Volume 92; Issue 4

American Journal of Medical Genetics

Volume 92; Issue 4

1

Physical characteristics of young boys with fragile X syndrome: Reasons for difficulties in making a diagnosis in young males

Lachiewicz, Ave M., Dawson, Deborah V., Spiridigliozzi, Gail A.

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 163 KB

english, 2000

2

Three novel TBX5 mutations in Chinese patients with Holt-Oram syndrome

Yang, Jinfu, Hu, Dongxu, Xia, Jiahui, Yang, Yifeng, Ying, Bangliang, Hu, Jianguo, Zhou, Xinmin

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 489 KB

english, 2000

3

Mutations in theMEFV gene in a large series of patients with a clinical diagnosis of familial Mediterranean fever

Dod�, C., P�cheux, C., Cazeneuve, C., Cattan, D., Dervichian, M., Goossens, M., Delpech, M., Amselem, S., Grateau, G.

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 324 KB

english, 2000

4

Familial Mediterranean fever in two Bedouin families: Mutation analysis and disease severity

Press, Joseph, Shinar, Yael, Langevitz, Pnina, Livneh, Avi, Pras, Mordehai, Buskila, Dan

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 89 KB

english, 2000

5

Detection of a cryptic translocation in a family with mental retardation using FISH and telomere region-specific probes

Bacino, Carlos A., Kashork, Catherine D., Davino, Nelson A., Shaffer, Lisa G.

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 1.30 MB

english, 2000

6

Structural analysis of a rare rearranged Y chromosome and its bearing on genotype-phenotype correlation

Ogata, Tsutomu, Wakui, Keiko, Kosho, Tomoki, Muroya, Koji, Yamanouchi, Yasuko, Takano, Takako, Fukushima, Yoshimitsu, Rappold, Gudrun, Suzuki, Yoshimi

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 1006 KB

english, 2000

7

Maternal uniparental disomy (UPD) for chromosome 2 discovered by exclusion of paternity

Heide, Ellen, Heide, K.-G., Rodewald, Alexander

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 303 KB

english, 2000

8

Breakpoint within the nucleolus organizer region resulting in a reciprocal translocation t(4;14)(q21;p12)

Grabowski, Monika, Fauth, Christine, Wirtz, Antje, Speicher, Michael R.

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 2.67 MB

english, 2000

9

Frequent association of 22q11.2 deletion with tetralogy of Fallot

Maeda, Jun, Yamagishi, Hiroyuki, Matsuoka, Rumiko, Ishihara, Jun, Tokumura, Mitsuaki, Fukushima, Hiroyuki, Ueda, Hideaki, Takahashi, Etsuro, Yoshiba, Shigeki, Kojima, Yoshifumi

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 123 KB

english, 2000

10

New case of Cole-Carpenter syndrome

Amor, David J., Savarirayan, Ravi, Schneider, Adele S., Bankier, Agnes

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 272 KB

english, 2000

11

Colobomatous microphthalmia, microcephaly with cerebellar hypoplasia: Association or new syndrome?

Pavone, Piero, Parano, Enrico, Polizzi, Agata, Trifiletti, Rosario R.

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 181 KB

english, 2000

12

Comparative genomic hybridization: A new approach to screening for intrauterine complete or mosaic aneuploidy

Lestou, V.S., Desilets, V., Lomax, B.L., Barrett, I.J., Wilson, R.D., Langlois, S., Kalousek, D.K.

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 198 KB

english, 2000

13

Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3 - 8q22.1: Redefining a clinical entity

Horn, Denise, Krebsov�, Alice, Kunze, J�rgen, Reis, Andr�

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 339 KB

english, 2000

14

Population and molecular genetic update: the second Middle East Genetics Association of America (MEGA) conference

Teebi, Ahmad S., Shawky, Rabah M.

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 62 KB

english, 2000

15

Regarding trisomy 2p syndrome

Wellesley, Diana, Boyle, Tracy

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 42 KB

english, 2000

16

De novo partial duplication of long arm of chromosome 13: dup(13)(q12?q14)

Hermann, Robert, Solt�sz, G., Morava, E., Kosztol�nyi, G., Czak�, M.

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 72 KB

english, 2000

17

Human pedigree studies

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 45 KB

english, 2000

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