Genetics of craniosynostosis

V Kimonis, JA Gold, TL Hoffman, J Panchal… - Seminars in pediatric …, 2007 - Elsevier
Craniosynostosis is a defect of the skull caused by early fusion of one or more of the cranial
sutures and affects 3 to 5 individuals per 10,000 live births. Craniosynostosis can be divided …

Nutritional phases in Prader–Willi syndrome

JL Miller, CH Lynn, DC Driscoll… - American journal of …, 2011 - Wiley Online Library
Prader–Willi syndrome (PWS) is a complex neurobehavioral condition which has been
classically described as having two nutritional stages: poor feeding, frequently with failure to …

Molecular genetic classification in Prader-Willi syndrome: a multisite cohort study

MG Butler, SN Hartin, WA Hossain… - Journal of medical …, 2019 - jmg.bmj.com
Background Prader-Willi syndrome (PWS) is due to errors in genomic imprinting. PWS is
recognised as the most common known genetic cause of life-threatening obesity. This report …

Oxytocin treatment in children with Prader–Willi syndrome: A double‐blind, placebo‐controlled, crossover study

JL Miller, R Tamura, MG Butler… - American journal of …, 2017 - Wiley Online Library
Prader–Willi syndrome (PWS) is a rare, complex multisystem genetic disorder which
includes hypothalamic dysfunction, hyperphagia, cognitive and behavioral problems …

Growth charts for non-growth hormone treated Prader-Willi syndrome

MG Butler, J Lee, AM Manzardo, JA Gold, JL Miller… - …, 2015 - publications.aap.org
OBJECTIVE: The goal of this study was to generate and report standardized growth curves
for weight, height, head circumference, and BMI for non–growth hormone–treated white …

Contributing factors of mortality in Prader–Willi syndrome

J Proffitt, K Osann, B McManus… - American journal of …, 2019 - Wiley Online Library
Prader–Willi syndrome (PWS) is a multi‐system disorder resulting from a lack of paternal
gene expression in the 15q11. 2‐q13 region. Using databases compiled through response …

Mitochondrial dysfunction in CA1 hippocampal neurons of the UBE3A deficient mouse model for Angelman syndrome

H Su, W Fan, PE Coskun, J Vesa, JA Gold, YH Jiang… - Neuroscience …, 2011 - Elsevier
Angelman syndrome (AS) is a severe neurological disorder caused by a deficiency of
ubiquitin protein ligase E3A (UBE3A), but the pathophysiology of the disease remains …

Growth standards of infants with Prader-Willi syndrome

MG Butler, J Sturich, J Lee, SE Myers, BY Whitman… - …, 2011 - publications.aap.org
OBJECTIVE: To generate and report standardized growth curves for weight, length, head
circumference, weight/length, and BMI for non–growth hormone–treated white infants (boys …

Is gestation in Prader-Willi syndrome affected by the genetic subtype?

MG Butler, J Sturich, SE Myers, JA Gold… - Journal of assisted …, 2009 - Springer
Abstract Background Prader-Willi syndrome (PWS) is a complex genetic disorder with errors
in genomic imprinting, generally due to a paternal deletion of chromosome 15q11-q13 …

Growth charts for Prader-Willi syndrome during growth hormone treatment

MG Butler, J Lee, DM Cox, AM Manzardo… - Clinical …, 2016 - journals.sagepub.com
The purpose of the current study was to develop syndrome-specific standardized growth
curves for growth hormone–treated Prader-Willi syndrome (PWS) individuals aged 0 to 18 …