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Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome
The human cDNA and genomic characterization of a new homeobox gene, RIEG, causing Rieger syndrome is reported, providing opportunities for understanding ocular, dental and umbilical development and the pleiotropic interactions of pituitary and limb morphogenesis.
Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome
- R. Toydemir, Ann Rutherford, F. Whitby, L. Jorde, J. Carey, M. Bamshad
- BiologyNature Genetics
- 16 April 2006
It is shown that mutations in the embryonic myosin heavy chain (MYH3) gene cause Freeman-Sheldon syndrome, one of the most severe multiple congenital contracture syndromes, and nearly one-third of all cases of Sheldon-Hall syndrome, the most common distal arthrogryposis.
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B
The genomic structure of NIPBL is characterized and it is found that it is widely expressed in fetal and adult tissues and facilitates enhancer-promoter communication and regulates Notch signaling and other developmental pathways in Drosophila melanogaster.
The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2.
The diagnostic criteria for neurofibromatosis 1 and neurof fibromaatosis 2, recommendations for the care of patients and their families at diagnosis and during routine follow-up, and the role of DNA diagnostic testing in the evaluation of these disorders are determined.
Further Delineation of Deletion 1p36 Syndrome in 60 Patients: A Recognizable Phenotype and Common Cause of Developmental Delay and Mental Retardation
These 60 patients with deletion 1p36 represent the largest clinical series to date and provide new information on several aspects of this disorder, which is characterized by neurodevelopmental disability and a recognizable pattern of malformation.
Association between Bacterial Vaginosis and Preterm Delivery of a Low-Birth-Weight Infant
The women with bacterial vaginosis were more likely to be unmarried, to be black, to have low incomes, and to have previously delivered low-birth-weight infants.
Xq28-linked noncompaction of the left ventricular myocardium: prenatal diagnosis and pathologic analysis of affected individuals.
Genetic linkage analysis has localized INVM to the Xq28 region, where other myopathies with cardiac involvement have been located.
Children and Adolescents with Neurofibromatosis 1: A Behavioral Phenotype
- C. Dilts, J. Carey, E. Clark
- Psychology, MedicineJournal of developmental and behavioral…
- 1 August 1996
Children with NF1 were found to be less competent on measures of cognitive, language, and motor development,Visual-spatial judgment, visual-motor integration, and academic achievement, and recommendations for preventative interventions are proposed.
Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics.
A Consensus Conference utilizing available literature and expert opinion sponsored by the American College of Medical Genetics in October 1995 evaluated the rational approach to the individual with…
Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes.
- Sandy S Sung, Anna-Marie E Brassington, M. Bamshad
- BiologyAmerican journal of human genetics
- 1 March 2003
It is reported that DA2B is caused by mutations in TNNI2 that are predicted to disrupt the carboxy-terminal domain of an isoform of troponin I specific to the Troponin-tropomyosin (Tc-Tm) complex of fast-twitch myofibers.