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Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 2, p. 176, doi. 10.1038/ejhg.2011.171
By:
- Nagamani, Sandesh C Sreenath;
- Erez, Ayelet;
- Bay, Carolyn;
- Pettigrew, Anjana;
- Lalani, Seema R;
- Herman, Kristin;
- Graham, Brett H;
- Nowaczyk, Malgorzata JM;
- Proud, Monica;
- Craigen, William J;
- Hopkins, Bobbi;
- Kozel, Beth;
- Plunkett, Katie;
- Hixson, Patricia;
- Stankiewicz, Pawel;
- Patel, Ankita;
- Cheung, Sau Wai
Publication type:
Article
Phenotypic manifestations of copy number variation in chromosome 16p13.11.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 3, p. 280, doi. 10.1038/ejhg.2010.184
By:
- Nagamani, Sandesh C. Sreenath;
- Erez, Ayelet;
- Bader, Patricia;
- Lalani, Seema R.;
- Scott, Daryl A.;
- Scaglia, Fernando;
- Plon, Sharon E.;
- Chun-Hui Tsai;
- Reimschisel, Tyler;
- Roeder, Elizabeth;
- Malphrus, Amy D.;
- Eng, Patricia A.;
- Hixson, Patricia M.;
- Kang, Sung-Hae L.;
- Stankiewicz, Pawel;
- Patel, Ankita;
- Sau Wai Cheung
Publication type:
Article
Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.
Published in:
Human Molecular Genetics, 2011, v. 20, n. 10, p. 1975, doi. 10.1093/hmg/ddr078
By:
- Liu, Pengfei;
- Erez, Ayelet;
- Sreenath Nagamani, Sandesh C.;
- Bi, Weimin;
- Carvalho, Claudia M. B.;
- Simmons, Alexandra D.;
- Wiszniewska, Joanna;
- Fang, Ping;
- Eng, Patricia A.;
- Cooper, M. Lance;
- Sutton, V. Reid;
- Roeder, Elizabeth R.;
- Bodensteiner, John B.;
- Delgado, Mauricio R.;
- Prakash, Siddharth K.;
- Belmont, John W.;
- Stankiewicz, Pawel;
- Berg, Jonathan S.;
- Shinawi, Marwan;
- Patel, Ankita
Publication type:
Article
Complex genomic rearrangement of chromosome 16p13.3 detected by array comparative genomic hybridization in a patient with multiple congenital anomalies, dysmorphic craniofacial features, and developmental delay.
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2589, doi. 10.1002/ajmg.a.34185
By:
- Gu, Jun;
- Sreenath Nagamani, Sandesh C.;
- Hopwood, Vicki L.;
- Sanchez, Beatriz;
- Saeidinejad, Yasaman;
- Ou, Zhishuo;
- Peacock, Sandra;
- Grange, Dorothy K.;
- Stankiewicz, Pawel;
- Cheung, Sau Wai
Publication type:
Article

Found: 4

Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44.

Phenotypic manifestations of copy number variation in chromosome 16p13.11.

Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.

Complex genomic rearrangement of chromosome 16p13.3 detected by array comparative genomic hybridization in a patient with multiple congenital anomalies, dysmorphic craniofacial features, and developmental delay.