Search Results - "Heeger, Shauna"

The Changing Purpose of Prader-Willi Syndrome Clinical Diagnostic Criteria and Proposed Revised Criteria by Gunay-Aygun, Meral, Schwartz, Stuart, Heeger, Shauna, O'Riordan, Mary Ann, Cassidy, Suzanne B

“…Prader-Willi syndrome (PWS) is a complex, multisystem disorder. Its major clinical features include neonatal hypotonia, developmental delay, short stature,…”
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Clinical and Molecular Findings in Osteoporosis-Pseudoglioma Syndrome by Ai, Minrong, Heeger, Shauna, Bartels, Cynthia F., Schelling, Deborah K.

“…Mutations in the low-density lipoprotein receptor–related protein 5 gene (LRP5) cause autosomal recessive osteoporosis-pseudoglioma syndrome (OPPG). We…”
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Intravenous Bisphosphonate Therapy in Children With Osteogenesis Imperfecta by Falk, Marni J, Heeger, Shauna, Lynch, Katherine A, DeCaro, Kathleen R, Bohach, Deborah, Gibson, Karen S, Warman, Matthew L

“…Several studies have reported beneficial effects of bisphosphonates in children with osteogenesis imperfecta (OI); however, these studies have differed in the…”
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The natural history of euploid pregnancies with first-trimester cystic hygromas by Trauffer, Patrice M.L., Anderson, Carol E., Johnson, Anthony, Heeger, Shauna, Morgan, Patricia, Wapner, Ronald J.

“…OBJECTIVES: Little information is available with regard to prognosis of euploid fetuses with first-trimester nuchal hygromas. To evaluate this population, the…”
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First-trimester simple hygroma: cause and outcome by Johnson, M P, Johnson, A, Holzgreve, W, Isada, N B, Wapner, R J, Treadwell, M C, Heeger, S, Evans, M I

“…First-trimester fetuses with simple nuchal hygromas represent a population that is different from midgestation nuchal cystic hygroma in terms of karyotype…”
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The natural history of euploid pregnancies with first -trimester cystic hygromas by Trauffer, Patrice M.L., Anderson, Carol E., Johnson, Anthony, Heeger, Shauna, Morgan, Patricia, Wapner, Ronald J.

“…OBJECTIVES: Little information is available with regard to prognosis of euploid fetuses with first-trimester nuchal hygromas. To evaluate this population, the…”
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Prenatal diagnosis of fragile X syndrome

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Mixed clefting type in Rapp-Hodgkin syndrome by Neilson, Derek E., Brunger, Jeanne W., Heeger, Shauna, Bamshad, Michael, Robin, Nathaniel H.

“…Mixed clefting type (MCT) is the rare occurrence of cleft lip, with or without cleft palate, and cleft palate alone in the same pedigree. Here we present a…”
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Syntelencephaly in an infant of a diabetic mother by Robin, Nathaniel H., Ko, Lara M., Heeger, Shauna, Muise, Kevin L., Judge, Nancy, Bangert, Barbara A.

“…Here we report on an infant of a diabetic mother (IDM) with midline interhemispheric “fusion” (MIF), or syntelencephaly. This is a rare anomaly characterized…”
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