Published in Am J Med Genet A on August 01, 2006
Mosaic trisomy 17: variable clinical and cytogenetic presentation. Am J Med Genet A (2011) 0.87
Constitutional and acquired autosomal aneuploidy. Clin Lab Med (2011) 0.77
Rare case of live born with confirmed mosaic trisomy 17 and review of the literature. Clin Case Rep (2016) 0.75
Recurrent gain of chromosomes 17q and 12 in cultured human embryonic stem cells. Nat Biotechnol (2003) 9.15
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nat Genet (2006) 5.92
Three-dimensional maps of all chromosomes in human male fibroblast nuclei and prometaphase rosettes. PLoS Biol (2005) 4.33
Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss. Nat Genet (2011) 3.97
Exercise and pharmacological treatment of depressive symptoms in patients with coronary heart disease: results from the UPBEAT (Understanding the Prognostic Benefits of Exercise and Antidepressant Therapy) study. J Am Coll Cardiol (2012) 3.19
A model for building a standardized hand-off protocol. Jt Comm J Qual Patient Saf (2006) 3.02
Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet (2007) 2.81
Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1. Hum Mutat (2009) 2.81
Effects of the DASH diet alone and in combination with exercise and weight loss on blood pressure and cardiovascular biomarkers in men and women with high blood pressure: the ENCORE study. Arch Intern Med (2010) 2.58
Both donor and recipient origins of smooth muscle cells in vein graft atherosclerotic lesions. Circ Res (2002) 2.25
Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions. Hum Mol Genet (2003) 2.25
Human embryonic stem cells derived without feeder cells. Lancet (2005) 2.24
Smooth muscle cells in transplant atherosclerotic lesions are originated from recipients, but not bone marrow progenitor cells. Circulation (2002) 2.02
Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21. Eur J Hum Genet (2008) 1.90
Targeted inactivation of p53 in human cells does not result in aneuploidy. Cancer Res (2002) 1.86
Embryonic and extraembryonic stem cell lines derived from single mouse blastomeres. Nature (2005) 1.86
Multipotent mesenchymal stem cells from human placenta: critical parameters for isolation and maintenance of stemness after isolation. Am J Obstet Gynecol (2009) 1.84
Teaching internal medicine residents quality improvement techniques using the ABIM's practice improvement modules. J Gen Intern Med (2008) 1.75
Growth charts for nose length, nasal protrusion, and philtrum length from birth to 97 years. Am J Med Genet (2002) 1.65
Gene expression profiling of formalin-fixed, paraffin-embedded familial breast tumours using the whole genome-DASL assay. J Pathol (2010) 1.52
The Curriculum for the Hospitalized Aging Medical Patient program: a collaborative faculty development program for hospitalists, general internists, and geriatricians. J Hosp Med (2008) 1.51
Quantitative 1-step DNA methylation analysis with native genomic DNA as template. Clin Chem (2010) 1.48
Characterization of Salmonella enterica derivatives harboring defined aroC and Salmonella pathogenicity island 2 type III secretion system (ssaV) mutations by immunization of healthy volunteers. Infect Immun (2002) 1.47
Maternal vitamin K deficient embryopathy: association with hyperemesis gravidarum and Crohn disease. Am J Med Genet A (2013) 1.46
Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux. Am J Hum Genet (2004) 1.45
Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuria. Am J Med Genet A (2013) 1.43
Myelodysplastic/myeloproliferative disease with erythropoietic hyperplasia (erythroid preleukemia) and the unique translocation (8;9)(p23;p24): first description of a case. Hum Pathol (2005) 1.43
Isolation and characterization of novel rhesus monkey embryonic stem cell lines. Stem Cells (2006) 1.41
Analysis of RAD51C germline mutations in high-risk breast and ovarian cancer families and ovarian cancer patients. Hum Mutat (2011) 1.38
Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6). Eur Heart J (2011) 1.37
APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex. Nature (2010) 1.35
Airway glucose concentrations and effect on growth of respiratory pathogens in cystic fibrosis. J Cyst Fibros (2006) 1.30
Natural history of rhizomelic chondrodysplasia punctata. Am J Med Genet A (2003) 1.27
Computer-facilitated substance use screening and brief advice for teens in primary care: an international trial. Pediatrics (2012) 1.25
Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300. J Med Genet (2007) 1.23
The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals. Am J Med Genet C Semin Med Genet (2012) 1.23
Fetal magnetic resonance imaging of the central nervous system: a pictorial essay. Eur Radiol (2002) 1.22
Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome. Am J Hum Genet (2012) 1.21
Majewski osteodysplastic primordial dwarfism type II (MOPD II): natural history and clinical findings. Am J Med Genet A (2004) 1.20
Stillbirth classification--developing an international consensus for research: executive summary of a National Institute of Child Health and Human Development workshop. Obstet Gynecol (2009) 1.20
BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects. Eur J Hum Genet (2009) 1.15
An update on ECARUCA, the European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations. Eur J Med Genet (2013) 1.13
Coronary artery disease in a Werner syndrome-like form of progeria characterized by low levels of progerin, a splice variant of lamin A. Am J Med Genet A (2011) 1.13
Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation. Am J Hum Genet (2011) 1.13
Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10. Hum Mutat (2011) 1.12
SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders. Hum Mutat (2005) 1.11
MR autopsy in fetuses. Fetal Diagn Ther (2002) 1.11
Risks of pregnancy and birth in obese primiparous women: an analysis of German perinatal statistics. Arch Gynecol Obstet (2010) 1.10
Ultrasonographic fetal weight estimation: accuracy of formulas and accuracy of examiners by birth weight from 500 to 5000 g. J Perinat Med (2004) 1.08
Glucocorticoid resistance in two key models of acute lymphoblastic leukemia occurs at the level of the glucocorticoid receptor. FASEB J (2006) 1.08
The relationship between fractures and DXA measures of BMD in the distal femur of children and adolescents with cerebral palsy or muscular dystrophy. J Bone Miner Res (2010) 1.06
Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations. Am J Med Genet A (2005) 1.04
Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability. Eur J Hum Genet (2013) 1.04
Inherited ichthyoses/generalized Mendelian disorders of cornification. Eur J Hum Genet (2012) 1.02
Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss. Am J Hum Genet (2012) 1.02
Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia. Hum Mutat (2010) 1.00
Filaggrin mutations p.R501X and c.2282del4 in ichthyosis vulgaris. Eur J Hum Genet (2006) 0.99
Characterization of interstitial Xp duplications in two families by tiling path array CGH. Am J Med Genet A (2008) 0.99
Cyclin E dysregulation and chromosomal instability in endometrial cancer. Oncogene (2004) 0.99
Characterization of a newly identified ETV6-NTRK3 fusion transcript in acute myeloid leukemia. Diagn Pathol (2011) 0.99
Self identity through Ho'oponopono as adjunctive therapy for hypertension management. Ethn Dis (2007) 0.98
Effects of the dietary approaches to stop hypertension diet alone and in combination with exercise and caloric restriction on insulin sensitivity and lipids. Hypertension (2010) 0.98
Long-term follow-up of four patients with Langer-Giedion syndrome: clinical course and complications. Am J Med Genet A (2013) 0.97
Yellow teeth, seizures, and mental retardation: a less severe case of Kohlschütter-Tönz syndrome. Am J Med Genet A (2006) 0.97
Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations. Hum Mutat (2006) 0.97
What do pediatric primary care providers think are important research questions? A perspective from PROS providers. Ambul Pediatr (2006) 0.97
Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15. Genome Res (2010) 0.97
Spondylometaphyseal dysplasia with cone-rod dystrophy. Am J Med Genet A (2004) 0.96
DLL3 as a candidate gene for vertebral malformations. Am J Med Genet A (2006) 0.95
Tetrasomy 12pter-12p13.31 in a girl with partial Pallister-Killian syndrome phenotype. Eur J Med Genet (2005) 0.95
A missense T (Brachyury) mutation contributes to vertebral malformations. J Bone Miner Res (2008) 0.95
Molecular characterization of a de novo ring chromosome 6 in a growth retarded but otherwise healthy woman. Am J Med Genet A (2008) 0.95
Evaluating the genomic and sequence integrity of human ES cell lines; comparison to normal genomes. Stem Cell Res (2011) 0.94
A genome-wide association study of caffeine-related sleep disturbance: confirmation of a role for a common variant in the adenosine receptor. Sleep (2012) 0.94
Cardiomyopathy in newborns and infants: a broad spectrum of aetiologies and poor prognosis. Acta Paediatr (2008) 0.93
Thirty-two new cases with small supernumerary marker chromosomes detected in connection with fertility problems: detailed molecular cytogenetic characterization and review of the literature. Int J Mol Med (2008) 0.93
Recurrence risk in de novo structural chromosomal rearrangements. Am J Med Genet A (2007) 0.93
Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism. Mol Cytogenet (2012) 0.93
Association of anxiety and depression with pulmonary-specific symptoms in chronic obstructive pulmonary disease. Int J Psychiatry Med (2013) 0.92
Array-based comparative genomic hybridization (aCGH) in the genetic evaluation of stillbirth. Am J Med Genet A (2009) 0.92
Bone measurements by peripheral quantitative computed tomography (pQCT) in children with cerebral palsy. J Pediatr (2005) 0.91
E2F3a is critically involved in epidermal growth factor receptor-directed proliferation in ovarian cancer. Cancer Res (2010) 0.90
Beckwith-Wiedemann syndrome in adults: observations from one family and recommendations for care. Am J Med Genet A (2008) 0.90
Your diagnosis? Umbilical cord tumor. Eur J Pediatr (2006) 0.89
Moyamoya angiopathy with dolichoectatic internal carotid arteries, patent ductus arteriosus and pupillary dysfunction: a new genetic syndrome? Eur Neurol (2004) 0.89
Long-term follow-up of a 26-year-old male with duplication of 16p: clinical report and review. Am J Med Genet A (2007) 0.88