Medical & Molecular Genetics

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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

1 Scopus citations

Maxillofacial dysostosis

Escobar, V., Eastman, J., Weaver, D. & Melnick, M., Dec 1 1977, In : Journal of Medical Genetics. 14, 5, p. 355-358 4 p.

Research output: Contribution to journalArticle

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

59 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

27 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
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
1980

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

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

16 Scopus citations

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
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

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
1982

Hyperexplexia: An inherited disorder of the startle response

Morley, D. J., Weaver, D. D., Garg, B. P. & Markand, O., Jan 1 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
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

17 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
1984

Endocrine and genetic characterization of cousins with male pseudohermaphroditism: evidence that the Lubs pheno‐type can result from a mutation that alters the structure of the androgen receptor

Wilson, J. D., Carlson, B. R., Weaver, D. D., Kovacs, W. J. & Griffin, J. E., Oct 1984, In : Clinical Genetics. 26, 4, p. 363-370 8 p.

Research output: Contribution to journalArticle

2 Scopus citations

Ethical considerations in medical genetics - The prenatal diagnosis of hemophilia B

Smurl, J. F., Weaver, D. D., Jarmas, A. & Padilla, L. M., Jan 1 1984, In : American Journal of Medical Genetics. 17, 4, p. 773-781 9 p.

Research output: Contribution to journalArticle

1 Scopus citations

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

39 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
1985

Congenital contractural arachnodactyly Report of four additional families and review of literature

Arroyo, M. A. R., Weaver, D. D. & Beals, R. K., Jun 1985, In : Clinical Genetics. 27, 6, p. 570-581 12 p.

Research output: Contribution to journalArticle

55 Scopus citations

Congenital Migratory Ichthyosiform Dermatosis With Neurologic and Ophthalmologic Abnormalities

Zunich, J., Esterly, N. B., Holbrook, K. A. & Kaye, C. I., Sep 1985, In : Archives of Dermatology. 121, 9, p. 1149-1156 8 p.

Research output: Contribution to journalArticle

15 Scopus citations

Patent ductus arteriosus, atrial septal defect and branch pulmonary artery stenosis: A possible new syndrome

Mahony, L., Scully, W. E., Weaver, D. D., Girod, D. A., Brown, J. W., Caldwell, R. L. & Hurwitz, R. A., Mar 1 1985, In : The American Journal of Cardiology. 55, 6, p. 859-860 2 p.

Research output: Contribution to journalArticle

1986

Analysis of Growth in the VATER Association

Mapstone, C. L., Weaver, D. D. & Yo, P., Apr 1986, In : American Journal of Diseases of Children. 140, 4, p. 386-390 5 p.

Research output: Contribution to journalArticle

10 Scopus citations

Assessment of risk by pregnant women: implications for genetic counseling and education.

Chase, G. A., Faden, R. R., Holtzman, N. A., Chwalow, A. J., Leonard, C. O., Lopes, C. & Quaid, K., Mar 1 1986, In : Social biology. 33, 1-2, p. 57-64 8 p.

Research output: Contribution to journalArticle

33 Scopus citations

Production of an antibody to mouse salivary androgen binding protein (ABP) and its use in identifying a prostate protein produced by a gene distinct from Abp

Dlouhy, S. R., Nichols, W. C. & Karn, R. C., Oct 1 1986, In : Biochemical Genetics. 24, 9-10, p. 743-763 21 p.

Research output: Contribution to journalArticle

21 Scopus citations

The VATER Association: Analysis of 46 Patients

Weaver, D. D., Mapstone, C. L. & Yu, P. L., Mar 1986, In : American Journal of Diseases of Children. 140, 3, p. 225-229 5 p.

Research output: Contribution to journalArticle

124 Scopus citations

Wiedemann-Beckwith syndrome: presentation of clinical and cytogenetic data on 22 new cases and review of the literature

Pettenati, M. J., Haines, J. L., Higgins, R. R., Wappner, R. S., Palmer, C. G. & Weaver, D. D., Oct 1 1986, In : Human genetics. 74, 2, p. 143-154 12 p.

Research output: Contribution to journalArticle

213 Scopus citations
1987

Brief clinical report: A syndrome of microcephaly, eye anomalies, short stature, and mental deficiency

Bouwes Bavinck, J. N., Weaver, D. D., Ellis, F. D. & Ward, R. E., Jan 1 1987, In : American Journal of Medical Genetics. 26, 4, p. 825-831 7 p.

Research output: Contribution to journalArticle

10 Scopus citations

Localization of the gene for a syndrome of X-linked skeletal dysplasia and mental retardation to Xq27-qter

Dlouhy, S. R., Christian, J. C., Haines, J. L., Conneally, P. M. & Hodes, M. E., Feb 1 1987, In : Human genetics. 75, 2, p. 136-139 4 p.

Research output: Contribution to journalArticle

16 Scopus citations

Prenatal screening and pregnant women's attitudes toward the abortion of defective fetuses

Faden, R. R., Chwalow, A. J., Quaid, K., Chase, G. A., Lopes, C., Leonard, C. O. & Holtzman, N. A., Jan 1 1987, In : American journal of public health. 77, 3, p. 288-290 3 p.

Research output: Contribution to journalArticle

Open Access
38 Scopus citations