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Elizabeth Berry-Kravis to Child, Preschool

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This is a "connection" page, showing publications Elizabeth Berry-Kravis has written about Child, Preschool.
Elizabeth Berry-Kravis
Connection Strength
2.555
Child, Preschool
  1. Low Risk Profile of Long-Term Repeated Lumbar Puncture for Intrathecal Delivery of 2-Hydroxypropyl-Beta-Cyclodextrin in Patients With Niemann-Pick Type C. Pediatr Neurol. 2023 07; 144:99-103.
    View in: PubMed
    Score: 0.187
  2. Development of Neural Response to Novel Sounds in Fragile X Syndrome: Potential Biomarkers. Am J Intellect Dev Disabil. 2020 11 01; 125(6):449-464.
    View in: PubMed
    Score: 0.157
  3. TECPR2 mutation-associated respiratory dysregulation: more than central apnea. J Clin Sleep Med. 2020 06 15; 16(6):977-982.
    View in: PubMed
    Score: 0.153
  4. Autism Spectrum Disorder in Fragile X Syndrome: Cooccurring Conditions and Current Treatment. Pediatrics. 2017 Jun; 139(Suppl 3):S194-S206.
    View in: PubMed
    Score: 0.124
  5. Cholesterol levels in fragile X syndrome. Am J Med Genet A. 2015 Feb; 167A(2):379-84.
    View in: PubMed
    Score: 0.104
  6. Feasibility, reproducibility, and clinical validity of the pediatric anxiety rating scale-revised for fragile X syndrome. Am J Intellect Dev Disabil. 2014 Jan; 119(1):1-16.
    View in: PubMed
    Score: 0.098
  7. Development of an expressive language sampling procedure in fragile X syndrome: a pilot study. J Dev Behav Pediatr. 2013 May; 34(4):245-51.
    View in: PubMed
    Score: 0.094
  8. Newborn, carrier, and early childhood screening recommendations for fragile X. Pediatrics. 2012 Dec; 130(6):1126-35.
    View in: PubMed
    Score: 0.090
  9. Seizures in fragile X syndrome: characteristics and comorbid diagnoses. Am J Intellect Dev Disabil. 2010 Nov; 115(6):461-72.
    View in: PubMed
    Score: 0.079
  10. Characterization of potential outcome measures for future clinical trials in fragile X syndrome. J Autism Dev Disord. 2008 Oct; 38(9):1751-7.
    View in: PubMed
    Score: 0.066
  11. Changes in growth and seizure reduction in children on the ketogenic diet as a treatment for intractable epilepsy. J Am Diet Assoc. 2005 May; 105(5):718-25.
    View in: PubMed
    Score: 0.054
  12. Epilepsy in fragile X syndrome. Dev Med Child Neurol. 2002 Nov; 44(11):724-8.
    View in: PubMed
    Score: 0.045
  13. Observable Symptoms of Anxiety in Individuals with Fragile X Syndrome: Parent and Caregiver Perspectives. Genes (Basel). 2022 09 16; 13(9).
    View in: PubMed
    Score: 0.045
  14. Independent evaluation of the harvard automated processing pipeline for Electroencephalography 1.0 using multi-site EEG data from children with Fragile X Syndrome. J Neurosci Methods. 2022 04 01; 371:109501.
    View in: PubMed
    Score: 0.043
  15. Design and outcome measures of LAVENDER, a phase 3 study of trofinetide for Rett syndrome. Contemp Clin Trials. 2022 03; 114:106704.
    View in: PubMed
    Score: 0.043
  16. Consistently High Agreement Between Independent Raters of Niemann-Pick Type C1 Clinical Severity Scale in Phase 2/3 Trial. Pediatr Neurol. 2022 02; 127:32-38.
    View in: PubMed
    Score: 0.042
  17. Carnitine levels and the ketogenic diet. Epilepsia. 2001 Nov; 42(11):1445-51.
    View in: PubMed
    Score: 0.042
  18. Normative database of postural sway measures using inertial sensors in typically developing children and young adults. Gait Posture. 2021 10; 90:112-119.
    View in: PubMed
    Score: 0.041
  19. A novel measure of matching categories for early development: Item creation and pilot feasibility study. Res Dev Disabil. 2021 Aug; 115:103993.
    View in: PubMed
    Score: 0.041
  20. Emergence of Developmental Delay in Infants and Toddlers With an FMR1 Mutation. Pediatrics. 2021 05; 147(5).
    View in: PubMed
    Score: 0.041
  21. Spoken language outcome measures for treatment studies in Down syndrome: feasibility, practice effects, test-retest reliability, and construct validity of variables generated from expressive language sampling. J Neurodev Disord. 2021 04 08; 13(1):13.
    View in: PubMed
    Score: 0.041
  22. Improving the Diagnosis of Autism Spectrum Disorder in Fragile X Syndrome by Adapting the Social Communication Questionnaire and the Social Responsiveness Scale-2. J Autism Dev Disord. 2020 Sep; 50(9):3276-3295.
    View in: PubMed
    Score: 0.039
  23. Neurodevelopmental Characterization of Young Children Diagnosed with Niemann-Pick Disease, Type C1. J Dev Behav Pediatr. 2020 Jun/Jul; 41(5):388-396.
    View in: PubMed
    Score: 0.038
  24. Normative database of spatiotemporal gait parameters using inertial sensors in typically developing children and young adults. Gait Posture. 2020 07; 80:206-213.
    View in: PubMed
    Score: 0.038
  25. Psychometric Study of the Social Responsiveness Scale in Phelan-McDermid Syndrome. Autism Res. 2020 08; 13(8):1383-1396.
    View in: PubMed
    Score: 0.038
  26. Validation of the NIH Toolbox Cognitive Battery in intellectual disability. Neurology. 2020 03 24; 94(12):e1229-e1240.
    View in: PubMed
    Score: 0.038
  27. Prenatal testing for late infantile neuronal ceroid lipofuscinosis. Ann Neurol. 2000 Feb; 47(2):254-7.
    View in: PubMed
    Score: 0.037
  28. Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease. Mol Genet Metab. 2020 04; 129(4):292-302.
    View in: PubMed
    Score: 0.037
  29. Mutation update for the SATB2 gene. Hum Mutat. 2019 08; 40(8):1013-1029.
    View in: PubMed
    Score: 0.036
  30. Preventive care services and health behaviors in children with fragile X syndrome. Disabil Health J. 2019 10; 12(4):564-573.
    View in: PubMed
    Score: 0.035
  31. Double-blind, randomized, placebo-controlled study of trofinetide in pediatric Rett syndrome. Neurology. 2019 04 16; 92(16):e1912-e1925.
    View in: PubMed
    Score: 0.035
  32. Volumetric Analysis of the Basal Ganglia and Cerebellar Structures in Patients with Phelan-McDermid Syndrome. Pediatr Neurol. 2019 01; 90:37-43.
    View in: PubMed
    Score: 0.034
  33. Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia. Am J Hum Genet. 2017 Nov 02; 101(5):856-865.
    View in: PubMed
    Score: 0.032
  34. Intrathecal 2-hydroxypropyl-?-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial. Lancet. 2017 Oct 14; 390(10104):1758-1768.
    View in: PubMed
    Score: 0.031
  35. FORWARD: A Registry and Longitudinal Clinical Database to Study Fragile X Syndrome. Pediatrics. 2017 Jun; 139(Suppl 3):S183-S193.
    View in: PubMed
    Score: 0.031
  36. Congenital Central Hypoventilation Syndrome: Neurocognition Already Reduced in Preschool-Aged Children. Chest. 2016 Mar; 149(3):809-15.
    View in: PubMed
    Score: 0.028
  37. Reduced cyclic AMP production in fragile X syndrome: cytogenetic and molecular correlations. Pediatr Res. 1995 Nov; 38(5):638-43.
    View in: PubMed
    Score: 0.028
  38. Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours. Orphanet J Rare Dis. 2015 Aug 25; 10:103.
    View in: PubMed
    Score: 0.027
  39. CDKL5 and ARX mutations in males with early-onset epilepsy. Pediatr Neurol. 2013 May; 48(5):367-77.
    View in: PubMed
    Score: 0.023
  40. MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways. Neurogenetics. 2013 May; 14(2):99-111.
    View in: PubMed
    Score: 0.023
  41. Demonstration of abnormal cyclic AMP production in platelets from patients with fragile X syndrome. Am J Med Genet. 1993 Jan 01; 45(1):81-7.
    View in: PubMed
    Score: 0.023
  42. New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN. Neurology. 2013 Jan 15; 80(3):268-75.
    View in: PubMed
    Score: 0.023
  43. Further characterization of ATP6V0A2-related autosomal recessive cutis laxa. Hum Genet. 2012 Nov; 131(11):1761-73.
    View in: PubMed
    Score: 0.022
  44. Psychometric study of the Aberrant Behavior Checklist in Fragile X Syndrome and implications for targeted treatment. J Autism Dev Disord. 2012 Jul; 42(7):1377-92.
    View in: PubMed
    Score: 0.022
  45. Cyclic AMP metabolism in fragile X syndrome. Ann Neurol. 1992 Jan; 31(1):22-6.
    View in: PubMed
    Score: 0.021
  46. Variable human phenotype associated with novel deletions of the PHOX2B gene. Pediatr Pulmonol. 2012 Feb; 47(2):153-61.
    View in: PubMed
    Score: 0.021
  47. An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management. Am J Respir Crit Care Med. 2010 Mar 15; 181(6):626-44.
    View in: PubMed
    Score: 0.019
  48. Congenital central hypoventilation syndrome from past to future: model for translational and transitional autonomic medicine. Pediatr Pulmonol. 2009 Jun; 44(6):521-35.
    View in: PubMed
    Score: 0.018
  49. Later-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in the PHOX2B gene. Acta Paediatr. 2009 Jan; 98(1):192-5.
    View in: PubMed
    Score: 0.017
  50. Congenital central hypoventilation syndrome: PHOX2B genotype determines risk for sudden death. Pediatr Pulmonol. 2008 Jan; 43(1):77-86.
    View in: PubMed
    Score: 0.016
  51. Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation presenting in childhood. Pediatrics. 2007 Jul; 120(1):e179-88.
    View in: PubMed
    Score: 0.016
  52. Characterization of dermatoglyphics in PHOX2B-confirmed congenital central hypoventilation syndrome. Pediatrics. 2006 Aug; 118(2):e408-14.
    View in: PubMed
    Score: 0.015
  53. Facial phenotype in children and young adults with PHOX2B-determined congenital central hypoventilation syndrome: quantitative pattern of dysmorphology. Pediatr Res. 2006 Jan; 59(1):39-45.
    View in: PubMed
    Score: 0.014
  54. In pursuit (and discovery) of a genetic basis for congenital central hypoventilation syndrome. Respir Physiol Neurobiol. 2005 Nov 15; 149(1-3):73-82.
    View in: PubMed
    Score: 0.014
  55. Adult identified with congenital central hypoventilation syndrome--mutation in PHOX2b gene and late-onset CHS. Am J Respir Crit Care Med. 2005 Jan 01; 171(1):88.
    View in: PubMed
    Score: 0.013
  56. Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b. Am J Med Genet A. 2003 Dec 15; 123A(3):267-78.
    View in: PubMed
    Score: 0.012
  57. X-linked lissencephaly with absent corpus callosum and ambiguous genitalia. Am J Med Genet. 1999 Oct 08; 86(4):331-7.
    View in: PubMed
    Score: 0.009
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Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.