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

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Contents: Volume 4, Number 4   April 1995   [Index by Author]

       EDITORIALS

       ARTICLES

       REPORTS

       MUTATION REPORTS

       Author index

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EDITORIALS:

: Complex disease genetics gets more complex
Hum. Mol. Genet. 1995 4: 499-500; doi:10.1093/hmg/4.4.499 [PDF] [Request Permissions]

ARTICLES:

Anneke M. Lucassen, Gavin R. Screaton, Cecile Julier, Tim J. Elliott, Mark Lathrop, and John I. Bell: Regulation of insulin gene expression by the IDDM associated, insulin locus haplotype
Hum. Mol. Genet. 1995 4: 501-506; doi:10.1093/hmg/4.4.501 [Abstract] [PDF] [Request Permissions]

Janet L. Sobell, Tammy J. Lind, D. Christine Sigurdson, David H. Zald, Beth E. Snitz, William M. Grove, Leonard L. Heston, and Steve S. Sommer: The D5 dopamine receptor gene in schizophrenia: identification of a nonsense change and multiple missense changes but lack of association with disease
Hum. Mol. Genet. 1995 4: 507-514; doi:10.1093/hmg/4.4.507 [Abstract] [PDF] [Request Permissions]

Dana L. Shkolny, Terry R. Brown, Hope H. Punnett, Morris Kaufman, Mark A. Trifiro, and Leonard Pinsky: Characterization of alternative amino acid substitutions at arginine 830 of the androgen receptor that cause complete androgen insensitivity in three families
Hum. Mol. Genet. 1995 4: 515-521; doi:10.1093/hmg/4.4.515 [Abstract] [PDF] [Request Permissions]

Parsa Kazemi-Esfarjani, Mark A. Trifiro, and Leonard Pinsky: Evidence for a repressive function of the long polyglutamine tract in the human androgen receptor: possible pathogenetic relevance for the (CAG)_n-expanded neuronopathies
Hum. Mol. Genet. 1995 4: 523-527; doi:10.1093/hmg/4.4.523 [Abstract] [PDF] [Request Permissions]

A.K. Raap, M.P.C. van de Corput, R.A.M. Vervenne, R.P.M. van Gijlswijk, H.J. Tanke, and J. Wiegant: Ultra-sensitive FISH using peroxidase-mediated deposition of biotin- or fluorochrome tyramides
Hum. Mol. Genet. 1995 4: 529-534; doi:10.1093/hmg/4.4.529 [Abstract] [PDF] [Request Permissions]

Huib Caron, Martine Peter, Peter van Sluis, Frank Speleman, Jan de Kraker, Geneviève Laureys, Jean Michon, Laurence Brugières, P.A. Voûte, Andries Westerveld, Rosalyn Slater, Olivier Delattre, and Rogier Versteeg: Evidence for two tumour suppressor loci on chromosomal bands 1p35–36 involved in neuroblastoma: one probably imprinted, another associated with N-myc amplification
Hum. Mol. Genet. 1995 4: 535-539; doi:10.1093/hmg/4.4.535 [Abstract] [PDF] [Request Permissions]

Hiroki Kurahashi, Kenzo Akagi, Johji Inazawa, Tohru Ohta, Norio Niikawa, Futoshi Kayatani, Tetsuya Sano, Shintaro Okada, and Isamu Nishisho: Isolation and characterization of a novel gene deleted in DiGeorge syndrome
Hum. Mol. Genet. 1995 4: 541-549; doi:10.1093/hmg/4.4.541 [Abstract] [PDF] [Request Permissions]

S. Demczuk, R. Aledo, J. Zucman, O. Delattre, C. Desmaze, L. Dauphinot, P. Jalbert, G.A. Rouleau, G. Thomas, and A. Aurias: Cloning of a balanced translocation breakpoint in the DiGeorge syndrome critical region and isolation of a novel potential adhesion receptor gene in its vicinity
Hum. Mol. Genet. 1995 4: 551-558; doi:10.1093/hmg/4.4.551 [Abstract] [PDF] [Request Permissions]

Jeffrey J. Schrick, L.F. Onuchic, S.T. Reeders, J. Korenberg, X-N. Chen, J.H. Moyer, J.E. Wilkinson, and Richard Woychik: Characterization of the human homologue of the mouse Tg737 candidate polycystic kidney disease gene
Hum. Mol. Genet. 1995 4: 559-567; doi:10.1093/hmg/4.4.559 [Abstract] [PDF] [Request Permissions]

Belén Peral, Vicki Gamble, José L. Millán, Carol Strong, Jackie Sloane-Stanley, Felipe Moreno, and Peter C. Harris: Splicing mutations of the polycystic kidney disease 1 (PKD1) gene induced by intronic deletion
Hum. Mol. Genet. 1995 4: 569-574; doi:10.1093/hmg/4.4.569 [Abstract] [PDF] [Request Permissions]

Timothy C. Burn, Timothy D. Connors, William R. Dackowski, Linda R. Petry, Terence J. van Raay, John M. Millholland, Marc Venet, Glenn Miller, Ramond M. Hakim, Gregory M. Landes, Katherine W. Kilnger, Feng Qian, Luiz F. Onuchic, Terry Watnick, Gregory G. Germino, and Norman A. Doggett: Analysis of the genomic sequence for the autosomal dominant polycystic kidney disease (PKD1) gene predicts the presence of a leucine-rich repeat: The AMERICAN PKD1 Consortium (APKD1 Consortium)
Hum. Mol. Genet. 1995 4: 575-582; doi:10.1093/hmg/4.4.575 [Abstract] [PDF] [Request Permissions]

Dieter Kotzot, Silke Schmitt, Fabiana Bernasconi, Wendy P. Robinson, Iosif W. Lurie, Helena Ilyina, Károly Méhes, Ben C.J. Hamel, Barto J. Otten, Martin Hergersberg, Edmond Werder, Eugen Schoenle, and Albert Schinzel: Uniparental disomy 7 in Silver—Russell syndrome and primordial growth retardation
Hum. Mol. Genet. 1995 4: 583-587; doi:10.1093/hmg/4.4.583 [Abstract] [PDF] [Request Permissions]

Zhaoyang Zhao, Chang-Chi Lee, Sarn Jiralerspong, Ramesh C. Juyal, Fei Lu, Antonio Baldini, Frank Greenberg, C. Thomas Caskey, and Pragna I. Patel: The gene for a human microfibril-associated glycoprotein is commonly deleted in Smith-Magenis syndrome patients
Hum. Mol. Genet. 1995 4: 589-597; doi:10.1093/hmg/4.4.589 [Abstract] [PDF] [Request Permissions]

Jianzhou Wang, Elena Pegoraro, Elisabetta Menegazzo, Massimo Gennarelli, Rita C. Hoop, Corrado Angelini, and Eric P. Hoffman: Myotonic dystrophy: evidence for a possible dominant-negative RNA mutation
Hum. Mol. Genet. 1995 4: 599-606; doi:10.1093/hmg/4.4.599 [Abstract] [PDF] [Request Permissions]

Mei Wang, Christopher E. Price, Jenny Han, Jason Cisler, Kiyoshi Imaizumi, Marie Neëlle Van Thienen, Anne Depaepe, and Maurice Godfrey: Recurrent mis-splicing of fibrillin exon 32 in two patients with neonatal Marfan syndrome
Hum. Mol. Genet. 1995 4: 607-613; doi:10.1093/hmg/4.4.607 [Abstract] [PDF] [Request Permissions]

Maire-Louise Bondeson, Niklas Dahl, Helena Malmgren, Wim J. Kleijer, Tönne Tönnesen, Britt-Marie Carlberg, and Ulf Pettersson: Inversion of the IDS gene resulting from recombination with IDS-related sequences in a common cause of the Hunter syndrome
Hum. Mol. Genet. 1995 4: 615-621; doi:10.1093/hmg/4.4.615 [Abstract] [PDF] [Request Permissions]

Viktor Kozich, Eva Kraus, Raffaella de Franchis, Brian Fowler, Godfried H.J. Boers, Ian Graham, and Jan P. Kraus: Hyperhomocysteinemia in premature arterial disease: examination of cystathionine ß-synthase alleles at the molecular level
Hum. Mol. Genet. 1995 4: 623-629; doi:10.1093/hmg/4.4.623 [Abstract] [PDF] [Request Permissions]

N.R. Rodrigues, N. Owen, K. Talbot, J. Ignatius, V. Dubowitz, and K.E. Davies: Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy
Hum. Mol. Genet. 1995 4: 631-634; doi:10.1093/hmg/4.4.631 [Abstract] [PDF] [Request Permissions]

REPORTS:

Pier Franco Pignatti, Cristina Bombieri, Cristina Marigo, Mariagiovanna Benetazzo, and Maurizio Luisetti: Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis
Hum. Mol. Genet. 1995 4: 635-639; doi:10.1093/hmg/4.4.635 [Abstract] [PDF] [Request Permissions]

Aileen Nicoletti, Deborah J. Wong, Kazuhide Kawase, Lisa H. Gibson, Teresa L. Yang-Feng, Julia E. Richards, and Debra A. Thompson: Molecular characterization of the human gene encoding an abundant 61 kDa protein specific to the retinal pigment epithelium
Hum. Mol. Genet. 1995 4: 641-649; doi:10.1093/hmg/4.4.641 [Abstract] [PDF] [Request Permissions]

Shinji Yamada, Shunji Tomatsu, William S. Sly, Rafigul Islam, David A. Wenger, Seiji Fukuda, Kazuko Sukegawa, and Tadao Orii: Four novel mutations in Mucopolysaccharidosis type VII including a unique base substitution in exon 10 of the ß-glucuronidase gene that creates a novel 5'-splice site
Hum. Mol. Genet. 1995 4: 651-655; doi:10.1093/hmg/4.4.651 [Abstract] [PDF] [Request Permissions]

Yangxi Wang, Clare B. Harvay, Wandy S. Pratt, Virginia Sams, Martin Sarner, Mauro Rossi, Salvatore Auricchio, and Dallas M. Swallow: The lactase persistence/non-persistence polymorphism is controlled by a cis-acting element
Hum. Mol. Genet. 1995 4: 657-662; doi:10.1093/hmg/4.4.657 [Abstract] [PDF] [Request Permissions]

Shu-ichi Ueno, Keiji Kondoh, Yasunori Komure, Osamu Komure, Sadako Kuno, Jun Kawai, Fumitada Hazama, and Akira Sano: Somatic mosaicism of CAG repeat in dentatorubral-pallidoluysian atrophy (DRPLA)
Hum. Mol. Genet. 1995 4: 663-666; doi:10.1093/hmg/4.4.663 [Abstract] [PDF] [Request Permissions]

Takashi Kohno, Toshiyuki Otsuka, Hirokuni Takano, Tadashi Yamamoto, Masaaki Hamaguchi, Masaaki Terada, and Jun Yokota: Identification of a novel phospholipase C family gene at chromosome 2q33 that is homozygously deleted in human small cell lung carcinoma
Hum. Mol. Genet. 1995 4: 667-674; doi:10.1093/hmg/4.4.667 [Abstract] [PDF] [Request Permissions]

Bertrand Knebelmann, Lionel Forestier, Laurent Drouot, Susan Quinones, Christian Chuet, France Benessy, Juan Saus, and Corinne Antignac: Splice-mediated insertion of an Alu sequence in the COL4A3 mRNA causing autosomal recessive Alport syndrome
Hum. Mol. Genet. 1995 4: 675-679; doi:10.1093/hmg/4.4.675 [Abstract] [PDF] [Request Permissions]

Georgina E. Hollway, Hilary A. Phillips, Lesley C. Adès, Eric A. Haan, and John C. Mulley: Localization of craniosynostosis Adelaide type to 4p16
Hum. Mol. Genet. 1995 4: 681-683; doi:10.1093/hmg/4.4.681 [Abstract] [PDF] [Request Permissions]

Kavin G. Becker, James W. Nagle, Rachel D. Canning, William E. Biddison, Keiko Ozato, and Paul D. Drew: Rapid isolation and characterization of 118 novel C2H2-type zinc finger cDNAs expressed in human brain
Hum. Mol. Genet. 1995 4: 685-691; doi:10.1093/hmg/4.4.685 [Abstract] [PDF] [Request Permissions]

Hong Jin, A.D.B. Webster, Mauno Vihinen, Paschalis Sideras, lgor Vorechovsky, Lennart Hammarstróm, Ewa Bernatowska-Matuszkiewicz, C.I.E. Smith, Martin Bobrow, and David Vetrie: Identification of Btk mutations in 20 unrelated patients with X-Iinked agammaglobulinaemia (XLA)
Hum. Mol. Genet. 1995 4: 693-700; doi:10.1093/hmg/4.4.693 [Abstract] [PDF] [Request Permissions]

Dietmar Bächner, Zdenek Sedlacek, Bernhard Korn, Horst Hameister, and Annemarie Poustka: Expression patterns of two human genes coding for different rab GDP-dissociation inhibitors (GDIs), extremely conserved proteins involved in cellular transport
Hum. Mol. Genet. 1995 4: 701-708; doi:10.1093/hmg/4.4.701 [Abstract] [PDF] [Request Permissions]

Kazuhiro Yamakawa, Steve Mitchell, René Hubert, Xiao-Ning Chen, Steve Colbern, Yong-Kang Huo, Christopher Gadomski, Ung-Jin Kim, and Julie R. Korenberg: Isolation and characterization of a candidate gene for progressive myoclonus epilepsy on 21q22.3
Hum. Mol. Genet. 1995 4: 709-716; doi:10.1093/hmg/4.4.709 [Abstract] [PDF] [Request Permissions]

Nuchanard Chiannilkulchal, Patricia Pasturaud, Isabelle Richard, Charles Auffray, and Jacques S. Beckmann: A primary expression map of the chromosome 15q15 region containing the recessive form of limb-girdle muscular dystrophy (LGMD2A) gene
Hum. Mol. Genet. 1995 4: 717-725; doi:10.1093/hmg/4.4.717 [Abstract] [PDF] [Request Permissions]

Yie Liu, Omid Rasool, Dan Grandér, Annika Lindblom, and Stefan Einhorn: Sequence variability of a prolonged tetranucleotide repeat
Hum. Mol. Genet. 1995 4: 727-729; doi:10.1093/hmg/4.4.727 [Abstract] [PDF] [Request Permissions]

Andrew P. Miller, Karen Gustashaw, Daynna J. Wolff, Sue H. Rider, Anthony P. Monaco, Brian Eble, David Schlessinger, Jerome L. Gorski, Gert-Jan van Ommen, Jean Weissenbach, and Huntington F. Willard: Three genes that escape X chromosome inactivation are clustered within a 6 Mb YAC contig and STS map in Xp11.21-p11.22
Hum. Mol. Genet. 1995 4: 731-739; doi:10.1093/hmg/4.4.731 [Abstract] [PDF] [Request Permissions]

MUTATION REPORTS:

Shunji Tomatsu, Seiji Fukuda, Alan Cooper, James E. Wraith, Golam Md. Maruf Rezvi, Atsushi Yamagishi, Naoto Yamada, Zenichiro Kato, Koji Isogai, Kazuko Sukegawa, Naomi Kondo, Yasuyuki Suzuki, Nobuyuki Shimozawa, and Tadao Orii: Mucopolysaccharidosis type IVA: identification of six novel mutations among non-Japanese patients
Hum. Mol. Genet. 1995 4: 741-743; doi:10.1093/hmg/4.4.741 [PDF] [Request Permissions]

Noriyuki Katsumata, Ayako Tanae, Toru Yasunaga, Reiko Horikawa, Toshiaki Tanaka, and Itsuro Hibi: A novel missense mutation in the type II 3ß-hydroxysteroid dehydrogenase gene in a family with classical salt-wasting congenital adrenal hyperplasia due to 3ß-hydroxysteroid dehydrogenase deficiency
Hum. Mol. Genet. 1995 4: 745-746; doi:10.1093/hmg/4.4.745 [PDF] [Request Permissions]

A.A.M. Morris, R.W. Taylor, R.N. Lightowlers, A. Aynsley-Green, K. Bartlett, and D.M. Turnbull: Medium chain acyl-CoA dehydrogenase deficiency caused by a deletion of exons 11 and 12
Hum. Mol. Genet. 1995 4: 747-749; doi:10.1093/hmg/4.4.747 [PDF] [Request Permissions]

Chunfang Zhang, Alessandra Baumer, Ian R. Mackay, Anthony W. Linnane, and Phillip Nagley: Unusual pattern of mitochondrial DNA deletions in skeletal muscle of an adult human with chronic fatigue syndrome
Hum. Mol. Genet. 1995 4: 751-754; doi:10.1093/hmg/4.4.751 [PDF] [Request Permissions]

Hubert B. Gaspar, Linda A.D. Bradley, Fay Katz, Ruth C. Lovering, Chaim M. Roifman, Gareth Morgan, Roland J. Levinsky, and Christine Kinnon: Mutation analysis in Bruton's tyrosine kinase, the X-linked agammaglobulinaemia gene, including identification of an insertional hotspot
Hum. Mol. Genet. 1995 4: 755-757; doi:10.1093/hmg/4.4.755 [PDF] [Request Permissions]

Narayanaswamy Ramesh, Ramsay Fuleihan, Paul Swinton, Fred S. Rosen, and Raif Geha: A point mutation in exon 2 of the CD4O ligand gene causes the simultaneous expression of two defective mRNA species in X-linked hyperimmunoglobulinemia M
Hum. Mol. Genet. 1995 4: 759-761; doi:10.1093/hmg/4.4.759 [PDF] [Request Permissions]

Marcia L. Budarf, Barbara A. Konkle, Laural B. Ludlow, Dominique Michaud, Mengrong Li, Darrell J. Yamashiro, Donna McDonald-McGinn, Elaine H. Zackai, and Deborah A. Driscoll: Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/Velo-cardio-facial chromosomal region in 22q11.2
Hum. Mol. Genet. 1995 4: 763-766; doi:10.1093/hmg/4.4.763 [PDF] [Request Permissions]

Smita M. Purandare, W.George Lanyon, Reynir Arngrimsson, and J. Michael Connor: Characterisation of a novel splice donor mutation affecting position +1 in intron 18 of the NF-1 gene
Hum. Mol. Genet. 1995 4: 767-768; doi:10.1093/hmg/4.4.767 [PDF] [Request Permissions]

Rhett P. Ketterling, Jing-zhong Liu, Dongzhou Liao, Carol K. Kasper, Raul Ambriz, Rogello Paredes, and Steve S. Sommer: Two novel factor IX promoter mutations: incremental progress towards ‘saturation in vivo mutagenesis’ of a human promoter region
Hum. Mol. Genet. 1995 4: 769-770; doi:10.1093/hmg/4.4.769 [PDF] [Request Permissions]

Izumi Horikawa, Mikio Suzuki, Mitsuaki A. Yoshida, and Mitsuo Oshimura: Frame-shift mutation and reduced transcript of p53 gene in a renal cell carcinoma cell line, RCC23
Hum. Mol. Genet. 1995 4: 771-773; doi:10.1093/hmg/4.4.771 [PDF] [Request Permissions]

Jennifer P. Macke, Jill C. Hennessey, and Jeremy Nathans: Rhodopsin mutation proline³⁴⁷-to-alanine in a family with autosomal dominant retinitis pigmentosa indicates an important role for proline at position 347
Hum. Mol. Genet. 1995 4: 775-776; doi:10.1093/hmg/4.4.775 [PDF] [Request Permissions]

Zhi-Xin Zhang, Nobuaki Wakamatsu, Beverly R. Akerman, Emily H. Mules, George H. Thomas, and Roy A. Gravel: A second, large deletion in the HEXB gene in a patient with infantile Sandhoff disease
Hum. Mol. Genet. 1995 4: 777-780; doi:10.1093/hmg/4.4.777 [PDF] [Request Permissions]

Author index:

: Author index
Hum. Mol. Genet. 1995 4: 781-782; doi:10.1093/hmg/4.4.781 [PDF] [Request Permissions]

Human Molecular Genetics

EDITORIALS:

ARTICLES:

REPORTS:

MUTATION REPORTS:

Author index: