Volume 82; Issue 3

American Journal of Medical Genetics

Volume 82; Issue 3

1

Craniosynostosis associated with ectopia lentis in monozygotic twin sisters

Cruysberg, Johan R.M., van Ravenswaaij-Arts, Conny M.A., Pinckers, Alfred, Roddi, Roberto, Brunner, Han G.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 450 KB

english, 1999

2

Parental attitudes regarding carrier testing in children at risk for fragile X syndrome

McConkie-Rosell, Allyn, Spiridigliozzi, Gail A., Rounds, Kathleen, Dawson, Deborah V., Sullivan, Jennifer A., Burgess, Deby, Lachiewicz, Ave M.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 65 KB

english, 1999

3

Noonan syndrome and cavernous hemangioma of the brain

Tanaka, Yukichi, Masuno, Mitsuo, Iwamoto, Hiroko, Aida, Noriko, Ijiri, Rieko, Yamanaka, Shoji, Imaizumi, Kiyoshi, Kuroki, Yoshikazu

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 141 KB

english, 1999

4

Uniparental isodisomy resulting from 46,XX,i(1p),i(1q) in a woman with short stature, ptosis, micro/retrognathia, myopathy, deafness, and sterility

Chen, Harold, Young, Rhonda, Mu, Xinjie, Nandi, Kailas, Miao, Shelley, Prouty, Leonard, Ursin, Suzonne, Gonzalez, Jorge, Yanamandra, Krishna

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 142 KB

english, 1999

5

Thumb/hallux duplication and preaxial polydactyly type I

Orioli, I�da M., Castilla, Eduardo E.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 73 KB

english, 1999

6

Homozygous alpha-thalassemia associated with hypospadias in three survivors

Fung, Tak Yuen, Kin, Lau Tze, Kong, Li Chi, Keung, Li Chi

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 50 KB

english, 1999

7

Familial aggregation in Rett syndrome: What is the evidence for clustering of other disorders in the families of affected girls?

Leonard, Helen, Fyfe, Susan, Dye, Danielle, Leonard, Seonaid

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 71 KB

english, 1999

8

Mild association between the A/G polymorphism in the promoter of the apolipoprotein A-I gene and apolipoprotein A-I levels: A meta-analysis

Juo, Suh-Hang Hank, Wyszynski, Diego F., Beaty, Terri H., Huang, Han-Yao, Bailey-Wilson, Joan E.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 124 KB

english, 1999

9

Lethal neonatal Hutchinson-Gilford progeria syndrome

Rodr�guez, Jos� I., P�rez-Alonso, Pablo, Funes, Rosa, P�rez-Rodr�guez, Jes�s

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 636 KB

english, 1999

10

Relatively longer hand in patients with Ullrich-Turner syndrome

Uematsu, Ayumi, Yorifuji, Tohru, Muroi, Junko, Yamanaka, Chutaro, Momoi, Toru

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 111 KB

english, 1999

11

Nephrotic syndrome, microcephaly, and developmental delay: Three separate syndromes

Meyers, Kevin E.C., Kaplan, Paige, Kaplan, Bernard S.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 95 KB

english, 1999

12

De novo partial duplications 1p: Report of two new cases and review

Garcia-Heras, Jaime, Corley, Norlela, Garcia, Mary F., Kukolich, Mary K., Smith, Kim G., Day, Donald W.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 86 KB

english, 1999

13

Abnormal phenotypes in uniparental disomy (UPD): Fundamental aspects and a critical review with bibliography of UPD other than 15

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 106 KB

english, 1999

14

Investigation of two cases of paternal disomy 13 suggests timing of isochromosome formation and mechanisms leading to uniparental disomy

Berend, Sue Ann, Feldman, Gerald L., McCaskill, Christopher, Czarnecki, Paula, Van Dyke, Daniel L., Shaffer, Lisa G.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 213 KB

english, 1999

15

On the nosology of severe acrofacial dysostosis with limb deficiency

Fryns, Jean-Pierre

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 23 KB

english, 1999

16

Reply to letter to the editor of Jean-Pierre Fryns ? ?on the nosology of severe acrofacial dysostosis with limb deficiency?

Oostra, Roelof Jan, Baljet, Bob, Hennekam, Raoul C.M.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 25 KB

english, 1999

17

Terminal deletion, del(1)(p36.3), detected through screening for terminal deletions in patients with unclassified malformation syndromes

Mariluce Riegel, Claudio Castellan, Damina Balmer, Lukrecija Brecevic, Albert Schinzel

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 988 KB

english, 1999

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