Volume 72; Issue 2

American Journal of Medical Genetics

Volume 72; Issue 2

1

Interstitial insertion of Y-specific DNA sequences including SRY into chromosome 4 in a 45,X male child

Yenamandra, Aswani, Deangelo, Patricia, Aviv, Hana, Suslak, Lorraine, Desposito, Franklin

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 142 KB

english, 1997

2

Vitamin K deficiency embryopathy: A phenocopy of the warfarin embryopathy due to a disorder of embryonic vitamin K metabolism

Menger, Hartmut, Lin, Angela E., Toriello, Helga V., Bernert, Günter, Spranger, Jürgen W.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 345 KB

english, 1997

3

Nosology of lysosomal glycogen storage diseases without in vitro acid maltase deficiency. Delineation of a neonatal form

Verloes, Alain, Massin, Martial, Lombet, Jacques, Grattagliano, Bettina, Soyeur, Daniel, Rigo, Jacques, Koulischer, Lucien, Van Hoof, François

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 256 KB

english, 1997

4

Introduction for Bazopoulou-Kyrkanidou's “What makes Hephaestus lame?”

Mayor, Adrienne

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 11 KB

english, 1997

5

What makes Hephaestus lame?

Bazopoulou-Kyrkanidou, Euterpe

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 712 KB

english, 1997

6

Hiatus/paraesophageal hernias in neonatal Marfan syndrome

Parida, Saroj K., Kriss, Vesna Martich, Hall, Bryan D.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 142 KB

english, 1997

7

Metacarpophalangeal pattern profile in Marfan syndrome and Marfan-like patients

de Oliveira Sobrinho, Ruy Pires, Moretti-Ferreira, Danilo, Contini, Andréia, Norato, Denise Yvonne Janovitz

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 43 KB

english, 1997

8

Psychological aspects of genetic counseling. XI. Nondirectiveness revisited

Kessler, Seymour

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 52 KB

english, 1997

9

Nondirectiveness in genetic counseling: A survey of practitioners

Bartels, Dianne M., LeRoy, Bonnie S., McCarthy, Patricia, Caplan, Arthur L.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 49 KB

english, 1997

10

Another critical region for deletion of 22q11: A study of 100 patients

Kurahashi, Hiroki, Tsuda, Etsuko, Kohama, Rikako, Nakayama, Takahiro, Masuno, Mitsuo, Imaizumi, Kiyoshi, Kamiya, Tetsuro, Sano, Tetsuya, Okada, Shintaro, Nishisho, Isamu

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 208 KB

english, 1997

11

F329L polymorphism in the human PAX8 gene

Torban, E., Pelletier, J., Goodyer, P.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 121 KB

english, 1997

12

Patellar dislocation in Rubinstein-Taybi syndrome

Stevens, Cathy A.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 82 KB

english, 1997

13

Association of professors of human or medical genetics: Second annual workshop summary

Friedman, J. M.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 42 KB

english, 1997

14

Analysis of the tricho-dento-osseous syndrome genotype and phenotype

Tim Wright, J., Kula, Katherine, Hall, Kathie, Simmons, Joey H., Hart, Thomas C.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 337 KB

english, 1997

15

CNS malformation in a child with Kabuki (Niikawa-Kuroki) syndrome: Report and review

Chu, Da-Chang, Finley, Sara C., Young, Daniel W., Proud, Virginia K.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 205 KB

english, 1997

16

Skeletal anomalies and deformities in patients with deletions of 22q11

Ming, Jeffrey E., McDonald-McGinn, Donna M., Megerian, Tanya E., Driscoll, Deborah A., Elias, Ellen Roy, Russell, Barbara M., Irons, Mira, Emanuel, Beverly S., Markowitz, Richard I., Zackai, Elaine H.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 361 KB

english, 1997

17

Pattern of malformations in the axial skeleton in human triploid fetuses

Kjær, Inger, Keeling, Jean W., Smith, Nicholas M., Hansen, Birgit Fischer

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 315 KB

english, 1997

18

Stüve-Wiedemann syndrome and defects of the mitochondrial respiratory chain

Chabrol, Brigitte, Sigaudy, Sabine, Paquis, Véronique, Montfort, Marie-France, Giudicelli, Hélène, Pellissier, Jean-François, Millet, Véronique, Mancini, Josette, Philip, Nicole

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 89 KB

english, 1997

19

Dominant coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate

Ravine, David, Ragge, Nicola K., Stephens, Dafydd, Oldridge, Michael, Wilkie, Andrew O. M.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 415 KB

english, 1997

20

Mitochondrial NP 3243 point mutation is not a common cause of VACTERL association

Stone, Deborah L., Biesecker, Leslie G.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 81 KB

english, 1997

21

Another case of maternal uniparental disomy chromosome 14 syndrome

Splitt, Miranda Penman, Goodship, Judith A.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 17 KB

english, 1997

22

False polymerase chain reaction-based diagnosis: Is it avoidable?

Berger, Johannes, Bernheimer, Hanno, Forss-Petter, Sonja

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 12 KB

english, 1997

23

Two new missense mutations (A105T and C110G) in the Norrin gene in two Italian families with Norrie disease and familial exudative vitreoretinopathy

Torrente, Isabella, Mangino, Massimo, Gennarelli, Massimo, Novelli, Giuseppe, Giannotti, Aldo, Vadalà, Pasquale, Dallapiccola, Bruno

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 59 KB

english, 1997

24

Is fragile X syndrome a risk factor for dizygotic twinning?

Healey, S. C., Duffy, D. L., Martin, N. G., Turner, G.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 23 KB

english, 1997

25

What's in a name? The 22q11.2 deletion

McDonald-McGinn, Donna M., Zackai, Elaine H., Low, David

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 27 KB

english, 1997

26

Reply to “What's in a name? The 22q11.2 deletion”

Wulfsberg, Eric A., Leana-Cox, Julie, Neri, Giovanni

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 18 KB

english, 1997

27

Chromosome abnormalities and genetic counseling

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 11 KB

english, 1997

28

Cole DEC, Janicic N, Salisbury SR, Hendy GN (1997): Neonatal severe hyperparathyroidism, secondary hyperparathyroidism, and familial hypocalciuric hypercalcemia: Multiple different phenotypes associated with an inactivatingAlu insertion mutation of the calcium-sensing receptor gene. Am J Med Genet 71:202-210.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 35 KB

english, 1997