Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta

WA Cabral, W Chang, AM Barnes, MA Weis, MA Scott… - Nature …, 2007 - nature.com
A recessive form of severe osteogenesis imperfecta that is not caused by mutations in type I
collagen has long been suspected. Mutations in human CRTAP (cartilage-associated …

Preoperative evaluation and comprehensive risk assessment for children with D own syndrome

AF Lewanda, A Matisoff, M Revenis… - Pediatric …, 2016 - Wiley Online Library
Down syndrome is a common chromosome disorder affecting all body systems. This creates
unique physiologic concerns that can affect safety during anesthesia and surgery. Little …

Best practices in managing transition to adulthood for adolescents with congenital heart disease: the transition process and medical and psychosocial issues: a …

C Sable, E Foster, K Uzark, K Bjornsen, MM Canobbio… - Circulation, 2011 - Am Heart Assoc
Although the primary responsibility for discussion of sexuality and reproductive issues
should fall to the primary care physician, the cardiologist may have more frequent visits with …

Holoprosencephaly due to numeric chromosome abnormalities

BD Solomon, KN Rosenbaum… - American Journal of …, 2010 - Wiley Online Library
Holoprosencephaly (HPE) is the most common malformation of the human forebrain. When
a clinician identifies a patient with HPE, a routine chromosome analysis is often the first …

Autism and genetic disorders

AL Reiss, C Feinstein, KN Rosenbaum - Schizophrenia Bulletin, 1986 - academic.oup.com
The syndrome of autism has been documented as occurring in association with a wide
variety of genetic conditions. Autistic patients with a coexistent genetic condition, however …

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

JJ Johnston, JC Sapp, JT Turner, D Amor… - Human …, 2010 - Wiley Online Library
A range of phenotypes including Greig cephalopolysyndactyly and Pallister‐Hall syndromes
(GCPS, PHS) are caused by pathogenic mutation of the GLI3 gene. To characterize the …

Lovastatin as treatment for neurocognitive deficits in neurofibromatosis type 1: phase I study

MT Acosta, PG Kardel, KS Walsh, KN Rosenbaum… - Pediatric …, 2011 - Elsevier
In a neurofibromatosis type 1 murine model, treatment with lovastatin reversed cognitive
disabilities. We report on a phase I study examining the safety and tolerability of lovastatin in …

Further clinical and molecular delineation of the 15q24 microdeletion syndrome

HC Mefford, JA Rosenfeld, N Shur… - Journal of medical …, 2012 - jmg.bmj.com
Background Chromosome 15q24 microdeletion syndrome is a rare genomic disorder
characterised by intellectual disability, growth retardation, unusual facial morphology and …

Handheld optical coherence tomography during sedation in young children with optic pathway gliomas

RA Avery, EI Hwang, H Ishikawa, MT Acosta… - JAMA …, 2014 - jamanetwork.com
Importance Monitoring young children with optic pathway gliomas (OPGs) for visual
deterioration can be difficult owing to age-related noncompliance. Optical coherence …

[HTML][HTML] Quantitative dysmorphology assessment in Fabry disease

M Ries, DF Moore, CJ Robinson, CJ Tifft… - Genetics in …, 2006 - nature.com
Purpose: 1) To identify morphometric characteristics in hemizygous patients with Fabry
disease a treatable lysosomal storage disorder caused by the deficiency of α-galactosidase …