Published in Pediatrics on September 01, 2006
Cystathionine gamma-Lyase-deficient mice require dietary cysteine to protect against acute lethal myopathy and oxidative injury. J Biol Chem (2010) 1.61
Update in cystic fibrosis 2006. Am J Respir Crit Care Med (2007) 0.93
Recent advances in newborn screening. J Inherit Metab Dis (2007) 0.86
Clinical practice: experience with newborn screening for congenital hypothyroidism in the Republic of Macedonia - a multiethnic country. Eur J Pediatr (2014) 0.79
Energy Expenditure in Chilean Children with Maple Syrup Urine Disease (MSUD). JIMD Rep (2015) 0.75
The incidence of congenital hypothyroidism and its determinants from 2012 to 2014 in Shadegan, Iran: a case-control study. Epidemiol Health (2016) 0.75
Quality performance of newborn screening systems: strategies for improvement. J Inherit Metab Dis (2007) 0.75
Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements. Cell (2011) 3.03
Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families. Invest Ophthalmol Vis Sci (2006) 2.93
Update of newborn screening and therapy for congenital hypothyroidism. Pediatrics (2006) 2.92
Health supervision for children with Down syndrome. Pediatrics (2011) 2.34
Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol (2013) 2.22
Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. Genet Med (2007) 2.20
Long-term hydroxyurea therapy for infants with sickle cell anemia: the HUSOFT extension study. Blood (2005) 1.99
Comprehensive evaluation of the child with intellectual disability or global developmental delays. Pediatrics (2014) 1.97
Epidemiologic and genetic aspects of spina bifida and other neural tube defects. Dev Disabil Res Rev (2010) 1.96
Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations. Hum Genet (2007) 1.94
Spinal lesion level in spina bifida: a source of neural and cognitive heterogeneity. J Neurosurg (2005) 1.89
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. Hum Mutat (2010) 1.88
Significant microbiological effect of inhaled tobramycin in young children with cystic fibrosis. Am J Respir Crit Care Med (2002) 1.70
Newborn screening fact sheets. Pediatrics (2006) 1.62
Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation. Nat Genet (2004) 1.62
Detection of cystic fibrosis transmembrane conductance regulator activity in early-phase clinical trials. Proc Am Thorac Soc (2007) 1.62
American Academy of Pediatrics: Health care supervision for children with Williams syndrome. Pediatrics (2001) 1.56
Nebulized hypertonic saline attenuates acute lung injury following trauma and hemorrhagic shock via inhibition of matrix metalloproteinase-13. Crit Care Med (2012) 1.51
Repeated aerosolized AAV-CFTR for treatment of cystic fibrosis: a randomized placebo-controlled phase 2B trial. Hum Gene Ther (2007) 1.47
Challenges in translating plasma proteomics from bench to bedside: update from the NHLBI Clinical Proteomics Programs. Am J Physiol Lung Cell Mol Physiol (2008) 1.46
Renal function in infants with sickle cell anemia: baseline data from the BABY HUG trial. J Pediatr (2010) 1.43
Craniofacial and acral growth responses in growth hormone-deficient children treated with growth hormone. J Pediatr (2004) 1.40
Outcomes of interest in evidence-based evaluations of genetic tests. Genet Med (2010) 1.30
Biomarkers of splenic function in infants with sickle cell anemia: baseline data from the BABY HUG Trial. Blood (2011) 1.26
Clinical report—health supervision for children with Prader-Willi syndrome. Pediatrics (2010) 1.20
Genetic association study of putative functional single nucleotide polymorphisms of genes in folate metabolism and spina bifida. Am J Obstet Gynecol (2009) 1.12
Trajectories of adherence to airway clearance therapy for patients with cystic fibrosis. J Pediatr Psychol (2010) 1.10
Characteristics of a spina bifida population including North American Caucasian and Hispanic individuals. Birth Defects Res A Clin Mol Teratol (2008) 1.07
Genes in glucose metabolism and association with spina bifida. Reprod Sci (2008) 1.07
Strategic plan for pediatric respiratory diseases research: an NHLBI working group report. Proc Am Thorac Soc (2009) 1.03
Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes. Eur J Hum Genet (2012) 1.03
Regression of subependymal giant cell astrocytoma with rapamycin in tuberous sclerosis complex. J Child Neurol (2008) 1.02
Molecular genetic basis of tuberous sclerosis complex: from bench to bedside. J Child Neurol (2004) 1.01
Expression of the neural stem cell markers NG2 and L1 in human angiomyolipoma: are angiomyolipomas neoplasms of stem cells? Mol Med (2007) 1.01
Chronic kidney disease and albuminuria in children with sickle cell disease. Clin J Am Soc Nephrol (2011) 1.01
Knowledge and beliefs about genetics and smoking among visitors and staff at a health care facility. Public Health Nurs (2008) 0.99
Refining the value of secretory phospholipase A2 as a predictor of acute chest syndrome in sickle cell disease: results of a feasibility study (PROACTIVE). Br J Haematol (2012) 0.99
Brain natriuretic peptide levels in managing pediatric patients with pulmonary arterial hypertension. Chest (2008) 0.99
Heparan sulfate and dermatan sulfate derived disaccharides are sensitive markers for newborn screening for mucopolysaccharidoses types I, II and III. Mol Genet Metab (2012) 0.99
An international randomized multicenter comparison of nasal potential difference techniques. Chest (2010) 0.96
Deletion 12q: a second patient with 12q24.31q24.32 deletion. Am J Med Genet A (2003) 0.96
Cardiovascular and genitourinary anomalies in patients with duplications within the Williams syndrome critical region: phenotypic expansion and review of the literature. Am J Med Genet A (2014) 0.95
Effect of azithromycin on systemic markers of inflammation in patients with cystic fibrosis uninfected with Pseudomonas aeruginosa. Chest (2012) 0.95
Cleft lip and palate: association with other congenital malformations. J Clin Pediatr Dent (2009) 0.93
Obstetrics/gynecology residents' knowledge of hereditary breast and ovarian cancer and Lynch syndrome. J Cancer Educ (2010) 0.93
Association of folate receptor (FOLR1, FOLR2, FOLR3) and reduced folate carrier (SLC19A1) genes with meningomyelocele. Birth Defects Res A Clin Mol Teratol (2010) 0.93
ACOG Committee Opinion No. 383: Evaluation of stillbirths and neonatal deaths. Obstet Gynecol (2007) 0.92
ACOG committee opinion number 399, February 2008: umbilical cord blood banking. Obstet Gynecol (2008) 0.91
Health supervision for children with fragile X syndrome. Pediatrics (2011) 0.91
Frequency of ASCA seropositivity in children with cystic fibrosis. J Pediatr Gastroenterol Nutr (2005) 0.86
The impact of BRCA1 on spina bifida meningomyelocele lesions. Ann Hum Genet (2007) 0.86
An assessment of risk understanding in Hispanic genetic counseling patients. J Genet Couns (2005) 0.86
Genetic evaluation of autism. Semin Pediatr Neurol (2008) 0.85
Practice Bulletin No. 162: Prenatal Diagnostic Testing for Genetic Disorders. Obstet Gynecol (2016) 0.84
Copy number variation analysis implicates the cell polarity gene glypican 5 as a human spina bifida candidate gene. Hum Mol Genet (2012) 0.84
Folic acid awareness and use among women with a history of a neural tube defect pregnancy--Texas, 2000-2001. MMWR Recomm Rep (2002) 0.84
Association of copper-zinc superoxide dismutase (SOD1) and manganese superoxide dismutase (SOD2) genes with nonsyndromic myelomeningocele. Birth Defects Res A Clin Mol Teratol (2012) 0.84
Tracking clinical genetic services for newborns identified through newborn dried bloodspot screening in the United States-lessons learned. J Community Genet (2011) 0.82
Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets. Clin Endocrinol (Oxf) (2011) 0.82
Tuberous sclerosis complex and polycystic kidney disease together: an exception to the contiguous gene syndrome. Genet Med (2006) 0.82
Association of retinoic acid receptor genes with meningomyelocele. Birth Defects Res A Clin Mol Teratol (2010) 0.82
Persistent congenital hyperinsulinism in two patients with Beckwith-Wiedemann syndrome due to mosaic uniparental disomy 11p. J Pediatr Endocrinol Metab (2014) 0.82
Novel single nucleotide polymorphisms in the superoxide dismutase 1 and 2 genes among children with myelomeningocele. Am J Obstet Gynecol (2013) 0.81
Implementing a simpler approach to mission-based planning in a medical school. Acad Med (2005) 0.81
Asymptomatic isolated human glycerol kinase deficiency associated with splice-site mutations and nonsense-mediated decay of mutant RNA. Pediatr Res (2006) 0.81
Pontine tegmental cap dysplasia with a 2q13 microdeletion involving the NPHP1 gene: insights into malformations of the mid-hindbrain. Semin Pediatr Neurol (2010) 0.81
Knowledge and attitudes of Hispanic women and their health care providers about breast cancer risk factors and screening. Community Genet (2002) 0.80
Characterization of six novel patients with MECP2 duplications due to unbalanced rearrangements of the X chromosome. Am J Med Genet A (2012) 0.80
Identification of an X-linked deletion syndrome through comparative genomic hybridization microarray. Semin Pediatr Neurol (2010) 0.80
Cystic fibrosis, pediatrics, control of breathing, pulmonary physiology and anatomy, and surfactant biology in AJRCCM in 2004. Am J Respir Crit Care Med (2005) 0.80
Low adherence to national guidelines for thyroid screening in Down syndrome. Genet Med (2009) 0.80
Therapeutic phlebotomy is safe in children with sickle cell anaemia and can be effective treatment for transfusional iron overload. Br J Haematol (2015) 0.80
Committee Opinion No. 690: Carrier Screening in the Age of Genomic Medicine. Obstet Gynecol (2017) 0.79
A 10 bp deletion polymorphism and 2 new variations in the GLUT1 gene associated with meningomyelocele. Reprod Sci (2010) 0.79
A new synaptic plasticity rule for networks of spiking neurons. IEEE Trans Neural Netw (2006) 0.79
Congenital ocular motor apraxia, the NPHP1 gene, and surveillance for nephronophthisis. J AAPOS (2013) 0.78
Hypotonia, congenital hearing loss, and hypoactive labyrinths. J Child Neurol (2003) 0.78
Tuberous sclerosis complex: disease modifiers and treatments. Curr Opin Pediatr (2008) 0.78
Folate metabolism gene 5,10-methylenetetrahydrofolate reductase (MTHFR) is associated with ADHD in myelomeningocele patients. PLoS One (2012) 0.77
Speech-language characteristics of children with Sotos syndrome. Am J Med Genet A (2005) 0.77
Ontogeny and physiology of the cavum septum pellucidum in premature infants. J Child Neurol (2006) 0.77
Growth hormone benefits children with 18q deletions. Am J Med Genet A (2005) 0.77
Deep sequencing study of the MTHFR gene to identify variants associated with myelomeningocele. Birth Defects Res A Clin Mol Teratol (2012) 0.77
Radioulnar Synostosis and Brain Abnormalities in a Patient With 17q21.31 Microdeletion Involving EFTUD2. Cleft Palate Craniofac J (2014) 0.76
Strategic plan for pediatric respiratory diseases research: an NHLBI working group report. Pediatr Pulmonol (2009) 0.76
Horseshoe kidney and a rare TSC2 variant in two unrelated individuals with tuberous sclerosis complex. Am J Med Genet A (2011) 0.76
Trisomy 20q caused by der(4) t(4;20) (q35;q13.1): report of a new patient and review of the literature. Am J Med Genet (2002) 0.76
Committee Opinion No. 691: Carrier Screening for Genetic Conditions. Obstet Gynecol (2017) 0.75
Editorial comment. Semin Pediatr Neurol (2010) 0.75
Genetic studies of the cystathionine beta-synthase gene and myelomeningocele. Birth Defects Res A Clin Mol Teratol (2011) 0.75
Practical applications of telemedicine for pediatricians. Pediatr Ann (2009) 0.75
Quantitative cranial magnetic resonance imaging in neonatal hypoxic-ischemic encephalopathy. Pediatr Neurol (2012) 0.75
Response to ACMG Practice Guidelines and ACMG Standards and Guidelines, Genetics in Medicine, July 2010, volume 12, number 7, pages 446-463 and 464-470. Genet Med (2010) 0.75
Advances in clinical genetics. Part IV. Introduction. Semin Pediatr Neurol (2008) 0.75
Case report: two patients with oculocerebrocutaneous syndrome and terminal digital amputations. Semin Pediatr Neurol (2008) 0.75