Research Topics
| Fred GilbertSummaryAffiliation: Cornell University Country: USA Publications
| Collaborators
|
Detail Information
Publications
Cystic fibrosis carrier screening: steps in the development of a mutation panelF Gilbert
Genetics Pediatrics, Weill Medical College of Cornell University, 1300 York Avenue, New York, NY 10021, USA
Genet Test 5:223-7. 2001..Data is presented to indicate that an expanded pan-ethnic mutation panel, containing at least 47 mutations, would provide significantly greater CF-carrier identification in the ethnically diverse U.S. population...
Disease genes and chromosomes: disease maps of the human genome. Chromosome 4D Goldfrank
Genetics, Weill Medical College of Cornell University, New York, NY 10021, USA
Genet Test 7:351-72. 2003
Chromosome 5R Siddiqi
Weill Medical College of Cornell University, New York, NY 10021, USA
Genet Test 7:169-87. 2003
Criteria for newborn screeningFred Gilbert
Division of Genetics/Box 53, Weill Medical College of Cornell University, New York, NY 10021, USA
Genet Test 7:37-8. 2003
Chromosome 6Fred Gilbert
Weill Medical College of Cornell University, New York, NY 10021, USA
Genet Test 6:341-58. 2002
Editor's comment: colon cancer carrier screening enters the genetic testing arenaFred Gilbert
Genetics, Weill Medical College of Cornell University, New York, NY 10021, USA
Genet Test 6:271-2. 2002
Chromosome 7Fred Gilbert
Genetics/Box 93, Weill Medical College of Cornell University, New York, NY 10021, USA
Genet Test 6:141-61. 2002
Questions raised by BRCA1/2-carrier screening programsFred Gilbert
Genet Test 6:71-4. 2002
Correlation between rare chromosomal abnormalities and prenatal ultrasound findingsHuda B Al-Kouatly
Department of Obstetrics and Gynecology, New York Hospital Weill Medical College of Cornell University, New York, New York 10021, USA
Am J Med Genet 107:197-200. 2002..Even with normal ultrasound findings, abnormalities may be present. These data may assist in counseling patients when testing reveals such chromosomal abnormalities...
Allelic imbalance in selected chromosomal regions in ovarian cancerLise Lotte Hansen
Department of Human Genetics, The Bartholin Building, University of Aarhus, DK 8000 C, Aarhus, Denmark
Cancer Genet Cytogenet 139:1-8. 2002..2 approximately q24.3. In this article, we report three new polymorphic microsatellite markers and strong evidence of AL of narrow well-defined regions in hot spots on 6q, 13q, and 16q in ovarian tumors...
A proposed role for consumers and the general public as consumers of health care in community-wide genetic testingFred Gilbert
Genet Test 6:23-4. 2002
Frequent LOH at hMLH1, a highly variable SNP in hMSH3, and negligible coding instability in ovarian cancerIordanis I Arzimanoglou
Department of Obstetrics Gynecology, Weill Medical College of Cornell University, New York, NY 10021, USA
Anticancer Res 22:969-75. 2002..In the present study, we aimed at detecting molecular alterations within the mismatch DNA repair genes in ovarian cancer (OC), using a sensitive, accurate and reliable protocol we have developed...
Preimplantation genetic diagnosis of human congenital heart malformation and Holt-Oram syndromeJie He
Department of Medicine, Weill Medical College of Cornell University, The New York-Presbyterian Hospital, New York, New York 10021, USA
Am J Med Genet A 126:93-8. 2004..Clinical application of PGD must balance the benefits of avoiding disease transmission with the medical risks and financial burdens of IVF...
TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndromeDeborah A McDermott
Department of Medicine, Weill Medical College of Cornell University, New York, New York 10021, USA
Pediatr Res 58:981-6. 2005..Accordingly, TBX5 genotyping has high sensitivity and specificity for HOS if stringent diagnostic criteria are used in assigning the clinical diagnosis...
