Search Results - "Surti U"

Patient with partial mole requiring chemotherapy.

Authors: Szulman, A E Surti, U Berman, M

Source: Lancet. 11/18/1978, Vol. 2 Issue 8099, p1099-1099. 1p.

High-resolution microarray analysis unravels complex Xq28 aberrations in patients and carriers affected by X-linked blue cone monochromacy.

Authors: Yatsenko, S.A. Bakos, H.A. Vitullo, K. et al.

Source: Clinical Genetics. Jan2016, Vol. 89 Issue 1, p82-87. 6p.

Application of chromosomal microarray in the evaluation of abnormal prenatal findings.

Authors: Yatsenko, SA Davis, S Hendrix, NW et al.

Source: Clinical Genetics. Jul2013, Vol. 84 Issue 1, p47-54. 8p. 1 Diagram, 2 Charts.

Comparative study of primary and recurrent ovarian serous carcinomas: comparative genomic hybridization analysis with a potential application for prognosis

Authors: Hu, J. Khanna, V. Jones, M.W. et al.

Source: Gynecologic Oncology. Jun2003, Vol. 89 Issue 3, p369. 7p.

Complex chromosome lesion delineated by array CGH in a woman with primary ovarian insufficiency

Authors: Ochalski, M.E. Wakim, A.N.G. Rajkovic, A. et al.

Source: Fertility & Sterility. Sep2010 Supplement, Vol. 94 Issue 4, pS41-S41. 1p.

The complete sequence of a human genome.

Authors: Nurk S Koren S Rhie A et al.

Source: Science (New York, N.Y.) [Science] 2022 Apr; Vol. 376 (6588), pp. 44-53. Date of Electronic Publication: 2022 Mar 31.

Publication Type: Journal Article; Research Support, N.I.H., Intramural; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.

Journal Info: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 0404511 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-9203 (Electronic) Linking ISSN: 00368075 NLM ISO Abbreviation: Science Subsets: MEDLINE

Genomic regions associated with microdeletion/microduplication syndromes exhibit extreme diversity of structural variation.

Authors: Mostovoy Y Yilmaz F Chow SK et al.

Source: Genetics [Genetics] 2021 Feb 09; Vol. 217 (2).

Publication Type: Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: Oxford University Press Country of Publication: United States NLM ID: 0374636 Publication Model: Print Cited Medium: Internet ISSN: 1943-2631 (Electronic) Linking ISSN: 00166731 NLM ISO Abbreviation: Genetics Subsets: MEDLINE

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

Authors: Yatsenko SA Aarabi M Hu J et al.

Source: Clinical genetics [Clin Genet] 2020 Dec; Vol. 98 (6), pp. 577-588. Date of Electronic Publication: 2020 Oct 10.

Publication Type: Journal Article

Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

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

Authors: Allias F Mechtouf N Gaillot-Durand L et al.

Source: Virchows Archiv : an international journal of pathology [Virchows Arch] 2020 Aug; Vol. 477 (2), pp. 309-315. Date of Electronic Publication: 2020 Feb 13.

Publication Type: Journal Article

Journal Info: Publisher: Springer International Country of Publication: Germany NLM ID: 9423843 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-2307 (Electronic) Linking ISSN: 09456317 NLM ISO Abbreviation: Virchows Arch Subsets: MEDLINE

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

Authors: Hu J Ou Z Surti U et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2020 Apr; Vol. 182 (4), pp. 813-822. Date of Electronic Publication: 2020 Jan 08.

Publication Type: Case Reports; Journal Article; Review

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

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

Authors: Vollger MR Logsdon GA Audano PA et al.

Source: Annals of human genetics [Ann Hum Genet] 2020 Mar; Vol. 84 (2), pp. 125-140. Date of Electronic Publication: 2019 Nov 11.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0416661 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-1809 (Electronic) Linking ISSN: 00034800 NLM ISO Abbreviation: Ann Hum Genet Subsets: MEDLINE

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

Authors: Carson JC Hoffner L Conlin L et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2018 Dec; Vol. 176 (12), pp. 2720-2732. Date of Electronic Publication: 2018 Oct 10.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

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

Authors: Gooden CE Jones P Bates R et al.

Source: Cytometry. Part B, Clinical cytometry [Cytometry B Clin Cytom] 2018 Jan; Vol. 94 (1), pp. 129-135. Date of Electronic Publication: 2016 Jun 27.

Publication Type: Journal Article

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 101235690 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4957 (Electronic) Linking ISSN: 15524949 NLM ISO Abbreviation: Cytometry B Clin Cytom Subsets: MEDLINE

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

Authors: Putra M Surti U Hu J et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2017 Dec; Vol. 173 (12), pp. 3153-3157. Date of Electronic Publication: 2017 Oct 19.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

A protein-truncating mutation in CCNB3 in a patient with recurrent miscarriages and failure of meiosis I.

Authors: Rezaei M Buckett W Bareke E et al.

Source: Journal of medical genetics [J Med Genet] 2022 Jun; Vol. 59 (6), pp. 568-570. Date of Electronic Publication: 2021 May 21.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

Reproductive outcomes in individuals with chromosomal reciprocal translocations.

Authors: Verdoni A Hu J Surti U et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Sep; Vol. 23 (9), pp. 1753-1760. Date of Electronic Publication: 2021 May 10.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

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

Authors: Chang G Mouillet JF Mishima T et al.

Source: FASEB journal : official publication of the Federation of American Societies for Experimental Biology [FASEB J] 2017 Jul; Vol. 31 (7), pp. 2760-2770. Date of Electronic Publication: 2017 Mar 13.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Federation of American Societies for Experimental Biology Country of Publication: United States NLM ID: 8804484 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-6860 (Electronic) Linking ISSN: 08926638 NLM ISO Abbreviation: FASEB J Subsets: MEDLINE

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

Authors: Bregand-White J Saller DN Clemens M et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2016 Sep; Vol. 170 (9), pp. 2365-71. Date of Electronic Publication: 2016 Jun 10.

Publication Type: Journal Article; Systematic Review

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.

Authors: Szafranski P Gambin T Dharmadhikari AV et al.

Source: Human genetics [Hum Genet] 2016 May; Vol. 135 (5), pp. 569-586. Date of Electronic Publication: 2016 Apr 12.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

Giant Cell Arteritis of the Female Genital Tract With Occult Temporal Arteritis and Marginal Zone Lymphoma Harboring Novel 20q Deletion: A Case Report and Literature Review.

Authors: Pradhan D Amin RM Jones MW et al.

Source: International journal of surgical pathology [Int J Surg Pathol] 2016 Feb; Vol. 24 (1), pp. 78-84. Date of Electronic Publication: 2015 Sep 09.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Sage Publications Country of Publication: United States NLM ID: 9314927 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1940-2465 (Electronic) Linking ISSN: 10668969 NLM ISO Abbreviation: Int J Surg Pathol Subsets: MEDLINE