Carol Booth

Advocate Lutheran General Hospital — United States

Social Sciences · Social Sciences

11h-index1.0kcitations19works0.02yr avg
OpenAlex↗Google Scholar↗Lab page↗

Accepting Students?

No reports yet. Know if this professor is taking students?

Research Topics

Sociology and Education Studies(2), Prenatal Screening and Diagnostics(2), Genomic variations and chromosomal abnormalities(2), Connective tissue disorders research(2), Pediatric Hepatobiliary Diseases and Treatments(2)

Publications19 total

A loss of function mutation in the <i>COL9A2</i> gene causes autosomal recessive Stickler syndrome
American Journal of Medical Genetics Part A·2011· 107 cited
Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations
The American Journal of Human Genetics·2005· 276 citedOpen Access
Vascular Anomalies in Alagille Syndrome
Circulation·2004· 354 citedOpen Access
Prenatal Presentation of Hyperinsulinism
Pediatric Research·1999Open Access
A personal stake. Interview by Nick Lipley.
PubMed·1998
Bilateral Retinoblastoma in a Male Patient with an X;13 Translocation: Evidence for Silencing of the RB1 Gene by the Spreading of X Inactivation
The American Journal of Human Genetics·1997· 26 citedOpen Access
Identification of a case of maternal uniparental disomy of chromosome 10 associated with confined placental mosaicism
Prenatal Diagnosis·1995· 98 cited
Acute myeloid leukemia and myelodysplasia following intensive chemotherapy for breast cancer.
PubMed·1995· 29 cited
Ethnic heterogeneity and cystic fibrosis transmembrane regulator (CFTR) mutation frequencies in Chicago-area CF families.
PubMed·1992· 18 cited
A second-site mutation at phenylalanine-137 that increases catalytic efficiency in the mutant aspartate-27 .fwdarw. serine Escherichia coli dihydrofolate reductase
Biochemistry·1990· 29 cited
Prenatal detection of 46,XY,rec(5),dup q, inv(5)(p13q33) using DNA analysis, flow cytometry, and in situ hybridization to supplement classical cytogenetic analysis
American Journal of Medical Genetics·1988· 18 cited
Prenatal diagnosis of Weyers syndrome (deficient ulnar and fibular rays with bilateral hydronephrosis)
American Journal of Medical Genetics·1985· 22 cited
Familial occurrence of congenital colonic atresia
The Journal of Pediatrics·1981· 23 cited
Buchbesprechumgen – Book Reviews – Livres Nouveaux
Digestion·1965Open Access
Buchbesprechungen – Book Reviews – Livres Nouveaux
Digestion·1965Open Access
Buchbesprechungen – Book Reviews – Livres Nouveaux
Digestion·1965Open Access
Seite der Therapie – Page de Thérapeutique
Digestion·1965Open Access
Innaltsverzeichnis, Vol. 104, No. 1, 1965
Digestion·1965Open Access
Contents, Vol. 104, 1965
Digestion·1965Open Access

Frequent Co-authors

Robert E. Mark(6), Helmut Holzer(6), R. Wenger(6), N. Zöllner(6), G. Birke(6), G.A. Martini(6), Giovanni Bacci(6), K. Vossschulte(6), H. Schulten(6), V Rapant(6), C Dvorácek(6), V. Valach(6), B. Herman(6), K. Hermanová(6), F. Langr(6), J Parízek(6), M Hradský(6), W. Pruzanski(6), O.N. Manousos(6), S. Salem(6)