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CM Powell

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Jane W Kimani; Craig A Buchman; Jessica K Booker; Benjamin Y Huang; Mauricio Castillo; CM Powell; Karen Weck-Taylor
Sensorineural hearing loss in a pediatric population: association of congenital cytomegalovirus infection with intracranial abnormalities.
Daynna J Wolff; Daniel L Van Dyke; CM Powell
Laboratory guideline for Turner syndrome.
Colleen L Schmitt; Julie S Moldenhauer; Honor M Wolfe; Kathleen Kaiser-Rogers; CM Powell
Prenatal diagnosis of mosaic complete trisomy 1q.

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All Publications

2010: Jane W Kimani; Craig A Buchman; Jessica K Booker; Benjamin Y Huang; Mauricio Castillo; CM Powell; Karen Weck-Taylor
Sensorineural hearing loss in a pediatric population: association of congenital cytomegalovirus infection with intracranial abnormalities.
Archives of otolaryngology--head & neck surgery 2010;136(10):999-1004.
2010: Daynna J Wolff; Daniel L Van Dyke; CM Powell
Laboratory guideline for Turner syndrome.
Genetics in medicine : official journal of the American College of Medical Genetics 2010;12(1):52-5.
2009: Colleen L Schmitt; Julie S Moldenhauer; Honor M Wolfe; Kathleen Kaiser-Rogers; CM Powell
Prenatal diagnosis of mosaic complete trisomy 1q.
American journal of medical genetics. Part A 2009;149A(8):1801-5.
2009: Zheng Fan; Robert Greenwood; Amy Fisher; Surekha Pendyal; CM Powell
Characteristics and frequency of seizure disorder in 56 patients with Prader-Willi syndrome.
American journal of medical genetics. Part A 2009;149A(7):1581-4.
2009: Karen Fritchie; Eija Siintola; Diane Armao; Anna-Elina Lehesjoki; Thomas Marino; CM Powell; Michael B Tennison; Jessica K Booker; Sabine Koch; Sanna Partanen; Kinuko Suzuki; Jaana Tyynelä; Leigh B Thorne
Novel mutation and the first prenatal screening of cathepsin D deficiency (CLN10).
Acta neuropathologica 2009;117(2):201-8.
2009: Jill A Rosenfeld; Blake C Ballif; Ann Lucas; Edward J Spence; CM Powell; Arthur S Aylsworth; Beth A Torchia; Lisa Shaffer
Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome.
PloS one 2009;4(8):e6568.
2008: Demetra S Stamm; CM Powell; Jeffrey M Stajich; Victoria L Zismann; Dietrich A Stephan; B Chesnut; Arthur S Aylsworth; Stephen Kahler; Kristen L Deak; John Gilbert; Marcy C Speer
Novel congenital myopathy locus identified in Native American Indians at 12q13.13-14.1.
Neurology 2008;71(22):1764-9.
2008: Don Coulter; CM Powell; Stuart Gold
Weaver syndrome and neuroblastoma.
Journal of pediatric hematology/oncology 2008;30(10):758-60.
2008: Demetra S Stamm; Arthur S Aylsworth; Jeffrey M Stajich; Stephen Kahler; Leigh B Thorne; Marcy C Speer; CM Powell
Native American myopathy: congenital myopathy with cleft palate, skeletal anomalies, and susceptibility to malignant hyperthermia.
American journal of medical genetics. Part A 2008;146A(14):1832-41.
2008: Donald B Bailey; Debra Skinner; Arlene M Davis; Ian Whitmarsh; CM Powell
Ethical, legal, and social concerns about expanded newborn screening: fragile X syndrome as a prototype for emerging issues.
Pediatrics 2008;121(3):e693-704.
2007: Christa Lese Martin; Jacqueline Duvall; Yesim Ilkin; Jason Simon; M Gladys Arreaza; Kristin Wilkes; Ana Alvarez-Retuerto; Amy Whichello; CM Powell; Kathleen W Rao; Edwin H Cook; Daniel Geschwind
Cytogenetic and molecular characterization of A2BP1/FOX1 as a candidate gene for autism.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2007;144B(7):869-76.
2007: Christian Kranz; Alice A Basinger; Müge Güçsavaş-Calikoğlu; Liangwu Sun; CM Powell; Frederick W Henderson; Arthur S Aylsworth; Hudson H Freeze
Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality.
American journal of medical genetics. Part A 2007;143A(12):1371-8.
2006: Lori Scanga; Shu Chaing; CM Powell; Arthur S Aylsworth; Lizzie J Harrell; Nancy G Henshaw; Chris Civalier; Leigh B Thorne; Karen Weck-Taylor; Jessica K Booker; Margaret L Gulley
Diagnosis of human congenital cytomegalovirus infection by amplification of viral DNA from dried blood spots on perinatal cards.
The Journal of molecular diagnostics : JMD 2006;8(2):240-5.
2005: Evadnie Rampersaud; A G Bassuk; D S Enterline; T M George; D G Siegel; E C Melvin; J Aben; J Allen; Arthur S Aylsworth; T Brei; J Bodurtha; C Buran; L E Floyd; P Hammock; B Iskandar; J Ito; J A Kessler; N Lasarsky; P Mack; J Mackey; D McLone; E Meeropol; L Mehltretter; L E Mitchell; W J Oakes; J S Nye; CM Powell; K Sawin; R Stevenson; M Walker; Sandra G West; G Worley; John Gilbert; M C Speer
Whole genomewide linkage screen for neural tube defects reveals regions of interest on chromosomes 7 and 10.
Journal of medical genetics 2005;42(12):940-6.
2005: Darren B Ravassipour; CM Powell; Ceib Phillips; P Suzanne Hart; Thomas Hart; Courtney Boyd; John Wright
Variation in dental and skeletal open bite malocclusion in humans with amelogenesis imperfecta.
Archives of oral biology 2005;50(7):611-23.
2002: Corinne R Fantz; CM Powell; Brad Karon; Curtis A Parvin; Kelly Hankins; Molina Dayal; Yoel Sadovsky; Vandita Johari; Fred S Apple; Ann M Gronowski
Assessment of the diagnostic accuracy of the TDx-FLM II to predict fetal lung maturity.
Clinical chemistry 2002;48(5):761-5.
2000: Kathleen Kaiser-Rogers; Kathleen W Rao; R C Michaelis; C M Lese; CM Powell
Usefulness and limitations of FISH to characterize partially cryptic complex chromosome rearrangements.
American journal of medical genetics 2000;95(1):28-35.
2000: M L Mah; David K Wallace; CM Powell
Ophthalmic manifestations of Angelman syndrome.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus / American Association for Pediatric Ophthalmology and Strabismus 2000;4(4):248-9.
1999: Allison Ashley-Koch; Chantelle M Wolpert; Marisa M Menold; L Zaeem; S Basu; Shannon L Donnelly; Sarah A Ravan; CM Powell; Mazin B Qumsiyeh; Arthur S Aylsworth; Jeffery Vance; John Gilbert; Harry H Wright; Ruth K Abramson; G Robert DeLong; Michael Cuccaro; Margaret Pericak-Vance
Genetic studies of autistic disorder and chromosome 7.
Genomics 1999;61(3):227-36.
1999: CM Powell; R C Michaelis
Townes-Brocks syndrome.
Journal of medical genetics 1999;36(2):89-93.
1998: S R Eubanks; Jeffrey A Kuller; D Amjadi; CM Powell
Prenatal diagnosis of mosaic trisomy 13: a case report.
Prenatal diagnosis 1998;18(9):971-4.
1997: Declan G M Murphy; Marc J Mentis; P Pietrini; C Grady; Eileen Daly; James V Haxby; M De La Granja; G Allen; K Largay; B J White; CM Powell; Barry Horwitz; Stanley I Rapoport; Mark B Schapiro
A PET study of Turner's syndrome: effects of sex steroids and the X chromosome on brain.
Biological psychiatry 1997;41(3):285-98.
1996: Oliver Bartsch; Wim Wuyts; Wim Van Hul; Jacqueline T Hecht; P Meinecke; D Hogue; W Werner; B Zabel; Georg Klaus Hinkel; CM Powell; L G Shaffer; Patrick J Willems
Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11.
American journal of human genetics 1996;58(4):734-42.
1994: Declan G M Murphy; G Allen; James V Haxby; K A Largay; Eileen Daly; B J White; CM Powell; Mark B Schapiro
The effects of sex steroids, and the X chromosome, on female brain function: a study of the neuropsychology of adult Turner syndrome.
Neuropsychologia 1994;32(11):1309-23.
1994: CM Powell; R T Taggart; T C Drumheller; D Wangsa; C Qian; Lawrence M Nelson; B J White
Molecular and cytogenetic studies of an X;autosome translocation in a patient with premature ovarian failure and review of the literature.
American journal of medical genetics 1994;52(1):19-26.
1993: Declan G M Murphy; Charles DeCarli; Eileen Daly; James V Haxby; G Allen; B J White; A R McIntosh; CM Powell; Barry Horwitz; Stanley I Rapoport
X-chromosome effects on female brain: a magnetic resonance imaging study of Turner's syndrome.
Lancet 1993;342(8881):1197-200.
1993: CM Powell; R S Chandra; Howard M Saal
PHAVER syndrome: an autosomal recessive syndrome of limb pterygia, congenital heart anomalies, vertebral defects, ear anomalies, and radial defects.
American journal of medical genetics 1993;47(6):807-11.
1993: W S Stanley; CM Powell; G C Devine; T Ellingham; C A Samango-Sprouse; D R Vaught; B A Murphy; K N Rosenbaum
Mosaic 5p tetrasomy.
American journal of medical genetics 1993;45(6):774-6.
1992: M H Gorelick; CM Powell; K N Rosenbaum; Howard M Saal; Joan A Conry; C R Fitz
Progressive occlusive cerebrovascular disease in a patient with neurofibromatosis type 1.
Clinical pediatrics 1992;31(5):313-5.