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Volume 72; Issue 3

American Journal of Medical Genetics

Volume 72; Issue 3

1

Multiple malformation syndrome following fluconazole use in pregnancy: Report of an additional patient

Aleck, Kyrieckos A., Bartley, Douglas L.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 145 KB

english, 1997

2

Xq28-linked noncompaction of the left ventricular myocardium: Prenatal diagnosis and pathologic analysis of affected individuals

Bleyl, Steven B., Mumford, Brian R., Brown-Harrison, Mary-Carole, Pagotto, Luciana T., Carey, John C., Pysher, Theodore J., Ward, Kenneth, Chin, Thomas K.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 410 KB

english, 1997

3

Craniofacial structure in diastrophic dysplasia—a cephalometric study

Karlstedt, Eva, Kaitila, Ilkka, Pirinen, Sinikka

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 188 KB

english, 1997

4

Discriminant analysis of the Ullrich-Turner syndrome neurocognitive profile

Ross, Judith L., Kushner, Harvey, Zinn, Andrew R.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 87 KB

english, 1997

5

Ring chromosome 4 mosaicism coincidence of oligomeganephronia and signs of Seckel syndrome

Anderson, Carol E., Wallerstein, Robert, Zamerowski, Suzanne T., Witzleben, Camilus, Hoyer, John R., Gibas, Longina, Jackson, Laird G.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 352 KB

english, 1997

6

Glycogen storage disease type 1a in Israel: Biochemical, clinical, and mutational studies

Parvari, Ruti, Lei, Ke-Jian, Bashan, Nava, Hershkovitz, Eli, Korman, Stanley H., Barash, Varda, Lerman-Sagie, Tali, Mandel, Hannah, Chou, Janice Yang, Moses, Shimon W.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 143 KB

english, 1997

7

Neurosonographic diagnosis of thalamic/basal ganglia vasculopathy in trisomy 13—an important diagnostic aid

Chabra, Shilpi, Kriss, Vesna Martich, Pauly, Thomas H., Hall, Bryan D.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 103 KB

english, 1997

8

Familial occurrence of pulmonary atresia with intact ventricular septum

Grossfeld, Paul D., Lucas, Victor W., Sklansky, Mark S., Kashani, Iraj A., Rothman, Abraham

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 113 KB

english, 1997

9

Cytogenetic analysis of spontaneous abortions: Comparison of techniques and assessment of the incidence of confined placental mosaicism

Griffin, Darren K., Millie, Elise A., Redline, Raymond W., Hassold, Terry J., Zaragoza, Michael V.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 37 KB

english, 1997

10

Prenatal diagnosis of congenital adrenal hyperplasia (21-hydroxylase deficiency) in Croatia

Dumic, M., Brkljacic, L., Plavsic, V., Zunec, R., Ille, J., Wilson, R. C., Kuvacic, I., Kastelan, A., New, M. I.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 120 KB

english, 1997

11

Tetraphocomelia and bilateral cleft lip in a historical case of Roberts syndrome [Virchow, 1898]

Urban, Maik, Rogalla, Patrik, Tinschert, Sigrid, Krietsch, Peter

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 459 KB

english, 1997

12

Bilateral femoral agenesis in femoral facial syndrome in a 19-week-old fetus

Campbell, Fiona, Vujanić, Gordan M.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 137 KB

english, 1997

13

Ring chromosome 13 with loss of the region D13S317-D13S285: Phenotypic overlap with XK syndrome

Guala, Andrea, Dellavecchia, Claudia, Mannarino, Savina, Rognone, Felice, Giglio, Sabrina, Minelli, Antonella, Danesino, Cesare

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 344 KB

english, 1997

14

Gene for nonspecific X-linked mental retardation (MRX 47) is located in Xq22.3-q24

des Portes, Vincent, Soufir, Nadem, Carrié, Alain, Billuart, Pierre, Bienvenu, Thierry, Vinet, Marie Claude, Beldjord, Cherif, Ponsot, Gérard, Kahn, Axel, Boué, Joelle, Chelly, Jamel

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 84 KB

english, 1997

15

Multiple congenital anomalies, brain hypomyelination, and ocular albinism in a female with dup(X)(pter→q24::q21.32→qter) and random X inactivation

Carrozzo, Romeo, Arrigo, Giulia, Rossi, Elena, Bardoni, Barbara, Cammarata, Marina, Gandullia, Paolo, Gatti, Rosanna, Zuffardi, Orsetta

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 277 KB

english, 1997

16

Familial transmission of a small supernumerary marker chromosome 8 identified by FISH: An update

Rothenmund, H., Chudley, A. E., Dawson, A. J.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 65 KB

english, 1997

17

Validation of radiographic criteria for the diagnosis of Down syndrome in stillborn infants

Dasgupta, Noel R., Pauli, Richard M., Horton, V. Kim, Reiser, Catherine A.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 147 KB

english, 1997

18

Direct karyotyping of unstimulated newborn blood: A rapid diagnostic method for the clinical management of critically ill newborns

Tharapel, Sugandhi A., Dev, Vaithilingam G.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 25 KB

english, 1997

19

Genomic structure, sequence, and mapping of humanFGF8 with no evidence for its role in craniosynostosis/limb defect syndromes

Yoshiura, Koh-ichiro, Leysens, Nancy J., Chang, Jenny, Ward, Deeann, Murray, Jeffrey C., Muenke, Maximilian

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 453 KB

english, 1997

20

Limb girdle muscular dystrophy in Manitoba Hutterites does not map to any of the known LGMD loci

Weiler, Tracey, Greenberg, Cheryl R., Nylen, Edward, Morgan, Kenneth, Fujiwara, T. Mary, Crumley, M. Joyce, Zelinski, Teresa, Halliday, William, Nickel, Barbara, Triggs-Raine, Barbara, Wrogemann, Klau

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 154 KB

english, 1997

21

Another case of the autosomal recessive Weaver-like syndrome

Slaney, Sarah F., Winter, Robin M.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 77 KB

english, 1997

22

Heterogeneity of X-linked ichthyosis

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 9 KB

english, 1997

23

Conductive hearing loss in the tricho-rhino-phalangeal syndrome (TRP II) or in the Langer-Giedion syndrome

Vantrappen, Greet, Feenstra, Louw, Frijns, Jean-Pierre

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 91 KB

english, 1997

24

Supra- and infraumbilical raphe with pectus excavatum

Aköz, Tayfun, Erdogan, Bülent, Görgü, Metin, Kapucu, M. Ruşen, Erdogan, Aysun

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 110 KB

english, 1997

25

SOX3 gene maps near DXS984 in Xq27.1, within candidate regions for several X-linked disorders

Mumm, Steven, Zucchi, Ileana, Pilia, Giuseppe

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 53 KB

english, 1997

26

Heritability of dermatoglyphic a-b ridge count asymmetry

Bogle, Ann C., Reed, Terry

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 18 KB

english, 1997

27

Human chromosomes principles and techniques: Second edition

Park, Jonathan P.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 16 KB

english, 1997