. 1994 3: 1811-1817; doi:10.1093/hmg/3.10.1811 [Abstract] [PDF] [Request Permissions]  

Anne-Françoise Roux, T.T. Van Nguyen, Jeremy A. Squire, and Diane W. Cox

A heat shock gene at 14q22: mapping and expression
Hum. Mol. Genet. 1994 3: 1819-1822; doi:10.1093/hmg/3.10.1819 [Abstract] [PDF] [Request Permissions]  

Ans M.W. van den Ouweland, Wout H. Deelen, Catherine B. Kunst, Maria-Luisa Giovannucci Uzielli, David L. Nelson, Stephen T. Warren, Ben A. Oostra, and Dicky J.J. Halley

Loss of mutation at the FMR1 locus through multiple exchanges between maternal X chromosomes
Hum. Mol. Genet. 1994 3: 1823-1827; doi:10.1093/hmg/3.10.1823 [Abstract] [PDF] [Request Permissions]  

Caterina Carbonara, Lucia Longa, Enrico Grosso, Carla Borrone, Maria Grazia Garré, Massimo Brisigotti, and Nicola Migone

9q34 loss of heterozygosity in a tuberous sclerosis astrocytoma suggests a growth suppressor-like activity also for the TSC1 gene
Hum. Mol. Genet. 1994 3: 1829-1832; doi:10.1093/hmg/3.10.1829 [Abstract] [PDF] [Request Permissions]  

Andrew J. Green, Philip H. Johnson, and John R.W. Yates

The tuberous sclerosis gene on chromosome 9q34 acts as a growth suppressor
Hum. Mol. Genet. 1994 3: 1833-1834; doi:10.1093/hmg/3.10.1833 [Abstract] [PDF] [Request Permissions]  

Ning Li, David S. Rosenblatt, Barton A. Kamen, Shakuntla Seetharam, and Bellur Seetharam

Identification of two mutant alleles of transcobalamin II in an affected family
Hum. Mol. Genet. 1994 3: 1835-1840; doi:10.1093/hmg/3.10.1835 [Abstract] [PDF] [Request Permissions]  

Keisuke Ueki, Mari-Paz Rubio, Vijaya Ramesh, Katia M. Correa, Joni L. Rutter, Andreas von Deimling, Alan J. Buckler, James F. Gusella, and David N. Louis

MTS1/CDKN2 gene mutations are rare in primary human astrocytomas with allelic loss of chromosome 9p
Hum. Mol. Genet. 1994 3: 1841-1845; doi:10.1093/hmg/3.10.1841 [Abstract] [PDF] [Request Permissions]  

Roberto A. Macina, Dmitri G. Negorev, Chrysanthe Spais, Lisa A. Ruthig, Xue-Lan Hu, and Harold C. Riethman

Sequence organization of the human chromosome 2q telomere
Hum. Mol. Genet. 1994 3: 1847-1853; doi:10.1093/hmg/3.10.1847 [Abstract] [PDF] [Request Permissions]  

Katherine E. Keating, Kathleen A. Quane, Bernadette M. Manning, Mary Lehane, Edmund Hartung, Kathrin Censier, Albert Urwyler, Monika Klausnitzer, Clemens R. Muller, James J.A. Heffron, and Tommie V. McCarthy

Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees
Hum. Mol. Genet. 1994 3: 1855-1858; doi:10.1093/hmg/3.10.1855 [Abstract] [PDF] [Request Permissions]  

Christophe Vincent, Vasiliki Kalatzis, Sylvie Compain, Jacqueline Levilliers, Rima Slim, Fatima Graia, Maria de Lurdes Pereira, Annie Nivelon, Marie-France Croquette, Didier Lacombe, Jacqueline Vigneron, Jocelyne Helias, Michel Broyer, David F. Callen, Eric A. Haan, Jean Weissenbach, Bruno Lacroix, Christine Bellané-Chantelot, Denis Le Paslier, Daniel Cohen, and Christine Petit

A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR gene
Hum. Mol. Genet. 1994 3: 1859-1866; doi:10.1093/hmg/3.10.1859 [Abstract] [PDF] [Request Permissions]  

Afif Hentati, Margaret A. Pericak-Vance, Felicia Lennon, Brad Wasserman, Faycal Hentati, Tony Juneja, Misha H. Angrist, Wu-Yen Hung, Rose-Mary Boustany, Saeed Bohlega, Zafar Iqbal, Carl H. Huether, Mongi Ben Hamida, and Teepu Siddique

Linkage of a locus for autosomal dominant familial spastic paraplegia to chromosome 2p markers
Hum. Mol. Genet. 1994 3: 1867-1871; doi:10.1093/hmg/3.10.1867 [Abstract] [PDF] [Request Permissions]  

Adam H. Carey, Dawn Waterworth, Kirty Patel, Davinia White, Julie Little, Patricia Novelli, Stephen Franks, and Robert Williamson

Polycystic ovaries and premature male pattern baldness are associated with one allele of the steroid metabolism gene CYP17
Hum. Mol. Genet. 1994 3: 1873-1876; doi:10.1093/hmg/3.10.1873 [Abstract] [PDF] [Request Permissions]  

Rachel Wevrick, Julie A. Kerns, and Uta Francke

Identification of a novel paternally expressed gene in the Prader - Willi syndrome region
Hum. Mol. Genet. 1994 3: 1877-1883; doi:10.1093/hmg/3.10.1877 [Abstract] [PDF] [Request Permissions]  

Michael Marble, Michael T. Geraghty, Raffaella de Franchis, Jan P. Kraus, and David Vailed

Characterization of a cystathionine ß-synthase allele with three mutations in cis in a patient with B₆ nonresponsive homocystinuria
Hum. Mol. Genet. 1994 3: 1883-1886; doi:10.1093/hmg/3.10.1883 [Abstract] [PDF] [Request Permissions]  

MUTATION REPORTS:

Angeliki Balassopoulou, Manos Papadakis, and Dimitris Loukopoulos

A novel nonsense mutation identified in the first nucleotide binding fold of the CFTR gene in a Greek patient
Hum. Mol. Genet. 1994 3: 1887-1888; doi:10.1093/hmg/3.10.1887 [PDF] [Request Permissions]  

A. Barceló, M. Girós, C.O. Sarde, A. Martínez-Bermejo, J.L. Mandel, T. Pámpols, and X. Estivill

Identification of a new frameshift mutation (1801delAG) in the ALD gene
Hum. Mol. Genet. 1994 3: 1889-1890; doi:10.1093/hmg/3.10.1889 [PDF] [Request Permissions]  

Andreas Winterpacht, Ulrike Schwarze, Stefan Mundlos, Hartmut Menger, Jürgen Spranger, and Bernhard Zabel

Alternative splicing as the result of a type II procollagen gene (COL2A1) mutation in a patient with Kniest dysplasia
Hum. Mol. Genet. 1994 3: 1891-1893; doi:10.1093/hmg/3.10.1891 [PDF] [Request Permissions]  

James E. Blaugrund, Michael M. Johns, Jr, Yolanda J. Eby, Douglas W. Ball, Stephen B. Baylin, Ralph H. Hruban, and David Sidransky

RET proto-oncogene mutations in inherited and sporadic medullary thyroid cancer
Hum. Mol. Genet. 1994 3: 1895-1897; doi:10.1093/hmg/3.10.1895 [PDF] [Request Permissions]  

Qili Zhu, Min Zhang, Jerry Winkelstein, Shi-Han Chen, and Hans D. Ochs

Unique mutations of Bruton's tyrosine kinase in fourteen unrelated X-linked agammaglobulinemia families
Hum. Mol. Genet. 1994 3: 1899-1900; doi:10.1093/hmg/3.10.1899 [PDF] [Request Permissions]  

Allan J. Richards, Paolo Narcisi, Carole Ferguson, Jan M. Cobben, and F.Michael Pope

Two new mutations affecting the donor splice site of COL3A1 IVS37 and causing skipping of exon 37 in patients with Ehlers—Danlos syndrome type IV
Hum. Mol. Genet. 1994 3: 1901-1902; doi:10.1093/hmg/3.10.1901 [PDF] [Request Permissions]  

Sigrid Fuchs, Claude Olivier Sarde, Heike Wedemann, Eberhard Schwinger, Jean Louis Mandel, and Andreas Gal

Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD)
Hum. Mol. Genet. 1994 3: 1903-1905; doi:10.1093/hmg/3.10.1903 [PDF] [Request Permissions]  

Vincenzo Nigro, Giovanni Nigro, Maria Grazia Esposito, Lucia Ines Comi, Anna Maria Molinari, Giovanni Alfredo Puca, and Luisa Politano

Novel small mutations along the DMD/BMD gene associated with different phenotypes
Hum. Mol. Genet. 1994 3: 1907-1908; doi:10.1093/hmg/3.10.1907 [PDF] [Request Permissions]  

Christian Baudoin, Corinne Miquel, Laurent Gagnoux-Palacios, Leena Pulkkinen, Angela M. Christiano, Jouni Uitto, Gianluca Tadini, Jean-Paul Ortonne, and Guerrino Meneguzzl

A novel homozygous nonsense mutation in the LAMC2 gene in patients with the Herlitz junctional epidermolysis bullosa
Hum. Mol. Genet. 1994 3: 1909-1910; doi:10.1093/hmg/3.10.1909 [PDF] [Request Permissions]  

DNA MARKERS AND POLYMORPHISMS:

M.H. Jones, T. Sato, H. Saito, A. Tanigami, and Y. Nakamura

Six microsatellite polymorphisms at candidate and confirmed tumour suppressor gene loci
Hum. Mol. Genet. 1994 3: 1911; doi:10.1093/hmg/3.10.1911 [PDF] [Request Permissions]  

J. Gabriel, W. Gottlieb, A. Garcia, P.K. Rogan, S. Saitoh, and R.D. Nicholls

A common insertion/deletion polymorphism in the Prader—Willi syndrome minimal critical region
Hum. Mol. Genet. 1994 3: 1912; doi:10.1093/hmg/3.10.1912 [PDF] [Request Permissions]  

K. Ward, L. Nelson, J. Lu, M. Petterson, K. Fillmore, and R. Riley

Tetranucleotide repeat polymorphism at the D8S492 locus
Hum. Mol. Genet. 1994 3: 1913; doi:10.1093/hmg/3.10.1913 [PDF] [Request Permissions]  

D.F. Barker, P. Cordray, and P.R. Fain

The same polymorphism identified by the DXS571(B) and DXS1105 loci
Hum. Mol. Genet. 1994 3: 1913; doi:10.1093/hmg/3.10.1913-a [PDF] [Request Permissions]  

D. Bourn and T. Strachan

Dinucleotide repeat polymorphism at the NF2 gene
Hum. Mol. Genet. 1994 3: 1914; doi:10.1093/hmg/3.10.1914 [PDF] [Request Permissions]  

A. Renieri, L. Galli, J. Zhou, A. Ballabio, and M. De Marchi

A Bg/II polymorphism in the COL4A6 gene
Hum. Mol. Genet. 1994 3: 1914; doi:10.1093/hmg/3.10.1914-a [PDF] [Request Permissions]  

S.A. Jordan and P. Humphries

Single nucleotide polymorphism in exon 2 of the BCP gene on 7q31 - q35
Hum. Mol. Genet. 1994 3: 1915; doi:10.1093/hmg/3.10.1915 [PDF] [Request Permissions]  

J. De Jonckheere, J.E. Nelson, K.A. Ginsburg, L. Martin, and S.A. Krawetz

GA repeat polymorphism at the PRM2 male fertility locus
Hum. Mol. Genet. 1994 3: 1915; doi:10.1093/hmg/3.10.1915-a [PDF] [Request Permissions]  

C.C. Lau, S.C. Mok, A. Kelley, and D. Cramer

Detection of a Rsal polymorphism within the human galactokinase gene (GK2) by PCR — SSCP
Hum. Mol. Genet. 1994 3: 1916; doi:10.1093/hmg/3.10.1916 [PDF] [Request Permissions]  

C. Legras, M. Alizadeh, R. Fauchet, B. Genetet, and G. Semana

Polymorphism of the HLA-90 new class I gene
Hum. Mol. Genet. 1994 3: 1916; doi:10.1093/hmg/3.10.1916-a [PDF] [Request Permissions]  

Author index:

Author index
Hum. Mol. Genet. 1994 3: 1917; doi:10.1093/hmg/3.10.1917 [PDF] [Request Permissions]  

Corrigendum:

A. Stella, M. Montera, N. Resta, C. Marchese, F. Susca, M. Gentile, L. Romio, S. Pilia, F. Prete, C. Mareni, and G. Guanti

Four novel mutations of the APC (adenomatous polyposis coli) gene in FAP patients
Hum. Mol. Genet. 1994 3: 1918; doi:10.1093/hmg/3.10.1918 [Abstract] [PDF] [Request Permissions]  

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