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Items: 1 to 20 of 52

1.
Exome-First Approach in Fetal Akinesia Reveals Chromosome 1p36 Deletion Syndrome
Masatake Toshimitsu, Shinichi Nagaoka, Shuusaku Kobori, Maki Ogawa, Fumihiko Suzuki, Takema Kato, Shunsuke Miyai, Rie Kawamura, Hidehito Inagaki, Hiroki Kurahashi, Jun Murotsuki
Case Rep Obstet Gynecol. 2019; 2019: 6753184. Published online 2019 Oct 2. doi: 10.1155/2019/6753184
PMCID:
PMC6791227
AbstractArticlePDF–597K
2.
Chromosome 1p36 Deletion Syndrome: Four Patients with Variable Presentations
Chakshu Chaudhry, Divya Kumari, Inusha Panigrahi, Parminder Kaur
J Pediatr Genet. 2023 Dec; 12(4): 342–347. Published online 2021 Jul 28. doi: 10.1055/s-0041-1732477
PMCID:
PMC10756721
AbstractArticlePDF–1.5M
3.
Accurate, Fast and Cost-Effective Diagnostic Test for Monosomy 1p36 Using Real-Time Quantitative PCR
Pricila da Silva Cunha, Heloisa B. Pena, Carla Sustek D'Angelo, Celia P. Koiffmann, Jill A. Rosenfeld, Lisa G. Shaffer, Martin Stofanko, Higgor Gonçalves-Dornelas, Sérgio Danilo Junho Pena
Dis Markers. 2014; 2014: 836082. Published online 2014 Apr 15. doi: 10.1155/2014/836082
PMCID:
PMC4009252
AbstractArticlePDF–1.3M
4.
Phenotypic and Molecular Cytogenetic Analysis of a Case of Monosomy 1p36 Syndrome due to Unbalanced Translocation
Dalia F. Hussen, Alaa K. Kamel, Mona K. Mekkawy, Engy A. Ashaat, Mona O. El Ruby
Mol Syndromol. 2020 Dec; 11(5-6): 284–295. Published online 2020 Sep 23. doi: 10.1159/000510428
PMCID:
PMC7802438
AbstractArticlePDF–1.4M
5.
Neuropathology of brain and spinal malformations in a case of monosomy 1p36
Naoko Shiba, Ray AM Daza, Lisa G Shaffer, A James Barkovich, William B Dobyns, Robert F Hevner
Acta Neuropathol Commun. 2013; 1: 45. Published online 2013 Aug 2. doi: 10.1186/2051-5960-1-45
PMCID:
PMC3893467
AbstractArticlePDF–3.3M
6.
Morbid obesity in a child with monosomy 1p36 syndrome
Ana Zagalo, Patricia Dias, Carla Pereira, Maria de Lurdes Sampaio
BMJ Case Rep. 2012; 2012: bcr0120125503. Published online 2012 Mar 20. doi: 10.1136/bcr.01.2012.5503
PMCID:
PMC3316789
AbstractArticlePDF–682K
7.
Deletion of the Mouse Homolog of KCNAB2, a Gene Linked to Monosomy 1p36, Results in Associative Memory Impairments and Amygdala Hyperexcitability
John J. Perkowski, Geoffrey G. Murphy
J Neurosci. 2011 Jan 5; 31(1): 46–54. doi: 10.1523/JNEUROSCI.2634-10.2011
PMCID:
PMC3078585
AbstractArticlePDF–1.1M
8.
Array comparative genomic hybridisation-based identification of two imbalances of chromosome 1p in a 9-year-old girl with a monosomy 1p36 related phenotype and a family history of learning difficulties: a case report
Gregory J Fitzgibbon, Jill Clayton-Smith, Siddharth Banka, Susan J Hamilton, Margaret M Needham, Jonathan K Dore, Jake T Miller, Gareth D Pawson, Lorraine Gaunt
J Med Case Reports. 2008; 2: 355. Published online 2008 Nov 19. doi: 10.1186/1752-1947-2-355
PMCID:
PMC2596801
AbstractArticlePDF–364K
9.
Monosomy 1p36 uncovers a role for OX40 in survival of activated CD4+ T cells
M.M. Suhoski, E.E. Perez, M.L. Heltzer, A. Laney, L.G. Shaffer, S. Saitta, S. Nachman, N. Spinner, C.H. June, J.S. Orange
Clin Immunol. Author manuscript; available in PMC 2009 Aug 1.
Published in final edited form as: Clin Immunol. 2008 Aug; 128(2): 181–189. Published online 2008 Jun 3. doi: 10.1016/j.clim.2008.03.522
PMCID:
PMC2583253
AbstractArticlePDF–1.2M
10.
Monosomy 1p36
A. Slavotinek, L. Shaffer, S. Shapira
J Med Genet. 1999 Sep; 36(9): 657–663.
PMCID:
PMC1734434
SummaryPDF–142K
11.
Physical Map of 1p36, Placement of Breakpoints in Monosomy 1p36, and Clinical Characterization of the Syndrome
Heidi A. Heilstedt, Blake C. Ballif, Leslie A. Howard, Richard A. Lewis, Samuel Stal, Catherine D. Kashork, Carlos A. Bacino, Stuart K. Shapira, Lisa G. Shaffer
Am J Hum Genet. 2003 May; 72(5): 1200–1212. Published online 2003 Apr 8. doi: 10.1086/375179
PMCID:
PMC1180272
AbstractArticlePDF–759K
12.
Molecular characterization of a 1p36 chromosomal duplication and in utero interference define ENO1 as a candidate gene for polymicrogyria
Bilal El Waly, Cécile Mignon-Ravix, Pierre Cacciagli, Emmanuelle Buhler, Bruria ben Zeev, Laurent Villard
Eur J Hum Genet. 2020 Dec; 28(12): 1703–1713. Published online 2020 Jun 2. doi: 10.1038/s41431-020-0659-z
PMCID:
PMC7784979
AbstractArticlePDF–1.9M
13.
Essential Role of the Zinc Finger Transcription Factor Casz1 for Mammalian Cardiac Morphogenesis and Development
Zhihui Liu, Wenling Li, Xuefei Ma, Nancy Ding, Francesco Spallotta, Eileen Southon, Lino Tessarollo, Carlo Gaetano, Yoh-suke Mukouyama, Carol J. Thiele
J Biol Chem. 2014 Oct 24; 289(43): 29801–29816. Published online 2014 Sep 4. doi: 10.1074/jbc.M114.570416
PMCID:
PMC4207993
AbstractArticlePDF–7.5M
14.
Recurrent interstitial 1p36 deletions: evidence for germline mosaicism and complex rearrangement breakpoints
Marzena Gajecka, Sulagna C. Saitta, Andrew J. Gentles, Lindsey Campbell, Karen Ciprero, Elizabeth Geiger, Anne Catherwood, Jill A. Rosenfeld, Tamim Shaikh, Lisa G. Shaffer
Am J Med Genet A. Author manuscript; available in PMC 2011 Dec 1.
Published in final edited form as: Am J Med Genet A. 2010 Dec; 152A(12): 3074–3083. doi: 10.1002/ajmg.a.33733
PMCID:
PMC3058890
AbstractArticlePDF–614K
15.
Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function
Alex R Paciorkowski, Liu Lin Thio, Jill A Rosenfeld, Marzena Gajecka, Christina A Gurnett, Shashikant Kulkarni, Wendy K Chung, Eric D Marsh, Mattia Gentile, James D Reggin, James W Wheless, Sandhya Balasubramanian, Ravinesh Kumar, Susan L Christian, Carla Marini, Renzo Guerrini, Natalia Maltsev, Lisa G Shaffer, William B Dobyns
Eur J Hum Genet. 2011 Dec; 19(12): 1238–1245. Published online 2011 Jun 22. doi: 10.1038/ejhg.2011.121
PMCID:
PMC3230360
AbstractArticlePDF–445K
16.
Fine Mapping of the 1p36 Deletion Syndrome Identifies Mutation of PRDM16 as a Cause of Cardiomyopathy
Anne-Karin Arndt, Sebastian Schafer, Jorg-Detlef Drenckhahn, M. Khaled Sabeh, Eva R. Plovie, Almuth Caliebe, Eva Klopocki, Gabriel Musso, Andreas A. Werdich, Hermann Kalwa, Matthias Heinig, Robert F. Padera, Katharina Wassilew, Julia Bluhm, Christine Harnack, Janine Martitz, Paul J. Barton, Matthias Greutmann, Felix Berger, Norbert Hubner, Reiner Siebert, Hans-Heiner Kramer, Stuart A. Cook, Calum A. MacRae, Sabine Klaassen
Am J Hum Genet. 2013 Jul 11; 93(1): 67–77. doi: 10.1016/j.ajhg.2013.05.015
PMCID:
PMC3710750
AbstractArticlePDF–2.6M
17.
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females
Francesca Clementina Radio, Kaifang Pang, Andrea Ciolfi, Michael A. Levy, Andrés Hernández-García, Lucia Pedace, Francesca Pantaleoni, Zhandong Liu, Elke de Boer, Adam Jackson, Alessandro Bruselles, Haley McConkey, Emilia Stellacci, Stefania Lo Cicero, Marialetizia Motta, Rosalba Carrozzo, Maria Lisa Dentici, Kirsty McWalter, Megha Desai, Kristin G. Monaghan, Aida Telegrafi, Christophe Philippe, Antonio Vitobello, Margaret Au, Katheryn Grand, Pedro A. Sanchez-Lara, Joanne Baez, Kristin Lindstrom, Peggy Kulch, Jessica Sebastian, Suneeta Madan-Khetarpal, Chelsea Roadhouse, Jennifer J. MacKenzie, Berrin Monteleone, Carol J. Saunders, July K. Jean Cuevas, Laura Cross, Dihong Zhou, Taila Hartley, Sarah L. Sawyer, Fabíola Paoli Monteiro, Tania Vertemati Secches, Fernando Kok, Laura E. Schultz-Rogers, Erica L. Macke, Eva Morava, Eric W. Klee, Jennifer Kemppainen, Maria Iascone, Angelo Selicorni, Romano Tenconi, David J. Amor, Lynn Pais, Lyndon Gallacher, Peter D. Turnpenny, Karen Stals, Sian Ellard, Sara Cabet, Gaetan Lesca, Joset Pascal, Katharina Steindl, Sarit Ravid, Karin Weiss, Alison M.R. Castle, Melissa T. Carter, Louisa Kalsner, Bert B.A. de Vries, Bregje W. van Bon, Marijke R. Wevers, Rolph Pfundt, Alexander P.A. Stegmann, Bronwyn Kerr, Helen M. Kingston, Kate E. Chandler, Willow Sheehan, Abdallah F. Elias, Deepali N. Shinde, Meghan C. Towne, Nathaniel H. Robin, Dana Goodloe, Adeline Vanderver, Omar Sherbini, Krista Bluske, R. Tanner Hagelstrom, Caterina Zanus, Flavio Faletra, Luciana Musante, Evangeline C. Kurtz-Nelson, Rachel K. Earl, Britt-Marie Anderlid, Gilles Morin, Marjon van Slegtenhorst, Karin E.M. Diderich, Alice S. Brooks, Joost Gribnau, Ruben G. Boers, Teresa Robert Finestra, Lauren B. Carter, Anita Rauch, Paolo Gasparini, Kym M. Boycott, Tahsin Stefan Barakat, John M. Graham, Jr., Laurence Faivre, Siddharth Banka, Tianyun Wang, Evan E. Eichler, Manuela Priolo, Bruno Dallapiccola, Lisenka E.L.M. Vissers, Bekim Sadikovic, Daryl A. Scott, Jimmy Lloyd Holder, Jr., Marco Tartaglia
Am J Hum Genet. 2021 Mar 4; 108(3): 502–516. Published online 2021 Feb 16. doi: 10.1016/j.ajhg.2021.01.015
PMCID:
PMC8008487
AbstractArticlePDF–1.9M
18.
Type II diabetes and impaired glucose tolerance due to severe hyperinsulinism in patients with 1p36 deletion syndrome and a Prader-Willi-like phenotype
Stefano Stagi, Elisabetta Lapi, Marilena Pantaleo, Francesco Chiarelli, Salvatore Seminara, Maurizio de Martino
BMC Med Genet. 2014; 15: 16. Published online 2014 Jan 30. doi: 10.1186/1471-2350-15-16
PMCID:
PMC3916307
AbstractArticlePDF–1003K
19.
1p36 deletion syndrome: an update
Valerie K Jordan, Hitisha P Zaveri, Daryl A Scott
Appl Clin Genet. 2015; 8: 189–200. Published online 2015 Aug 27. doi: 10.2147/TACG.S65698
PMCID:
PMC4555966
AbstractArticlePDF–1.5M
20.
Cardiovascular Phenotypic Spectrum of 1p36 Deletion Syndrome
Tripat Kaur, Chenni S. Sriram, Priyanka Prasanna, Utkarsh Kohli
J Pediatr Genet. 2023 Dec; 12(4): 329–334. Published online 2021 Jul 29. doi: 10.1055/s-0041-1732473
PMCID:
PMC10756722
AbstractArticlePDF–849K

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