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Select item 78024381.

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

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Select item 67912272.

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

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Select item 40092523.

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

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Select item 38934674.

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

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Select item 33167895.

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

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Select item 30785856.

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

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Select item 25968017.

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

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Select item 25832538.

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

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Select item 17344349.

Monosomy 1p36

A. Slavotinek, L. Shaffer, S. Shapira

J Med Genet. 1999 Sep; 36(9): 657–663.

PMCID:: PMC1734434

Summary PDF–142K Cite

Select item 118027210.

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

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Select item 420799311.

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

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Select item 800848712.

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

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Select item 778497913.

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

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Select item 371075014.

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

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Select item 323036015.

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

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Select item 305889016.

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

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Select item 1010012517.

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

Clémence Jacquin, Emilie Landais, Céline Poirsier, Alexandra Afenjar, Ahmad Akhavi, Nathalie Bednarek, Caroline Bénech, Adeline Bonnard, Damien Bosquet, Lydie Burglen, Patrick Callier, Sandra Chantot‐Bastaraud, Christine Coubes, Charles Coutton, Bruno Delobel, Margaux Descharmes, Jean‐Michel Dupont, Vincent Gatinois, Nicolas Gruchy, Sarah Guterman, Abdelkader Heddar, Lucas Herissant, Delphine Heron, Bertrand Isidor, Pauline Jaeger, Guillaume Jouret, Boris Keren, Paul Kuentz, Cedric Le Caignec, Jonathan Levy, Nathalie Lopez, Zoe Manssens, Dominique Martin‐Coignard, Isabelle Marey, Cyril Mignot, Chantal Missirian, Céline Pebrel‐Richard, Lucile Pinson, Jacques Puechberty, Sylvia Redon, Damien Sanlaville, Marta Spodenkiewicz, Anne‐Claude Tabet, Alain Verloes, Gaelle Vieville, Catherine Yardin, François Vialard, Martine Doco‐Fenzy

Am J Med Genet A. 2023 Feb; 191(2): 445–458. Published online 2022 Nov 11. doi: 10.1002/ajmg.a.63041

PMCID:: PMC10100125

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Select item 886355318.

Outcome of Vertical Expandable Prosthetic Titanium Rib (VEPTR) Instrumentation in Scoliosis Associated With 1p36 Deletion Syndrome: A Case Report

Ozair Bin Majid, Mohammed A Al Rushud, Zayed Al-Zayed, Ghadeer Alsager, Jehangir A Bhat

Cureus. 2022 Jan; 14(1): e21505. Published online 2022 Jan 23. doi: 10.7759/cureus.21505

PMCID:: PMC8863553

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Select item 861880819.

1p36 Deletion Syndrome and the Aorta: A Report of Three New Patients and a Literature Review

Valentina Lodato, Valeria Orlando, Viola Alesi, Silvia Di Tommaso, Mario Bengala, Giovanni Parlapiano, Elisa Agnolucci, Marianna Cicenia, Federica Calì, Maria Cristina Digilio, Fabrizio Drago, Antonio Novelli, Anwar Baban

J Cardiovasc Dev Dis. 2021 Nov; 8(11): 159. Published online 2021 Nov 19. doi: 10.3390/jcdd8110159

PMCID:: PMC8618808

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Select item 846047320.

Novel Point Mutation of EBSS Gene Coexisted with 1p36 Deletion

Yue Zheng, Qingfang Xu, Wei Lai

Ann Dermatol. 2021 Oct; 33(5): 463–466. Published online 2021 Sep 8. doi: 10.5021/ad.2021.33.5.463

PMCID:: PMC8460473

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