Works by Hoffner, Lori

Results: 10

A novel NLRP7 protein-truncating mutation associated with discordant and divergent p57 immunostaining in diploid biparental and triploid digynic moles.

Published in:

Virchows Archiv: European Journal of Pathology, 2020, v. 477, n. 2, p. 309, doi. 10.1007/s00428-020-02769-w

By:

Allias, Fabienne;
Mechtouf, Nawel;
Gaillot-Durand, Lucie;
Hoffner, Lori;
Hajri, Touria;
Devouassoux-Shisheboran, Mojgan;
Massardier, Jérôme;
Golfier, François;
Bolze, Pierre-Adrien;
Surti, Urvashi;
Slim, Rima

Publication type:

Article

Genomic Characterization of a Metastatic Alveolar Rhabdomyosarcoma Case Using FISH Studies and CGH+SNP Microarray Revealing FOXO1-PAX7 Rearrangement with MYCN and MDM2 Amplification and RB1 Region Loss.

Published in:

Cytogenetic & Genome Research, 2017, v. 150, n. 3/4, p. 253, doi. 10.1159/000458167

By:

Karunamurthy, arivarasan;
Hoffner, Lori;
Hu, Jie;
Shaw, Peter;
Ranganathan, Sarangarajan;
Yatsenko, Svetlana a.;
Surti, Urvashi

Publication type:

Article

Prenatal detection of del(10)(q11.2) mosaicism in chorionic villus specimens likely caused by a common chromosomal fragile site FRA10G is associated with a normal phenotype.

Published in:

Prenatal Diagnosis, 2012, v. 32, n. 12, p. 1166, doi. 10.1002/pd.3977

By:

Liao, Jun;
Sathanoori, Malini;
Yatsenko, Svetlana A.;
Hu, Jie;
Kochmar, Sally J.;
Hoffner, Lori;
Hogge, W. Allen;
Surti, Urvashi

Publication type:

Article

Twin pregnancy with a chimeric androgenetic and biparental placenta in one twin displaying placental mesenchymal dysplasia phenotype.

Published in:

Prenatal Diagnosis, 2005, v. 25, n. 11, p. 1048, doi. 10.1002/pd.1255

By:

Surti, Urvashi;
Hill, Lyndon M.;
Dunn, Jeanette;
Prosen, Tracy;
Hoffner, Lori

Publication type:

Article

Four children with postnatally diagnosed mosaic trisomy 12: Clinical features, literature review, and current diagnostic capabilities of genetic testing.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 813, doi. 10.1002/ajmg.a.61482

By:

Hu, Jie;
Ou, Zhishuo;
Surti, Urvashi;
Kochmar, Sally;
Hoffner, Lori;
Madan‐Khetarpal, Suneeta;
Arnold, Georgianne L.;
Walsh, Leslie;
Acquaro, Roxanne;
Sebastian, Jessica;
Yatsenko, Svetlana A.

Publication type:

Article

Diploid/triploid mixoploidy: A consequence of asymmetric zygotic segregation of parental genomes.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2720, doi. 10.1002/ajmg.a.40646

By:

Carson, Jason C.;
Hoffner, Lori;
Conlin, Laura;
Parks, W. Tony;
Fisher, Rosemary A.;
Spinner, Nancy;
Yatsenko, Svetlana A.;
Bonadio, Jeffrey;
Surti, Urvashi

Publication type:

Article

Prenatal diagnosis of trisomy 6 rescue resulting in paternal UPD6 with novel placental findings.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1996, doi. 10.1002/ajmg.a.34106

By:

Cajaiba, Mariana M.;
Witchel, Selma;
Madan-Khetarpal, Suneeta;
Hoover, Jaqueline;
Hoffner, Lori;
Macpherson, Trevor;
Surti, Urvashi

Publication type:

Article

Whole Exome Sequencing in a Random Sample of North American Women with Leiomyomas Identifies MED12 Mutations in Majority of Uterine Leiomyomas.

Published in:

PLoS ONE, 2012, v. 7, n. 3, p. 1, doi. 10.1371/journal.pone.0033251

By:

McGuire, Megan M.;
Yatsenko, Alexander;
Hoffner, Lori;
Jones, Mirka;
Surti, Urvashi;
Rajkovic, Aleksandar

Publication type:

Article

Deletion of conserved non‐coding sequences downstream from NKX2‐1: A novel disease‐causing mechanism for benign hereditary chorea.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 4, p. 1, doi. 10.1002/mgg3.1647

By:

Liao, Jun;
Coffman, Keith A.;
Locker, Joseph;
Padiath, Quasar S.;
Nmezi, Bruce;
Filipink, Robyn A.;
Hu, Jie;
Sathanoori, Malini;
Madan‐Khetarpal, Suneeta;
McGuire, Marianne;
Schreiber, Allison;
Moran, Rocio;
Friedman, Neil;
Hoffner, Lori;
Rajkovic, Aleksandar;
Yatsenko, Svetlana A.;
Surti, Urvashi

Publication type:

Article

Chromosome 12q13.13q13.13 microduplication and microdeletion: a case report and literature review.

Published in:

2017

By:

Jie Hu;
Zhishuo Ou;
Infante, Elena;
Kochmar, Sally J.;
Madan-Khetarpal, Suneeta;
Hoffner, Lori;
Parsazad, Shafagh;
Surti, Urvashi

Publication type:

Case Study