Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Urvashi Surti"'
Autor:
David Francis, Yves Sznajer, Lieve Vanwalleghem, Jennifer Kussmann, David A. Bateman, Gael E. Phillips, Scott A. Anderson, Elizabeth K. Fiorino, Przemyslaw Szafranski, Kamilla Schlade-Bartusiak, Neil J. Sebire, Pablo Lapunzina, Maya Chopra, Urvashi Surti, Isabelle Maystadt, Oliver Quarrell, Partha Sen, Jill Slamon, Avinash V. Dharmadhikari, Philippe Moerman, Liesbeth Spruijt, Dick Tibboel, Susan Arbuckle, Glenda Hendson, Jennifer Schuette, Nicole de Leeuw, Melissa Lees, Namasivayam Ambalavanan, Annelies de Klein, Svetlana A. Yatsenko, Joel Reiter, Joseph T. Shieh, Sandra Janssens, Gregory Peters, Jessica Sebastian, David R. Kelly, Eitan Kerem, Janet Lioy, Martina Owens, Gary Tsz Kin Mok, Carlos A. Bacino, Amy S. Lay, Shalini N. Jhangiani, Suneeta Madan-Khetarpal, Björn Menten, Elizabeth Roeder, Kadir C. Akdemir, Denise A. Hayes, Laurie A. Steiner, Taryn C. Rosenthal, Richard Sayers, Fernando Santos-Simarro, Ashley Wilson, Joyce E. Fox, Yoyo W. Y. Chu, Richard Fisher, Rebecca O. Littlejohn, Daynna J. Wolff, Wai Lap Wong, Timothy Thiruchelvam, Kristin Scheible, Zoe Mead, Eileen McKay, M. Anwar Iqbal, Erwin Brosens, Melinda H. Markham, Julián Nevado, Anne Loccufier, Rosanna G. Abellar, Tomasz Gambin, Charles Shaw-Smith, Alison Yeung, Pawel Stankiewicz, Nihal Godiwala, Elfride De Baere, Ilse Feenstra, Diane J. Payton, Girvan Malcolm, María Palomares, Morris Edelman, Claire Langston, Thomas S. DeNapoli, Margaret L. McKinnon, Carol L. Wagner, Brian H.Y. Chung, James R. Lupski, Dawn English, Alison Male, Edwina J. Popek, Frances Elmslie, Jasneek Chawla, Sara Jane Hamilton, Jason Pinner
Publikováno v:
Human Genetics, 135, 5, pp. 569-86
Human Genetics, 135(5), 569-586. Springer-Verlag
Human Genetics, 135, 569-86
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Human Genetics, 135(5), 569-586. Springer-Verlag
Human Genetics, 135, 569-86
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Contains fulltext : 168023.pdf (Publisher’s version ) (Closed access) Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a lethal lung developmental disorder caused by heterozygous point mutations or genomic deletion copy
Autor:
Patricia I. Bader, Allen N. Lamb, Rhonda E. Schnur, Deepti Babu, Jill A. Rosenfeld, Lisa G. Shaffer, Michael L. Netzloff, John S. Bamforth, Beth S. Torchia, Sandra A. Farrell, Raymond C. Tervo, Kristen Hanson, Ryan N. Traylor, Tracy Stroud, Michael Marble, Roger A. Schultz, Dmitriy Niyazov, Shelley Williams, Arthur S. Aylsworth, Susan Sell, Lauren B. Coffey, Michelle Steinraths, J. Britt Ravnan, James J. Filiano, Urvashi Surti, Blake C. Ballif, Aaron Theisen, Marianne McGuire, Roger L. Ladda, Bassem A. Bejjani
Publikováno v:
Human Genetics. 131:145-156
Microdeletions of 1q43q44 result in a recognizable clinical disorder characterized by moderate to severe intellectual disability (ID) with limited or no expressive speech, characteristic facial features, hand and foot anomalies, microcephaly (MIC), a
Publikováno v:
Human Genetics. 72:15-21
In the course of a systematic study of cytogenetics, morphology, and clinical follow-up of hydatidiform moles we encountered two unusual cases of partial hydatidiform moles each with a 92,XXXY karyotype. Previously reported cases of tetraploidy, of 9
Publikováno v:
Human Genetics. 61:145-147
Complete hydatidiform moles contain only paternal chromosomes. To learn more of their origin, we used restriction endonuclease site polymorphisms found in the parental mitochondrial DNAs to demonstrate that moles contain exclusively maternal mitochon
Autor:
Mark Leppert, R.E. Magenis, Michael Litt, E. Kumlin, Linda Bufton, Urvashi Surti, R Sheehy, N. E. Buroker
Publikováno v:
Human Genetics. 76
The polymorphic locus D19S11 consists of four closely linked RFLPs: alpha, beta, delta, and gamma on chromosome 19p13.2----19cen, revealed by subclones p13-1-82 and p13-2-21 from cosmid 1-13. Here, we report that p13-1-25, an additional subclone of c
Publikováno v:
Human genetics. 51(2)
Complete hydatidiform mole is a conceptus without an embryo, with visible general swelling of the placental villi and gross trophoblastic hyperplasia (Szulman and Surti, 1978 a and b). Such moles usually have a 46,XX karyotype, which was reported rec