Volume 84; Issue 3

American Journal of Medical Genetics

Volume 84; Issue 3

1

Trinucleotide CGG repeat in theFMR1 gene in Chinese mentally retarded patients

Pang, C.P., Poon, Priscilla M.K., Chen, Qian L., Lai, Kelly Y.C., Yin, Chang H., Zhao, Zheng, Zhong, Nan, Lau, C.H., Lam, Stephen T.S., Wong, Chung K., Brown, W. Ted

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 68 KB

english, 1999

2

Molecular screening of fragile X (FRAXA) and FRAXE mental retardation syndromes in the Hellenic population of Greece and Cyprus: Incidence, genetic variation, and stability

Patsalis, P.C., Sismani, C., Hettinger, J.A., Boumba, I., Georgiou, I., Stylianidou, G., Anastasiadou, V., Koukoulli, R., Pagoulatos, G., Syrrou, M.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 126 KB

english, 1999

3

Frequency of the fragile X syndrome in Chinese mentally retarded populations is similar to that in Caucasians

Zhong, Nan, Ju, Weina, Xu, Weimin, Ye, Lingling, Shen, Yan, Wu, Guangyun, Chen, Shi-han, Jin, Runming, Hu, Xiao-feng, Yang, Aide, Liu, Xixian, Poon, Priscilla, Pang, Calvin, Zheng, Yu, Song, Li, Zhao,

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 66 KB

english, 1999

4

Frequencies of ?grey-zone? and premutation-sizeFMR1 CGG-repeat alleles in patients with developmental disability in Cyprus and Canada

Patsalis, Philippos C., Sismani, Carolina, Hettinger, Joe A., Holden, Jeanette J.A., Lawson, J. Stuart, Chalifoux, Maryse, Wing, Maggie, Walker, Melissa, Leggo, Jayne

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 42 KB

english, 1999

5

Fully mutated and gray-zoneFRAXA alleles in Brazilian mentally retarded boys

Haddad, Luciana A., Aguiar, Marcos J.B., Costa, S�lvia S., Mingroni-Netto, Regina C., Vianna-Morgante, Angela M., Pena, S�rgio D.J.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 102 KB

english, 1999

6

Frequency of fragile X syndrome among Turkish patients with mental retardation of unknown etiology

Tun�bilek, Erg�l, Alikasifo??lu, Mehmet, Boduro??lu, Koray, Aktas, Dilek, Anar, Bur�u

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 42 KB

english, 1999

7

DXS548/FRAXAC1 haplotypes in fragile X chromosomes in the Brazilian population

Mingroni-Netto, Regina C., Costa, S�lvia S., Angeli, Cl�udia B., Vianna-Morgante, Angela M.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 57 KB

english, 1999

8

FRAXAC1 and DXS548 polymorphisms in the Chinese population

Poon, Priscilla M.K., Pang, C.P., Chen, Qian L., Zhong, Nan, Lai, Kelly Y.C., Lau, C.H., Wong, C.K., Brown, W. Ted

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 68 KB

english, 1999

9

Haplotype analysis of the fragile X syndrome geneFMR1 in the Czech Republic

Pekar�k, Vladim�r, Blazkov�, Michaela, Koz�k, Libor

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 74 KB

english, 1999

10

Genetic variation and intergenerationalFMR1 CGG-repeat stability in 100 unrelated three-generation families from the normal population

Patsalis, P.C., Sismani, C., Stylianou, S., Ioannou, P., Joseph, G., Manoli, P., Holden, J.J.A., Hettinger, J.A.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 62 KB

english, 1999

11

Mosaicism for a full mutation and a normal size allele in two fragile X males

Schmucker, Beatrice, Seidel, J�rg

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 364 KB

english, 1999

12

Mitotic behavior of expanded CGG repeats studied on cultured cells: Further evidence for methylation-mediated triplet repeat stability in fragile X syndrome

Gl�ser, Dieter, W�hrle, Doris, Salat, Ulrike, Vogel, Walther, Steinbach, Peter, M�cke, J�rgen

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 219 KB

english, 1999

13

Tissue heterogeneity of theFMR1 mutation in a high-functioning male with fragile X syndrome

Taylor, Annette K., Tassone, Flora, Dyer, Pamela N., Hersch, Steven M., Harris, Jennifer B., Greenough, William T., Hagerman, Randi J.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 416 KB

english, 1999

14

Strong similarities of theFMR1 mutation in multiple tissues: Postmortem studies of a male with a full mutation and a male carrier of a premutation

Tassone, Flora, Hagerman, Randi J., Gane, Louise W., Taylor, Annette K.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 338 KB

english, 1999

15

Postmortem examination of two fragile X brothers with anFMR1 full mutation

Reyniers, Edwin, Martin, Jean-Jacques, Cras, Patrick, Van Marck, Eric, Handig, Ingrid, Jorens, Hugo Z.J., Oostra, Ben A., Kooy, R. Frank, Willems, Patrick J.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 152 KB

english, 1999

16

FMRP expression as a potential prognostic indicator in fragile X syndrome

Tassone, Flora, Hagerman, Randi J., Ikl�, David N., Dyer, Pamela N., Lampe, Megan, Willemsen, Rob, Oostra, Ben A., Taylor, Annette K.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 166 KB

english, 1999

17

Single-strand conformation polymorphism analysis in theFMR1

Castellv�-Bel, S., S�nchez, A., Badenas, C., Mallolas, J., Barcel�, A., Jim�nez, D., Villa, M., Estivill, X., Mil�, M.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 117 KB

english, 1999

18

In vivo footprinting analysis of the FMR1 gene: Proposals concerning gene regulation in high-functioning males

Schwemmle, Sabine

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 66 KB

english, 1999

19

Reduced mRNA for G3BP in fragile X cells: Evidence of FMR1 gene regulation

Zhong, Nan, Ju, Weina, Nelson, David, Dobkin, Carl, Brown, W. Ted

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 101 KB

english, 1999

20

KH domain-containing proteins of yeast: Absence of a fragile X gene homologue

Currie, Julia R., Brown, W. Ted

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 60 KB

english, 1999

21

Learning and memory in theFMR1 knockout mouse

Fisch, Gene S., Hao, Hui K., Bakker, Cathy, Oostra, Ben A.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 151 KB

english, 1999

22

Search for aCaenorhabditis elegans FMR1 homologue: Identification of a new putative RNA-binding protein (PRP-1) that hybridizes to the mouse FMR1 double K homology domain

Shtang, Sharon, Perry, Marc D., Percy, Maire E.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 110 KB

english, 1999

23

Possible founder effects for FRAXE alleles

Limprasert, Pornprot, Zhong, Nan, Currie, Julia R., Brown, W. Ted

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 77 KB

english, 1999

24

Longitudinal changes in cognitive-behavioral levels in three children with FRAXE

Fisch, Gene S., Carpenter, Nancy J., Simensen, Richard, Smits, Arie P.T., van Roosmalen, Tanja, Hamel, Ben C.J.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 43 KB

english, 1999

25

Mapping of a gene (MRXS9) for X-linked mental retardation, microcephaly, and variably short stature to Xq12-q21.31

Shrimpton, Antony E., Daly, Kathleen M., Hoo, Joe J.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 245 KB

english, 1999

26

Premature ovarian failure (POF) and fragile X premutation females: From POF to fragile X carrier identification, from fragile X carrier diagnosis to POF association data

Uzielli, M.L. Giovannucci, Guarducci, S., Lapi, E., Cecconi, A., Ricci, U., Ricotti, G., Biondi, C., Scarselli, B., Vieri, F., Scarnato, P., Gori, F., Sereni, A.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 69 KB

english, 1999

27

Improved amplification of the FMR2 GCC repeat from dried blood spots

Leggo, Jayne, Holden, Jeanette J.A.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 57 KB

english, 1999

28

Fragile X premutations and (TA)n estrogen receptor polymorphism in women with ovarian dysfunction

Syrrou, Maria, Georgiou, Ioannis, Patsalis, Philippos C., Bouba, Ioanna, Adonakis, George, Pagoulatos, Gerassimos N.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 51 KB

english, 1999

29

Distribution of apolipoprotein E genotypes in fragile X syndrome and Batten disease

Zhong, Nan, Ju, Weina, Brown, W. Ted, Ye, LingLing, Jenkins, Edmund C., Schupf, Nicole

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 46 KB

english, 1999

30

Mosaicism in a fragile X male including a de novo deletion in the FMR1 gene

Erwin Petek, Peter M. Kroisel, Margit Schuster, Hannelore Zierler, Klaus Wagner

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 134 KB

english, 1999

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