Search Results - "Anderson, Carol E"

5q14.3 Deletion Manifesting as Mitochondrial Disease and Autism: Case Report by Ezugha, Herbert, Goldenthal, Michael, Valencia, Ignacio, Anderson, Carol E., Legido, Agustin, Marks, Harold

“…Mitochondrial disorders are usually associated with defects of 1 or more of the 5 complexes (I to V) of the electron transport chain, or respiratory chain…”
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Fraternal Twins With Autism, Severe Cognitive Deficit, and Epilepsy: Diagnostic Role of Chromosomal Microarray Analysis by Imitola, Jaime, MD, Walleigh, Diana, MD, Anderson, Carol E., MD, Jethva, Reena, MD, MBA, Carvalho, Karen S., MD, Legido, Agustin, MD, PhD, MBA, Khurana, Divya S., MD

“…A 7-year-old child presented with atypical absence epilepsy. He also had autism and severe cognitive deficit. As part of his diagnostic workup, a chromosomal…”
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Microarray Analysis in Children With Developmental Disorder or Epilepsy by Ezugha, Herbert, MD, Anderson, Carol E., MD, Marks, Harold G., MD, Khurana, Divya, MD, Legido, Agustín, MD, Valencia, Ignacio, MD

“…The technique of chromosomal microarray analysis identifies genetic imbalance. Evaluation of its diagnostic role in pediatrics is still underway. We describe…”
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Brainstem Tegmental Necrosis and Olivary Hypoplasia: Raising Awareness of a Rare Neuropathologic Correlate of Congenital Apnea by Katsetos, Christos D., MD, PhD, FRCPath, Anderson, Carol E., MD, Guzman, Miguel A., MD, Pascasio, Judy Mae, MD, de Chadarévian, Jean-Pierre, MD, FRCPC, Legido, Agustin, MD, PhD, MBA

“…This case study describes an instance of death in an early term female newborn with congenital apnea in the clinical setting of multiple congenital anomalies…”
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Expanding the SHOC2 mutation associated phenotype of noonan syndrome with loose anagen hair: Structural brain anomalies and myelofibrosis by Gripp, Karen W., Zand, Dina J., Demmer, Laurie, Anderson, Carol E., Dobyns, William B., Zackai, Elaine H., Denenberg, Elizabeth, Jenny, Kim, Stabley, Deborah L., Sol-Church, Katia

“…ABSTRACT Noonan syndrome is a heterogenous rasopathy typically presenting with short stature, characteristic facial features, cardiac abnormalities including…”
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Transposition of the great arteries in a neonate with Klinefelter syndrome-An incidental finding or a true association by Liu, Jinglan, Moulick, Achintya, Mesia, Cesar I., Ge, Shuping, Obiri, Nicholas, Anderson, Carol E.

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Absence of WNT4 gene mutation in a patient with MURCS association by Shoar, Zohreh, Ganguly, Tapan, Anderson, Carol E, De Luca, Francesco, Suarez, Elizabeth

“…MURCS (Mullerian duct aplasia, Renal anomalies, and Cervicothoracic Somite dysplasia) association is a group of congenital genito-urinary and skeletal…”
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Co-occurrence of non-mosaic trisomy 22 and inherited balanced t(4;6)(q33;q23.3) in a liveborn female: Case report and review of the literature by Kehinde, Folasade I., Anderson, Carol E., McGowan, Jane E., Jethva, Reena N., Wahab, Mohammed A., Glick, Adina R., Sterner Jr, Mark R., Pascasio, Judy M., Punnett, Hope H., Liu, Jinglan

“…Trisomy 22 is the third most common autosomal trisomy occurring in about 0.4% of all clinically recognized pregnancies. Complete non‐mosaic trisomy 22 is…”
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Response to Correspondence on ‘‘5q14.3 Deletion Manifesting as Mitochondrial Disease and Autism: Case Report’’ by Marks, Harold, Goldenthal, Michael, Valencia, Ignacio, Legido, Agustin, Ezugha, Herbert, Anderson, Carol E.

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Improvement of pancytopenia and thrombocytopenia with decreasing mosaicism for isochromosome Xp by Gray, S. Lauren, de Chadarévian, J.P., Anderson, Carol E., Shafer, Frank E., Punnett, Hope H., Morrissette, Jennifer J.D.

“…We report the unique association of variable constitutional mosaicism 46,X, i(X)(p10)/46,XX with recurrent thrombocytopenia in a child with failure to thrive…”
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A report of three patients with an interstitial deletion of chromosome 15q24 by Cushman, Lisa J., Torres‐Martinez, Wilfredo, Cherry, Athena M., Manning, Melanie A., Abdul‐Rahman, Omar, Anderson, Carol E., Punnett, Hope H., Thurston, Virginia C., Sweeney, Danielle, Vance, Gail H.

“…Partial monosomy of the q2 region of chromosome 15 has been infrequently reported. Moreover, interstitial deletions involving 15q22‐q24 have been described in…”
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Characterization of a Wilms tumor in a 9‐year‐old girl with trisomy 18 by Anderson, Carol E., Punnett, Hope H., Huff, Vicki, de Chadarévian, Jean‐Pierre

“…This is a report of a trisomy 18 patient who developed Wilms tumor in conjunction with perilobar nephroblastomatosis (NB) at 9 years and 5 months of age…”
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Prenatal zidovudine use and congenital anomalies in a Medicaid population by NEWSCHAFFER, C. J, COCROFT, J, ANDERSON, C. E, HAUCK, W. W, TURNER, B. J

“…To examine the association of prescribed zidovudine (ZDV) during pregnancy with congenital anomalies in a population-based cohort. Medicaid claims were used to…”
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Expanding the SH0C2 Mutation Associated Phenotype of Noonan Syndrome With Loose Anagen Hair: Structural Brain Anomalies and Myelofibrosis by Gripp, K W, Zand, D J, Demmer, L, Anderson, CE, Dobyns, W B, Zackai, E H, Denenberg, E, Jenny, K, Stabley, D L, Sol-Church, K

“…Noonan syndrome is a heterogenous rasopathy typically presenting with short stature, characteristic facial features, cardiac abnormalities including pulmonic…”
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Prenatal Zidovudine Use and Congenital Anomalies in a Medicaid Population by Newschaffer, Craig J., Cocroft, James, Anderson, Carol E., Hauck, Walter W., Turner, Barbara J.

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Patent ductus arteriosus and ventricular septal defect: trends in reported frequency by Anderson, C E, Edmonds, L D, Erickson, J D

“…Nationwide secular increases in the reported frequency of patent ductus arteriosus (PDA) and ventricular septal defect (VSD) are presented. Detailed…”
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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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The Gene for Bazex-Dupré-Christol Syndrome Maps to Chromosome Xq by Vabres, Pierre, Lacombe, Didier, Rabinowitz, Linda G., Aubert, Gérard, Anderson, Carol E., Taieb, Alain, Bonafe, Jean-Louis, Hors-Cayla, Marie-Claude

“…Bazex-Dupré-Christol syndrome is an inherited condition with skin cancer predisposition characterized by follicular atrophoderma, hypotrichosis, and early…”
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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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Painful keratoderma and photophobia: Hallmarks of tyrosinemia type II by Rabinowitz, Linda G., Williams, Lynn R., Anderson, Carol E., Mazur, Alice, Kaplan, Paige

“…Tyrosinemia type II (Richner-Hanhart syndrome), which is caused by a deficiency of hepatic tyrosine aminotransferase, results in elevated plasma and urinary…”
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