Volume 69; Issue 4

American Journal of Medical Genetics

Volume 69; Issue 4

1

Walter Fuhrmann

Vogel, Friedrich

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 184 KB

english, 1997

2

Sibs with cleidocranial dysplasia born to normal parents: Germ line mosaicism?

Zackai, Elaine H., Robin, Nathaniel H., McDonald-McGinn, Donna M.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 171 KB

english, 1997

3

Supernumerary ring chromosome 17 identified by fluorescent in situ hybridization

Fagan, Kerry, Edwards, Matthew

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 290 KB

english, 1997

4

Idiopathic thrombocytopenic purpura in two mothers of children with DiGeorge sequence: A new component manifestation of deletion 22q11?

Lévy, A., Michel, G., Lemerrer, M., Philip, N.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 165 KB

english, 1997

5

Constitutional mosaicism for a chromosome 9 inversion resulting in recombinant aneusomy in an offspring

Shapira, Stuart K., Orr-Urtreger, Avi, Gagos, Sarantis, Shaffer, Lisa G.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 277 KB

english, 1997

6

Mitochondrial anomalies in a Swiss family with autosomal dominant myoglobinuria

Martin-Du Pan, Rémy C., Morris, Michael A., Favre, Hervé, Junod, Alain, Pizzolato, Gian-Paolo, Bottani, Armand

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 260 KB

english, 1997

7

Coloboma, mental retardation, hypogonadism, and obesity: Critical review of the so-called Biemond syndrome type 2, updated nosology, and delineation of three “new” syndromes

Verloes, Alain, Temple, I. Karen, Bonnet, Sabine, Bottani, Armand

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 866 KB

english, 1997

8

Analysis of 16 cystic fibrosis mutations in Mexican patients

Villalobos-Torres, C., Rojas-Martínez, A., Villareal-Castellanos, E., Cantú, J. M., Sánchez-Anzaldo, F. J., Saiki, R. K., Barrera-Saldaña, H. A.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 142 KB

english, 1997

9

Telomeric fusion and chromosome instability in multiple tissues of a patient with mosaic Ullrich-Turner syndrome

Sawyer, Jeffrey R., Swanson, Charles M., Lukacs, Janet L., Hassed, Susan J., Curtis, Mary A., North, Paula E., Kozlowski, Karen J., Pihoker, Catherine

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 445 KB

english, 1997

10

Another “new” form, the Palagonia type of acrofacial dysostosis in Sicilian family

Sorge, Giovanni, Pavone, Lorenzo, Polizzi, Agata, Mauceri, Laura, Leonardi, Rosalia Maria, Tripi, Teresa, Opitz, John M.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 1.21 MB

english, 1997

11

Probable Opitz trigonocephaly C syndrome with medulloblastoma

Omran, Heymut, Hildebrandt, Friedhelm, Korinthenberg, Rudolf, Brandis, Matthias

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 515 KB

english, 1997

12

Deletion 4q21/4q22 syndrome: Two patients with de novo 4q21.3q23 and 4q13.2q23 deletions

Nowaczyk, M. J. M., Teshima, I. E., Siegel-Bartelt, J., Clarke, J. T. R.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 600 KB

english, 1997

13

Elejalde syndrome: A case report

Thornton, C. M., Stewart, F.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 436 KB

english, 1997

14

Single aberrant umbilical artery in a fetus with severe caudal defects: Sirenomelia or caudal dysgenesis

Perez-Aytes, Antonio, Montero, Luisa, Gomez, Jacinto, Paya, Artemio

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 462 KB

english, 1997

15

A patient with interstitial deletion of the short arm of chromosome 3 (pter→p21.2::p12→qter) and a CHARGE-like phenotype

Wieczorek, Dagmar, Bolt, Jan, Schwechheimer, Karl, Gillessen-Kaesbach, Gabriele

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 317 KB

english, 1997

16

Goldenhar complex: A further case with uncommon associated anomalies

Zelante, Leopoldo, Gasparini, Paolo, Scanderbeg, Alessandro Castriota, Dimitri, Lucia, Criconia, Marco, Gorlin, Robert J.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 666 KB

english, 1997

17

Risk perception after CF carrier testing and impact of the test result on reproductive decision making

Denayer, Lieve, Welkenhuysen, Myriam, Evers-Kiebooms, Gerry, Cassiman, Jean-Jacques, Van den Berghe, Herman

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 190 KB

english, 1997

18

Familial heterotaxia: what is the inheritance in this family?

Delatycki, Martin B., Sheffield, Leslie J.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 62 KB

english, 1997

19

Further case of Galloway-Mowat syndrome of abnormal gyral patterns and glomerulopathy

Kingo, Abbas R. M., Battin, Malcom, Solimano, Alfonso, Phang, Min, McGillivray, Barbara

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 83 KB

english, 1997

20

Anophthalmia-Waardenburg syndrome or Ophthalmo-Acromelic syndrome: What is in a name?

Quarrell, O. W. J.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 80 KB

english, 1997

21

Patterson-Stevenson-Fontaine syndrome: 30-year follow-up and clinical details of a further affected case

Wilkie, Andrew O. M., Goodacre, Timothy E. E.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 288 KB

english, 1997

22

Developmental Disabilities In Infancy and Childhood, 2nd Ed., vols. I, II. Arnold J. Capute and Pasquale J. Accardo, editors. Paul H. Brookes Publishing, Baltimore, MD, 1996, 1159pp, .

Wilson, Golder N.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 86 KB

english, 1997

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