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virtual library in human genetics and molecular biology

ARTICLES

Targeted disruption of the mouse sphingolipid activator protein gene: a complex phenotype, including severe leukodystrophy and wide-spread storage of multiple sphingolipids
Nobuya Fujita, Kinuko Suzuki, Marie T. Vanier, Brian Popko, Nobuyo Maeda, Andreas Klein, Margarete Henseler, Konrad Sandhoff, Hiroyuki Nakayasu and Kunihiko Suzuki
P. 711

Population screening at the FRAXA and FRAXE loci: molecular analyses of boys with learning difficulties and their mothers
Anna Murray, Sheila Youings, Nick Dennis, Lorinda Latsky, Paul Linehan, Nicky McKechnie, James Macpherson, Michelle Pound and Patricia Jacobs
P. 727

Ser72Pro active-site disease mutation in human lysosomal aspartylglucosaminidase: abnormal intracellular processing and evidence for extracellular activation
Minna Peltola, Ritva Tikkanen, Leena Peltonen and Anu Jalanko
P. 737

Primate origin of the CMT1A-REP repeat and analysis of a putative transposon-associated recombinational hotspot
Hidenori Kiyosawa and Phillip F. Chance
P. 745

REPORTS

Mutational scanning of large genes by extensive PCR multiplexing and two-dimensional electrophoresis: application to the RB1 gene
Nathalie J. Van Orsouw, Daizong Li, Pieter van der Vlies, Hans Scheffer, Charis Eng, Charles H.C.M. Buys, Frederick P. Li and Jan Vijg
P. 755

DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer
Minna Nystrom-Lahti, Ying Wu, Anu-Liisa Moisio, Robert M.W. Hofstra, Jan Osinga, Jukka-Pekka Mecklin, Heikki J. Jarvinen, Jaakko Leisti, Charles H.C.M. Buys, Albert de la Chapelle and Paivi Peltomaki
P.763

Cloning and expression of the gene involved in Sanfilippo B syndrome (mucopolysaccharidosis III B)
Birgit Weber, Lianne Blanch, Peter R. Clements, Hamish S. Scott and John J. Hopwood
P.771

Genetic association between monoamine oxidase A microsatellite and RFLP alleles and bipolar affective disorder: analysis and meta-analysis
D.C. Rubinsztein, J. Leggo, S. Goodburn, C. Walsh, S. Jain and E.S. Paykel
P. 779

Genomic imprinting of human p57KIP2 and its reduced expression in Wilms' tumors
Izuho Hatada, Johji Inazawa, Tatsuo Abe, Masahiro Nakayama, Yasuhiko Kaneko, Yoshihiro Jinno, Norio Niikawa, Hirofumi Ohashi, Yoshimitsu Fukushima, Kazuki Iida, Chikao Yutani, Shun-ichi Takahashi, Yoshihide Chiba, Sachiko Ohishi and Tsunehiro Mukai
P. 783

A transcription map of the DiGeorge and velocardiofacial syndrome minimal critical region on 22q11
Weilong Gong, Beverly S. Emanuel, Joelle Collins, David H. Kim, Zhili Wang, Feng Chen, Guozhong Zhang, Bruce Roe and Marcia L. Budarf
P.789

The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein
S. Manilal, Nguyen thi Man, C.A. Sewry and G. E. Morris
P.801

FMRP is associated to the ribosomes via RNA
Filippo Tamanini, Nicolle Meijer, Coleta Verheij, Patrick J. Willems, Hans Galjaard, Ben A. Oostra and Andre T. Hoogeveen
P. 809

Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD
M.R. Passos-Bueno, E.S. Moreira, M. Vainzof, S.K. Marie and M. Zatz
P.815

Analysis of germline variation at the FMR1 CGG repeat shows variation in the normal-premutated borderline range
Etienne Mornet, Corinne Chateau, Mark C. Hirst, Francois Thepot, Agnes Taillandier, Olivier Cibois and Jean-Louis Serre
P. 821

Identification of a gene disrupted by a microdeletion in a patient with X-linked retinitis pigmentosa (XLRP)
Ronald Roepman, David Bauer, Thomas Rosenberg, Gerard van Duijnhoven, Esther van de Vosse, Matthias Platzer, Andre Rosenthal, Hans-Hilger Ropers, Frans P.M. Cremers and Wolfgang Berger
P. 827

Comparison of BRCA1 polymorphisms, rare sequence variants and/or missense mutations in unaffected and breast/ovarian cancer populations
Francine Durocher, Donna Shattuck-Eidens, Melody McClure, Fernand Labrie, Mark H. Skolnick, David E. Goldgar and Jacques Simard
P. 835

LINKAGE REPORTS

A gene which causes severe ocular alterations and occipital encephalocele (Knobloch Syndrome) is mapped to 21q22.3
A.L. Sertie, M. Quimby, E.S. Moreira, J. Murray, M. Zatz, S.E. Antonarakis and M.R. Passos-Bueno
P. 843

A gene for a dominant form of non-syndromic sensorineural deafness (DFNA11) maps within the region containing the DFNB2 recessive deafness gene
Yuya Tamagawa, Ken Kitamura, Takashi Ishida, Kazuhiro Ishikawa, Hajime Tanaka, Shoji Tsuji and Masatoyo Nishizawa
P.849

A gene for autosomal dominant late-onset progressive non- syndromic hearing loss, DFNA10, maps to chromosome 6
Marsha E. O'Neill, Jacquie Marietta, Darryl Nishimura, Sigrid Wayne, Guy Van Camp, Lut Van Laer, Clelia Negrini, Edward R. Wilcox, Achih Chen, Kunihiro Fukushima, Li Ni, Val C. Sheffield and Richard J.H. Smith
P. 853

Close mapping of the focal non-epidermolytic palmoplantar keratoderma (PPK) locus associated with oesophageal cancer (TOC)
David P. Kelsell, Janet M. Risk, Irene M. Leigh, Howard P. Stevens, Anthony Ellis, Hans C. Hennies, Andre Reis, Jean Weissenbach, D. Timothy Bishop, Nigel K. Spurr and John K. Field
P. 857

Human Molecular Genetics is a monthly journal of original peer-reviewed research, published by Oxford University Press.
In addition to the regular monthly issues, a special review issue, reviewing important developments in the field, is published each year.

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