R. Goldberg

发表

New JAG1 Mutation Causing Alagille Syndrome Presenting With Severe Hypercholesterolemia: Case Report With Emphasis on Genetics and Lipid Abnormalities

Z. Hannoush, Herminia Puerta, M. Bauer, 2016, The Journal of clinical endocrinology and metabolism.

Shprintzen-Goldberg syndrome: a clinical analysis.

R. Shprintzen, D. Milewicz, J. Carey, 1998, American journal of medical genetics.

Anomalies associated with cleft lip, cleft palate, or both.

J. Opitz, R. Shprintzen, R. Goldberg, 1985, American journal of medical genetics.

Hirschsprung megacolon and cleft palate in two sibs.

R. Shprintzen, R. Goldberg, Robert J. Shprintzen, 1981, Journal of craniofacial genetics and developmental biology.

Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11.

R. Shprintzen, P. Scambler, J. Goodship, 1993, American journal of medical genetics.

The velo-cardio-facial syndrome: a clinical and genetic analysis.

R. Shprintzen, L. Wolford, R. Goldberg, 1981, Pediatrics.

Further delineation of Weaver syndrome.

R. Shprintzen, J. Hanson, H. Ardinger, 1986, The Journal of pediatrics.

Ocular findings in the velo-cardio-facial syndrome.

R. Shprintzen, A. Mansour, R. Goldberg, 1987, Journal of pediatric ophthalmology and strabismus.

Ocular findings in the facioauriculovertebral sequence (Goldenhar-Gorlin syndrome).

R. Shprintzen, A. Mansour, P. Henkind, 1985, American journal of ophthalmology.

Autosomal recessive inheritance in the Setleis bitemporal 'forceps marks' syndrome.

R. Shprintzen, D. Chitayat, M. Cohen, 1987, American journal of diseases of children.

The penetrance and variable expression of the Van der Woude syndrome: implications for genetic counseling.

R. Shprintzen, R. Goldberg, E. Sidoti, 1980, The Cleft palate journal.

Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome.

E. Zackai, N. Spinner, R. Shprintzen, 1992, American journal of medical genetics.

Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11.

R. Shprintzen, B. Morrow, M. Karayiorgou, 1995, Proceedings of the National Academy of Sciences of the United States of America.

Velo-cardio-facial syndrome: frequency and extent of 22q11 deletions.

R. Kucherlapati, R. Shprintzen, B. Morrow, 1995, American journal of medical genetics.

Velo-cardio-facial syndrome: a review of 120 patients.

R. Shprintzen, P. Scambler, R J Shprintzen, 1993, American journal of medical genetics.

Late-onset psychosis in the velo-cardio-facial syndrome.

R. Shprintzen, R. Goldberg, K. Golding-Kushner, 1992, American journal of medical genetics.

A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome.

R. Shprintzen, R J Shprintzen, R V Argamaso, 1978, The Cleft palate journal.

Male-to-male transmission of Robinow's syndrome. Its occurrence in association with cleft lip and cleft palate.

R. Shprintzen, P. Saenger, R. Goldberg, 1982, American journal of diseases of children.

Psychotic illness in patients diagnosed with velo-cardio-facial syndrome and their relatives.

D. Housman, R. Shprintzen, S. Antonarakis, 1994, The Journal of nervous and mental disease.

Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus

R. Shprintzen, P. Scambler, R. Williamson, 1992, The Lancet.

Cardiac malformations in the velocardiofacial syndrome.

R. Shprintzen, R. Goldberg, R. Goldberg, 1980, The American journal of cardiology.

Deletion of a portion of the long arm of chromosome 6.

R. Shprintzen, A. Ship, R. Goldberg, 1980, American journal of medical genetics.

Variable phenotypes in velocardiofacial syndrome with chromosomal deletion.

R. Shprintzen, P. Saenger, R. Goldberg, 1993, The Journal of pediatrics.

Severe coagulation abnormalities in Reye syndrome.

C. Pegelow, D. Powars, S. Turkel, 1977, The Journal of pediatrics.

Male-to-male transmission of the velo-cardio-facial syndrome: a case report and review of 60 cases.

R. Shprintzen, M. Williams, R. Goldberg, 1985, Journal of craniofacial genetics and developmental biology.

Retrospective diagnoses of previously missed syndromic disorders among 1,000 patients with cleft lip, cleft palate, or both.

R. Shprintzen, R. Goldberg, V. Siegel-Sadewitz, 1985, Birth defects original article series.

Dysmorphic facies, omphalocele, laryngeal and pharyngeal hypoplasia, spinal anomalies, and learning disabilities in a new dominant malformation syndrome.

R. Shprintzen, R. Goldberg, 1979, Birth defects original article series.

A recurrent pattern syndrome of craniosynostosis associated with arachnodactyly and abdominal hernias.

R. Shprintzen, R J Shprintzen, R B Goldberg, 1982, Journal of craniofacial genetics and developmental biology.