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Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene
Fibrillin is implicate as the protein defective in patients with the Marfan syndrome and a de novo missense mutation in the fibrillin gene is described in two patients with sporadic disease.
Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2.
A homozygous mutation of CNTNAP2 is reported in Old Order Amish children with cortical dysplasia, focal epilepsy, relative macrocephaly, and diminished deep-tendon reflexes, with evidence of abnormalities of neuronal migration and structure, widespread astrogliosis, and reduced expression of CASPR2.
A missense mutation of the endothelin-B receptor gene in multigenic hirschsprung's disease
Type I glutaric aciduria, part 1: Natural history of 77 patients
- K. Strauss, E. Puffenberger, D. Robinson, D. Morton
- GeologyAmerican journal of medical genetics. Part C…
- 15 August 2003
Healing is a matter of time, but it is also amatter of opportunity, and opportunity is that wherein there is no great time.
Diagnosis and treatment of maple syrup disease: a study of 36 patients.
- D. Morton, K. Strauss, D. Robinson, E. Puffenberger, R. Kelley
- Medicine, BiologyPediatrics
- 1 June 2002
OBJECTIVE To evaluate an approach to the diagnosis and treatment of maple syrup disease (MSD). METHODS Family histories and molecular testing for the Y393N mutation of the E1alpha subunit of the…
Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases
The results reveal the power of coupling new genotyping technologies to population-specific genetic knowledge and robust clinical data and show evidence to strongly support the pathogenicity of variants identified in TUBGCP6, BRAT1, SNIP1, CRADD, and HARS.
Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease
- M. Carrasquillo, A. McCallion, E. Puffenberger, C. Kashuk, N. Nouri, A. Chakravarti
- Biology, MedicineNature Genetics
- 1 October 2002
A genome-wide association study in 43 Mennonite family trios using 2,083 microsatellites and single-nucleotide polymorphisms and a new multipoint linkage disequilibrium method finds genetic interaction between mutations in RET and EDNRB is an underlying mechanism for this complex disorder.
Elective Liver Transplantation for the Treatment of Classical Maple Syrup Urine Disease
- K. Strauss, G. Mazariegos, D. Morton
- MedicineAmerican journal of transplantation : official…
- 1 March 2006
An 8.5‐year‐old girl with classical maple syrup urine disease required liver transplantation for hypervitaminosis A and was effectively cured over an 8‐year clinical follow‐up period, documented as a sustained increase in weight‐adjusted leucine tolerance and normalization of plasma concentration relationships among branched‐chain and other essential and nonessential amino acids.
Classical maple syrup urine disease and brain development: principles of management and formula design.
Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22.
A large, inbred, Mennonite kindred which demonstrates a high incidence of Hirschsprung disease is ascertained and preliminary evidence for a genetic modifier of HSCR in this kindred on chromosome 21q22 is revealed.