IraSSalafskyMDPhysician

PubMed

• 77 citations
  Genome-wide allelic methylation analysis reveals disease-specific susceptibility to multiple methylation defects in imprinting syndromes.
  Franck Court, Alex Martin-Trujillo, Valeria Romanelli, Intza Garin, Isabel Iglesias-Platas, Ira S. Salafsky, Miriam Guitart, Guiomar Perez de Nanclares, Pablo Lapunzin...> ;Human Mutation. 2013 Apr 1
• 35 citations
  Maternal UPD 20 in an infant from a pregnancy with mosaic trisomy 20
  Ira S. Salafsky, Scott N. MacGregor, Uwe Claussen, Ferdinand von Eggeling> ;Prenatal Diagnosis. 2001 Oct 1
• 3 citations
  Clinical implications of atypical chromosome abnormalities diagnosed prenatally.
  Richard K. Silver, Katherine A. Blum, Leslie J. Geibel, Judith A. Beaird, Ira S. Salafsky, Scott N. MacGregor> ;Obstetrics and Gynecology. 1999 Dec 1
• 10 citations
  American College of Medical Genetics statement on folic acid: Fortification and supplementation
  Barbara F. Crandall, Virginia L. Corson, Mark I. Evans, James D. Goldberg, George Knight, Ira S. Salafsky> ;American Journal of Medical Genetics. 1998 Jul 24
• 18 citations
  Folic acid and pregnancy.
  Barbara F. Crandall, Virginia L. Corson, James D. Goldberg, George Knight, Ira S. Salafsky> ;American Journal of Medical Genetics. 1995 Jan 2
• 93 citations
  Fetal alcohol syndrome in dizygotic twins.
  Ira S. Salafsky> ;The Journal of Pediatrics. 1975 Dec 1
• 49 citations
  A fluorometric assay of alpha-glucosidase and its application in the study of Pompe's disease.
  Ira S. Salafsky, Henry L. Nadler> ;The Journal of Laboratory and Clinical Medicine. 1973 Mar 1
• 25 citations
  Deficiency of acid alpha glucosidase in the urine of patients with Pompe's disease.
  Ira S. Salafsky, Henry L. Nadler> ;The Journal of Pediatrics. 1973 Feb 1
• 10 citations
  Intracellular organelles and enzymes in cell-free amniotic fluid☆
  Ira S. Salafsky, Henry L. Nadler> ;American Journal of Obstetrics and Gynecology. 1971 Dec 15
• 45 citations
  Alpha-1,4 glucosidase activity in Pompe's disease.
  Ira S. Salafsky, Henry L. Nadler> ;The Journal of Pediatrics. 1971 Nov 1
• Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation.
  Morava, E., Lefeber, D. J., Urban, Z., de Meirleir, L., Meinecke, P., Gillessen Kaesbach, G., Sykut-Cegielska, J., Adamowicz, M., Salafsky, I., Ranells, J., Lemyre, E....> ;Eur J Hum Genet. 2008 Jan
• Dysplasia of the knee associated with the syndrome of thrombocytopenia and absent radius.
  Schoenecker, P. L., Cohn, A. K., Sedgwick, W. G., Manske, P. R., Salafsky, I., Millar, E. A.> ;J Bone Joint Surg Am. 1984 Mar
• Prenatal diagnosis of Pompe''s disease.
  Salafsky, I., Nadler, H. L.> ;N Engl J Med. 1971 Apr 01
• Computerized tomography and ultrasound in the diagnosis of cerebro-hepato-renal syndrome of Zellweger.
  Weese-Mayer, D. E., Smith, K. M., Reddy, J. K., Salafsky, I., Poznanski, A. K.> ;Pediatr Radiol. 1987
• Deletion of band 5q21 in association with a de novo translocation involving 2p and 5q.
  Yung, J. F., Williamson, N., Salafsky, I., Hoo, J. J.> ;J Med Genet. 1988 Aug
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