Affiliation: Kaiser Permanente
- Recurrent adjacent-2 segregation of a familial t(14;21)(q11.2;q11.2): phenotypic comparison of two brothers and a paternal aunt inheriting the der(14)Emily Chen
Department of Genetics, Kaiser Permanente Medical Group, Oakland, CA 94611, USA
Am J Med Genet A 132:164-70. 2005..This family is an example of recurrent malsegregation with translocations involving the acrocentrics...
- Cytogenetic and array CGH characterization of de novo 1p36 duplications and deletion in a patient with congenital cataracts, hearing loss, choanal atresia, and mental retardationEmily Chen
Department of Genetics, Kaiser Medical Center, San Jose, California, USA
Am J Med Genet A 146:2785-90. 2008....
- Ring chromosome 15: characterization by array CGHIan A Glass
Department of Pediatrics, University of Washington, M2 9, 4800 Sand Point Way NE, Seattle, 98105, USA
Hum Genet 118:611-7. 2006..These cases illustrate the utility of array CGH characterization for determining the size of the associated deletion in ring chromosomes and for facilitating phenotype-genotype correlations...
- Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotypePrateek A Gupta
Department of Internal Medicine, University of Texas Houston Medical School, Houston, Texas, USA
Hum Mutat 19:39-48. 2002..These studies have implications for our understanding of the molecular basis of CCA, along with the diagnosis and genetic counseling of CCA patients...
- A novel frameshift mutation of FOXC2 gene in a family with hereditary lymphedema-distichiasis syndrome associated with renal disease and diabetes mellitusCagri Yildirim-Toruner
Department of Microbiology and Molecular Genetics, UMDNJ, Newark, New Jersey 07103, USA
Am J Med Genet A 131:281-6. 2004..This novel phenotype, LD/renal disease/type 2 diabetes, might be the result of a combination of the nt 1006--1007 insA and the upstream UTR homozygous T polymorphism...