Volume 86; Issue 3

American Journal of Medical Genetics

Volume 86; Issue 3

1

Should syndromes be defined phenotypically or molecularly? Resolution of the dilemma

Cohen, M. Michael, MacLean, Ruth E.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 48 KB

english, 1999

2

Increased nuchal translucency in trisomy 13 fetuses at 10-14 weeks of gestation

Snijders, Rosalinde J.M., Sebire, Neil J., Nayar, Roshini, Souka, Athena, Nicolaides, Kypros H.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 62 KB

english, 1999

3

The Camera-Marugo-Cohen syndrome: Report of two new patients

Lambert, Deborah M., Watters, Gordon, Andermann, Frederick, Der Kaloustian, Vazken M.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 780 KB

english, 1999

4

Microcephaly-lymphedema-chorioretinal dysplasia: A unique genetic syndrome with variable expression and possible characteristic facial appearance

Limwongse, Chanin, Wyszynski, Richard E., Dickerman, Lois H., Robin, Nathaniel H.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 191 KB

english, 1999

5

Impact on maternal parenting stress of receipt of genetic information regarding risk of diabetes in newborn infants

Yu, Mi Suk, Norris, Jill M., Mitchell, Christina M., Butler-Simon, Nancy, Groshek, Mark, Follansbee, Donna, Erlich, Henry, Rewers, Marian, Klingensmith, Georgeanna J.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 82 KB

english, 1999

6

Molecular cytogenetics of a de novo interstitial deletion of chromosome arm 6q in a developmentally normal girl

Kumar, Arun, Cassidy, Suzanne B., Romero, Lynne, Schwartz, Stuart

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 1.46 MB

english, 1999

7

Association of a variant of the angiotensinogen gene with pure type of hypertension in pregnancy in the Japanese: Implication of a racial difference and significance of an age factor

Kobashi, Gen, Hata, Akira, Shido, Koichi, Kato, Emi-Hirayama, Yamada, Hideto, Fujimoto, Seiichiro, Kishi, Reiko, Kondo, Kiyotaro

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 64 KB

english, 1999

8

Apparent cyclophosphamide (cytoxan) embryopathy: A distinct phenotype?

Enns, Gregory M., Roeder, Elizabeth, Chan, Ruth T., Ali-Khan Catts, Zohra, Cox, Victoria A., Golabi, Mahin

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 208 KB

english, 1999

9

Maternal corticosteroid use and risk of selected congenital anomalies

Carmichael, Suzan L., Shaw, Gary M.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 44 KB

english, 1999

10

Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): Presentation in two unrelated patients in the United States

Smith, Wendy, Ji, Hanlee P., Mouradian, Wendy, Pagon, Roberta A.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 620 KB

english, 1999

11

Glycogen storage disease type Ib: Structural and mutational analysis of the microsomal glucose-6-phosphate transporter gene

Hou, Dian-Chang, Kure, Shigeo, Suzuki, Yoichi, Hasegawa, Yukihiro, Hara, Yoji, Inoue, Takehiko, Kida, Yoshikazu, Matsubara, Yoichi, Narisawa, Kuniaki

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 216 KB

english, 1999

12

Variability in a family with an insertion involving 5p

Marinescu, R. Catrinel, Mamunes, Peter, Kline, Antonie D., Schmidt, Jennifer, Rojas, Katherine, Overhauser, Joan

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 600 KB

english, 1999

13

Characterization of a complex chromosomal rearrangement in a patient with a typical catlike cry and no other clinical findings of cri-du-chat syndrome

Sreekantaiah, C., Kronn, D., Marinescu, R.C., Goldin, B., Overhauser, J.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 231 KB

english, 1999

14

Discordance of oral-facial-digital syndrome type 1 in monozygotic twin girls

Shotelersuk, Vorasuk, Tifft, Cynthia J., Vacha, Scott, Peters, Kathryn F., Biesecker, Leslie G.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 589 KB

english, 1999

15

Osteosclerosis, hypoplastic nose, and proptosis (Raine syndrome): Further delineation

Shalev, Stavit A., Shalev, Eliezer, Reich, Dan, Borochowitz, Zvi U.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 255 KB

english, 1999

16

Oral-facial-digital syndrome with Y-shaped fourth metacarpals and endocardial cushion defect

Hsieh, Yu-Chia, Hou, Jia-Woei

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 171 KB

english, 1999

17

Lower lip pits and anorectal anomalies in Kabuki syndrome

Kokitsu-Nakata, Nancy Mizue, Vendramini, Siulan, Guion-Almeida, Maria Leine

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 225 KB

english, 1999

18

Kabuki make-up syndrome is not caused by microdeletion close to the van der Woude syndrome critical region at 1q32-q41

Makita, Yoshio, Yamada, Koki, Miyamoto, Akie, Okuno, Akimasa, Niikawa, Norio

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 146 KB

english, 1999

19

Interstitial deletion of chromosome 5 in a neonate due to maternal insertion, ins(8;5)(p23;q33q35)

Gibbons, Barbara, Tan, Siew Yee, Kee, Su Keyau, Quaife, Roger, Lim, Seh Teen

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 1.55 MB

english, 1999

20

Two sibs with Malpuech syndrome

Crisponi, Giangiorgio, Marras, Andrea Raffaele, Corrias, Adriano

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 554 KB

english, 1999

21

Mutations in the fibroblast growth factor receptor 3 (FGFR3) cause achondroplasia, hypochondroplasia, and thanatophoric dysplasia: Taiwanese data

Tsai, Fuu-Jen, Tsai, Chang-Hai, Chang, Jan-Gowth, Wu, Jer-Yuarn

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 88 KB

english, 1999

22

Candidate gene involved in genital ontogeny in chromosome region 16p13.3

Dame, Christof, Albers, Norbert, Bartmann, Peter

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 106 KB

english, 1999

23

Erratum: Patsalis, PC. FMR1 repeat analysis in patients with ovarian dysfunction or failure. Am J Med Genet 83:329-330

Dame, Christof, Albers, Norbert, Bartmann, Peter

Journal:

American Journal of Medical Genetics

Year:

1999

File:

PDF, 17 KB

1999

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