Search Results - "Heard, Patricia L"

High resolution genomic analysis of 18q− using oligo-microarray comparative genomic hybridization (aCGH) by Heard, Patricia L., Carter, Erika M., Crandall, AnaLisa C., Sebold, Courtney, Hale, Daniel E., Cody, Jannine D.

“…The advent of oligonucleotide array comparative genomic hybridization (aCGH) has revolutionized diagnosis of chromosome abnormalities in the genetics clinic…”
Get full text

Narrowing critical regions and determining penetrance for selected 18q- phenotypes by Cody, Jannine D., Heard, Patricia L., Crandall, AnaLisa C., Carter, Erika M., Li, John, Hardies, L. Jean, Lancaster, Jack, Perry, Brian, Stratton, Robert F., Sebold, Courtney, Schaub, Rebecca L., Soileau, Bridgette, Hill, Annice, Hasi, Minire, Fox, Peter T., Hale, Daniel E.

“…One of our primary goals is to help families who have a child with an 18q deletion anticipate medical issues in order to optimize their child's medical care…”
Get full text

A gene dosage map of Chromosome 18: A map with clinical utility by Cody, Jannine D, Carter, Erika M, Sebold, Courtney, Heard, Patricia L, Hale, Daniel E

“…Purpose: Microarray technology has revolutionized the field of clinical genetics with the ability to detect very small copy number changes. However, challenges…”
Get full text

Molecular and clinical characterization of a recurrent cryptic unbalanced t(4q;18q) resulting in an 18q deletion and 4q duplication by Horbinski, Craig, Carter, Erika M., Heard, Patricia L., Sathanoori, Malini, Hu, Jie, Vockley, Jerry, Gunn, Shelly, Hale, Daniel E., Surti, Urvashi, Cody, Jannine D.

“…Recurrent constitutional non‐Robertsonian translocations are very rare. We present the third instance of cryptic, unbalanced translocation between 4q and 18q…”
Get full text

High Resolution Genomic Analysis of 18q― Using Oligo-Microarra Comparative Genomic Hybridization (aCGH) by HEARD, Patricia L, CARTER, Erika M, CRANDALL, Analisa C, SEBOLD, Courtney, HALE, Daniel E, CODY, Jannine D

Get full text