L. Hoffner

发表

Cytogenetic and histologic correlation of peripheral nerve sheath tumors of soft tissue.

U. Surti, U. Rao, K. Yaw, 1996, Cancer genetics and cytogenetics.

Genetics and biology of human ovarian teratomas. I. Cytogenetic analysis and mechanism of origin.

U. Surti, A. Chakravarti, R. Ferrell, 1990, American journal of human genetics.

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

U. Surti, S. Ranganathan, S. Yatsenko, 2017, Cytogenetic and Genome Research.

P57KIP2 immunostaining and molecular cytogenetics: combined approach aids in diagnosis of morphologically challenging cases with molar phenotype and in detecting androgenetic cell lines in mosaic/chimeric conceptions.

U. Surti, N. Esposito, T. Macpherson, 2008, Human pathology.

The genetics of gestational trophoblastic disease: a rare complication of pregnancy.

U. Surti, L. Hoffner, 2012, Cancer genetics.

Comprehensive analysis of 204 sporadic hydatidiform moles: revisiting risk factors and their correlations with the molar genotypes

U. Surti, T. Sahoo, R. Slim, 2019, Modern Pathology.

Maternal GRB10 microdeletion is a novel cause of cystic placenta: Spectrum of genomic changes in the etiology of enlarged cystic placenta.

U. Surti, D. Bellissimo, W. Parks, 2017, Placenta.

Cytogenetic Markers in Selected Gynecological Malignancies

U. Surti, L. Hoffner, 1997 .

Comprehensive genotype–phenotype correlations between NLRP7 mutations and the balance between embryonic tissue differentiation and trophoblastic proliferation

U. Surti, M. Seoud, R. Slim, 2014, Journal of Medical Genetics.

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

U. Surti, S. Witchel, T. Macpherson, 2011, American journal of medical genetics. Part A.

Phenotypic association of 15q11.2 CNVs of the region of breakpoints 1–2 (BP1–BP2) in a large cohort of samples referred for genetic diagnosis

U. Surti, E. Cook, Z. Ou, 2018, Journal of Human Genetics.

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

U. Surti, A. Rajkovic, A. Yatsenko, 2012, PloS one.

Cytogenetics and origins of pediatric germ cell tumors.

U. Surti, A. Chakravarti, R. Deka, 1994, Cancer genetics and cytogenetics.

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

U. Surti, N. Spinner, W. Parks, 2018, American journal of medical genetics. Part A.

Sacral tumors in Schinzel-Giedion syndrome.

U. Surti, E. McPherson, M. Clemens, 1998, American journal of medical genetics.

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

U. Surti, A. Rajkovic, J. Locker, 2021, Molecular genetics & genomic medicine.

Paternal origins of complete hydatidiform moles proven by whole genome single-nucleotide polymorphism haplotyping.

Pui-Yan Kwok, Urvashi Surti, Jian-Bing Fan, 2002, Genomics.

Genetics and biology of human ovarian teratomas. III. Cytogenetics and origins of malignant ovarian germ cell tumors.

U. Surti, A. Chakravarti, S. Shen‐Schwarz, 1992, Cancer genetics and cytogenetics.

NLRP7 in the spectrum of reproductive wastage: rare non-synonymous variants confer genetic susceptibility to recurrent reproductive wastage

N. M. Lau, U. Surti, J. Engert, 2011, Journal of Medical Genetics.

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

U. Surti, R. Slim, P. Bolze, 2020, Virchows Archiv.

Recurrent triploid and dispermic conceptions in patients with NLRP7 mutations.

U. Surti, R. Slim, A. Ao, 2011, Placenta.

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

U. Surti, L. Hill, L. Hoffner, 2005, Prenatal diagnosis.

Simultaneous detection of imprinted gene expression (p57(KIP2)) and molecular cytogenetics (FICTION) in the evaluation of molar pregnancies.

U. Surti, S. Swerdlow, W. Parks, 2010, The Journal of reproductive medicine.

Persistent Gestational Trophoblastic Disease After an Androgenetic/Biparental Fetal Chimera: A Case Report and Review

U. Surti, T. Macpherson, L. Hoffner, 2006, International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists.

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

U. Surti, W. A. Hogge, S. Yatsenko, 2012, Prenatal diagnosis.

The origin of trisomy 13

U. Surti, P. Jacobs, T. Hassold, 2007, American journal of medical genetics. Part A.

Complex X chromosome rearrangement delineated by array comparative genome hybridization in a woman with premature ovarian insufficiency.

U. Surti, A. Rajkovic, L. Hoffner, 2011, Fertility and sterility.

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

U. Surti, Z. Ou, Elena Infante, 2017, Molecular Cytogenetics.

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

U. Surti, Z. Ou, S. Yatsenko, 2020, American journal of medical genetics. Part A.

The origin of trisomy 22: Evidence for acrocentric chromosome‐specific patterns of nondisjunction

U. Surti, E. Feingold, T. Hassold, 2007, American journal of medical genetics. Part A.

Squamous cell carcinoma in situ arising in an ovarian mature cystic teratoma. Report of one case with histopathologic, cytogenetic, and flow cytometric DNA content analysis.

U. Surti, G. Naus, L. Hoffner, 1991, Archives of pathology & laboratory medicine.

Maternal GRB10 microdeletion is a novel cause of cystic placenta: Spectrum of genomic changes in the etiology of enlarged cystic placenta.

U. Surti, D. Bellissimo, S. Yatsenko, 2017, Placenta.