HUMAN MOLECULAR GENETICS
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Table of contents
- 499
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Complex disease genetics gets more complex| 1995
- 501
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Regulation of insulin gene expression by the IDDM associated, insulin locus haplotypeLucassen, Anneke M. / Screaton, Gavin R. / Julier, Cecile et al. | 1995
- 507
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The D5 dopamine receptor gene in schizophrenia: identification of a nonsense change and multiple missense changes but lack of association with diseaseSobell, Janet L. / Lind, Tammy J. / Sigurdson, D. Christine et al. | 1995
- 515
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Characterization of alternative amino acid substitutions at arginine 830 of the androgen receptor that cause complete androgen insensitivity in three familiesShkolny, Dana L. / Brown, Terry R. / Punnett, Hope H. et al. | 1995
- 523
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Evidence for a repressive function of the long polyglutamine tract in the human androgen receptor: possible pathogenetic relevance for the (CAG)n-expanded neuronopathiesKazemi-Esfarjani, Parsa / Trifiro, Mark A. / Pinsky, Leonard et al. | 1995
- 529
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Ultra-sensitive FISH using peroxidase-mediated deposition of biotin- or fluorochrome tyramidesRaap, A.K. / van de Corput, M.P.C. / Vervenne, R.A.M. et al. | 1995
- 535
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Evidence for two tumour suppressor loci on chromosomal bands 1p35-36 involved in neuroblastoma: one probably imprinted, another associated with N-myc amplificationCaron, Huib / Peter, Martine / van Sluis, Peter et al. | 1995
- 541
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Isolation and characterization of a novel gene deleted in DiGeorge syndromeKurahashi, Hiroki / Akagi, Kenzo / Inazawa, Johji et al. | 1995
- 551
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Cloning of a balanced translocation breakpoint in the DiGeorge syndrome critical region and isolation of a novel potential adhesion receptor gene in its vicinityDemczuk, S. / Aledo, R. / Zucman, J. et al. | 1995
- 559
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Characterization of the human homologue of the mouse Tg737 candidate polycystic kidney disease geneSchrick, Jeffrey J. / Onuchic, L.F. / Reeders, S.T. et al. | 1995
- 569
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Splicing mutations of the polycystic kidney disease 1 (PKD1) gene induced by intronic deletionPeral, Belén / Gamble, Vicki / Millán, José L. et al. | 1995
- 575
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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)Burn, Timothy C. / Connors, Timothy D. / Dackowski, William R. et al. | 1995
- 583
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Uniparental disomy 7 in Silver--Russell syndrome and primordial growth retardationKotzot, Dieter / Schmitt, Silke / Bernasconi, Fabiana et al. | 1995
- 589
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The gene for a human microfibril-associated glycoprotein is commonly deleted in Smith-Magenis syndrome patientsZhao, Zhaoyang / Lee, Chang-Chi / Jiralerspong, Sarn et al. | 1995
- 599
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Myotonic dystrophy: evidence for a possible dominant-negative RNA mutationWang, Jianzhou / Pegoraro, Elena / Menegazzo, Elisabetta et al. | 1995
- 607
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Recurrent mis-splicing of fibrillin exon 32 in two patients with neonatal Marfan syndromeWang, Mei / Price, Christopher E. / Han, Jenny et al. | 1995
- 615
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Inversion of the IDS gene resulting from recombination with IDS-related sequences in a common cause of the Hunter syndromeBondeson, Maire-Louise / Dahl, Niklas / Malmgren, Helena et al. | 1995
- 623
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Hyperhomocysteinemia in premature arterial disease: examination of cystathionine {beta}-synthase alleles at the molecular levelKozich, Viktor / Kraus, Eva / de Franchis, Raffaella et al. | 1995
- 631
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Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophyRodrigues, N.R. / Owen, N. / Talbot, K. et al. | 1995
- 635
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Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasisPignatti, Pier Franco / Bombieri, Cristina / Marigo, Cristina et al. | 1995
- 641
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Molecular characterization of the human gene encoding an abundant 61 kDa protein specific to the retinal pigment epitheliumNicoletti, Aileen / Wong, Deborah J. / Kawase, Kazuhide et al. | 1995
- 651
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Four novel mutations in Mucopolysaccharidosis type VII including a unique base substitution in exon 10 of the {beta}-glucuronidase gene that creates a novel 5'-splice siteYamada, Shinji / Tomatsu, Shunji / Sly, William S. et al. | 1995
- 657
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The lactase persistence/non-persistence polymorphism is controlled by a cis-acting elementWang, Yangxi / Harvay, Clare B. / Pratt, Wandy S. et al. | 1995
- 663
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Somatic mosaicism of CAG repeat in dentatorubral-pallidoluysian atrophy (DRPLA)Ueno, Shu-ichi / Kondoh, Keiji / Komure, Yasunori et al. | 1995
- 667
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Identification of a novel phospholipase C family gene at chromosome 2q33 that is homozygously deleted in human small cell lung carcinomaKohno, Takashi / Otsuka, Toshiyuki / Takano, Hirokuni et al. | 1995
- 675
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Splice-mediated insertion of an Alu sequence in the COL4A3 mRNA causing autosomal recessive Alport syndromeKnebelmann, Bertrand / Forestier, Lionel / Drouot, Laurent et al. | 1995
- 681
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Localization of craniosynostosis Adelaide type to 4p16Hollway, Georgina E. / Phillips, Hilary A. / Adès, Lesley C. et al. | 1995
- 685
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Rapid isolation and characterization of 118 novel C2H2-type zinc finger cDNAs expressed in human brainBecker, Kavin G. / Nagle, James W. / Canning, Rachel D. et al. | 1995
- 693
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Identification of Btk mutations in 20 unrelated patients with X-Iinked agammaglobulinaemia (XLA)Jin, Hong / Webster, A.D.B. / Vihinen, Mauno et al. | 1995
- 701
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Expression patterns of two human genes coding for different rab GDP-dissociation inhibitors (GDIs), extremely conserved proteins involved in cellular transportBächner, Dietmar / Sedlacek, Zdenek / Korn, Bernhard et al. | 1995
- 709
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Isolation and characterization of a candidate gene for progressive myoclonus epilepsy on 21q22.3Yamakawa, Kazuhiro / Mitchell, Steve / Hubert, René et al. | 1995
- 717
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A primary expression map of the chromosome 15q15 region containing the recessive form of limb-girdle muscular dystrophy (LGMD2A) geneChiannilkulchal, Nuchanard / Pasturaud, Patricia / Richard, Isabelle et al. | 1995
- 727
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Sequence variability of a prolonged tetranucleotide repeatLiu, Yie / Rasool, Omid / Grandér, Dan et al. | 1995
- 731
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Three genes that escape X chromosome inactivation are clustered within a 6 Mb YAC contig and STS map in Xp11.21-p11.22Miller, Andrew P. / Gustashaw, Karen / Wolff, Daynna J. et al. | 1995
- 741
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Mucopolysaccharidosis type IVA: identification of six novel mutations among non-Japanese patientsTomatsu, Shunji / Fukuda, Seiji / Cooper, Alan et al. | 1995
- 745
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A novel missense mutation in the type II 3{beta}-hydroxysteroid dehydrogenase gene in a family with classical salt-wasting congenital adrenal hyperplasia due to 3{beta}-hydroxysteroid dehydrogenase deficiencyKatsumata, Noriyuki / Tanae, Ayako / Yasunaga, Toru et al. | 1995
- 747
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Medium chain acyl-CoA dehydrogenase deficiency caused by a deletion of exons 11 and 12Morris, A.A.M. / Taylor, R.W. / Lightowlers, R.N. et al. | 1995
- 751
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Unusual pattern of mitochondrial DNA deletions in skeletal muscle of an adult human with chronic fatigue syndromeZhang, Chunfang / Baumer, Alessandra / Mackay, Ian R. et al. | 1995
- 755
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Mutation analysis in Bruton's tyrosine kinase, the X-linked agammaglobulinaemia gene, including identification of an insertional hotspotGaspar, Hubert B. / Bradley, Linda A.D. / Katz, Fay et al. | 1995
- 759
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A point mutation in exon 2 of the CD4O ligand gene causes the simultaneous expression of two defective mRNA species in X-linked hyperimmunoglobulinemia MRamesh, Narayanaswamy / Fuleihan, Ramsay / Swinton, Paul et al. | 1995
- 763
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Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/Velo-cardio-facial chromosomal region in 22q11.2Budarf, Marcia L. / Konkle, Barbara A. / Ludlow, Laural B. et al. | 1995
- 767
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Characterisation of a novel splice donor mutation affecting position +1 in intron 18 of the NF-1 genePurandare, Smita M. / Lanyon, W.George / Arngrimsson, Reynir et al. | 1995
- 769
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Two novel factor IX promoter mutations: incremental progress towards 'saturation in vivo mutagenesis' of a human promoter regionKetterling, Rhett P. / Liu, Jing-zhong / Liao, Dongzhou et al. | 1995
- 771
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Frame-shift mutation and reduced transcript of p53 gene in a renal cell carcinoma cell line, RCC23Horikawa, Izumi / Suzuki, Mikio / Yoshida, Mitsuaki A. et al. | 1995
- 775
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Rhodopsin mutation proline347-to-alanine in a family with autosomal dominant retinitis pigmentosa indicates an important role for proline at position 347Macke, Jennifer P. / Hennessey, Jill C. / Nathans, Jeremy et al. | 1995
- 777
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A second, large deletion in the HEXB gene in a patient with infantile Sandhoff diseaseZhang, Zhi-Xin / Wakamatsu, Nobuaki / Akerman, Beverly R. et al. | 1995
- 781
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Author index| 1995