Volume 87; Issue 2

American Journal of Medical Genetics

Volume 87; Issue 2

1

Caudal dysgenesis in staged human embryos: Carnegie stages 16-23

Padmanabhan, Rengasamy, Naruse, Ichiro, Shiota, Kohei

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 1.57 MB

english, 1999

2

Filippi syndrome: Report of three additional cases

Williams, Marc S., Williams, Janet L., Wargowski, David S., Pauli, Richard M., Pletcher, Beth A.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 493 KB

english, 1999

3

Skin elastic fibers in Williams syndrome

Dridi, S.M., Ghomrasseni, S., Bonnet, D., Aggoun, Y., Vabres, P., Bodemer, C., Lyonnet, S., de Prost, Y., Fraitag, S., Pellat, B., Sidi, D., Godeau, G.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 418 KB

english, 1999

4

Rare interstitial deletion (2)(p11.2p13) in a child with pericentric inversion (2)(p11.2q13) of paternal origin

Lacbawan, Felicitas L., White, Beverly J., Anguiano, Arturo, Rigdon, David T., Ball, Karen D., Bromage, Gail B., Yang, Xiaojing, DiFazio, Marc P., Levin, Sondra W.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 142 KB

english, 1999

5

Apparent lability of neural tube closure in laboratory animals and humans

DeSesso, John M., Scialli, Anthony R., Holson, Joseph F.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 1.02 MB

english, 1999

6

Two distinct phenotypes caused by two different missense mutations in the same codon of the VHL gene

Bradley, John F., Collins, Debra L., Schimke, R. Neil, Parrott, Heather N., Rothberg, Paul G.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 248 KB

english, 1999

7

Clinical and genetic study of Friedreich ataxia in an Australian population

Delatycki, Martin B., Paris, Damien B.B.P., Gardner, R.J. McKinlay, Nicholson, Garth A., Nassif, Najah, Storey, Elsdon, MacMillan, John C., Collins, Veronica, Williamson, Robert, Forrest, Susan M.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 90 KB

english, 1999

8

Familial patent ductus arteriosus and bicuspid aortic valve with hand anomalies: A novel heart-hand syndrome

Gelb, Bruce D., Zhang, Jian, Sommer, Robert J., Wasserman, Jared M., Reitman, Milton J., Willner, Judith P.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 124 KB

english, 1999

9

Association of microphthalmia with esophageal atresia: Report of two new patients and review of the literature

Imaizumi, Kiyoshi, Ishii, Takuma, Kimura, Junko, Masuno, Mitsuo, Kuroki, Yoshikazu

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 112 KB

english, 1999

10

Postnatal structure of the sella turcica in Down syndrome

Russell, Bj�rn G., Kj�r, Inger

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 429 KB

english, 1999

11

Submicroscopic Xpter deletion in a boy with growth and mental retardation caused by a familial t(X;14)

de Vries, Bert B.A., Eussen, Bert H.J., van Diggelen, Otto P., van der Heide, Annet, Deelen, Wouter H., Govaerts, Lutgarde C.P., Lindhout, Dick, Wouters, Cokkie H., Van Hemel, Jan O.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 1.73 MB

english, 1999

12

Inlet ventricular septal defect is not a partial atrioventricular septal defect

Marino, Bruno, Digilio, Maria Cristina

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 26 KB

english, 1999

13

Reply to the letter to the editor by Marino and Digilio??Inlet ventricular septal defect is not a partial atrioventricular septal defect?

Saker, Denise M., Freeman, Sallie

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 22 KB

english, 1999

14

Role of the C677T polymorphism at theMTHFR gene on risk to nonsyndromic cleft lip with/without cleft palate: Results from a case-control study in Brazil

Gaspar, D. A., Pavanello, R. C., Zatz, M., Passos-Bueno, M. R., Andr�, M., Steman, S., Wyszynski, D. F., Matiolli, S. R.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 51 KB

english, 1999

15

Erratum: Golden WL, Sudduth KW, Burnett SH, Kelly TH. Mosaicism in Praeder-Willi syndrome: detection using fluorescent in situ hybridization. Am J Med Genet 85:424-425

Gaspar, D. A., Pavanello, R. C., Zatz, M., Passos-Bueno, M. R., Andr�, M., Steman, S., Wyszynski, D. F., Matiolli, S. R.

Journal:

American Journal of Medical Genetics

Year:

1999

File:

PDF, 17 KB

1999

16

Polytopic anomalies with agenesis of the lower vertebral column

Bohring, Axel, Lewin, Susan O., Reynolds, James F., Voigtl�nder, Theda, Rittinger, Olaf, Carey, John C., K�pernik, Michael, Smith, Rosemarie, Zackai, Elaine H., Leonard, Norma J., Gritter, Hilda L., B

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 824 KB

english, 1999

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