Research Topics
Species | Manu S RaamSummaryAffiliation: Cleveland Clinic Foundation Country: USA Publications
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Detail Information
Publications
Long-term outcomes of adults with features of VACTERL associationManu S Raam
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Building 35, Room 1B207, 35 Convent Drive MSC 3717, Bethesda, MD 20892 3717, USA
Eur J Med Genet 54:34-41. 2011....
Analysis of component findings in 79 patients diagnosed with VACTERL associationBenjamin D Solomon
Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD 20892, USA
Am J Med Genet A 152:2236-44. 2010..These findings have implications for both our understanding of VACTERL association and for the approach to research involving this condition...
Analysis of FOXF1 and the FOX gene cluster in patients with VACTERL associationNneamaka B Agochukwu
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Building 35, Room 1B207, 35 Convent Drive MSC 3717, Bethesda, MD 20892 3717, United States
Eur J Med Genet 54:323-8. 2011....
De novo deletion of chromosome 20q13.33 in a patient with tracheo-esophageal fistula, cardiac defects and genitourinary anomalies implicates GTPBP5 as a candidate geneBenjamin D Solomon
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
Birth Defects Res A Clin Mol Teratol 91:862-5. 2011..The causes of this condition are thought to be heterogeneous but are overall not well understood...
Analysis of genitourinary anomalies in patients with VACTERL (Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, Limb abnormalities) associationBenjamin D Solomon
Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD 20892 3717, USA
Congenit Anom (Kyoto) 51:87-91. 2011..There should be a high index of suspicion for the presence of GU anomalies even in patients who do not have spatially similar malformations...
Evidence for inheritance in patients with VACTERL associationBenjamin D Solomon
Medical Genetics Branch, National Human Genome Research Institute, NIH MSC 3717, Bethesda, MD 20892, USA
Hum Genet 127:731-3. 2010..The prevalence of component features in first-degree relatives is significantly higher than expected in the general population, which has implications for counseling of affected families and for research into possible etiologies...
Holoprosencephaly flashcards: A summary for the clinicianBenjamin D Solomon
National Human Genome Research Institute, USA
Am J Med Genet C Semin Med Genet 154:3-7. 2010..This material contains general information regarding the approach to patients with holoprosencephaly. For more detailed discussion, please refer to specific articles in this issue...
