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Novel homozygous ENPP1 mutation causes generalized arterial calcifications of infancy, thrombocytopenia, and cardiovascular and central nervous system syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 2112, doi. 10.1002/ajmg.a.61334
By:
- Staretz‐Chacham, Orna;
- Shukrun, Rachel;
- Barel, Ortal;
- Pode‐Shakked, Ben;
- Pleniceanu, Oren;
- Anikster, Yair;
- Shalva, Nechama;
- Ferreira, Carlos R.;
- Ben‐Haim Kadosh, Admit;
- Richardson, Justin;
- Mane, Shrikant M.;
- Hildebrandt, Friedhelm;
- Vivante, Asaf
Publication type:
Article
Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome.
Published in:
Nature Genetics, 2013, v. 45, n. 5, p. 531, doi. 10.1038/ng.2590
By:
- Lemaire, Mathieu;
- Frémeaux-Bacchi, Véronique;
- Schaefer, Franz;
- Choi, Murim;
- Tang, Wai Ho;
- Le Quintrec, Moglie;
- Fakhouri, Fadi;
- Taque, Sophie;
- Nobili, François;
- Martinez, Frank;
- Ji, Weizhen;
- Overton, John D;
- Mane, Shrikant M;
- Nürnberg, Gudrun;
- Altmüller, Janine;
- Thiele, Holger;
- Morin, Denis;
- Deschenes, Georges;
- Baudouin, Véronique;
- Llanas, Brigitte
Publication type:
Article
Whole-exome sequencing characterizes the landscape of somatic mutations and copy number alterations in adrenocortical carcinoma.
Published in:
2015
By:
- Juhlin, C Christofer;
- Goh, Gerald;
- Healy, James M;
- Fonseca, Annabelle L;
- Scholl, Ute I;
- Stenman, Adam;
- Kunstman, John W;
- Brown, Taylor C;
- Overton, John D;
- Mane, Shrikant M;
- Nelson-Williams, Carol;
- Bäckdahl, Martin;
- Suttorp, Anna-Carinna;
- Haase, Matthias;
- Choi, Murim;
- Schlessinger, Joseph;
- Rimm, David L;
- Höög, Anders;
- Prasad, Manju L;
- Korah, Reju
Publication type:
journal article
Clonal evolution analysis of paired anaplastic and well‐differentiated thyroid carcinomas reveals shared common ancestor.
Published in:
Genes, Chromosomes & Cancer, 2018, v. 57, n. 12, p. 645, doi. 10.1002/gcc.22678
By:
- Dong, Weilai;
- Nicolson, Norman G.;
- Choi, Jungmin;
- Barbieri, Andrea L.;
- Kunstman, John W.;
- Abou Azar, Sara;
- Knight, James;
- Bilguvar, Kaya;
- Mane, Shrikant M.;
- Lifton, Richard P.;
- Korah, Reju;
- Carling, Tobias
Publication type:
Article
Modest Impact on Risk for Autism Spectrum Disorder of Rare Copy Number Variants at 15 q11.2, Specifically Breakpoints 1 to 2.
Published in:
Autism Research: Official Journal of the International Society for Autism Research, 2014, v. 7, n. 3, p. 355, doi. 10.1002/aur.1378
By:
- Chaste, Pauline;
- Sanders, Stephan J.;
- Mohan, Kommu N.;
- Klei, Lambertus;
- Song, Youeun;
- Murtha, Michael T.;
- Hus, Vanessa;
- Lowe, Jennifer K.;
- Willsey, A. Jeremy;
- Moreno‐De‐Luca, Daniel;
- Yu, Timothy W.;
- Fombonne, Eric;
- Geschwind, Daniel;
- Grice, Dorothy E.;
- Ledbetter, David H.;
- Lord, Catherine;
- Mane, Shrikant M.;
- Martin, Donna M.;
- Morrow, Eric M.;
- Walsh, Christopher A.
Publication type:
Article
RAS gene activation in acute myelogenous leukemia: Analysis by in vitro amplification and dna base sequence determination.
Published in:
Genes, Chromosomes & Cancer, 1990, v. 2, n. 1, p. 71, doi. 10.1002/gcc.2870020113
By:
- Mane, Shrikant M.;
- Meltzer, Stephen J.;
- Gutheil, John C.;
- Kapil, Vikram;
- Lee, Edward J.;
- Needleman, Samuel W.
Publication type:
Article
Common genetic variants, acting additively, are a major source of risk for autism.
Published in:
Molecular Autism, 2012, v. 3, n. 1, p. 1, doi. 10.1186/2040-2392-3-9
By:
- Klei, Lambertus;
- Sanders, Stephan J.;
- Murtha, Michael T.;
- Hus, Vanessa;
- Lowe, Jennifer K.;
- Jeremy Willsey, A.;
- Moreno-De-Luca, Daniel;
- Yu, Timothy W.;
- Fombonne, Eric;
- Geschwind, Daniel;
- Grice, Dorothy E.;
- Ledbetter, David H.;
- Lord, Catherine;
- Mane, Shrikant M.;
- Martin, Christa Lese;
- Martin, Donna M.;
- Morrow, Eric M.;
- Walsh, Christopher A.;
- Melhem, Nadine M.;
- Chaste, Pauline
Publication type:
Article
Small bowel carcinoid (enterochromaffin cell) neoplasia exhibits transforming growth factor-beta1-mediated regulatory abnormalities including up-regulation of C-Myc and MTA1.
Published in:
2007
By:
- Kidd, Mark;
- Modlin, Irvin M.;
- Pfragner, Roswitha;
- Eick, Geeta N.;
- Champaneria, Manish C.;
- Chan, Anthony K.;
- Camp, Robert L.;
- Mane, Shrikant M.
Publication type:
journal article
Utility of molecular genetic signatures in the delineation of gastric neoplasia.
Published in:
2006
By:
- Kidd, Mark;
- Modlin, Irvin M;
- Mane, Shrikant M;
- Camp, Robert L;
- Eick, Geeta N;
- Latich, Igor;
- Zikusoka, Michelle N
Publication type:
journal article
Utility of molecular genetic signatures in the delineation of gastric neoplasia.
Published in:
Cancer (0008543X), 2006, v. 106, n. 7, p. 1480
By:
- Mark Kidd;
- Irvin M. Modlin;
- Shrikant M. Mane;
- Robert L. Camp;
- Geeta N. Eick;
- Igor Latich;
- Michelle N. Zikusoka
Publication type:
Article
Microsatellite instability and gene mutations in transforming growth factor-beta type II receptor are absent in small bowel carcinoid tumors.
Published in:
Cancer (0008543X), 2005, v. 103, n. 2, p. 229
By:
- Mark Kidd;
- Geeta Eick;
- Michael D. Shapiro;
- Robert L. Camp;
- Shrikant M. Mane;
- Irvin M. Modlin
Publication type:
Article
Whole-Exome Sequencing Reveals Somatic Mutations in HRAS and KRAS, which Cause Nevus Sebaceus.
Published in:
Journal of Investigative Dermatology, 2013, v. 133, n. 3, p. 827, doi. 10.1038/jid.2012.379
By:
- Levinsohn, Jonathan L;
- Tian, Li C;
- Boyden, Lynn M;
- McNiff, Jennifer M;
- Narayan, Deepak;
- Loring, Erin S;
- Yun, Duri;
- Sugarman, Jeffrey L;
- Overton, John D;
- Mane, Shrikant M;
- Lifton, Richard P;
- Paller, Amy S;
- Wagner, Annette M;
- Antaya, Richard J;
- Choate, Keith A
Publication type:
Article
Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children.
Published in:
Pediatric Nephrology, 2019, v. 34, n. 9, p. 1607, doi. 10.1007/s00467-019-04256-0
By:
- Vivante, Asaf;
- Chacham, Orna Staretz;
- Shril, Shirlee;
- Schreiber, Ruth;
- Mane, Shrikant M.;
- Pode-Shakked, Ben;
- Soliman, Neveen A.;
- Koneth, Irene;
- Schiffer, Mario;
- Anikster, Yair;
- Hildebrandt, Friedhelm
Publication type:
Article
Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 2, p. 397, doi. 10.1093/hmg/ddt429
By:
- Lim, Young H.;
- Ovejero, Diana;
- Sugarman, Jeffrey S.;
- DeKlotz, Cynthia M.C.;
- Maruri, Ann;
- Eichenfield, Lawrence F.;
- Kelley, Patrick K.;
- Jüppner, Harald;
- Gottschalk, Michael;
- Tifft, Cynthia J.;
- Gafni, Rachel I.;
- Boyce, Alison M.;
- Cowen, Edward W.;
- Bhattacharyya, Nisan;
- Guthrie, Lori C.;
- Gahl, William A.;
- Golas, Gretchen;
- Loring, Erin C.;
- Overton, John D.;
- Mane, Shrikant M.
Publication type:
Article
Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities.
Published in:
Nature, 2012, v. 482, n. 7383, p. 98, doi. 10.1038/nature10814
By:
- Boyden, Lynn M.;
- Choi, Murim;
- Choate, Keith A.;
- Nelson-Williams, Carol J.;
- Farhi, Anita;
- Toka, Hakan R.;
- Tikhonova, Irina R.;
- Bjornson, Robert;
- Mane, Shrikant M.;
- Colussi, Giacomo;
- Lebel, Marcel;
- Gordon, Richard D.;
- Semmekrot, Ben A.;
- Poujol, Alain;
- Välimäki, Matti J.;
- De Ferrari, Maria E.;
- Sanjad, Sami A.;
- Gutkin, Michael;
- Karet, Fiona E.;
- Tucci, Joseph R.
Publication type:
Article
Whole-Exome Sequencing of Germline Variants in Non- BRCA Families with Hereditary Breast Cancer.
Published in:
Biomedicines, 2022, v. 10, n. 5, p. 1004, doi. 10.3390/biomedicines10051004
By:
- Liu, Yaxuan;
- Helgadottir, Hafdis T.;
- Kharaziha, Pedram;
- Choi, Jungmin;
- López-Giráldez, Francesc;
- Mane, Shrikant M.;
- Höiom, Veronica;
- Juhlin, Carl Christofer;
- Larsson, Catharina;
- Bajalica-Lagercrantz, Svetlana
Publication type:
Article
Predicting Neuroendocrine Tumor (Carcinoid) Neoplasia Using Gene Expression Profiling and Supervised Machine Learning.
Published in:
Cancer (0008543X), 2009, v. 115, n. 8, p. 1638, doi. 10.1002/cncr.24180
By:
- Drozdov, Ignat;
- Kidd, Mark;
- Nadler, Boaz;
- Camp, Robert L.;
- Mane, Shrikant M.;
- Hauso, Oyvind;
- Gustafsson, Bjorn I.;
- Modlin, Irvin M.
Publication type:
Article
Rapid identification of disease-causing mutations using copy number analysis within linkage intervals.
Published in:
Human Mutation, 2007, v. 28, n. 12, p. 1236, doi. 10.1002/humu.20592
By:
- Bayrakli, Fatih;
- Bilguvar, Kaya;
- Mason, Christopher E.;
- DiLuna, Michael L.;
- Bayri, Yasar;
- Gungor, Levent;
- Terzi, Murat;
- Mane, Shrikant M.;
- Lifton, Richard P.;
- State, Matthew W.;
- Gunel, Murat
Publication type:
Article

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