Medical & Molecular Genetics

Publications

1984

Familial Startle Disease (Hyperexplexia): Electrophysiologic Studies

Markand, O. N., Garg, B. P. & Weaver, D. D., Jan 1984, In : Archives of Neurology. 41, 1, p. 71-74 4 p.

Research output: Contribution to journalArticle

40 Scopus citations

In utero brain destruction resulting in collapse of the fetal skull, microcephaly, scalp rugae, and neurologic impairment: The fetal brain disruption sequence

Russell, L. J., Weaver, D. D., Bull, M. J. & Weinbaum, M., Jan 1 1984, In : American Journal of Medical Genetics. 17, 2, p. 509-521 13 p.

Research output: Contribution to journalArticle

43 Scopus citations
13 Scopus citations

Production and use of antibodies to mouse salivary androgen binding protein

Dlouhy, S. R., Nichols, W. C. & Karn, R. C., Jan 1 1984, In : Federation Proceedings. 43, 6, p. no. 614

Research output: Contribution to journalArticle

1 Scopus citations
1983

Clouston syndrome: an ultrastructural study

Escobar, V., Goldblatt, L. I., Bixler, D. & Weaver, D., Aug 1983, In : Clinical Genetics. 24, 2, p. 140-146 7 p.

Research output: Contribution to journalArticle

15 Scopus citations

Dicentric chromosome 13 and centromere inactivation

Schwartz, S., Palmer, C. G., Weaver, D. D. & Priest, J., Jun 1 1983, In : Human Genetics. 63, 4, p. 332-337 6 p.

Research output: Contribution to journalArticle

19 Scopus citations

Epidermolysis Bullosa—Pyloric Atresia: An Autosomal Recessive Syndrome

Bull, M. J., Norins, A. L., Weaver, D. D., Weber, T. & Mitchell, M., May 1983, In : American Journal of Diseases of Children. 137, 5, p. 449-451 3 p.

Research output: Contribution to journalArticle

46 Scopus citations

Juvenile chronic granulocytic leukemia in a patient with trisomy 8, neurofibromatosis, and prolonged Epstein-Barr virus infection

Palmer, C. G., Provisor, A. J., Weaver, D. D., Hodes, M. E. & Heerema, N., Jun 1983, In : The Journal of pediatrics. 102, 6, p. 888-892 5 p.

Research output: Contribution to journalArticle

28 Scopus citations

New syndrome of congenital ichthyosis with neurologic abnormalities

Zunich, J. & Kaye, C. I., Jan 1 1983, In : American journal of medical genetics. 15, 2, p. 331-333 3 p.

Research output: Contribution to journalArticle

18 Scopus citations

Pregnant women's attitudes toward the abortion of defective fetuses

Faden, R., Chwalow, A. J., Chase, G. A., Quaid, K., Leonard, C. & Holtzman, N. A., Dec 1 1983, In : Population and Environment. 6, 4, p. 197-209 13 p.

Research output: Contribution to journalArticle

2 Scopus citations

Preparatory interval influences on reaction-time of elderly adults

Strauss, M. E., Wagman, A. M. I. & Quaid, K. A., Jan 1 1983, In : Journals of Gerontology. 38, 1, p. 55-57 3 p.

Research output: Contribution to journalArticle

8 Scopus citations

Syndrome identification case report 95: Congenital fusion of the gums and jaws

Kittur, S. D., Weaver, D. D. & Maves, M. D., Dec 1 1983, In : Journal of Clinical Dysmorphology. 1, 2, p. 2-4 3 p.

Research output: Contribution to journalArticle

2 Scopus citations
24 Scopus citations
1982

Hyperexplexia: Not Hereditary Stiff-Baby Syndrome

Weaver, D. D. & Morley, D. J., Jun 1982, In : American Journal of Diseases of Children. 136, 6, 1 p.

Research output: Contribution to journalLetter

4 Scopus citations

Hyperexplexia: An inherited disorder of the startle response

Morley, D. J., Weaver, D. D., Garg, B. P. & Markand, O., 1982, In : Clinical Genetics. 21, 6, p. 388-396 9 p.

Research output: Contribution to journalArticle

43 Scopus citations

Pericentric X inversion in dizygotic twins who differ in X chromosome inactivation and menstrual cycle function

Keitges, E. A., Palmer, C. G. & Weaver, D. D., Dec 1 1982, In : Human Genetics. 62, 3, p. 210-213 4 p.

Research output: Contribution to journalArticle

12 Scopus citations

Prader‐Willi syndrome: Are there population differences?

Butler, M. G., Weaver, D. D. & Meaney, F. J., Nov 1982, In : Clinical Genetics. 22, 5, p. 292-294 3 p.

Research output: Contribution to journalArticle

13 Scopus citations

Sex-limited genetic variation in a mouse salivary protein

Karn, R. C., Dlouhy, S. R., Springer, K. R., Hjorth, J. P. & Nielsen, J. T., Jun 1 1982, In : Biochemical Genetics. 20, 5-6, p. 493-504 12 p.

Research output: Contribution to journalArticle

12 Scopus citations
1981

Microcephaly, Microphthalmia, Falciform Retinal Folds, and Blindness: A New Syndrome

Jarmas, A. L., Weaver, D. D., Ellis, F. D. & Davis, A., Oct 1981, In : American Journal of Diseases of Children. 135, 10, p. 930-933 4 p.

Research output: Contribution to journalArticle

25 Scopus citations

Naloxone alters pain perception after jogging

Haier, R. J., Quaid, K. & Mills, J. S. C., Oct 1981, In : Psychiatry Research. 5, 2, p. 231-232 2 p.

Research output: Contribution to journalLetter

82 Scopus citations

Prenatal diagnosis - A compilation of diagnosed conditions

Stephenson, S. R. & Weaver, D. D., Jan 1 1981, In : American Journal of Obstetrics and Gynecology. 141, 3, p. 319-343 25 p.

Research output: Contribution to journalArticle

31 Scopus citations

The axial mesodermal dysplasia spectrum

Russell, L. J., Weaver, D. D. & Bull, M. J., Jan 1 1981, In : Pediatrics. 67, 2, p. 176-182 7 p.

Research output: Contribution to journalArticle

116 Scopus citations
1980

CONGENITAL ABNORMALITIES IN BABY BORN TO CYTARABINE TREATED MOTHER

Wagner, V. M., Hill, J. S., Weaver, D. & Baehner, R. L., Jan 1 1980, In : The Lancet. 316, 8185, p. 98-99 2 p.

Research output: Contribution to journalLetter

50 Scopus citations

Failure of X inactivation in the autosomal segment of an X/A translocation

Palmer, C. G., Hubbard, T. W., Henry, G. W. & Weaver, D. D., Jan 1 1980, In : American Journal of Human Genetics. 32, 2, p. 179-187 9 p.

Research output: Contribution to journalArticle

18 Scopus citations

Failure of X inactivation in the autosomal segment of an X/A translocation

Palmer, C. G., Hubbard, T. W., William Henry, G. W. & Weaver, D. W., Sep 1980, In : Obstetrical and Gynecological Survey. 35, 9, p. 581-583 3 p.

Research output: Contribution to journalArticle

Familial variation of head size and adjustment for parental head circumference

Weaver, D. D. & Christian, J. C., Jun 1980, In : The Journal of pediatrics. 96, 6, p. 990-994 5 p.

Research output: Contribution to journalArticle

65 Scopus citations
1979

Analysis of maize alcohol dehydrogenase by native-SDS two dimensional electrophoresis and autoradiography

Ferl, R. J., Dlouhy, S. R. & Schwartz, D., Jan 1 1979, In : MGG Molecular & General Genetics. 169, 1, p. 7-12 6 p.

Research output: Contribution to journalArticle

36 Scopus citations
1978

Aarskog Syndrome: New Findings and Genetic Analysis

Escobar, V. & Weaver, D. D., Dec 8 1978, In : JAMA: The Journal of the American Medical Association. 240, 24, p. 2638-2641 4 p.

Research output: Contribution to journalArticle

14 Scopus citations

Femoral hypoplasia - unusual facies syndrome

Gleiser, S., Weaver, D. D., Escobedo, M. & Nichols, G., Jan 1 1978, In : Birth Defects: Original Article Series. 14, 6 B, p. 370-371 2 p.

Research output: Contribution to journalArticle

Fermoral hypoplasia-unusual facies syndrome from another viewpoint

Gleiser, S., Weaver, D. D., Escobar, V., Nichols, G. & Escobedo, M., Mar 1 1978, In : European Journal of Pediatrics. 128, 1, p. 1-5 5 p.

Research output: Contribution to journalArticle

20 Scopus citations

Microcephaly and the caudal regression anomalad

Sisk, C. J., Hodes, M. E. & Weaver, D. D., Jan 1 1978, In : Birth Defects: Original Article Series. 14, 6 B, p. 379-380 2 p.

Research output: Contribution to journalArticle

Multiple Pterygium Syndrome

Escobar, V., Bixler, D., Gleiser, S., Weaver, D. D. & Gibbs, T., Jun 1978, In : American Journal of Diseases of Children. 132, 6, p. 609-611 3 p.

Research output: Contribution to journalArticle

73 Scopus citations

Phenotypic and genetic analysis of the Silver‐Russell syndrome

Escobar, V., Gleiser, S. & Weaver, D. D., Mar 1978, In : Clinical Genetics. 13, 3, p. 278-288 11 p.

Research output: Contribution to journalArticle

38 Scopus citations

Popliteal pterygium syndrome. A phenotypic and genetic analysis

Escobar, V. & Weaver, D., Jan 1 1978, In : Journal of Medical Genetics. 15, 1, p. 35-42 8 p.

Research output: Contribution to journalArticle

28 Scopus citations

The facio-genito-popliteal syndrome

Escobar, V. & Weaver, D. D., Dec 1 1978, In : Birth Defects: Original Article Series. 14, 6 B, p. 185-192 8 p.

Research output: Contribution to journalArticle

7 Scopus citations

Toxoplasmosis masquerading as a psychotropic side effect

Pariser, S. F., Zunich, J. & Pinta, E. R., Dec 1 1978, In : Journal of Clinical Psychiatry. 39, 7, p. 631-632 2 p.

Research output: Contribution to journalArticle

4 Scopus citations
1977

A syndrome of microcephaly, mental retardation, unusual facies, cleft palate, and weight deficiency

Weaver, D. D. & Williams, C. P. S., Dec 1 1977, In : Birth Defects: Original Article Series. 13, 3 B, p. 69-84 16 p.

Research output: Contribution to journalArticle

2 Scopus citations

Maxillofacial dysostosis

Escobar, V., Eastman, J., Weaver, D. & Melnick, M., 1977, In : Journal of Medical Genetics. 14, 5, p. 355-358 4 p.

Research output: Contribution to journalArticle

Open Access
4 Scopus citations

The fetal trimethadione syndrome

Feldman, G. L., Weaver, D. D. & Lovrien, E. W., Jan 1 1977, In : American Journal of Human Genetics. 29, 6, p. 41A

Research output: Contribution to journalArticle

The Fetal Trimethadione Syndrome: Report of an Additional Family and Further Delineation of This Syndrome

Feldman, G. L., Weaver, D. D. & Lovrien, E. W., Dec 1977, In : American Journal of Diseases of Children. 131, 12, p. 1389-1392 4 p.

Research output: Contribution to journalArticle

60 Scopus citations