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Items: 1 to 20 of 226

1.
A novel de novo pathogenic variant in KDM3B gene at the first Albanian case of Diets-Jongmans syndrome: DIJOS
Mirela Tabaku, Sonila Tomori, Paskal Cullufi, Ermira Dervishi, Omid Paknia, Peter Bauer
Mol Genet Metab Rep. 2022 Dec; 33: 100927. Published online 2022 Oct 14. doi: 10.1016/j.ymgmr.2022.100927
PMCID:
PMC9579042
AbstractArticlePDF–331K
2.
Mutations in CKAP2L, the Human Homolog of the Mouse Radmis Gene, Cause Filippi Syndrome
Muhammad Sajid Hussain, Agatino Battaglia, Sandra Szczepanski, Emrah Kaygusuz, Mohammad Reza Toliat, Shin-ichi Sakakibara, Janine Altmüller, Holger Thiele, Gudrun Nürnberg, Shahida Moosa, Gökhan Yigit, Filippo Beleggia, Sigrid Tinschert, Jill Clayton-Smith, Pradeep Vasudevan, Jill E. Urquhart, Dian Donnai, Alan Fryer, Ferda Percin, Francesco Brancati, Angus Dobbie, Robert Śmigiel, Gabriele Gillessen-Kaesbach, Bernd Wollnik, Angelika Anna Noegel, William G. Newman, Peter Nürnberg
Am J Hum Genet. 2014 Nov 6; 95(5): 622–632. doi: 10.1016/j.ajhg.2014.10.008
PMCID:
PMC4225581
AbstractArticlePDF–2.3M
3.
De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations
Margot R.F. Reijnders, Vasilios Zachariadis, Brooke Latour, Lachlan Jolly, Grazia M. Mancini, Rolph Pfundt, Ka Man Wu, Conny M.A. van Ravenswaaij-Arts, Hermine E. Veenstra-Knol, Britt-Marie M. Anderlid, Stephen A. Wood, Sau Wai Cheung, Angela Barnicoat, Frank Probst, Pilar Magoulas, Alice S. Brooks, Helena Malmgren, Arja Harila-Saari, Carlo M. Marcelis, Maaike Vreeburg, Emma Hobson, V. Reid Sutton, Zornitza Stark, Julie Vogt, Nicola Cooper, Jiin Ying Lim, Sue Price, Angeline Hwei Meeng Lai, Deepti Domingo, Bruno Reversade, the DDD Study, Jozef Gecz, Christian Gilissen, Han G. Brunner, Usha Kini, Ronald Roepman, Ann Nordgren, Tjitske Kleefstra
Am J Hum Genet. 2016 Feb 4; 98(2): 373–381. Published online 2016 Jan 28. doi: 10.1016/j.ajhg.2015.12.015
PMCID:
PMC4746365
AbstractArticlePDF–1.7M
4.
An unexpected finding: younger fathers have a higher risk for offspring with chromosomal aneuploidies
Bernhard Steiner, Rahim Masood, Kaspar Rufibach, Dunja Niedrist, Oliver Kundert, Mariluce Riegel, Albert Schinzel
Eur J Hum Genet. 2015 Apr; 23(4): 466–472. Published online 2014 Jul 9. doi: 10.1038/ejhg.2014.122
PMCID:
PMC4666566
AbstractArticlePDF–582K
5.
A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentations
Thomas Iype, Vafa Alakbarzade, Mary Iype, Royana Singh, Ajith Sreekantan-Nair, Barry A. Chioza, Tribhuvan M. Mohapatra, Emma L. Baple, Michael A. Patton, Thomas T. Warner, Christos Proukakis, Abhi Kulkarni, Andrew H. Crosby
BMC Med Genet. 2015; 16: 104. Published online 2015 Nov 10. doi: 10.1186/s12881-015-0251-5
PMCID:
PMC4641370
AbstractArticlePDF–988K
6.
DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies
Jianling Ji, Hane Lee, Bob Argiropoulos, Naghmeh Dorrani, John Mann, Julian A Martinez-Agosto, Natalia Gomez-Ospina, Natalie Gallant, Jonathan A Bernstein, Louanne Hudgins, Leah Slattery, Bertrand Isidor, Cédric Le Caignec, Albert David, Ewa Obersztyn, Barbara Wiśniowiecka-Kowalnik, Michelle Fox, Joshua L Deignan, Eric Vilain, Emily Hendricks, Margaret Horton Harr, Sarah E Noon, Jessi R Jackson, Alisha Wilkens, Ghayda Mirzaa, Noriko Salamon, Jeff Abramson, Elaine H Zackai, Ian Krantz, A Micheil Innes, Stanley F Nelson, Wayne W Grody, Fabiola Quintero-Rivera
Eur J Hum Genet. 2015 Oct; 23(11): 1473–1481. Published online 2015 May 6. doi: 10.1038/ejhg.2015.71
PMCID:
PMC4613469
AbstractArticlePDF–2.3M
7.
Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome
Concetta Cafiero, Giuseppe Marangi, Daniela Orteschi, Marwan Ali, Alessia Asaro, Emanuela Ponzi, Alice Moncada, Stefania Ricciardi, Marina Murdolo, Giorgia Mancano, Ilaria Contaldo, Vincenzo Leuzzi, Domenica Battaglia, Eugenio Mercuri, Anne M Slavotinek, Marcella Zollino
Eur J Hum Genet. 2015 Oct; 23(11): 1499–1504. Published online 2015 Feb 25. doi: 10.1038/ejhg.2015.19
PMCID:
PMC4613466
AbstractArticlePDF–695K
8.
Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami–Ogata syndrome)
Masayo Kagami, Kenji Kurosawa, Osamu Miyazaki, Fumitoshi Ishino, Kentaro Matsuoka, Tsutomu Ogata
Eur J Hum Genet. 2015 Oct; 23(11): 1488–1498. Published online 2015 Feb 18. doi: 10.1038/ejhg.2015.13
PMCID:
PMC4613461
AbstractArticlePDF–2.1M
9.
Novel Pathogenic Variant (c.3178G>A) in the SMC1A Gene in a Family With Cornelia de Lange Syndrome Identified by Exome Sequencing
Mi-Ae Jang, Chang-Woo Lee, Jin-Kyung Kim, Chang-Seok Ki
Ann Lab Med. 2015 Nov; 35(6): 639–642. Published online 2015 Sep 1. doi: 10.3343/alm.2015.35.6.639
PMCID:
PMC4579110
AbstractArticlePDF–425K
10.
Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies
Marcello Niceta, Emilia Stellacci, Karen W. Gripp, Giuseppe Zampino, Maria Kousi, Massimiliano Anselmi, Alice Traversa, Andrea Ciolfi, Deborah Stabley, Alessandro Bruselles, Viviana Caputo, Serena Cecchetti, Sabrina Prudente, Maria T. Fiorenza, Carla Boitani, Nicole Philip, Dmitriy Niyazov, Chiara Leoni, Takaya Nakane, Kim Keppler-Noreuil, Stephen R. Braddock, Gabriele Gillessen-Kaesbach, Antonio Palleschi, Philippe M. Campeau, Brendan H.L. Lee, Celio Pouponnot, Lorenzo Stella, Gianfranco Bocchinfuso, Nicholas Katsanis, Katia Sol-Church, Marco Tartaglia
Am J Hum Genet. 2015 May 7; 96(5): 816–825. doi: 10.1016/j.ajhg.2015.03.001
PMCID:
PMC4570552
AbstractArticlePDF–1.5M
11.
Evf2 lncRNA/BRG1/DLX1 interactions reveal RNA-dependent inhibition of chromatin remodeling
Ivelisse Cajigas, David E. Leib, Jesse Cochrane, Hao Luo, Kelsey R. Swyter, Sean Chen, Brian S. Clark, James Thompson, John R. Yates, III, Robert E. Kingston, Jhumku D. Kohtz
Development. 2015 Aug 1; 142(15): 2641–2652. doi: 10.1242/dev.126318
PMCID:
PMC4529037
AbstractArticle
12.
Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development
Peter M. Van Laarhoven, Leif R. Neitzel, Anita M Quintana, Elizabeth A. Geiger, Elaine H. Zackai, David E. Clouthier, Kristin B. Artinger, Jeffrey E. Ming, Tamim H. Shaikh
Hum Mol Genet. 2015 Aug 1; 24(15): 4443–4453. Published online 2015 May 13. doi: 10.1093/hmg/ddv180
PMCID:
PMC4492403
AbstractArticlePDF–811K
13.
The role of BAF (mSWI/SNF) complexes in mammalian neural development
Esther Y. Son, Gerald R. Crabtree
Am J Med Genet C Semin Med Genet. Author manuscript; available in PMC 2015 Sep 5.
Published in final edited form as: Am J Med Genet C Semin Med Genet. 2014 Sep; 0(3): 333–349. Published online 2014 Sep 5. doi: 10.1002/ajmg.c.31416
PMCID:
PMC4405377
AbstractArticlePDF–588K
14.
Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features
Emma Tham, Anna Lindstrand, Avni Santani, Helena Malmgren, Addie Nesbitt, Holly A. Dubbs, Elaine H. Zackai, Michael J. Parker, Francisca Millan, Kenneth Rosenbaum, Golder N. Wilson, Ann Nordgren
Am J Hum Genet. 2015 Mar 5; 96(3): 507–513. doi: 10.1016/j.ajhg.2015.01.016
PMCID:
PMC4375419
AbstractArticlePDF–912K
15.
Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange
Jiong Yan, Feng Zhang, Ellen Brundage, Angela Scheuerle, Brendan Lanpher, Robert P. Erickson, Zoe Powis, Haynes B. Robinson, Pamela L. Trapane, Danuta Stachiw-Hietpas, Kim M. Keppler-Noreuil, Seema R. Lalani, Trilochan Sahoo, A. Craig Chinault, Ankita Patel, Sau Wai Cheung, James R. Lupski
J Med Genet. Author manuscript; available in PMC 2015 Jan 22.
Published in final edited form as: J Med Genet. 2009 Sep; 46(9): 626–634. Published online 2008 Dec 3. doi: 10.1136/jmg.2008.062471
PMCID:
PMC4302738
AbstractArticlePDF–730K
16.
Clinical Management of Patients with ASXL1 Mutations and Bohring-Opitz Syndrome, Emphasizing the Need for Wilms Tumor Surveillance
Bianca Russell, Jennifer J Johnston, Leslie G. Biesecker, Nancy Kramer, Angela Pickart, William Rhead, Wen-Hann Tan, Catherine A Brownstein, L Kate Clarkson, Amy Dobson, Avi Z Rosenberg, Samantha A. Schrier Vergano, Benjamin M. Helm, Rachel E Harrison, John M Graham, Jr.
Am J Med Genet A. Author manuscript; available in PMC 2016 Sep 1.
Published in final edited form as: Am J Med Genet A. 2015 Sep; 0(9): 2122–2131. Published online 2015 Apr 29. doi: 10.1002/ajmg.a.37131
PMCID:
PMC4760347
AbstractArticlePDF–605K
17.
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism
Morad Ansari, Gemma Poke, Quentin Ferry, Kathleen Williamson, Roland Aldridge, Alison M Meynert, Hemant Bengani, Cheng Yee Chan, Hülya Kayserili, Şahin Avci, Raoul C M Hennekam, Anne K Lampe, Egbert Redeker, Tessa Homfray, Alison Ross, Marie Falkenberg Smeland, Sahar Mansour, Michael J Parker, Jacqueline A Cook, Miranda Splitt, Richard B Fisher, Alan Fryer, Alex C Magee, Andrew Wilkie, Angela Barnicoat, Angela F Brady, Nicola S Cooper, Catherine Mercer, Charu Deshpande, Christopher P Bennett, Daniela T Pilz, Deborah Ruddy, Deirdre Cilliers, Diana S Johnson, Dragana Josifova, Elisabeth Rosser, Elizabeth M Thompson, Emma Wakeling, Esther Kinning, Fiona Stewart, Frances Flinter, Katta M Girisha, Helen Cox, Helen V Firth, Helen Kingston, Jamie S Wee, Jane A Hurst, Jill Clayton-Smith, John Tolmie, Julie Vogt, Katrina Tatton–Brown, Kate Chandler, Katrina Prescott, Louise Wilson, Mahdiyeh Behnam, Meriel McEntagart, Rosemarie Davidson, Sally-Ann Lynch, Sanjay Sisodiya, Sarju G Mehta, Shane A McKee, Shehla Mohammed, Simon Holden, Soo-Mi Park, Susan E Holder, Victoria Harrison, Vivienne McConnell, Wayne K Lam, Andrew J Green, Dian Donnai, Maria Bitner-Glindzicz, Deirdre E Donnelly, Christoffer Nellåker, Martin S Taylor, David R FitzPatrick
J Med Genet. 2014 Oct; 51(10): 659–668. Published online 2014 Aug 14. doi: 10.1136/jmedgenet-2014-102573
PMCID:
PMC4173748
AbstractArticlePDF–4.2M
18.
Frequency of Births Due to Assisted Reproductive Technology (ART) in Prader-Willi Syndrome
June-Anne Gold, Chelsey Ruth, Kathryn Osann, Pamela Flodman, Barbara McManus, Hye-Seung Lee, Sandra Donkervoort, Manaswitha Khare, Elizabeth Roof, Elizabeth Dykens, Daniel J. Driscoll, Merlin G. Butler, Janalee Heinemann, Suzanne Cassidy, Virginia Kimonis
Genet Med. Author manuscript; available in PMC 2015 Feb 1.
Published in final edited form as: Genet Med. 2014 Feb; 16(2): 164–169. Published online 2013 Aug 8. doi: 10.1038/gim.2013.97
Correction in:
volume 15 on page 912
PMCID:
PMC4164429
AbstractArticlePDF–153K
19.
A de novo Microdeletion of ANKRD11 Gene in a Korean Patient with KBG Syndrome
Ji-Hun Lim, Eul-Ju Seo, Yoo-Mi Kim, Hyun-Ju Cho, Jin-Ok Lee, Chong Kun Cheon, Han-Wook Yoo
Ann Lab Med. 2014 Sep; 34(5): 390–394. Published online 2014 Aug 21. doi: 10.3343/alm.2014.34.5.390
PMCID:
PMC4151010
AbstractArticlePDF–976K
20.
Exome Sequencing Identifies a Recurrent De Novo ZSWIM6 Mutation Associated with Acromelic Frontonasal Dysostosis
Joshua D. Smith, Anne V. Hing, Christine M. Clarke, Nathan M. Johnson, Francisco A. Perez, Sarah S. Park, Jeremy A. Horst, Brig Mecham, Lisa Maves, Deborah A. Nickerson, University of Washington Center for Mendelian Genomics, Michael L. Cunningham
Am J Hum Genet. 2014 Aug 7; 95(2): 235–240. doi: 10.1016/j.ajhg.2014.07.008
PMCID:
PMC4129399
AbstractArticlePDF–1.9M

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