Volume 90; Issue 1

American Journal of Medical Genetics

Volume 90; Issue 1

1

The days of our age: TheAmerican Journal of Medical Genetics in the next millenium

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 64 KB

english, 2000

2

Role of amniotic fluid homocysteine level and of fetal 5,10-methylenetetrahydrafolate reductase genotype in the etiology of neural tube defects

Wenstrom, Katharine D., Johanning, Gary L., Owen, John, Johnston, Kelley E., Acton, Shannon, Tamura, T.

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 105 KB

english, 2000

3

Nonsyndromic cleft lip and palate is not associated with cancer or other birth defects

Steinwachs, Ellen F., Amos, Chris, Johnston, Dennis, Mulliken, John, Stal, Samuel, Hecht, Jacqueline T.

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 80 KB

english, 2000

4

SRY gene transferred to the long arm of the X chromosome in a Y-positive XX true hermaphrodite

Margarit, Ester, Coll, M. Dolors, Oliva, Rafael, G�mez, David, Soler, Anna, Ballesta, Francisca

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 1.43 MB

english, 2000

5

Variation in microdeletions of the cyclic AMP-responsive element-binding protein gene at chromosome band 16p13.3 in the Rubinstein-Taybi syndrome

Blough, Ruthann I., Petrij, Fred, Dauwerse, Johannes G., Milatovich-Cherry, Athena, Weiss, Lester, Saal, Howard M., Rubinstein, Jack H.

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 355 KB

english, 2000

6

FISH analysis in detecting 9p duplication (p22p24)

Franchi, P. Guanciali, Calabrese, G., Morizio, E., Modestini, E., Stuppia, L., Mingarelli, R., Palka, G.

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 385 KB

english, 2000

7

Pendred syndrome: Phenotypic variability in two families carrying the samePDS missense mutation

Masmoudi, Saber, Charfedine, Ilhem, Hmani, Mounira, Grati, M'hamed, Ghorbel, Abdel Monem, Elgaied-Boulila, Amel, Drira, Mohamed, Hardelin, Jean-Pierre, Ayadi, Hammadi

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 491 KB

english, 2000

8

Truncus arteriosus and other lethal internal anomalies in Goltz syndrome

Han, Xiang Y., Wu, Sandy S., Conway, Daniel H., Pawel, Bruce R., Punnett, Hope H., Martin, Rick A., de Chadarevian, Jean-Pierre

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 222 KB

english, 2000

9

Impact of genetic testing for Huntington disease on the family system

Sobel, Susan K., Cowan, D. Brookes

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 97 KB

english, 2000

10

Amniotic fluid homocysteine levels, 5,10-methylenetetrahydrafolate reductase genotypes, and neural tube closure sites

Wenstrom, Katharine D., Johanning, Gary L., Owen, John, Johnston, Kelley E., Acton, Shannon, Cliver, Susan, Tamura, Tsunenobu

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 87 KB

english, 2000

11

Outcome of the routine assessment of patients with mental retardation in a genetics clinic

Hunter, Alasdair G.W.

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 84 KB

english, 2000

12

Candidate gene analysis in Rett syndrome and the identification of 21 SNPs in Xq

Amir, Ruthie, Dahle, E. Jill Roth, Toriolo, Daniela, Zoghbi, Huda Y.

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 47 KB

english, 2000

13

Compound heterozygosity for a disease-causing G1489D and disease-modifying G530S substitution inCOL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: An explanation of intrafamilial variability?

Giunta, Cecilia, Steinmann, Beat

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 410 KB

english, 2000

14

Situs inversus and Hirschsprung disease: Two uncommon manifestations in Bardet-Biedl syndrome

Lorda-Sanchez, Isabel, Ayuso, Carmen, Iba�ez, Angeles

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 32 KB

english, 2000

15

Epidemiology and genetics of craniosynostosis

Wilkie, Andrew O.M.

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 43 KB

english, 2000

16

Reply to letter to the editor by Wilkie??Epidemiology and genetics of craniosynostosis?

Bower, Carol, Singer, Steven, Southall, Peter, Goldblatt, Jack

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 23 KB

english, 2000

17

Young-Simpson syndrome comprising transient hypothyroidism, normal growth, macular degeneration and torticolis

Kondoh, Tatsuro, Kinoshita, Eiichi, Moriuchi, Hiroyuki, Niikawa, Norio, Matsumoto, Tadasi, Masuno, Mitsuo

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 89 KB

english, 2000

18

Trisomy 13 with bilateral hand oligodactyly

Kuschel, Bettina, Gillessen-Kaesbach, Gabriele

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 135 KB

english, 2000