Volume 87; Issue 4

American Journal of Medical Genetics

Volume 87; Issue 4

1

Two sibs with myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders

M�garban�, A., Khalil, G., Waked, N., R�tig, A., Caillaud, C., Loiselet, J.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 550 KB

english, 1999

2

Unusual phenotype in partial trisomy 14

Lemire, Edmond G., Cardwell, Sharon

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 151 KB

english, 1999

3

Trisomy 2q35-q37 due to insertion of 2q material into 17q25: Clinical, cytogenetic, and molecular cytogenetic characterization

Fritz, Barbara, M�ller-Navia, Jutta, Hillig, Ulrike, K�hler, Martin, Aslan, M�cevher, Rehder, Helga

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 1.15 MB

english, 1999

4

De novo dup(X)(q22.1q25) in a girl with an abnormal phenotype

Tihy, Fr�d�rique, Lemyre, Emmanuelle, Lemieux, Nicole, Dallaire, Louis

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 136 KB

english, 1999

5

Digynic triploid infant surviving for 46 days

Hasegawa, Tomonobu, Harada, Naoki, Ikeda, Kazushige, Ishii, Tomohiro, Hokuto, Isamu, Kasai, Kenji, Tanaka, Mamoru, Fukuzawa, Ryuji, Niikawa, Norio, Matsuo, Nobutake

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 267 KB

english, 1999

6

Novel twelve-generation kindred of fatal familial insomnia from Germany representing the entire spectrum of disease expression

Harder, Anja, Jendroska, Klaus, Kreuz, Friedmar, Wirth, Torsten, Schafranka, Constanze, Karnatz, Nadja, Th�allier-Janko, Aguta, Dreier, Jens, Lohan, Karsten, Emmerich, Dirk, Cerv�s-Navarro, Jorge, Win

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 162 KB

english, 1999

7

Neurofibromatosis type 1 growth charts

Clementi, M., Milani, S., Mammi, I., Boni, S., Monciotti, C., Tenconi, R.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 324 KB

english, 1999

8

Jeune syndrome and liver disease: Report of three cases treated with ursodeoxycholic acid

Labrune, Philippe, Fabre, Monique, Trioche, Pascale, Estournet-Mathiaud, Brigitte, Grangeponte, Marie-Claire, Rambaud, Caroline, Maurage, Chantal, Bernard, Olivier

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 759 KB

english, 1999

9

Hemophagocytic lymphohistiocytosis in a patient with deletion of 22q11.2

Aric�, Maurizio, Bettinelli, Alberto, Maccario, Rita, Clementi, Rita, Bossi, Grazia, Danesino, Cesare

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 76 KB

english, 1999

10

Detection of pericentric inversion of X chromosome in a male fetus

Wenger, Sharon L., Cutenese, Cindy, Brancazio, Leo R.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 76 KB

english, 1999

11

Hemizygosity for the COP9 signalosome subunit gene,SGN3, in the Smith-Magenis syndrome

Elsea, Sarah H., Mykytyn, Kirk, Ferrell, Katherine, Coulter, Kathryn L., Das, Parimal, Dubiel, Wolfgang, Patel, Pragna I., Metherall, James E.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 407 KB

english, 1999

12

Autosomal XX sex reversal caused by duplication ofSOX9

Huang, Bing, Wang, Shengbiao, Ning, Yi, Lamb, Allen N., Bartley, James

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 417 KB

english, 1999

13

Clinical expression of Menkes disease in a girl with X;13 translocation

Abusaad, Iman, Mohammed, Shehla N., Ogilvie, Caroline Mackie, Ritchie, Jane, Pohl, Keith R.E., Docherty, Zoe

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 1013 KB

english, 1999

14

Craniomicromelic syndrome: Report of a third case

Baralle, Diana, Firth, Helen

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 103 KB

english, 1999

15

Extragonadal germ cell tumors in brothers

D'Silva, Stany A., Williamson, Stephan K., Schimke, R. Neil

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 32 KB

english, 1999

16

Double-blind, placebo-controlled study ofL-acetylcarnitine for the treatment of hyperactive behavior in fragile X syndrome

Torrioli, M.G., Vernacotola, S., Mariotti, P., Bianchi, E., Calvani, M., De Gaetano, A., Chiurazzi, P., Neri, G.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 74 KB

english, 1999

17

Genomic Imprinting, edited by Wolf Reik and Arim Surain

Kalousek, Dagmar

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 28 KB

english, 1999

18

Treatment of pyruvate carboxylase deficiency with high doses of citrate and aspartate

Ayesha Ahmad, Stephen G. Kahler, Priya S. Kishnani, Merce Artigas-Lopez, Anuradha S. Pappu, Robert Steiner, David S. Millington, Johan L.K. Van Hove

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 326 KB

english, 1999