Dorothy K Grange
Affiliation: Washington University School of Medicine
- Two new patients with Curry-Jones syndrome with trichoblastoma and medulloblastoma suggest an etiologic role of the sonic hedgehog-patched-GLI pathwayDorothy K Grange
Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri 63110, USA
Am J Med Genet A 146:2589-97. 2008....
- Cantu syndrome in a woman and her two daughters: Further confirmation of autosomal dominant inheritance and review of the cardiac manifestationsDorothy K Grange
Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St Louis, Missouri 63110, USA
Am J Med Genet A 140:1673-80. 2006..The etiology of the cardiomegaly and pericardial effusions in Cantu syndrome is unknown. We review all previously reported cases of Cantu syndrome and the associated cardiac manifestations...
- Trisomy 20q13 --> 20qter in a girl with multiple congenital malformations and a recombinant chromosome 20 inherited from a paternal inversion (20)(p13q13.1): clinical report and review of the trisomy 20q phenotypeDorothy K Grange
Department of Pediatrics, Division of Medical Genetics, Washington University School of Medicine, St Louis, Missouri 63110, USA
Am J Med Genet A 137:308-12. 2005..To our knowledge this is the first report of a patient with rec(20)dup 20q...
- Severe bilateral panlobular emphysema and pulmonary arterial hypoplasia: unusual manifestations of Menkes diseaseDorothy K Grange
Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, USA
Am J Med Genet A 139:151-5. 2005....
- KATP channels and cardiovascular disease: suddenly a syndromeColin G Nichols
Center for the Investigation of Membrane Excitability Diseases and Department of Cell Biology and Physiology, Washington University School of Medicine, 660 South Euclid Avenue, St Louis, MO 63110, USA
Circ Res 112:1059-72. 2013..This realization of previously unconsidered consequences provides significant insight into the roles of the KATP channel in the cardiovascular system and suggests novel therapeutic possibilities...
- White matter integrity and executive abilities in individuals with phenylketonuriaJo Ann V Antenor-Dorsey
Department of Psychiatry, Campus Box 8134, Washington University School of Medicine, St Louis, MO 63110, USA
Mol Genet Metab 109:125-31. 2013..These findings are the first to demonstrate the interplay among microstructural white matter integrity, executive abilities, and Phe control in individuals with PKU...
- LIT1 and H19 methylation defects in isolated hemihyperplasiaRick A Martin
Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, USA
Am J Med Genet A 134:129-31. 2005..Eight children (29.6%) had a defect in methylation of one or both of these alleles, supporting our hypothesis that these epigenetic changes can result in a phenotype distinct from typical Beckwith-Wiedemann syndrome...
- Processing speed and executive abilities in children with phenylketonuriaAlicia L Janos
Department of Psychology, Campus Box 1125, Washington University, St Louis, MO 63130, USA
Neuropsychology 26:735-43. 2012..This study was conducted to examine processing speed, variability in processing speed, and the relationship between processing speed variables and executive abilities in children with early and continuously treated PKU...
- Chromosome 2p15p16.1 microdeletion syndrome: 2.5 Mb deletion in a patient with renal anomalies, intractable seizures and a choledochal cystVishwanathan Hucthagowder
Department of Pathology and Immunology, Washington University School of Medicine, Campus Box 8118, 660 South Euclid Avenue, St Louis, MO 63110, USA
Eur J Med Genet 55:485-9. 2012..1 Mb segment of the 2p15p16.1 region...
- Executive response monitoring and inhibitory control in children with phenylketonuria: effects of expectancyGabriel C Araujo
Department of Psychology, Washington University, St Louis, Missouri, USA
Dev Neuropsychol 38:139-52. 2013..No effects of age or phenylalanine level were noted. These results indicate that expectancy differentially effects monitoring and inhibitory control in PKU...
- Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletionsAyman W El-Hattab
Division of Medical Genetics, Department of Child Health, University of Missouri Health Care, Columbia, Missouri, USA
J Med Genet 48:840-50. 2011..X linked intellectual disability (XLID) is common, with an estimated prevalence of 1/1000. The expanded use of array comparative genomic hybridisation (CGH) has led to the identification of several XLID-associated copy-number variants...
- Age-related decline in the microstructural integrity of white matter in children with early- and continuously-treated PKU: a DTI study of the corpus callosumDesiree A White
Department of Psychology, Campus Box 1125, Washington University, One Brookings Drive, St Louis, MO 63130, USA
Mol Genet Metab 99:S41-6. 2010..e., genu, rostral body). These findings point to an age-related decrement in the microstructural integrity of the anterior white matter of the corpus callosum in children with PKU...
- Tetrahydrobiopterin therapy for phenylketonuria in infants and young childrenBarbara K Burton
Department of Pediatrics, Northwestern University Feinberg School of Medicine and PKU Clinic, Children s Memorial Hospital, Chicago, IL 60614 3363, USA
J Pediatr 158:410-5. 2011..To describe patient selection, treatment administration, response evaluation, and side effect management associated with sapropterin therapy in infants and children aged <4 years...
- Pilocytic astrocytoma in a child with Noonan syndromeLaura G Schuettpelz
Department of Pediatrics, Washington University School of Medicine, Saint Louis, Missouri 63110, USA
Pediatr Blood Cancer 53:1147-9. 2009..We report here a patient with PTPN11 mutation-associated NS and a pilocytic astrocytoma...
- Case report: Congenital knee dislocation in a patient with larsen syndrome and a novel filamin B mutationMatthew B Dobbs
Department of Orthopaedic Surgery, Washington University School of Medicine, One Children s Place, Suite 4S20, St Louis, MO 63110, USA
Clin Orthop Relat Res 466:1503-9. 2008..Longer followup is needed to ensure maintenance of correction and to avoid the need for more extensive surgery, which has been the traditional treatment for congenital knee dislocation associated with Larsen syndrome...
- Response monitoring in children with phenylketonuriaGabriel C Araujo
Department of Psychology, Washington University, St Louis, MO 63130, USA
Neuropsychology 23:130-4. 2009..The magnitude of posterror slowing, however, was significantly less for children with PKU. These findings indicate deficient response monitoring in children with PKU...
- Inhibitory control in children with phenylketonuriaShawn E Christ
Department of Psychological Sciences, University of Missouri Columbia, Department of Psychology, Washington University, St Louis, MO 65211, USA
Dev Neuropsychol 30:845-64. 2006..Findings suggest that the inhibitory deficit associated with PKU is subtle and that inconsistent findings in past studies may be largely due to the insensitivity of experimental manipulations in some tasks...
- Case report: lethal multiple pterygium syndromeDavid S Brink
Saint Louis University School of Medicine, Department of Pathology, SSM Cardinal Glennon Children s Hospital, St Louis, Missouri 63104 1095, USA
Pediatr Pathol Mol Med 22:461-70. 2003..Intrauterine fetal demise was diagnosed at 31 weeks' estimated gestational age. Subsequent fetopsy established the diagnosis of LMPS. Macroscopic, microscopic, and radiographic findings in the case are discussed, and LMPS is reviewed...
- Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutationsJennifer J Johnston
National Institutes of Health, National Human Genome Research Institute, Bethesda, MD 20892 4472, USA
Am J Hum Genet 76:609-22. 2005..These results demonstrate a robust correlation of genotype and phenotype for GLI3 mutations and strongly support the hypothesis that these two allelic disorders have distinct modes of pathogenesis...
- New cases of Bohring-Opitz syndrome, update, and critical review of the literatureAxel Bohring
Institut fur Humangenetik, Westfalische Wilhelms Universitat, Munster, Germany
Am J Med Genet A 140:1257-63. 2006..We also update the clinical outcome of the patients reported in the original article by Bohring et al. [Am J Med Genet 85:438-446] and critically review the subsequently published cases considered to have Bohring-Opitz syndrome...
- Intracranial infantile myofibromatosis with intraparenchymal involvementStuart S Kaplan
Department of Neurological Surgery, Washington University School of Medicine and St Louis Children s Hospital, One Children s Place, Suite 4S20, St Louis, MO 63110, USA
Pediatr Neurosurg 36:214-7. 2002..The patient underwent suboccipital craniotomy and resection of the lesion. This is the first report of the surgical removal of an intraparenchymal infantile myofibroma...