Works matching AU Surti, Urvashi

Results: 61

Three Supernumerary Marker Chromosomes in a Patient with Developmental Delay,Mental Retardation, and Dysmorphic Features.

Published in:

Genetics Research International, 2011, p. 1, doi. 10.4061/2011/185271

By:

Jie Hu;
Madan-Khetarpal, Suneeta;
Russi, Alvaro H. Serrano;
Kochmar, Sally;
DeWard, Stephanie J.;
Sathanoori, Malini;
Surti, Urvashi

Publication type:

Article

Large-scale genotyping of complex DNA.

Published in:

Nature Biotechnology, 2003, v. 21, n. 10, p. 1233, doi. 10.1038/nbt869

By:

Kennedy, Giulia C.;
Matsuzaki, Hajime;
Shoulian Dong;
Wei-min Liu, Hajime;
Jing Huang;
Guoying Liu, Hajime;
Xing Su, Hajime;
Manqiu Cao, Hajime;
Wenwei Chen, Hajime;
Jane Zhang, Hajime;
Weiwei Liu, Hajime;
Yang, Geoffrey;
Xiaojun Di, Geoffrey;
Ryder, Thomas;
Zhijun He, Thomas;
Surti, Urvashi;
Phillips, Michael S.;
Boyce-Jacino, Michael T.;
Fodor, Stephen P.A.

Publication type:

Article

Giant Cell Arteritis of the Female Genital Tract With Occult Temporal Arteritis and Marginal Zone Lymphoma Harboring Novel 20q Deletion.

Published in:

International Journal of Surgical Pathology, 2016, v. 24, n. 1, p. 78, doi. 10.1177/1066896915605165

By:

Pradhan, Dinesh;
Amin, Rajnikant M.;
Jones, Miroslawa W.;
Surti, Urvashi;
Parwani, Anil V.

Publication type:

Article

Clinicopathologic Features of Histiocytic Lesions Following ALL, with a Review of the Literature.

Published in:

Pediatric & Developmental Pathology, 2010, v. 13, n. 3, p. 225, doi. 10.2350/09-03-0622-OA.1

By:

Castro, Eumenia C. C.;
Blazquez, Cristina;
Boyd, Jaime;
Correa, Herná N.;
De Chadarevian, J-P.;
Felgar, Raymond E.;
Graf, Nicole;
Levy, Norman;
Lowe, Eric J.;
Manning Jr., John T.;
Proytcheva, Maria A.;
Senger, Christof;
Shayan, Katayoon;
Sterba, Jaroslav;
Werner, Alice;
Urvashi Surti;
Jaffe, Ronald

Publication type:

Article

Copy number alterations involving 59 ACMG‐recommended secondary findings genes.

Published in:

Clinical Genetics, 2020, v. 98, n. 6, p. 577, doi. 10.1111/cge.13852

By:

Yatsenko, Svetlana A.;
Aarabi, Mahmoud;
Hu, Jie;
Surti, Urvashi;
Ortiz, Damara;
Madan‐Khetarpal, Suneeta;
Saller, Devereux N.;
Bellissimo, Daniel;
Rajkovic, Aleksandar

Publication type:

Article

Improved assembly and variant detection of a haploid human genome using single‐molecule, high‐fidelity long reads.

Published in:

Annals of Human Genetics, 2020, v. 84, n. 2, p. 125, doi. 10.1111/ahg.12364

By:

Vollger, Mitchell R.;
Logsdon, Glennis A.;
Audano, Peter A.;
Sulovari, Arvis;
Porubsky, David;
Peluso, Paul;
Wenger, Aaron M.;
Concepcion, Gregory T.;
Kronenberg, Zev N.;
Munson, Katherine M.;
Baker, Carl;
Sanders, Ashley D.;
Spierings, Diana C.J.;
Lansdorp, Peter M.;
Surti, Urvashi;
Hunkapiller, Michael W.;
Eichler, Evan E.

Publication type:

Article

Xp11.2 translocation renal cell carcinoma occurring during pregnancy with a novel translocation involving chromosome 19: a case report with review of the literature.

Published in:

Diagnostic Pathology, 2009, v. 4, p. 1, doi. 10.1186/1746-1596-4-15

By:

Armah, Henry B.;
Parwani, Anil V.;
Surti, Urvashi;
Bastacky, Sheldon I.

Publication type:

Article

Chondromyxoid fibroma of rib with a novel chromosomaltranslocation: a report of four additional cases at unusual sites.

Published in:

Diagnostic Pathology, 2007, v. 2, p. 44, doi. 10.1186/1746-1596-2-44

By:

Armah, Henry B.;
McGough, Richard L.;
Goodman, Mark A.;
Gollin, Susanne M.;
Surti, Urvashi;
Parwani, Anil V.;
Rao, Uma N. M.

Publication type:

Article

Discovery of a previously unrecognized microdeletion syndrome of 16p11.2–p12.2.

Published in:

Nature Genetics, 2007, v. 39, n. 9, p. 1071, doi. 10.1038/ng2107

By:

Ballif, Blake C.;
Hornor, Sara A.;
Jenkins, Elizabeth;
Madan-Khetarpal, Suneeta;
Surti, Urvashi;
Jackson, Kelly E.;
Asamoah, Alexander;
Brock, Pamela L.;
Gowans, Gordon C.;
Conway, Robert L.;
Graham Jr., John M.;
Medne, Livija;
Zackai, Elaine H.;
Shaikh, Tamim H.;
Geoghegan, Joel;
Selzer, Rebecca R.;
Eis, Peggy S.;
Bejjani, Bassem A.;
Shaffer, Lisa G.

Publication type:

Article

Med12 gain-of-function mutation causes leiomyomas and genomic instability.

Published in:

Journal of Clinical Investigation, 2015, v. 125, n. 8, p. 3280, doi. 10.1172/JCI81534

By:

Mittal, Priya;
Yong-hyun Shin;
Yatsenko, Svetlana A.;
Castro, Carlos A.;
Surti, Urvashi;
Rajkovic, Aleksandar

Publication type:

Article

Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability.

Published in:

Journal of Clinical Investigation, 2015, v. 125, n. 1, p. 258, doi. 10.1172/jci78473

By:

AlAsiri, Saleh;
Basit, Sulman;
Wood-Trageser, Michelle A.;
Yatsenko, Svetlana A.;
Jeffries, Elizabeth P.;
Surti, Urvashi;
Ketterer, Deborah M.;
Afzal, Sibtain;
Ramzan, Khushnooda;
Haque, Muhammad Faiyaz-UI;
Huaiyang Jiang;
Trakselis, Michael A.;
Rajkovic, Aleksandar

Publication type:

Article

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

Chronic lymphocytic leukemia/small lymphocytic lymphoma: another neoplasm related to the B-cell follicle?

Published in:

Leukemia & Lymphoma, 2015, v. 56, n. 12, p. 3378, doi. 10.3109/10428194.2015.1037759

By:

Tandon, Bevan;
Swerdlow, Steven H.;
Hasserjian, Robert P.;
Surti, Urvashi;
Gibson, Sarah E.

Publication type:

Article

CNTN6 copy number variations in 14 patients: a possible candidate gene for neurodevelopmental and neuropsychiatric disorders.

Published in:

Journal of Neurodevelopmental Disorders, 2015, v. 7, n. 1, p. 1, doi. 10.1186/s11689-015-9122-9

By:

Hu, Jie;
Liao, Jun;
Sathanoori, Malini;
Kochmar, Sally;
Sebastian, Jessica;
Yatsenko, Svetlana;
Surti, Urvashi

Publication type:

Article

Seizure Disorder in a Patient with a 5.09 Mb 7q11.23-q21.11 Microdeletion Including the MAGI2 Gene.

Published in:

2014

By:

Peterson, Jess F.;
Thakur, Pankaj;
Peffer, Abigail;
Kolthoff, Marta;
Kochmar, Sally J.;
Surti, Urvashi

Publication type:

Case Study

The Genomic Landscape of PAX5, IKZF1, and CDKN2A/B Alterations in B-Cell Precursor Acute Lymphoblastic Leukemia.

Published in:

Cytogenetic & Genome Research, 2017, v. 150, n. 3/4, p. 242, doi. 10.1159/000456572

By:

Ou, Zhishuo;
Sherer, Maureen;
Casey, Jane;
Bakos, Heather a.;
Vitullo, Kathleen;
Hu, Jie;
Friehling, Erika;
Gollin, Susanne M.;
Surti, Urvashi;
Yatsenko, Svetlana a.

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 Diagnosis of 2q32 Deletion Syndrome Characterized by Multiple Segmental Deletions and Complex Chromosomal Rearrangement Involving Chromosomes 2, 5 and 7.

Published in:

Fetal Diagnosis & Therapy, 2012, v. 31, n. 3, p. 196, doi. 10.1159/000335650

By:

Thorson, Heidi L.;
Surti, Urvashi;
Sathanoori, Malini;
Kochmar, Sally J.;
Torchia, Beth;
Rajkovic, Aleksandar

Publication type:

Article

Prenatally diagnosed 17q12 microdeletion syndrome with a novel association with congenital diaphragmatic hernia.

Published in:

2012

By:

Hendrix, Nancy W;
Clemens, Michele;
Canavan, Timothy P;
Surti, Urvashi;
Rajkovic, Aleksandar

Publication type:

Journal Article

Prenatally Diagnosed 17q12 Microdeletion Syndrome with a Novel Association with Congenital Diaphragmatic Hernia.

Published in:

Fetal Diagnosis & Therapy, 2012, v. 31, n. 2, p. 129, doi. 10.1159/000332968

By:

Hendrix, Nancy W.;
Clemens, Michele;
Canavan, Timothy P.;
Surti, Urvashi;
Rajkovic, Aleksandar

Publication type:

Article

CD49d shows superior performance characteristics for flow cytometric prognostic testing in chronic lymphocytic leukemia/small lymphocytic lymphoma.

Published in:

Cytometry. Part B, 2018, v. 94, n. 1, p. 129, doi. 10.1002/cyto.b.21384

By:

Gooden, Casey E.;
Jones, Patricia;
Bates, Ruth;
Shallenberger, Wendy M.;
Surti, Urvashi;
Swerdlow, Steven H.;
Roth, Christine G.

Publication type:

Article

Altered neutrophil maturation patterns that limit identification of myelodysplastic syndromes.

Published in:

Cytometry. Part B, 2012, v. 82B, n. 4, p. 217, doi. 10.1002/cyto.b.21016

By:

Monaghan, Sara A.;
Surti, Urvashi;
Doty, Ketah;
Craig, Fiona E.

Publication type:

Article

ZAP-70 and Bcl-2 expression in B lymphoblastic leukemia cells and hematogones.

Published in:

Cytometry. Part B, 2012, v. 82B, n. 2, p. 85, doi. 10.1002/cyto.b.20623

By:

Craig, Fiona E.;
Monaghan, Sara A.;
Surti, Urvashi;
Swerdlow, Steven H.

Publication type:

Article

Terminal 2q deletion-a recognizable syndrome.

Published in:

Clinical Genetics, 1997, v. 51, n. 4, p. 290, doi. 10.1111/j.1399-0004.1997.tb02475.x

By:

Wenger, Sharon L.;
Boone, Leslie Y.;
Surti, Urvashi;
Steele, Mark W.

Publication type:

Article

EWSR1-CREB1 is the predominant gene fusion in angiomatoid fibrous histiocytoma.

Published in:

Genes, Chromosomes & Cancer, 2007, v. 46, n. 12, p. 1051, doi. 10.1002/gcc.20491

By:

Antonescu, Cristina R.;
Dal Cin, Paola;
Nafa, Khedoudja;
Teot, Lisa A.;
Surti, Urvashi;
Fletcher, Christopher D.;
Ladanyi, Marc

Publication type:

Article

Genomic alterations in uterine leiomyosarcomas: Potential markers for clinical diagnosis and prognosis.

Published in:

Genes, Chromosomes & Cancer, 2001, v. 31, n. 2, p. 117, doi. 10.1002/gcc.1125

By:

Hu, Jie;
Khanna, Vineesh;
Jones, Mirka;
Surti, Urvashi

Publication type:

Article

Two discrete regions of deletion at 7q in uterine leiomyomas.

Published in:

Genes, Chromosomes & Cancer, 1997, v. 19, n. 3, p. 156, doi. 10.1002/(SICI)1098-2264(199707)19:3<156::AID-GCC4>3.0.CO;2-X

By:

Ishwad, Chandramohan S.;
Ferrell, Robert E.;
Hanley, Karen;
Davare, Jayant;
Meloni, Auvelia M.;
Sandberg, Avery 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

Discovery of epigenetic biomarkers for the noninvasive diagnosis of fetal disease.

Published in:

Prenatal Diagnosis, 2012, v. 32, n. 6, p. 542, doi. 10.1002/pd.3853

By:

Bunce, Kimberly;
Chu, Tianjiao;
Surti, Urvashi;
Hogge, William Allen;
Peters, David G.

Publication type:

Article

A microarray-based approach for the identification of epigenetic biomarkers for the noninvasive diagnosis of fetal disease.

Published in:

Prenatal Diagnosis, 2009, v. 29, n. 11, p. 1020, doi. 10.1002/pd.2335

By:

Chu, Tianjiao;
Burke, Brian;
Bunce, Kimberly;
Surti, Urvashi;
Allen Hogge, W.;
Peters, David G.

Publication type:

Article

Variable outcomes in mosaic trisomy 16: five case reports and literature analysis.

Published in:

Prenatal Diagnosis, 2006, v. 26, n. 5, p. 454, doi. 10.1002/pd.1437

By:

Neiswanger, Katherine;
Hohler, Paul M.;
Hively-Thomas, Lori B.;
McPherson, Elizabeth W.;
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

Steroid-resistant nephrotic syndrome and congenital anomalies of kidneys: evidence of locus on chromosome 13q.

Published in:

2003

By:

Vats, Abhay N.;
Ishwad, Chandra;
Vats, Kalyani R.;
Moritz, Michael;
Ellis, Demetrius;
Mueller, Christine;
Surti, Urvashi;
Parizhskaya, Maria Z.;
Meza, Manuel P.;
Burke, Leah;
Schneck, Francis X.;
Saxena, Malika;
Ferrell, Robert

Publication type:

journal article

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.

Published in:

Human Genetics, 2016, v. 135, n. 5, p. 569, doi. 10.1007/s00439-016-1655-9

By:

Szafranski, Przemyslaw;
Gambin, Tomasz;
Dharmadhikari, Avinash;
Akdemir, Kadir;
Jhangiani, Shalini;
Schuette, Jennifer;
Godiwala, Nihal;
Yatsenko, Svetlana;
Sebastian, Jessica;
Madan-Khetarpal, Suneeta;
Surti, Urvashi;
Abellar, Rosanna;
Bateman, David;
Wilson, Ashley;
Markham, Melinda;
Slamon, Jill;
Santos-Simarro, Fernando;
Palomares, María;
Nevado, Julián;
Lapunzina, Pablo

Publication type:

Article

High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.

Published in:

Human Genetics, 2012, v. 131, n. 1, p. 145, doi. 10.1007/s00439-011-1073-y

By:

Ballif, Blake;
Rosenfeld, Jill;
Traylor, Ryan;
Theisen, Aaron;
Bader, Patricia;
Ladda, Roger;
Sell, Susan;
Steinraths, Michelle;
Surti, Urvashi;
McGuire, Marianne;
Williams, Shelley;
Farrell, Sandra;
Filiano, James;
Schnur, Rhonda;
Coffey, Lauren;
Tervo, Raymond;
Stroud, Tracy;
Marble, Michael;
Netzloff, Michael;
Hanson, Kristen

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

Beyond Down syndrome phenotype: Paternally derived isodicentric chromosome 21 with partial monosomy 21q22.3.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 12, p. 3153, doi. 10.1002/ajmg.a.38497

By:

Putra, Manesha;
Surti, Urvashi;
Hu, Jie;
Steele, Deana;
Clemens, Michele;
Saller, Devereux N.;
Yatsenko, Svetlana A.;
Rajkovic, Aleksandar

Publication type:

Article

Genotype-phenotype correlation and pregnancy outcomes of partial trisomy 14q: A systematic review.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2365, doi. 10.1002/ajmg.a.37793

By:

Bregand‐White, Julia;
Saller, Devereux N.;
Clemens, Michele;
Surti, Urvashi;
Yatsenko, Svetlana A.;
Rajkovic, Aleksandar

Publication type:

Article

A novel maternally inherited 8q24.3 and a rare paternally inherited 14q23.3 CNVs in a family with neurodevelopmental disorders.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1921, doi. 10.1002/ajmg.a.37110

By:

Hu, Jie;
Sathanoori, Malini;
Kochmar, Sally;
Azage, Meron;
Mann, Susan;
Madan‐Khetarpal, Suneeta;
Goldstein, Amy;
Surti, Urvashi

Publication type:

Article

Craniofacial abnormalities and developmental delay in two families with overlapping 22q12.1 microdeletions involving the MN1 gene.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 1047, doi. 10.1002/ajmg.a.36839

By:

Beck, Megan;
Peterson, Jess F.;
McConnell, Juliann;
McGuire, Marianne;
Asato, Miya;
Losee, Joseph E.;
Surti, Urvashi;
Madan‐Khetarpal, Suneeta;
Rajkovic, Aleksandar;
Yatsenko, Svetlana A.

Publication type:

Article

Absence of skeletal anomalies in siblings with a maternally inherited 12q13.13-q13.2 microdeletion partially involving the HOXC gene cluster.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 810, doi. 10.1002/ajmg.a.36359

By:

Peterson, Jess F.;
Hartman, Jessica;
Ghaloul‐Gonzalez, Lina;
Surti, Urvashi;
Hu, Jie

Publication type:

Article

Familial microduplication of 17q23.1-q23.2 involving TBX4 is associated with congenital clubfoot and reduced penetrance in females.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 364, doi. 10.1002/ajmg.a.36238

By:

Peterson, Jess F.;
Ghaloul‐Gonzalez, Lina;
Madan‐Khetarpal, Suneeta;
Hartman, Jessica;
Surti, Urvashi;
Rajkovic, Aleksandar;
Yatsenko, Svetlana A.

Publication type:

Article

Co-existence of 9p deletion and Silver-Russell syndromes in a patient with maternally inherited cryptic complex chromosome rearrangement involving chromosomes 4, 9, and 11.

Published in:

American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 179, doi. 10.1002/ajmg.a.35658

By:

Hu, Jie;
Sathanoori, Malini;
Kochmar, Sally;
Madan‐Khetarpal, Suneeta;
McGuire, Marianne;
Surti, Urvashi

Publication type:

Article

A small homozygous microdeletion of 15q13.3 including the CHRNA7 gene in a girl with a spectrum of severe neurodevelopmental features.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2795, doi. 10.1002/ajmg.a.34237

By:

Liao, Jun;
DeWard, Stephanie J.;
Madan-Khetarpal, Suneeta;
Surti, Urvashi;
Hu, Jie

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

Response to Drs. Stöllberger and Finsterer 'Noncompaction Is Already Known in DiGeorge Anomaly From 22q11.2 Deletion Syndrome'.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 664, doi. 10.1002/ajmg.a.33704

By:

Madan, Shobhit;
Madan-Khetarpal, Suneeta;
Park, Sang C.;
Surti, Urvashi;
Bailey, Ariel L.;
McConnell, Juliann;
Tadros, Sameh S.

Publication type:

Article

Expression and trafficking of placental microRNAs at the feto-maternal interface.

Published in:

FASEB Journal, 2017, v. 31, n. 7, p. 2760, doi. 10.1096/fj.201601146R

By:

Guojing Chang;
Mouillet, Jean-François;
Takuya Mishima;
Tianjiao Chu;
Sadovsky, Elena;
Coyne, Carolyn B.;
Parks, W. Tony;
Surti, Urvashi;
Sadovsky, Yoel

Publication type:

Article

The use of interphase FISH for prenatal diagnosis of Pallister-Killian syndrome.

Published in:

1997

By:

MOWERY-RUSHTON, PATRICIA A.;
STADLER, MONA P.;
KOCHMAR, SALLY J.;
McPHERSON, ELIZABETH;
SURTI, URVASHI;
ALLEN HOGGE, W.;
Mowery-Rushton, P A;
Stadler, M P;
Kochmar, S J;
McPherson, E;
Surti, U;
Hogge, W A

Publication type:

journal article

PRENATAL DIAGNOSIS OF UNIPARENTAL DISOMY 15 FOLLOWING TRISOMY 15 MOSAICISM.

Published in:

Prenatal Diagnosis, 1996, v. 16, n. 4, p. 323, doi. 10.1002/(SICI)1097-0223(199604)16:4<323::AID-PD856>3.0.CO;2-5

By:

CHRISTIAN, SUSAN L.;
SMITH, ANN C. M.;
MACHA, MICHELLE;
BLACK, SUSAN H.;
ELDER, FREDERICK F. B.;
JOHNSON, JAMIE M.-P.;
RESTA, ROBERT G.;
SURTI, URVASHI;
SUSLAK, LORRAINE;
VERP, MARION S.;
LEDBETTER, DAVID H.

Publication type:

Article