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- Publications
- Influence
Aneurysm syndromes caused by mutations in the TGF-beta receptor.
- B. Loeys, U. Schwarze, +18 authors H. Dietz
- Medicine
- The New England journal of medicine
- 1 December 2006
BACKGROUND
The Loeys-Dietz syndrome is a recently described autosomal dominant aortic-aneurysm syndrome with widespread systemic involvement. The disease is characterized by the triad of arterial… Expand
Aneurysm Syndromes Caused by Mutations in the TGF-β Receptor
Background The Loeys–Dietz syndrome is a recently described autosomal dominant aortic-aneurysm syndrome with widespread systemic involvement. The disease is characterized by the triad of arterial… Expand
Recurrent 10q22-q23 deletions: a genomic disorder on 10q associated with cognitive and behavioral abnormalities.
- J. Balciuniene, N. Feng, +13 authors S. Selleck
- Biology, Medicine
- American journal of human genetics
- 1 May 2007
Low-copy repeats (LCRs) are genomic features that affect chromosome stability and can produce disease-associated rearrangements. We describe members of three families with deletions in… Expand
Molecular cytogenetic characterization of a subtle interstitial del(3)(p25.3p26.2) in a patient with deletion 3p syndrome.
- C. Cargile, D. L. Goh, +4 authors G. Thomas
- Biology, Medicine
- American journal of medical genetics
- 22 April 2002
Deletion 3p syndrome is associated with characteristic facial features, growth failure, and mental retardation. Typically, individuals with deletion 3p syndrome have terminal deletions that result in… Expand
Deposition of scar tissue in the central nervous system.
- M. Berry, W. Maxwell, +4 authors G. Thomas
- Medicine
- Acta neurochirurgica. Supplementum
- 1983
Standard parasagittal lesions were placed stereotactically in the cerebral hemispheres of neonatal and adult rats in order to compare scarring in the immature and mature animal. Lesions were examined… Expand
3q29 interstitial microduplication: A new syndrome in a three‐generation family
- E. Lisi, A. Hamosh, +5 authors D. Batista
- Biology, Medicine
- American journal of medical genetics. Part A
- 1 March 2008
Microdeletion and microduplication genetic syndromes are known to be a significant cause of developmental delay and dysmorphology. Utilizing high‐resolution chromosome analysis, array CGH and SNP… Expand
Genomic analysis of partial 21q monosomies with variable phenotypes
- Elisha D. Roberson, Elizabeth S Wohler, +6 authors J. Pevsner
- Biology, Medicine
- European Journal of Human Genetics
- 1 February 2011
Partial monosomy 21 was recently segregated into three regions associated with variable clinical severity. We describe 10 new patients, all examined by single nucleotide polymorphism (SNP) genotyping… Expand
Complex chromosome rearrangements:Report of a new case and literature review
- G. Pai, G. Thomas, W. Mahoney, B. Migeon
- Biology, Medicine
- Clinical genetics
- 1 December 1980
A complex and unique, apparently balanced translocation involving three autosomes and an X in a phenotypically abnormal child is described. Family studies using glucose 6 phosphate dehydrogenase as a… Expand
Baseline Neuropsychological Profile and Cognitive Response to Cerebrospinal Fluid Shunting for Idiopathic Normal Pressure Hydrocephalus
- G. Thomas, M. McGirt, +4 authors M. Williams
- Medicine
- Dementia and Geriatric Cognitive Disorders
- 19 August 2005
Objective: To evaluate neurocognitive changes and predict neurocognitive outcome after ventriculoperitoneal shunting for idiopathic normal pressure hydrocephalus (INPH). Background: Reports of… Expand
Cryptic terminal rearrangement of chromosome 22q13.32 detected by FISH in two unrelated patients.
- K. Doheny, H. McDermid, K. Harum, G. Thomas, G. Raymond
- Biology, Medicine
- Journal of medical genetics
- 1 August 1997
Two unrelated patients with cryptic subtelomeric deletions of 22q13.3 were identified using FISH with the commercially available Oncor probe, D22S39. Proband 1 was found to have a derivative… Expand