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Subject Areas on Research
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A 137-kb deletion within the Potocki-Shaffer syndrome interval on chromosome 11p11.2 associated with developmental delay and hypotonia.
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A further case of choanal atresia in the deletion (9p) syndrome.
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A role for maternal serum screening in detecting chromosomal abnormalities in fetuses with isolated choroid plexus cysts: a prospective multicentre study.
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An integrated physical map of 210 markers assigned to the short arm of human chromosome 11.
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Analysis of centromeric activity in Robertsonian translocations: implications for a functional acrocentric hierarchy.
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Breast cancer screening-individualized risk assessment and application of new research technology: non-protein bound estradiol and chromosome analysis.
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Cardiovascular malformations: changes in prevalence and birth status, 1972-1990.
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Characterization of chromosome 17 abnormalities in medulloblastomas.
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Characterization of de novo duplications in eight patients by using fluorescence in situ hybridization with chromosome-specific DNA libraries.
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Choanal atresia and associated anomalies.
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Choanal atresia in a patient with the deletion (9p) syndrome.
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Chromosomal characteristics of childhood brain tumors.
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Chromosomal composition of four permanent cultured cell lines derived from human gliomas.
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Chromosome 16p13.11 Microdeletion Syndrome in a Newborn: A Case Study.
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Chromosome end-to-end associations and telomerase activity during cancer progression in human cells after treatment with alpha-particles simulating radon progeny.
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Clinicopathologic and cytogenic features of CD34 (My 10)-positive acute nonlymphocytic leukemia.
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Congenital ocular defects associated with an abnormality of the human chromosome 1: trisomy 1q32-qter.
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Constitutional rearrangements of chromosome 22 as a cause of neurofibromatosis 2.
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Correlation between selected environmental exposures and karyotype in acute myelocytic leukemia.
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Cytogenetic studies and their clinical correlates in adults with acute leukemia.
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Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment.
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Familial segregation of hemangiomas and vascular malformations as an autosomal dominant trait.
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Fetal echocardiography and fetal cardiology: indications, diagnosis and management.
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Fractionated total-body irradiation and high-dose etoposide as a preparatory regimen for bone marrow transplantation for 94 patients with chronic myelogenous leukemia in chronic phase.
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Genetic heterogeneity for autosomal recessive pyridoxine-dependent seizures.
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Genetic studies in neural tube defects. NTD Collaborative Group.
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Hypodiploidy is associated with a poor prognosis in childhood acute lymphoblastic leukemia.
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Identification of a deletion in the adenosine deaminase gene in a child with severe combined immunodeficiency.
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Identification of genetic defect of an epilepsy: strategies for therapeutic advances.
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Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17.
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Loss of chromosomes 22 and 14 in the malignant progression of meningiomas. A comparative study of fluorescence in situ hybridization (FISH) and standard cytogenetic analysis.
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Management Considerations for Ongoing Pregnancies Complicated by Trisomy 13 and 18.
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Molecular and genetic characterization of a radiation-induced structural rearrangement in mouse chromosome 2 causing mutations at the limb deformity and agouti loci.
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Mortality and morbidity of VLBW infants with trisomy 13 or trisomy 18.
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Mutants of the Drosophila ncd microtubule motor protein cause centrosomal and spindle pole defects in mitosis.
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Partial duplication of 4q12q13 leads to a mild phenotype.
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Possible cellular and molecular mechanisms for asbestos carcinogenicity.
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Prenatal diagnosis of tetrasomy 9p.
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Prenatal diagnosis: essentials for the pediatric surgeon.
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Refining The Society of Thoracic Surgeons Congenital Heart Surgery Database Mortality Risk Model With Enhanced Risk Adjustment for Chromosomal Abnormalities, Syndromes, and Noncardiac Congenital Anatomic Abnormalities.
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Report and abstracts of the sixth international workshop on human chromosome 1 mapping 2000. Iowa City, Iowa, USA. 30 September-3 October 2000.
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Report and abstracts of the third international workshop on human chromosome 1 mapping 1997.
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Report on the Fifth International Workshop on Chromosome 9 held at Eynsham, Oxfordshire, UK, September 4-6, 1996.
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Society for Maternal-Fetal Medicine Consult Series #57: Evaluation and management of isolated soft ultrasound markers for aneuploidy in the second trimester: (Replaces Consults #10, Single umbilical artery, October 2010; #16, Isolated echogenic bowel diagnosed on second-trimester ultrasound, August 2011; #17, Evaluation and management of isolated renal pelviectasis on second-trimester ultrasound, December 2011; #25, Isolated fetal choroid plexus cysts, April 2013; #27, Isolated echogenic intracardiac focus, August 2013).
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Specific chromosomal abnormalities characterize four established cell lines derived from malignant human gliomas.
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Systematic gene mapping in man: data management considerations.
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The association of aneuploidy and unexplained elevated maternal serum alpha-fetoprotein.
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The case of the gray optic disc!
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The evolving picture of microdeletion/microduplication syndromes in the age of microarray analysis: variable expressivity and genomic complexity.
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Three probands with autistic disorder and isodicentric chromosome 15.
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Tiling path resolution mapping of constitutional 1p36 deletions by array-CGH: contiguous gene deletion or "deletion with positional effect" syndrome?
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What are the required components of pre- and post-test counseling?
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Keywords of People