Volume 64; Issue 1

American Journal of Medical Genetics

Volume 64; Issue 1

1

Seventh international workshop on the fragile X and X-linked mental retardation

Tranebjærg, Lisbeth, Lubs, Herbert A., Borghgraef, Martine, Brown, W. Ted, Fisch, Gene, Fryns, Jean-Pierre, Hagerman, Randi, Jacobs, Patricia A., Mandel, Jean-Louis, Mulley, John, Oostra, Ben, Schwart

Journal:

American Journal of Medical Genetics

Year:

1996

File:

PDF, 1.70 MB

1996

2

Further linkage evidence for localization of mutational sites for nonsyndromic types of X-linked mental retardation at the pericentromeric region

Robledo, Renato, Melis, Paola, Laficara, Francesco, Marchi, Jula, Rinaldi, Antoniettina, Siniscalco, Marcello, Filippi, Giorgio

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 488 KB

english, 1996

3

Regional localization of two non-specific X-linked mental retardation genes (MRX30 andMRX31)

Donnelly, Andrew J., Partington, Michael W., Ryan, Anna K., Mulley, John C.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 620 KB

english, 1996

4

Genetic localisation of MRX27 to Xq24-26 defines another discrete gene for non-specific X-linked mental retardation

Gedeon, A. K., Glass, I. A., Connor, J. M., Mulley, J. C.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 393 KB

english, 1996

5

Regional localization of two MRX genes to Xq28 (MRX28) and to Xp11.4-Xp22.12 (MRX33)

Holinski-Feder, E., Golla, A., Rost, I., Seidel, H., Rittinger, O., Meindl, A.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 609 KB

english, 1996

6

A gene for nonspecific X-linked mental retardation (MRX41) is located in the distal segment of Xq28

Hamel, Ben C. J., Kremer, Hannie, Swaay, Eveline Wesby-van, van den Helm, Bellinda, Smits, Arie P. T., Oostra, Ben A., Ropers, Hans-Hilger, Mariman, Edwin C. M.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 292 KB

english, 1996

7

Letter to the editor: +2.71 LOD score at zero recombination is not sufficient for establishing linkage between X-linked mental retardation and X-chromosome markers

Robledo, Renato, Melis, Paola, Siniscalco, Marcello, Marchi, Jula, Laficara, Francesco, Rinaldi, Antoniettina, Rocchi, Mariano, Filippi, Giorgio

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 245 KB

english, 1996

8

Linkage analysis in three families with nonspecific X-linked mental retardation

Claes, S., Gu, X. X., Legius, E., Lorenzetti, E., Marynen, P., Fryns, J. P., Cassiman, J. J., Raeymaekers, P.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 845 KB

english, 1996

9

XLMRgenes: Update 1996

Lubs, Herbert A., Chiurazzi, Pietro, Arena, J. Fernando, Schwartz, Charles, Tranebjaerg, Lisbeth, Neri, Giovanni

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 1.15 MB

english, 1996

10

Letter to the editor: How many X-linked genes for non-specific mental retardation (MRX) are there?

Gedeon, Agi K., Donnelly, Andrew J., Mulley, John C., Kerr, Bronwyn, Turner, Gillian

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 479 KB

english, 1996

11

Letter to the Editor: Mapping of the loci for mental retardation syndromes in the distal Xq

Schmidt, Malgorzata

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 320 KB

english, 1996

12

Letter to the Editor: Comparison of female and male interstitial deletions in the distal Xq

Schmidt, Malgorzata

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 275 KB

english, 1996

13

Study of X-linked mental retardation (XLMR): Summary of 61 families in the Miami Greenwood study

Lubs, H. A., Schwartz, C. E., Stevenson, R. E., Arena, J. F.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 749 KB

english, 1996

14

Molecular and cytogenetic analysis of the fragile X syndrome in a series of 453 mentally retarded subjects: A study of 87 families

Perroni, L., Grasso, M., Argusti, A., Nigro, C. Lo, Croci, G. F., Zelante, L., Garani, G. P., Bricarelli, F. Dagna

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 411 KB

english, 1996

15

Molecular fragile X screening in normal populations

Spence, W. Christine, Black, Susan H., Fallon, Lee, Maddalena, Anne, Cummings, Emily, Menapace-Drew, Gianna, Bick, David P., Levinson, Gene, Schulman, Joseph D., Howard-Peebles, Patricia N.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 337 KB

english, 1996

16

Frequency of Fra X syndrome among institutionalized mentally retarded males in Poland

Mazurczak, Tadeusz, Bocian, Ewa, Milewski, Michal, Obersztyn, Ewa, Stánczak, Halina, Bal, Jerzy, Szamotulska, Katarzyna, Karwacki, Marek W.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 322 KB

english, 1996

17

Prenatal diagnosis of 30 fetuses at risk for fragile X syndrome

Grasso, M., Perroni, L., Colella, S., Piombo, G., Argusti, A., Lituania, M., Buscaglia, M., Giussani, U., Grimoldi, M. G., Bricarelli, F. Dagna

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 344 KB

english, 1996

18

Prenatal diagnosis and carrier screening for fragile X by PCR

Brown, W. Ted, Nolin, Sarah, Houck, George, Ding, Xiaohua, Glicksman, Anne, Li, Shu-Yun, Stark-Houck, Sandra, Brophy, Patricia, Duncan, Charlotte, Dobkin, Carl, Jenkins, Ed

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 575 KB

english, 1996

19

Prevalence of fragile X syndrome

Turner, G., Webb, T., Wake, S., Robinson, H.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 237 KB

english, 1996

20

Informed choice in fragile X syndrome and its effects on prevalence

Robinson, H., Wake, S., Wright, F., Laing, S., Turner, G.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 443 KB

english, 1996

21

Editorial comment: Significance of linkage disequilibrium between the fragile X locus and its flanking markers

Chiurazzi, P., Macpherson, J., Sherman, S., Neri, G.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 605 KB

english, 1996

22

Fragile X founder chromosomes in Italy: A few initial events and possible explanation for their heterogeneity

Chiurazzi, P., Genuardi, M., Kozak, L., Giovannucci-Uzielli, M. L., Bussani, C., Dagna-Bricarelli, F., Grasso, M., Perroni, L., Sebastio, G., Sperandeo, M. P., Oostra, B. A., Neri, G.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 789 KB

english, 1996

23

X chromosome inactivation and X-linked mental retardation

Willard, Huntington F.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 755 KB

english, 1996

24

Extended gene diversity at the FMR1 locus and neighbouring CA repeats in a sub-Saharan population

Chiurazzi, P., Destro-Bisol, G., Genuardi, M., Oostra, B. A., Spedini, G., Neri, G.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 452 KB

english, 1996

25

Genetic variation and evolutionary stability of the FMR1 CGG repeat in six closed human populations

Eichler, Evan E., Nelson, David L.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 669 KB

english, 1996

26

Fragile X founder effects and new mutations in Finland

Zhong, Nan, Kajanoja, Eliisa, Smits, Bram, Pietrofesa, James, Curley, Dennis, Wang, Dauwen, Ju, Weina, Nolin, Sally, Dobkin, Carl, Ryynänen, Markku, Brown, W. Ted

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 773 KB

english, 1996

27

Evidence for high-risk haplotypes and (CGG)n expansion in fragile X syndrome in the Hellenic population of Greece and Cyprus

Syrrou, Maria, Patsalis, Philippos C., Georgiou, Ioannis, Hadjimarcou, Michael I., Constantinou-Deltas, C. D., Pagoulatos, Gerassimos

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 429 KB

english, 1996

28

An assay for X inactivation based on differential methylation at the fragile X locus,FMR1

Carrel, Laura, Willard, Huntington F.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 453 KB

english, 1996

29

Inheritance of skewed X chromosome inactivation in a large family with an X-linked recessive deafness syndrome

Ørstavik, Karen Helene, Elise Ørstavik, Ragnhild, Eiklid, Kristin, Tranebjærg, Lisbeth

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 412 KB

english, 1996

30

Familial X-linked mental retardation and isolated growth hormone deficiency: Clinical and molecular findings

Hamel, Ben C. J., Smits, Arie P. T., Otten, Barto J., van den Helm, Bellinda, Ropers, Hans-Hilger, Mariman, Edwin C. M.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 646 KB

english, 1996

31

New X-linked mental retardation syndrome with the gene mapped tentatively in Xp22.3

Wittwer, Bärbel, Kircheisen, Renate, Leutelt, Jutta, Orth, Ulrike, Gal, Andreas

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 711 KB

english, 1996

32

X-linked mental retardation with thin habitus, osteoporosis, and kyphoscoliosis: Linkage to Xp21.3-p22.12

Arena, J. Fernando, Schwartz, Charles, Ouzts, Lisbeth, Stevenson, Roger, Miller, Marvin, Garza, Judith, Nance, Martha, Lubs, Herbert

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 848 KB

english, 1996

33

X-linked mental retardation syndrome: Three brothers with the Brooks-Wisniewski-Brown syndrome

Morava, Éva, Storcz, Judit, Kosztolányi, György

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 347 KB

english, 1996

34

Refinement of the background genetic map of Xq26-q27 and gene localisation for Börjeson-Forssman-Lehmann syndrome

Gedeon, A. K., Kozman, H. M., Robinson, H., Pilia, G., Schlessinger, D., Turner, G., Mulley, J. C.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 652 KB

english, 1996

35

X-linked neurodegenerative syndrome with congenital ataxia, late-onset progressive myoclonic encephalopathy and selective macular degeneration, linked to Xp22.33-pter

des Portes, V., Bachner, L., Brüls, T., Beldjord, C., Billuart, P., Soufir, N., Bienvenu, Th., Vinet, M. C., Malaspina, E., Marchiani, V., Bertini, E., Kahn, A., Franzoni, E., Chelly, J.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 373 KB

english, 1996

36

The clinical spectrum of mutations in L1, a neuronal cell adhesion molecule

Fransen, Erik, Vits, Lieve, Camp, Guy Van, Willems, Patrick J.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 447 KB

english, 1996

37

Letter to the editor: Gene localisation for Sutherland-Haan syndrome (SHS:MIM 309470)

Gedeon, Agi, Mulley, John, Haan, Eric

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 170 KB

english, 1996

38

Letter to the editor: Gene localisation for Wilson-Turner syndrome (WTS:MIM 309585)

Gedeon, Agi, Mulley, John, Turner, Gillian

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 123 KB

english, 1996

39

Letter to the editor: Refined localization of the Prieto-Syndrome locus

Martínez, F., Prieto, F., Gal, A.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 103 KB

english, 1996

40

Regional localization of an X-linked mental retardation gene to Xp21.1-Xp22.13 (MRX38)

Schutz, Christopher K., Ives, Elizabeth J., Chalifoux, Maryse, MacLaren, Linda, Farrell, Sandra, Robinson, Paula D., White, Bradley N., Holden, Jeanette J. A.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 694 KB

english, 1996

41

X-linked mental retardation with neonatal hypotonia in a French family (MRX15): Gene assignment to Xp11.22-Xp21.1

Raynaud, Martine, Gendrot, Chantal, Dessay, Benoit, Moncla, Anne, Ayrault, Anne-Dominique, Moizard, Marie-Pierre, Toutain, Annick, Briault, Sylvain, Villard, Laurent, Ronce, Nathalie, Moraine, Claude

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 860 KB

english, 1996