Volume 64; Issue 2

American Journal of Medical Genetics

Volume 64; Issue 2

1

Transgenic mouse model for the fragile X syndrome

Kooy, R. Frank, D'Hooge, Rudi, Reyniers, Edwin, Bakker, Cathy E., Nagels, Guy, De Boulle, Kristel, Storm, Katrien, Clincke, Gilbert, De Deyn, Peter P., Oostra, Ben A., Willems, Patrick J.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 513 KB

english, 1996

2

Long-term potentiation in the hippocampus of fragile X knockout mice

Godfraind, Jean-Marie, Reyniers, Edwin, De Boulle, Kristel, D'Hooge, Rudi, De Deyn, Peter P., Bakker, Cathy E., Oostra, Ben A., Kooy, R. Frank, Willems, Patrick J.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 676 KB

english, 1996

3

Alternative splicing of the FMR1 gene in human fetal brain neurons

Huang, Tao, Li, Lan-Ying, Shen, Yan, Qin, Xue-bin, Pang, Zhi-Ling, Wu, Guan-Yun

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 413 KB

english, 1996

4

Examination of factors that influence the expansion of the fragile X mutation in a sample of conceptuses from known carrier females

Sherman, Stephanie L., Meadows, Kellen L., Ashley, Allison E.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 532 KB

english, 1996

5

Fragile X “gray zone” alleles: AGG patterns, expansion risks, and associated haplotypes

Zhong, Nan, Ju, Weina, Pietrofesa, James, Wang, Daowen, Dobkin, Carl, Brown, W. Ted

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 610 KB

english, 1996

6

Slight instability of a FMR-1 allele over three generations in a family from the general population

Abramowicz, Marc J., Parma, Jasmine, Cochaux, Pascale

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 230 KB

english, 1996

7

The number of CGG repeats of the FMR1 locus in premutated and fully mutated heterozygotes and their offspring: Implications for the origin of mosaicism

Mingroni-Netto, Regina C., Haddad, Luciana A., Vianna-Morgante, Angela M.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 399 KB

english, 1996

8

Molecular-intelligence correlations in young fragile X males with a mild CGG repeat expansion in the FMR1 gene

Steyaert, Jean, Borghgraef, Martine, Legius, Eric, Fryns, Jean-Pierre

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 484 KB

english, 1996

9

A fragile X male with a broad smear on southern blot analysis representing 100–500 CGG repeats and no methylation at theEagI site of the FMR-1 gene

Lachiewicz, A. M., Spiridigliozzi, G. A., McConkie-Rosell, A., Burgess, D., Feng, Y., Warren, S. T., Tarleton, J.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 585 KB

english, 1996

10

Premutation for the Martin-Bell syndrome analyzed in a large Sardinian family: III. Molecular analysis with the StB12.3 probe

Grasso, Marina, Perroni, Lucia, Dagna-Bricarelli, Franca, Rinaldi, Antoniettina, Robledo, Renato, Siniscalco, Marcello, Filippi, Giorgio

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 378 KB

english, 1996

11

Reverse mutations in the fragile X syndrome

Brown, W. Ted, Houck, George E., Ding, Xiaohua, Zhong, Nan, Nolin, Sarah, Glicksman, Anne, Dobkin, Carl, Jenkins, Edmund C.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 580 KB

english, 1996

12

Deletion in the FMR1 gene in a fragile-X male

Mannermaa, Arto, Pulkkinen, Leena, Kajanoja, Eliisa, Ryynänen, Markku, Saarikoski, Seppo

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 298 KB

english, 1996

13

Tissue differences in fragile X mosaics: Mosaicism in blood cells may differ greatly from skin

Dobkin, Carl S., Nolin, Sarah L., Cohen, Ira, Sudhalter, Vicki, Bialer, Martin G., Ding, Xiao-Hua, Jenkins, E. C., Zhong, Nan, Brown, W. Ted

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 661 KB

english, 1996

14

The fragile X phenotype in a mosaic male with a deletion showing expression of theFMR1 protein in 28% of the cells

de Graaff, Esther, de Vries, Bert B. A., Willemsen, Rob, van Hemel, Jan O., Mohkamsing, Serieta, Oostra, Ben A., van den Ouweland, Ans M. W.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 790 KB

english, 1996

15

A fragile X mosaic male with a cryptic full mutation detected in epithelium but not in blood

Maddalena, Anne, Yadvish, Karen N., Spence, W. Christine, Howard-Peebles, Patricia N.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 492 KB

english, 1996

16

A rapid, reliable, and inexpensive method for detection of di- and trinucleotide repeat markers and disease loci from dried blood spots

Holden, Jeanette J. A., Chalifoux, Maryse, Wing, Maggie, Julien-Inalsingh, Colin, White, Bradley N.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 564 KB

english, 1996

17

Rater reliability of fragile X mutation size estimates: A multilaboratory analysis

Fisch, Gene S., Carpenter, Nancy, Maddalena, Anne, Tarleton, Jack, Julien-Inalsingh, Colin, Holden, Jeanette J. A.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 403 KB

english, 1996

18

Neuropsychological profiles of three sisters homozygous for the fragile X premutation

Mazzocco, Michèle M. M., Holden, Jeanette J. A.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 634 KB

english, 1996

19

Tissue-specific methylation differences and cognitive function in fragile X premutation females

Allingham-Hawkins, Diane J., Brown, Charlotte A., Babul, Riyana, Chitayat, David, Krekewich, Karla, Humphries, Tom, Ray, Peter N., Teshima, Ikuko E.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 541 KB

english, 1996

20

Fragile-X carrier females: Evidence for a distinct psychopathological phenotype?

Franke, Petra, Maier, Wolfgang, Hautzinger, Martin, Weiffenbach, Olaf, Gänsicke, Michael, Iwers, Björn, Poustka, Fritz, Schwab, Sibylle G., Froster, Ursula

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 657 KB

english, 1996

21

Molecular/clinical correlations in females with fragile X

Sobesky, William E., Taylor, Annette K., Pennington, Bruce F., Bennetto, Loisa, Porter, Deborah, Riddle, Jeannette, Hagerman, Randi J.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 685 KB

english, 1996

22

A controlled study of longitudinal IQ changes in females and males with fragile X syndrome

Wright-Talamante, Cara, Cheema, Asma, Riddle, Jeannette E., Luckey, Dennis W., Taylor, Annette K., Hagerman, Randi J.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 678 KB

english, 1996

23

Longitudinal study of cognitive abilities and adaptive behavior levels in fragile X males: A prospective multicenter analysis

Fisch, Gene S., Simensen, Richard, Tarleton, Jack, Chalifoux, Maryse, Holden, Jeanette J. A., Carpenter, Nancy, Howard-Peebles, Patricia N., Maddalena, Anne

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 656 KB

english, 1996

24

Lack of association between mutation size and cognitive/behavior deficits in fragile X males: A brief report

Fisch, Gene S., Carpenter, Nancy, Howard-Peebles, Patricia N., Maddalena, Anne, Simensen, Richard, Tarleton, Jack, Julien-Inalsingh, Colin, Chalifoux, Maryse, Holden, Jeanette J. A.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 316 KB

english, 1996

25

Mosaicism for theFMR1 gene influences adaptive skills development in fragile X-affected males

Cohen, Ira L., Nolin, Sarah L., Sudhalter, Vicki, Ding, Xiao-Hua, Dobkin, Carl S., Brown, W. Ted

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 502 KB

english, 1996

26

Confirmation of early menopause in fragile X carriers

Partington, M. W., Moore, D. York, Turner, G. M.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 226 KB

english, 1996

27

FRAXA premutation associated with premature ovarian failure

Vianna-Morgante, Angela M., Costa, Silvia S., Pares, Annunziata S., Verreschi, Ieda T. N.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 239 KB

english, 1996

28

Experiences and attitudes concerning genetic testing and insurance in a Colorado population: A survey of families diagnosed with fragile X syndrome

Wingrove, Karen J., Norris, Jill, Barton, Phoebe Lindsey, Hagerman, Randi

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 383 KB

english, 1996

29

Expanding the role of the genetic counselor

Staley-Gane, Louise, Flynn, Linda, Neitzel, Kari, Cronister, Amy, Hagerman, Randi J.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 778 KB

english, 1996

30

Molecular-clinical correlations in males with an expanded FMR1 mutation

Merenstein, Scott A., Sobesky, William E., Taylor, Annette K., Riddle, Jeannette E., Tran, Hieu X., Hagerman, Randi J.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 714 KB

english, 1996

31

Fragile X mutation and FG syndrome-like phenotype

Piussan, Ch., Mathieu, M., Berquin, P., Fryns, J. P.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 454 KB

english, 1996

32

Lack of expansion of triplet repeats in the FMR1, FRAXE, and FRAXF loci in male multiplex families with autism and pervasive developmental disorders

Holden, Jeanette J. A., Wing, Maggie, Chalifoux, Maryse, Julien-Inalsingh, Colin, Schutz, Chris, Robinson, Paula, Szatmari, Peter, White, Bradley N.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 498 KB

english, 1996

33

Segregation of the fragile X mutation from a male with a full mutation: Unusual somatic instability in the FMR-1 locus

Kambouris, Marios, Snow, Karen, Thibodeau, Stephen, Bluhm, Denise, Green, Michael, Feldman, Gerald L.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 469 KB

english, 1996

34

Severe mental retardation and macroorchidism without mutation in the FMR1 gene

Reyniers, Edwin, Wolff, Gerhard, Tariverdian, Gholamali, De Boulle, Kristel, Storm, Katrien, Kooy, R. Frank, Willems, Patrick J.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 533 KB

english, 1996

35

A survey ofFRAXE allele sizes in three populations

Zhong, Nan, Ju, Weina, Curley, Dennis, Wang, Daowen, Pietrofesa, James, Wu, Guanyan, Shen, Yan, Pang, Calvin, Poon, Priscilla, Liu, Xixian, Gou, Shen, Kajanoja, Eliisa, Ryynänen, Markku, Dobkin, Carl,

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 549 KB

english, 1996

36

Trinucleotide repeat expansion in the FRAXE locus is not common among institutionalized individuals with non-specific developmental disabilities

Holden, J. J. A., Julien-Inalsingh, C., Chalifoux, M., Wing, M., Scott, E., Fidler, K., Swift, I., Maidment, B., Knight, S. J. L., Davies, K. E., White, B. N.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 367 KB

english, 1996

37

Trinucleotide repeats at the FRAXF locus: Frequency and distribution in the general population

Holden, Jeanette J. A., Walker, Melissa, Chalifoux, Maryse, White, Bradley N.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 476 KB

english, 1996

38

Survey of the fragile X syndrome and the fragile X E syndrome in a special education needs population

Meadows, Kellen L., Pettay, Dorothy, Newman, James, Hersey, Jane, Ashley, Allison E., Sherman, Stephanie L.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 564 KB

english, 1996

39

FRAXE mutation analysis in three spanish families

Carbonell, Pablo, López, Isabel, Gabarrón, Joaquina, Bernabé, M. J., Lucas, J. M., Guitart, Miriam, Gabau, E., Glover, Guillermo

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 722 KB

english, 1996

40

Amplification of the Xq28 FRAXE repeats: Extreme phenotype variability?

Murgia, A., Polli, R., Vinanzi, C., Salis, M., Drigo, P., Artifoni, L., Zacchello, F.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 362 KB

english, 1996

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