Human molecular genetics
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Inhaltsverzeichnis
- 1717
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Expression of the Kallmann syndrome gene in human fetal brain and in the manipulated chick embryoLutz, Beat / Kuratani, Shigeru / Rugarli, Elena I. et al. | 1994
- 1725
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Prevention of dystrophic pathology in mdx mice by a truncated dystrophin isoformRafael, Jill A. / Sunada, Yoshihide / Cole, Neil M. et al. | 1994
- 1735
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A transcript map of the Down syndrome critical region on chromosome 21Peterson, Andrew / Patil, Nila / Robbins, Carolyn et al. | 1994
- 1743
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Genomic organization of the Btk gene and exon scanning for mutations in patients with X-linked agammaglobulinemiaHagemann, Tracy L. / Chen, Yuexin / Rosen, Fred S. et al. | 1994
- 1751
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Screening of genomic DNA to identify mutations in the gene for Bruton's tyrosine kinaseConley, Mary Ellen / Fitch-Hilgenberg, Marjorie E. / Cleveland, John L. et al. | 1994
- 1757
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Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosisFiglewicz, Denise A. / Krizus, Aldis / Martinoli, Maria G. et al. | 1994
- 1763
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Deficiency of the human mitochondrial transcription factor h-mtTFA in infantile mitochondrial myopathy is associated with mtDNA depletionPoulton, J. / Morten, K. / Freeman-Emmerson, C. et al. | 1994
- 1771
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Haplotype analysis of MEN 2 mutationsGardner, Emily / Mulligan, Lois M. / Eng, Charis et al. | 1994
- 1775
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The phospholipase C {beta}3 gene located in the MEN1 region shows loss of expression in endocrine tumoursWeber, Günther / Friedman, Eitan / Grimmond, Sean et al. | 1994
- 1783
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Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) geneFrederick, Gregory D. / Amirkhan, Robin H. / Schultz, Roger A. et al. | 1994
- 1789
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The gene for diffuse palmoplantar keratoderma of the type found in northern Sweden is localized to chromosome 12q11-q13Lind, Lisbet / Lundström, Anita / Hofer, Per-Åke et al. | 1994
- 1795
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Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the {alpha}-galactosidase A geneEng, Christine M. / Niehaus, Dana J. / Enriquez, Annette L. et al. | 1994
- 1801
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High resolution fluorescence in situ hybridization to linearly extended DNA visually maps a tandem repeat associated with facioscapulohumeral muscular dystrophy immediately adjacent to the telomere of 4qBengtsson, Ulla / Altherr, Michael R. / Wasmuth, John J. et al. | 1994
- 1807
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Characterization and expression of cDNA encoding coproporphyrinogen oxidase from a patient with hereditary coproporphyriaFujita, Hiroyoshi / Kondo, Masao / Taketani, Shigeru et al. | 1994
- 1811
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A high resolution physical map of 2.5 Mbp of the Down syndrome region on chromosome 21Patil, Nila / Peterson, Andrew / Rothman, Alana et al. | 1994
- 1819
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A heat shock gene at 14q22: mapping and expressionRoux, Anne-Françoise / Nguyen, T.T. Van / Squire, Jeremy A. et al. | 1994
- 1823
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Loss of mutation at the FMR1 locus through multiple exchanges between maternal X chromosomesOuweland, Ans M.W. van den / Deelen, Wout H. / Kunst, Catherine B. et al. | 1994
- 1829
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9q34 loss of heterozygosity in a tuberous sclerosis astrocytoma suggests a growth suppressor-like activity also for the TSC1 geneCarbonara, Caterina / Longa, Lucia / Grosso, Enrico et al. | 1994
- 1833
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The tuberous sclerosis gene on chromosome 9q34 acts as a growth suppressorGreen, Andrew J. / Johnson, Philip H. / Yates, John R.W. et al. | 1994
- 1835
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Identification of two mutant alleles of transcobalamin II in an affected familyLi, Ning / Rosenblatt, David S. / Kamen, Barton A. et al. | 1994
- 1841
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MTS1/CDKN2 gene mutations are rare in primary human astrocytomas with allelic loss of chromosome 9pUeki, Keisuke / Rubio, Mari-Paz / Ramesh, Vijaya et al. | 1994
- 1847
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Sequence organization of the human chromosome 2q telomereMacina, Roberto A. / Negorev, Dmitri G. / Spais, Chrysanthe et al. | 1994
- 1855
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Detection of a novel RYR1 mutation in four malignant hyperthermia pedigreesKeating, Katherine E. / Quane, Kathleen A. / Manning, Bernadette M. et al. | 1994
- 1859
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A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR geneVincent, Christophe / Kalatzis, Vasiliki / Compain, Sylvie et al. | 1994
- 1867
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Linkage of a locus for autosomal dominant familial spastic paraplegia to chromosome 2p markersHentati, Afif / Pericak-Vance, Margaret A. / Lennon, Felicia et al. | 1994
- 1873
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Polycystic ovaries and premature male pattern baldness are associated with one allele of the steroid metabolism gene CYP17Carey, Adam H. / Waterworth, Dawn / Patel, Kirty et al. | 1994
- 1877
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Identification of a novel paternally expressed gene in the Prader - Willi syndrome regionWevrick, Rachel / Kerns, Julie A. / Francke, Uta et al. | 1994
- 1883
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Characterization of a cystathionine {beta}-synthase allele with three mutations in cis in a patient with B6 nonresponsive homocystinuriaMarble, Michael / Geraghty, Michael T. / de Franchis, Raffaella et al. | 1994
- 1887
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A novel nonsense mutation identified in the first nucleotide binding fold of the CFTR gene in a Greek patientBalassopoulou, Angeliki / Papadakis, Manos / Loukopoulos, Dimitris et al. | 1994
- 1889
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Identification of a new frameshift mutation (1801delAG) in the ALD geneBarceló, A. / Girós, M. / Sarde, C.O. et al. | 1994
- 1891
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Alternative splicing as the result of a type II procollagen gene (COL2A1) mutation in a patient with Kniest dysplasiaWinterpacht, Andreas / Schwarze, Ulrike / Mundlos, Stefan et al. | 1994
- 1895
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RET proto-oncogene mutations in inherited and sporadic medullary thyroid cancerBlaugrund, James E. / Johns, Michael M. / Eby, Yolanda J. et al. | 1994
- 1899
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Unique mutations of Bruton's tyrosine kinase in fourteen unrelated X-linked agammaglobulinemia familiesZhu, Qili / Zhang, Min / Winkelstein, Jerry et al. | 1994
- 1901
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Two new mutations affecting the donor splice site of COL3A1 IVS37 and causing skipping of exon 37 in patients with Ehlers--Danlos syndrome type IVRichards, Allan J. / Narcisi, Paolo / Ferguson, Carole et al. | 1994
- 1903
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Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD)Fuchs, Sigrid / Sarde, Claude Olivier / Wedemann, Heike et al. | 1994
- 1907
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Novel small mutations along the DMD/BMD gene associated with different phenotypesNigro, Vincenzo / Nigro, Giovanni / Esposito, Maria Grazia et al. | 1994
- 1909
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A novel homozygous nonsense mutation in the LAMC2 gene in patients with the Herlitz junctional epidermolysis bullosaBaudoin, Christian / Miquel, Corinne / Gagnoux-Palacios, Laurent et al. | 1994
- 1911
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Six microsatellite polymorphisms at candidate and confirmed tumour suppressor gene lociJones, M.H. / Sato, T. / Saito, H. et al. | 1994
- 1912
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A common insertion/deletion polymorphism in the Prader--Willi syndrome minimal critical regionGabriel, J. / Gottlieb, W. / Garcia, A. et al. | 1994
- 1913
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Tetranucleotide repeat polymorphism at the D8S492 locusWard, K. / Nelson, L. / Lu, J. et al. | 1994
- 1913-a
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The same polymorphism identified by the DXS571(B) and DXS1105 lociBarker, D.F. / Cordray, P. / Fain, P.R. et al. | 1994
- 1914
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Dinucleotide repeat polymorphism at the NF2 geneBourn, D. / Strachan, T. et al. | 1994
- 1914-a
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A Bg/II polymorphism in the COL4A6 geneRenieri, A. / Galli, L. / Zhou, J. et al. | 1994
- 1915
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Single nucleotide polymorphism in exon 2 of the BCP gene on 7q31 - q35Jordan, S.A. / Humphries, P. et al. | 1994
- 1915-a
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GA repeat polymorphism at the PRM2 male fertility locusJonckheere, J. De / Nelson, J.E. / Ginsburg, K.A. et al. | 1994
- 1916
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Detection of a Rsal polymorphism within the human galactokinase gene (GK2) by PCR -- SSCPLau, C.C. / Mok, S.C. / Kelley, A. et al. | 1994
- 1916a
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Detection of a RsaI polymorphism within the human galactokinase gene (GK2) by PCR-SSCPLau, CC / Mok, SC / Kelley, A et al. | 1994
- 1916-a
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Polymorphism of the HLA-90 new class I geneLegras, C. / Alizadeh, M. / Fauchet, R. et al. | 1994
- 1917
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Author index| 1994
- 1918
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Four novel mutations of the APC (adenomatous polyposis coli) gene in FAP patientsStella, A. / Montera, M. / Resta, N. et al. | 1994