Volume 4; Issue 11

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Human Molecular Genetics
Volume 4; Issue 11

Human Molecular Genetics

Volume 4; Issue 11

1

Analysis of chromosome behavior in intact mammalian oocytes: monitoring the segregation of a univalent chromosome during female meiosis

Hunt, Patricia, LeMaire, Renée, Embury, Paula, Sheean, Leon, Mroz, Karen

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 1.60 MB

english, 1995

2

The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species

Savitsky, Kinneret, Sfez, Sharon, Tagle, Danilo A., Ziv, Yael, Sartiel, Adam, Collins, Francis S., Shiloh, Yosef, Rotman, Gallt

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 2.05 MB

english, 1995

3

Molecular analysis of de novo germline mutations in the von Hippel-Lindau disease gene

Richards, Frances M., Payne, Stewart J., Zbar, Berton, Affara, Nabeel A., Ferguson-Smith, Malcolm A., Maher, Eamonn R.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 2.33 MB

english, 1995

4

Somatic mutations in the hMSH2 gene in microsatellite unstable colorectal carcinomas

Børresen, Anne-Lise, Lothe, Ragnhild A., Meling, Gunn Iren, Lystad, Sigrid, Morrison, Paul, Lipford, James, Kane, Michael F., Rognum, Torleiv O., Kolodner, Richard D.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 8.70 MB

english, 1995

5

The mutational spectrum in Waardenburg syndrome

Tassabehji, M., Newton, V. E., Liu, X.-Z., Brady, A., Donnai, D., Krajewska-Walasek, M., Murday, V., Norman, A., Obersztyn, E., Reardon, W., Rice, J. C., Trembath, R., Wieacker, P., Whiteford, M., Win

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 2.04 MB

english, 1995

6

A common FGFR3 gene mutation in hypochondroplasia

Prinos, P., Costa, T., Sommer, A., Kilpatrick, M. W., Tsipouras, P.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 2.92 MB

english, 1995

7

Three new adenosine deaminase mutations that define a splicing enhancer and cause severe and partial phenotypes: implications for evolution of a CpG hotspot and expression of a transduced ADA cDNA

Santisteban, I., Arredondo-Vega, F. X., Kelly, S., Loubser, M., Meydan, N., Roifman, C., Howell, P. L., Bowen, T., Weinberg, K. I., Schroeder, M. L., Hershfield, M. S.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 5.54 MB

english, 1995

8

Mutation of PAX2 in two siblings with renal-coloboma syndrome

Sanyanusin, P., McNoe, L. A., Sullivan, M. J., Weaver, R. G., Eccles, M. R.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 209 KB

english, 1995

9

A promoter within intron 35 of the human C4A gene initiates abundant adrenal-specific transcription of a 1 kb RNA: location of a cryptic CYP21 promoter element?

Tee, M. K., Babalola, G. O., Aza-Blanc, P., Speek, M., Gitelman, S. E., Miller, W. L.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 3.83 MB

english, 1995

10

A novel mutation in the Norrie disease gene predicted to disrupt the cystine knot growth factor motif

Strasberg, P., Liede, H. A., Stein, T., Warren, I., Sutherland, J., Ray, P. N.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 1.67 MB

english, 1995

11

A duplication/paracentric inversion associated with familial X-linked deafness (DFN3) suggests the presence of a regulatory element more than 400 kb upstream of the POU3F4 gene

Kok, Y. J. M. d., Merkx, G. F. M., van der Maarel, S. M., Huber, I., Malcolm, S., Ropers, H.-H., Cremers, F. P. M.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 3.28 MB

english, 1995

12

Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I

Tavormina, P. L., Rimoin, D. L., Cohn, D. H., Zhu, Y.-Z., Shiang, R., Wasmuth, J. J.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 1.90 MB

english, 1995

13

A novel L23-related gene 40 kb downstream of the imprinted H19 gene is biallelically expressed in mid-fetal and adult human tissues

Tsang, P., Gilles, F., Yuan, L., Kuo, Y.-H., Lupu, F., Samara, G., Moosikasuwan, J., Goy, A., Zelenetz, A. D., Selleri, L., Tycko, B.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 52 KB

english, 1995

14

Molecular characterization and chromosomal localization of DRT (EPHT3): a developmentally regulated human protein--tyrosine kinase gene of the EPH family

Ikegaki, N., Tang, X. X., Liu, X.-G., Biegel, J. A., Allen, C., Yoshioka, A., Sulman, E. P., Brodeur, G. M., Pleasure, D. E.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 9.63 MB

english, 1995

15

Localization of a gene for non-syndromic hearing loss (DFNA5) to chromosome 7p15

Camp, G. V., Coucke, P., Balemans, W., Van Velzen, D., Van de Bilt, C., Van Laer, L., Smith, R. J. H., Fukushima, K., Padberg, G. W., Frants, R. R., Heyning, P. V. d., Smith, S. D., Huizing, E. H., Wi

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 500 KB

english, 1995

16

Detailed mapping and loss of heterozygosity analysis suggests a suppressor locus involved in sporadic breast cancer within a distal region of chromosome band 17p13.3

Stack, M., Jones, D., White, G., Liscia, D. S., Venesio, T., Casey, G., Crichton, D., Varley, J., Mitchell, E., Heighway, J., Santibanez-Koref, M.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 3.31 MB

english, 1995

17

A second autosomal split hand/split foot locus maps to chromosome 10q24-q25

Nunes, M. E., Schutt, G., Kapur, R. P., Luthardt, F., Kukolich, M., Byers, P., Evans, J. P.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 1.71 MB

english, 1995

18

Physical mapping of the Tec and Gabrb1 loci reveals that the Wsh mutation on mouse chromosome 5 is associated with an inversion

Nagle, D. L., Kozak, C. A., Mano, H., Chapman, V. M., Bucan, M.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 1.95 MB

english, 1995

19

Recombinant mapping of the familial hyperinsulinism gene to an 0.8 cM region on chromosome 11p15.1 and demonstration of a founder effect in Ashkenazi Jews

Glaser, B., Chiu, K. C., Liu, L., Anker, R., Nestorowicz, A., Cox, N. J., Landau, H., Kaiser, N., Thornton, P. S., Stanley, C. A., Cerasi, E., Baker, L., Donis-Keller, H., Permutt, M. A.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 65 KB

english, 1995

20

Gene amplification of the Menkes (MNK; ATP7A) P-type ATPase gene of CHO cells is associated with copper resistance and enhanced copper efflux

Camakaris, J., Petris, M. J., Bailey, L., Shen, P., Lockhart, P., Glover, T. W., Barcroft, C. L., Patton, J., Mercer, J. F. B.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 3.79 MB

english, 1995

21

Author index

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 62 KB

english, 1995

22

A mutation (T-45C) in the promoter region of the low-density-lipoprotein (LDL)-receptor gene is associated with a mild clinical phenotype in a patient with heterozygous familial hypercholesterolaemia (FH)

Sun, X.-M., Neuwirth, C., Wade, D. P., Knight, B. L., Soutar, A. K.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 4.92 MB

english, 1995

23

Mapping a gene (SRN1) to chromosome 1q25-q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis

Fuchshuber, A., Jean, G., Gribouval, O., Gubler, M.-C., Broyer, M., Beckmann, J. S., Niaudet, P., Antignac, C.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 361 KB

english, 1995

24

Germline mosaicism in a female who seemed to be a carrier by sequence analysis

Sommer, S. S., Knoll, A., Greenberg, C. R., Ketterling, R. P.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 2.07 MB

english, 1995

25

A G+1->A transversion at the 5' splice site of intron 69 of the dystrophin gene causing the absence of peripheral nerve Dp 116 and severe clinical involvement in a DMD patient

Comi, G. P., Ciafaloni, E., de Silva, H. A. R., Prelle, A., Bardoni, A., Rigoletto, C., Robotti, M., Bresolin, N., Moggio, M., Fortunato, F., Ciscato, P., Turconi, A., Rose, A. D., Scarlato, G.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 2.00 MB

english, 1995

26

A new locus for arrhythmogenic right ventricular cardiomyopathy (ARVD2) maps to chromosome 1q42-q43

Rampazzo, A., Nava, A., Erne, P., Eberhard, M., Vian, E., Slomp, P., Tiso, N., Thiene, G., Danieli, G. A.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 326 KB

english, 1995

27

Nuclear DNA origin of cytochrome c oxidase deficiency in Leigh's syndrome: genetic evidence based on patient's-derived rho transformants

Tiranti, V., Munaro, M., Sandona, D., Lamantea, E., Rimoldi, M., DiDonato, S., Bisson, R., Zeviani, M.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 2.94 MB

english, 1995

28

Interstitial deletion of the Endothelin-B receptor gene in the spotting lethal (sl) rat

Ceccherini, I., Zhang, A. L., Matera, I., Yang, G., Devoto, M., Romeo, G., Cass, D. T.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 5.38 MB

english, 1995

29

Normal phenotype in two brothers with a full FMR1 mutation

Smeets, H. J. M., Smits, A. P. T., Verheij, C. E., Theelen, J. P. G., Willemsen, R., Burgt, I. v. d., Hoogeveen, A. T., Oosterwijk, J. C., Oostra, B. A.

Journal:

Human Molecular Genetics

Year:

1995

File:

PDF, 48.24 MB

1995