Human molecular genetics
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Table of contents
- 853
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Human immunoglobulin VH and D segments on chromosomes 15q11.2 and 16p11.2Ian, M.Tomlinson / Cook, Graham P. / Nigel, P.Carter et al. | 1994
- 861
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Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common {alpha}-L-iduronidase mutations (W402X and Q70X) among European patientsBunge, Susanna / Kleijer, Wim J. / Steglich, Cordula et al. | 1994
- 867
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Identification of two novel mutations in the methylmalonyl-CoA mutase gene with decreased levels of mutant mRNA in methylmalonic acidemiaOgasawara, Masahito / Matsubara, Yoichi / Mikami, Hitoshi et al. | 1994
- 873
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A mouse Y chromosome gene encoded by a region essential for spermatogenesis and expression of male-specific minor histocompatibility antigensAgulnik, Alexander I. / Mitchell, Michael J. / Lerner, Jody L. et al. | 1994
- 879
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A novel X gene with a widely transcribed Y-linked homologue escapes X-inactivation in mouse and humanAgulnik, Alexander I. / Mitchell, Michael J. / Mattei, Marie-Geneviève et al. | 1994
- 885
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Mutations of the neurofibromatosis type 2 gene and lack of the gene product in vestibular schwannomasSainz, Jesús / Huynh, Duong P. / Figueroa, Karla et al. | 1994
- 893
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Detection of aberrant DNA methylation in unique Prader -- Willi syndrome patients and its diagnostic implicationsBuiting, Karin / Dittrich, Bärbel / Robinson, Wendy P. et al. | 1994
- 897
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TXK, a novel human tyrosine kinase expressed in T cells shares sequence identity with Tec family kinases and maps to 4p12Haire, Robert N. / Ohta, Yuko / Lewis, Janet E. et al. | 1994
- 903
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Molecular genetic analysis of the 3p -- syndromePhipps, Maude E. / Latif, Farida / Prowse, Amanda et al. | 1994
- 909
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The Friedreich ataxia region: characterization of two novel genes and reduction of the critical region to 300 kbDuclos, F. / Rodius, F. / Wrogemann, K. et al. | 1994
- 915
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A new locus for autosomal dominant retinitis pigmentosa on the short arm of chromosome 17Greenberg, Jacquie / Goliath, Rene / Beighton, Peter et al. | 1994
- 919
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Half the dystrophin gene is apparently enough for a mild clinical course: confirmation of its potential use for gene therapyPassos-Bueno, M.R. / Vainzof, M. / Marie, S.K. et al. | 1994
- 923
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Identification of a new variant CYP2D6 allele with a single base deletion in exon 3 and its association with the poor metabolizer phenotypeSaxena, Richa / Shaw, Gall L. / Relling, Mary V. et al. | 1994
- 927
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No mental retardation in a man with 40% abnormal methylation at the FMR-1 locus and transmission of sperm cell mutations as premutationsRousseau, François / Robb, Laura J. / Rouillard, Patricia et al. | 1994
- 931
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Rapid chromosome identification by oligonucleotide-primed in situ DNA synthesis (PRINS)Gosden, John / Lawson, Diane et al. | 1994
- 937
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Characterization of the translocation breakpoint on chromosome 22q12.2 in a patient with neurofibromatosis type 2 (NF2)Arai, Eiko / Ikeuchi, Tatsuro / Nakamura, Yusuke et al. | 1994
- 941
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Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotoniaLorenz, Claudius / Meyer-Kleine, Christof / Steinmeyer, Klaus et al. | 1994
- 947
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Are duplications of mitochondrial DNA characteristic of Kearns--Sayre syndrome?Poulton, Joanna / Morten, Karl J. / Weber, Katharina et al. | 1994
- 953
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Two complementation groups account for most cases of inherited MHC class II deficiencyLisowska-Grospierre, Barbara / Fondaneche, Marie-Claude / Rols, Marie-Pierre et al. | 1994
- 959
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The gene for arrhythmogenic right ventricular cardiomyopathy maps to chromosome 14q23-q24Rampazzo, Alessandra / Nava, Andrea / Danieli, Gian A. et al. | 1994
- 963
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Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patientNouspikel, Thierry / Clarkson, Stuart G. et al. | 1994
- 969
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Localization of the gene encoding the {alpha}2/{delta}-subunits of the L-type voltage-dependent calcium channel to chromosome 7q and analysis of the segregation of flanking markers in malignant hyperthermia susceptible familiesIles, D.E. / Lehmann-Horn, F. / Scherer, S.W. et al. | 1994
- 977
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Dominant optic atrophy (OPA1) mapped to chromosome 3q region. I. Linkage analysisEiberg, Hans / Kjer, Birgit / Kjer, Poul et al. | 1994
- 981
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A frequent ala 4 to val superoxide dismutase-1 mutation is associated with a rapidly progressive familial amyotrophic lateral sclerosisRosen, Daniel R. / Bowling, Allen C. / Patterson, David et al. | 1994
- 989
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A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 geneGuilford, Parry / Ayadi, Hamadi / Blanchard, Stéphane et al. | 1994
- 995
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One base deletion in the cysteine-rich domain of the dystrophin gene in Duchenne muscular dystrophy patientsTsukamoto, Hiroko / Inui, Koji / Matsuoka, Taro et al. | 1994
- 997
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Identification of two novel mutations and a new polymorphism in the gene for Cu/Zn superoxide dismutase in patients with amyotrophic lateral sclerosisEsteban, Jesus / Rosen, Daniel R. / Bowling, Allen C. et al. | 1994
- 999
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Identification of two new mutations (711 + 3A->G and V1397E) in CF chromosomes of Albanian and Macedonian originPetreska, Lidija / Koceva, Svetlana / Gordova-Muratovska, Aleksandra et al. | 1994
- 1001
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A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTRSchaedel, Charlotta / Kristoffersson, Ann-Charlotte / Kornfält, Ragnhild et al. | 1994
- 1003
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Two novel rare frameshift mutations (2423 del G in exon 13 and 1215 del G in exon 7) and one novel rare sequence variation (3271 + 18 C or T) identified in a patient with cystic fibrosisRomey, Marie-Catherine / Desgeorges, Marie / Laussel, Maguelone et al. | 1994
- 1005
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Two mutations, one novel and one frequently observed, in Japanese patients with McArdle's diseaseTsujino, Seiichi / Shanske, Sara / Goto, Yu-ichi et al. | 1994
- 1007
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A de novo mutation of the RET proto-oncogene in a patient with MEN 2AMulligan, Lois M. / Eng, Charis / Healey, Catherine S. et al. | 1994
- 1009
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A somatic mutation in the adenomatous polyposis coli (APC) gene in peripheral blood cells -- implications for predictive diagnosisMandl, Marion / Kadmon, Martina / Sengteller, Marlies et al. | 1994
- 1013
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Substitution of a cysteine residue in a non-calcium binding, EGF-like domain of fibrillin segregates with the Marfan syndrome in a large kindredPiersall, Linda D. / Dietz, Harry C. / Hall, Bryan D. et al. | 1994
- 1015
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A recurrent 14 bp deletion in the CLCN1 gene associated with generalized myotonia (Becker)Meyer-Kleine, Christof / Ricker, Kenneth / Otto, Michael et al. | 1994
- 1017
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Missense mutation in the choroideremia geneDonnelly, P. / Menet, H. / Fouanon, C. et al. | 1994
- 1019
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A nonsense mutation (R220X) in the {alpha}-galactosidase A gene detected in a female carrier of Fabry diseaseMeaney, Cathy / Blanch, Lianne C. / Morris, C.Phillip et al. | 1994
- 1021
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Pyruvate dehydrogenase deficiency caused by a 33 base pair duplication in the PDH E1{alpha} subunitHansen, Lise Lotte / Horn, Nina / Dahl, Hans-Henrik M. et al. | 1994
- 1023
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Four novel germ-line mutations in the APC gene detected by heteroduplex analysisHamzehloei, Tayebeh / West, Sarah P. / Chapman, Pam D. et al. | 1994
- 1025
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A new missense mutation, Arg719Gln, in the {beta}-cardiac heavy chain myosin gene of patients with familial hypertrophic cardiomyopathyConsevage, Michael W. / Salada, Grant C. / Baylen, Barry G. et al. | 1994
- 1027
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Isolation and fine mapping of (CA)n repeats from the Xp11.23 and Xp11.4 regionSchindelhauer, D. / Achatz, H. / Strom, T.M. et al. | 1994
- 1028
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Three microsatellite polymorphisms at the recoverin locus on chromosome 17Wiechmann, A.F. / Haro, K.C. / Bowden, D.W. et al. | 1994
- 1029
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Dinucleotide repeat polymorphisms at the DXS85, DXS16 and DXS43 lociChang, Y.-P.C. / Smith, K.D. / Dover, G.J. et al. | 1994
- 1030
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Dinucleotide repeat polymorphism at the DXS977 locusYan, D. / Wong, D. / Zheng, K. et al. | 1994
- 1030-a
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Dsal polymorphism at the human cone transducin {alpha}-subunit (GNAT2) detected by PCRRozet, J.-M. / Gerber, S. / Bonneau, D. et al. | 1994
- 1030b
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DsaI polymorphism at the human cone transducin alpha-subunit (GNAT2) detected by PCRRozet, JM / Gerber, S / Bonneau, D et al. | 1994
- 1031
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Polymorphisms in the keratin 8 gene detected by PCRMcLean, W.H.I. / Sultan, N. / Parfitt, E. et al. | 1994
- 1031-a
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SSCP at the BTK locusVorechovsky, I. et al. | 1994
- 1032
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Seven polymorphisms at the COL10A1 locusRash, B. / Sweetman, W. / Sykes, B. et al. | 1994
- 1033
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DXS997 localized to intron 48 of dystrophinSaad, F.A. / Busque, C. / Vitiello, L. et al. | 1994
- 1033-a
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Mutations in the connexin 32 gene in X-linked dominant Charcot--Marie--Tooth disease (CMTX1)Fairweather, N. / Bell, C. / Cochrane, S. et al. | 1994
- 1033-b
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Identification of six novel mutations in the CFTR gene of patients from Bulgaria by screening the twenty seven exons and exon/intron boundaries using DGGE and direct sequencingSavov, A. / Mercier, B. / Kalaydjieva, L. et al. | 1994
- 1033-c
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Author index| 1994