R. C. Schwartz

发表

Use of molecular haplotypes specific for the human pro alpha 2(I) collagen gene in linkage analysis of the mild autosomal dominant forms of osteogenesis imperfecta.

C. Falk, P. Tsipouras, F. Ramirez, 1986, American journal of human genetics.

Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen.

P. Byers, J. Bonadio, P. Tsipouras, 1988, American journal of human genetics.

Autosomal dominant Emery–Dreifuss dystrophy due to mutations in rod domain of the lamin A/C gene

K. Felice, C. Brown, M. Grunnet, 2000, Neurology.

Molecular and phenotypic evaluation of a novel germline TMEM127 mutation with an uncommon clinical presentation.

P. Dahia, C. Malchoff, Shahida K. Flores, 2018, Endocrine-related cancer.

Lack of linkage disequilibrium between two common restriction sites associated with the COLIA2 gene.

P. Tsipouras, R. C. Schwartz, S. Halloran-Blanton, 1989, American journal of human genetics.

Linkage analysis in Marfan syndrome.

S. Blanton, M. Sarfarazi, P. Tsipouras, 1990, Journal of medical genetics.

Molecular and phenotypic evaluation of a novel germline TMEM127 mutation with an uncommon clinical presentation.

P. Dahia, C. Malchoff, Shahida K. Flores, 2017, Endocrine-related cancer.

Ehlers-Danlos syndrome type IV: cosegregation of the phenotype to a COL3A1 allele of type III procollagen

P. Byers, D. Weil, S. Cassidy, 1986, Human Genetics.

Genetic evidence that mutations in the COL1A1, COL1A2, COL3A1, or COL5A2 collagen genes are not responsible for mitral valve prolapse.

R. Devereux, A. Child, P. Tsipouras, 1989, British heart journal.

Genetic evidence thatmutations intheCOLJAJ, COLJA2,COL3AJ,orCOLSA2collagen genesare notresponsible formitral valve prolapse

R. Devereux, A. Henney, G. Leech, 1989 .

Subterm induction of labor in the management of erythroblastosis fetalis.

R. C. Schwartz, R. Mclean, F. Roberts, 1956, American journal of obstetrics and gynecology.

Artificial Insemination by Donors: The Need for Genetic Screening. Late‐Infantile GM2-Gangliosidosis Resulting from This Technique

W. Johnson, A. Chutorian, R. C. Schwartz, 1981, The New England journal of medicine.

Protein kinase C: a new linkage marker for growth hormone and for COL1A1.

H. Willard, A. Ullrich, J. Keefer, 1989, Genomics.

Prenatal prediction of osteogenesis imperfecta (OI type IV): exclusion of inheritance using a collagen gene probe.

R. Berkowitz, J. Goldberg, P. Tsipouras, 1987, Journal of medical genetics.

Prenatal prediction of osteogenesis imperfecta

P. Tsipouras, R. C. Schwartz, J. Goldbergt, 2004 .

Genetic distance of two fibrillar collagen loci, COL3A1 and COL5A2, located on the long arm of human chromosome 2.

D. Weil, P. Tsipouras, F. Ramirez, 1988, Genomics.

New England Consortium: A model for medical evaluation of expanded newborn screening with tandem mass spectrometry

M. Seashore, S. Waisbren, L. Demmer, 2001, Journal of Inherited Metabolic Disease.