Research Topics
| Melanie ManningSummaryAffiliation: Stanford University Country: USA Publications
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Publications
Fetal alcohol spectrum disorders: a practical clinical approach to diagnosisMelanie A Manning
Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, CA 94305 5208, USA
Neurosci Biobehav Rev 31:230-8. 2007..Thus, the purpose of this report is to educate practicing physicians about the recognizable phenotypes of FASD in order to accurately identify these children and implement the most appropriate management plans...
Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalitiesMelanie Manning
Department of Pathology, Stanford University School of Medicine, Stanford, California 94305, USA
Genet Med 12:742-5. 2010..Thus, a review of the utility and limitations of these techniques and recommendations regarding present and future application in the clinical setting are presented in this study...- Neu-Laxova syndrome: detailed prenatal diagnostic and post-mortem findings and literature reviewMelanie A Manning
Department of Pediatrics, Stanford University School of Medicine, Stanford, California 94305 5208, USA
Am J Med Genet A 125:240-9. 2004..Data from these patients suggest that the NLS represents a heterogeneous phenotype. Prenatal ultrasound findings of marked ocular proptosis in a growth restricted, edematous fetus should prompt consideration of a diagnosis of the NLS... - Terminal 22q deletion syndrome: a newly recognized cause of speech and language disability in the autism spectrumMelanie A Manning
Department of Pediatrics, Division of Medical Genetics, H 315, Stanford University School of Medicine, Stanford, California 94305 5208, USA
Pediatrics 114:451-7. 2004.... - Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridizationJoseph T C Shieh
Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, California 94305-5208, USA
Am J Med Genet A 140:1267-73. 2006.... - Methotrexate/misoprostol embryopathy: report of four cases resulting from failed medical abortionMargaret P Adam
Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, California 94305 5208, USA
Am J Med Genet A 123:72-8. 2003.... - 22q13.3 deletion syndrome: a recognizable malformation syndrome associated with marked speech and language delayKristina Cusmano-Ozog
Division of Medical Genetics, H 315, Department of Pediatrics, Stanford University School of Medicine, Stanford, CA 94305 5208, USA
Am J Med Genet C Semin Med Genet 145:393-8. 2007.... - Use of array-based technology in the practice of medical geneticsMelanie Manning
Department of Pathology, Stanford University School of Medicine, Stanford, California, USA
Genet Med 9:650-3. 2007..We discuss the utility and limitations of using this technology in the evaluation of individuals with mental retardation and malformations, citing the existing literature... 
Chromosome 22q11.2 deletion syndrome in African-American patients: a diagnostic challengeAravindhan Veerapandiyan
Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA
Am J Med Genet A 155:2186-95. 2011..Therefore, a high index of suspicion is needed to recognize 22q11DS in African-American individuals...- Developmental pathogenesis of short palpebral fissure length in children with fetal alcohol syndromeKenneth Lyons Jones
Department of Pediatrics, University of California, San Diego, La Jolla, California 92093 0828, USA
Birth Defects Res A Clin Mol Teratol 85:695-9. 2009..The purpose of this study was to examine whether short palpebral fissures are independent of or determined by the OFC... - Intracranial hemorrhage in infants and children with hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome)Terry Morgan
Department of Pathology, Stanford University, Stanford, California, USA
Pediatrics 109:E12. 2002..None of these children was suspected of having HHT before the incident, despite family histories of the disease... - Whole-genome array-CGH identifies novel contiguous gene deletions and duplications associated with developmental delay, mental retardation, and dysmorphic featuresSwaroop Aradhya
Department of Pathology, Stanford University School of Medicine, Stanford, California, USA
Am J Med Genet A 143:1431-41. 2007.... - Diagnosis and management of the adolescent boy with Klinefelter syndromeMelanie A Manning
Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, California 94305-5208, USA
Adolesc Med 13:367-74, viii. 2002..Several manifestations of the syndrome, however, should be monitored during adolescence and require the primary care physician's attention... - A report of three patients with an interstitial deletion of chromosome 15q24Lisa J Cushman
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, 46202, USA
Am J Med Genet A 137:65-71. 2005..Furthermore, we suggest that FISH analysis with a probe for the PML gene be performed in patients with these physical findings...