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86 results found

no	title	author	magazine	year	volume	issue	page(s)	type
1	A 19 bp deletion polymorphism adjacent to a dinucleotide repeat polymorphism at the human dopamine β-hydroxylase locus	Nahmias, Joseph		1992		4	p. 286-286	article
2	ADDITIONAL INFORMATION			1994		4	p. 684-684	article
3	A further tetranucleotide repeat polymorphism in the vWF gene	Kimpton, C.		1992		4	p. 287-287	article
4	Alternative splicing of the NF2 gene and its mutation analysis of breast and colorectal cancers	Arakawa, Hirofuml		1994		4	p. 565-568	article
5	A microsatellite, D8S602, adjacent to the MSR gene	Schmidt, L.		1994		4	p. 679-679	article
6	A missense point mutation (Leu13Arg) of the Norrie disease gene in a large Cuban kindred with Norrie disease	Fuchs, S.		1994		4	p. 655-656	article
7	Analysis of the genomic sequence for the autosomal dominant polycystic kidney disease (PKD1) gene predicts the presence of a leucine-rich repeat	Burn, Timothy C.		1995		4	p. 575-582	article
8	An EcoRI polymorphism for the glutaminyl-tRNA synthetase (QARS) gene on chromosome 1q	Sander, A.K.		1992		4	p. 288-288	article
9	An intragenic Taql RFLP at the PAX5 locus	Vořechovský, I.		1994		4	p. 681-681	article
10	A novel gene encoding a B-box protein within the BRCA1 region at 17q21.1	Campbell, Ian G.		1994		4	p. 589-594	article
11	A novel missense mutation in the type II 3β-hydroxysteroid dehydrogenase gene in a family with classical salt-wasting congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase deficiency	Katsumata, Noriyuki		1995		4	p. 745-746	article
12	A PCR method for detecting polymorphism in the TGFA gene	Basart, A.M.		1994		4	p. 678-678	article
13	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	Ramesh, Narayanaswamy		1995		4	p. 759-761	article
14	A polymorphic dinucleotide repeat at the D10S141 locus	Love, D.R.		1993		4	p. 491-491	article
15	A polymorphic dinucleotide repeat at the ZNF22 locus	Love, D.R.		1993		4	p. 491-491	article
16	A polymorphic X-linked tetranucleotide repeat locus displaying a high rate of new mutation: implications for mechanisms of mutation at short tandem repeat loci	Mahtani, Melanie M.		1993		4	p. 431-437	article
17	A Pvull-polymorphism within the AXL gene on chromosome 19q13.1	Linz, Ute		1993		4	p. 492-492	article
18	A silent A to G mutation in exon 11 of the medium-chain acyl-CoA dehydrogenase (MCAD) gene	Andresen, Brage S.		1993		4	p. 488-488	article
19	A submicroscopic deletion in a patient with isolated X-linked ocular albinism (OA1)	Bassi, Maria T.		1994		4	p. 647-648	article
20	Author index			1993		4	p. 495-495	article
21	Author index			1995		4	p. 781-782	article
22	CA repeat polymorphism at the TCF8 locus	Wardlaw, J.C.		1994		4	p. 680-680	article
23	CFTR haplotype backgrounds on normal and mutant CFTR genes	Cuppens, Harry		1994		4	p. 607-614	article
24	Characterisation of a novel splice donor mutation affecting position +1 in intron 18 of the NF-1 gene	Purandare, Smita M.		1995		4	p. 767-768	article
25	Characterization of the human homologue of the mouse Tg737 candidate polycystic kidney disease gene	Schrick, Jeffrey J.		1995		4	p. 559-567	article
26	Cloning of a balanced translocation breakpoint in the DiGeorge syndrome critical region and isolation of a novel potential adhesion receptor gene in its vicinity	Demczuk, S.		1995		4	p. 551-558	article
27	Cloning of MITF, the human homolog of the mouse microphthalmia gene and assignment to chromosome 3p14. 1-p12.3	Tachibana, Masayoshl		1994		4	p. 553-557	article
28	Complex disease genetics gets more complex			1995		4	p. 499-500	article
29	CORRIGENDA			1994		4	p. 684-685	article
30	Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy	Rodrigues, N.R.		1995		4	p. 631-634	article
31	Detailed mapping of germline deletions of the von Hippel—Lindau disease tumour suppressor gene	Richards, Frances M.		1994		4	p. 595-598	article
32	Detection of 8 new mutations in the α-galactosidase A gene in Fabry disease	Davies, Joanna		1994		4	p. 667-669	article
33	Dinucleotide repeat polymorphism at the D14S99E locus	Polymeropoulos, Mihael H.		1993		4	p. 490-490	article
34	Dinucleotide repeat polymorphism at the D5S356 locus	Polymeropoulos, Mihael		1992		4	p. 290-290	article
35	Dinucleotide repeat polymorphism at the D11S480 locus	Moffatt, M.F.		1993		4	p. 492-492	article
36	Dinucleotide repeat polymorphism at the D21S236 locus	Sharma, V.		1992		4	p. 289-289	article
37	Dinucleotide repeat polymorphism at the D3S1229 locus	Xiao, Hong		1992		4	p. 290-290	article
38	Dinucleotide repeat polymorphism at the D18S37 locus	Sharma, V.		1992		4	p. 289-289	article
39	Dinucleotide repeat polymorphism at the DXS1683 locus	Econs, M.J.		1994		4	p. 680-680	article
40	Dinucleotide repeat polymorphism at the human erythroid alpha-spectrin (SPTA1) mRNA gene detected using PCR	Bodfish, Paul		1992		4	p. 287-287	article
41	Dinucleotide repeat polymorphism in the IL2 and IL5RA genes	Epplen, C.		1994		4	p. 679-679	article
42	Dinucleotide repeat polymorphisms at the D2S108 and D2S109 loci	Todd, S.		1993		4	p. 490-490	article
43	Dinucleotide repeat polymorphisms at the P1, HBE1 and MYH7 loci	Rogaev, E.I.		1992		4	p. 285-285	article
44	D20S213, a microsatellite polymorphism near the D20S16 locus	Howard, T.D.		1994		4	p. 677-677	article
45	D10S681, a microsatellite polymorphism near the RET locus	Schuster, M.K.		1994		4	p. 677-677	article
46	ERRATA			1994		4	p. 686-687	article
47	Evidence for a microdeletion in 1q32–41 involving the gene responsible for Van der Woude syndrome	Sander, A.		1994		4	p. 575-578	article
48	Evidence for two tumour suppressor loci on chromosomal bands 1p35–36 involved in neuroblastoma: one probably imprinted, another associated with N-myc amplification	Caron, Huib		1995		4	p. 535-539	article
49	Expression patterns of two human genes coding for different rab GDP-dissociation inhibitors (GDIs), extremely conserved proteins involved in cellular transport	Bächner, Dietmar		1995		4	p. 701-708	article
50	Genetic and physical mapping of the Treacher Collins syndrome locus: refinement of the localization to chromosome 5q32-33.2	Dixon, Michael J.		1992		4	p. 249-253	article
51	High resolution ordering of YAC contigs using extended chromatin and chromosomes	Haaf, Thomas		1994		4	p. 629-633	article
52	Homozygosity for a novel missense mutation (1175V) in exon 5 of the CFTR gene in a family of Armenian descent	Romey, Marie-Catherine		1994		4	p. 661-662	article
53	Hyperhomocysteinemia in premature arterial disease: examination of cystathionine β-synthase alleles at the molecular level	Kozich, Viktor		1995		4	p. 623-629	article
54	Identification of a new frameshift mutation and a duplication polymorphism in the CFTR gene in the Algerian population	Cuppens, Harry		1992		4	p. 283-284	article
55	Identification of a novel S0D1 mutation in an apparently sporadic amyotrophic lateral sclerosis patient and the detection of lle113Thr in three others	Jones, Cheryl T.		1994		4	p. 649-650	article
56	Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/Velo-cardio-facial chromosomal region in 22q11.2	Budarf, Marcia L.		1995		4	p. 763-766	article
57	Identification of a 5' splice site mutation in intron 4 of the L1CAM gene in an X-linked hydrocephalus family	Coucke, Paul		1994		4	p. 671-673	article
58	Identification of Btk mutations in 20 unrelated patients with X-Iinked agammaglobulinaemia (XLA)	Jin, Hong		1995		4	p. 693-700	article
59	Identification of 12 novel mutations in the CFTR gene	Audrézet, M.P.		1993		4	p. 496-496	article
60	Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis	Pignatti, Pier Franco		1995		4	p. 635-639	article
61	Inversion of the IDS gene resulting from recombination with IDS-related sequences in a common cause of the Hunter syndrome	Bondeson, Maire-Louise		1995		4	p. 615-621	article
62	Isolation and characterization of a candidate gene for progressive myoclonus epilepsy on 21q22.3	Yamakawa, Kazuhiro		1995		4	p. 709-716	article
63	Isolation of human simple repeat loci by hybridization selection	Armour, John A.L.		1994		4	p. 599-605	article
64	Lack of independence between five DNA polymorphisms in the NF1 gene	Messiaen, Ludwine		1993		4	p. 485-485	article
65	Localization of craniosynostosis Adelaide type to 4p16	Hollway, Georgina E.		1995		4	p. 681-683	article
66	Medium chain acyl-CoA dehydrogenase deficiency caused by a deletion of exons 11 and 12	Morris, A.A.M.		1995		4	p. 747-749	article
67	Mucopolysaccharidosis type IVA: identification of six novel mutations among non-Japanese patients	Tomatsu, Shunji		1995		4	p. 741-743	article
68	Mutations of the ACTH receptor gene are only one cause of familial glucocorticoid deficiency	Weber, Angela		1994		4	p. 585-588	article
69	Myotonic dystrophy: evidence for a possible dominant-negative RNA mutation	Wang, Jianzhou		1995		4	p. 599-606	article
70	Polymorphism of the CTLA1 gene on chromosome 14	Nguyen, V.		1992		4	p. 286-286	article
71	Rapid isolation and characterization of 118 novel C2H2-type zinc finger cDNAs expressed in human brain	Becker, Kavin G.		1995		4	p. 685-691	article
72	Recurrent mis-splicing of fibrillin exon 32 in two patients with neonatal Marfan syndrome	Wang, Mei		1995		4	p. 607-613	article
73	RFLP detected by a genomic probe from the human X-Iinked proteolipid protein gene, PLP	Raskind, Wendy H.		1992		4	p. 288-288	article
74	Rhodopsin mutation proline347-to-alanine in a family with autosomal dominant retinitis pigmentosa indicates an important role for proline at position 347	Macke, Jennifer P.		1995		4	p. 775-776	article
75	Sandwiching of a gene within 12 kb of a functional telomere and alpha satellite does not result in silencing	A.L.Bayne, Rosemary		1994		4	p. 539-546	article
76	Somatic mosaicism of CAG repeat in dentatorubral-pallidoluysian atrophy (DRPLA)	Ueno, Shu-ichi		1995		4	p. 663-666	article
77	Splice-mediated insertion of an Alu sequence in the COL4A3 mRNA causing autosomal recessive Alport syndrome	Knebelmann, Bertrand		1995		4	p. 675-679	article
78	Splicing mutations of the polycystic kidney disease 1 (PKD1) gene induced by intronic deletion	Peral, Belén		1995		4	p. 569-574	article
79	Taql polymorphism in intron 2 of the GCDH gene	Haworth, J.C.		1994		4	p. 678-678	article
80	Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients	Akli, S.		1993		4	p. 496-496	article
81	Tetranucleotide repeat polymorphism at the D8S322 locus	Fillmore, K.		1994		4	p. 681-681	article
82	Three genes that escape X chromosome inactivation are clustered within a 6 Mb YAC contig and STS map in Xp11.21-p11.22	Miller, Andrew P.		1995		4	p. 731-739	article
83	Towards high resolution maps of the mouse and human genomes—a facility for ordering markers to 0.1 cM resolution	Breen, Maria		1994		4	p. 621-627	article
84	Two novel mutations in the CFTR gene: W1089X in exon 17B and 4010delTATT in exon 21	Shoshanl, Tzipora		1994		4	p. 657-658	article
85	Ultra-sensitive FISH using peroxidase-mediated deposition of biotin- or fluorochrome tyramides	Raap, A.K.		1995		4	p. 529-534	article
86	Unusual pattern of mitochondrial DNA deletions in skeletal muscle of an adult human with chronic fatigue syndrome	Zhang, Chunfang		1995		4	p. 751-754	article

86 results found

Koninklijke Bibliotheek - National Library of the Netherlands