U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from MedGen

Items: 1 to 20 of 41

1.
Genotype-phenotype correlation in four 15q24 deleted patients identified by array-CGH
Joris Andrieux, Christèle Dubourg, Marlène Rio, Tania Attie-Bitach, Elsa Delaby, Michèle Mathieu, Hubert Journel, Henri Copin, Eléonore Blondeel, Martine Doco-Fenzy, Emilie Landais, Bruno Delobel, Sylvie Odent, Sylvie Manouvrier-Hanu, Muriel Holder-Espinasse
Am J Med Genet A. Author manuscript; available in PMC 2010 May 26.
Published in final edited form as: Am J Med Genet A. 2009 Dec; 149A(12): 2813–2819. doi: 10.1002/ajmg.a.33097
PMCID:
PMC2874573
AbstractArticle
2.
De Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual Disability
Detelina Grozeva, Keren Carss, Olivera Spasic-Boskovic, Michael J. Parker, Hayley Archer, Helen V. Firth, Soo-Mi Park, Natalie Canham, Susan E. Holder, Meredith Wilson, Anna Hackett, Michael Field, James A.B. Floyd, UK10K Consortium, Matthew Hurles, F. Lucy Raymond
Am J Hum Genet. 2014 Apr 3; 94(4): 618–624. doi: 10.1016/j.ajhg.2014.03.006
PMCID:
PMC3980521
AbstractArticlePDF–1.2M
3.
Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome
Elisabetta Flex, Andrea Ciolfi, Viviana Caputo, Valentina Fodale, Chiara Leoni, Daniela Melis, Maria Francesca Bedeschi, Laura Mazzanti, Antonio Pizzuti, Marco Tartaglia, Giuseppe Zampino
J Med Genet. 2013 Aug; 50(8): 493–499. Published online 2013 May 17. doi: 10.1136/jmedgenet-2012-101405
PMCID:
PMC3717725
AbstractArticlePDF–636K
4.
FBLN5-Related Cutis Laxa Syndrome: A Case with a Novel Variant and Review of the Literature
Aysel Tekmenuray-Unal, Ceren Damla Durmaz
Mol Syndromol. 2023 Feb; 14(1): 80–87. Published online 2022 Jul 6. doi: 10.1159/000525215
PMCID:
PMC9912000
AbstractArticlePDF–660K
5.
Annular pancreas in Trichorhinophalangeal syndrome type II with 8q23.3-q24.12 interstitial deletion
Qi Li, Zhen Zhang, Yuchun Yan, Ping Xiao, Zhijie Gao, Wei Cheng, Lin Su, Kaihui Yu, Hua Xie, Xiaoli Chen, Qian Jiang, Long Li
Mol Cytogenet. 2015; 8: 95. Published online 2015 Dec 15. doi: 10.1186/s13039-015-0201-0
PMCID:
PMC4678473
AbstractArticlePDF–1.4M
6.
Clinical and Molecular Spectrum of Four Patients Diagnosed with Mowat-Wilson Syndrome
Durdugul Ayyildiz Emecen, Esra Isik, Gulen E. Utine, Pelin O. Simsek-Kiper, Tahir Atik, Ferda Ozkinay
Mol Syndromol. 2020 Dec; 11(5-6): 296–301. Published online 2020 Nov 20. doi: 10.1159/000511609
PMCID:
PMC7802445
AbstractArticlePDF–358K
7.
De novo chromosome 7q36.1q36.2 triplication in a child with developmental delay, growth failure, distinctive facial features, and multiple congenital anomalies: a case report
Muna A. Al Dhaibani, Diane Allingham-Hawkins, Ayman W. El-Hattab
BMC Med Genet. 2017; 18: 118. Published online 2017 Oct 23. doi: 10.1186/s12881-017-0482-8
PMCID:
PMC5654040
AbstractArticlePDF–644K
8.
De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism
Yanjie Fan, Wu Yin, Bing Hu, Antonie D. Kline, Victor Wei Zhang, Desheng Liang, Yu Sun, Lili Wang, Sha Tang, Zöe Powis, Lei Li, Huifang Yan, Zhen Shi, Xiaoping Yang, Yinyin Chen, Jingmin Wang, Yuwu Jiang, Hu Tan, Xuefan Gu, Lingqian Wu, Yongguo Yu
Am J Hum Genet. 2018 Sep 6; 103(3): 448–455. Published online 2018 Aug 16. doi: 10.1016/j.ajhg.2018.07.019
PMCID:
PMC6128244
AbstractArticlePDF–1.9M
9.
Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral–facial–digital overlap syndrome
Jennifer J. Johnston, Chanjae Lee, Ingrid M. Wentzensen, Melissa A. Parisi, Molly M. Crenshaw, Julie C. Sapp, Jeffrey M. Gross, John B. Wallingford, Leslie G. Biesecker
Cold Spring Harb Mol Case Stud. 2017 Jul; 3(4): a001321. doi: 10.1101/mcs.a001321
PMCID:
PMC5495032
AbstractArticlePDF–1.1M
10.
PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features
Karen J Low, Morad Ansari, Rami Abou Jamra, Angus Clarke, Salima El Chehadeh, David R FitzPatrick, Mark Greenslade, Alex Henderson, Jane Hurst, Kory Keller, Paul Kuentz, Trine Prescott, Franziska Roessler, Kaja K Selmer, Michael C Schneider, Fiona Stewart, Katrina Tatton-Brown, Julien Thevenon, Magnus D Vigeland, Julie Vogt, Marjolaine Willems, Jonathan Zonana, D D D Study, Sarah F Smithson
Eur J Hum Genet. 2017 May; 25(5): 552–559. Published online 2017 Mar 22. doi: 10.1038/ejhg.2017.27
PMCID:
PMC5392357
AbstractArticlePDF–2.6M
11.
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype
Vandana Shashi, Loren D.M. Pena, Katherine Kim, Barbara Burton, Maja Hempel, Kelly Schoch, Magdalena Walkiewicz, Heather M. McLaughlin, Megan Cho, Nicholas Stong, Scott E. Hickey, Christine M. Shuss, Undiagnosed Diseases Network, Michael S. Freemark, Jane S. Bellet, Martha Ann Keels, Melanie J. Bonner, Maysantoine El-Dairi, Megan Butler, Peter G. Kranz, Constance T.R.M. Stumpel, Sylvia Klinkenberg, Karin Oberndorff, Malik Alawi, Rene Santer, Slavé Petrovski, Outi Kuismin, Satu Korpi-Heikkilä, Olli Pietilainen, Palotie Aarno, Mitja I. Kurki, Alexander Hoischen, Anna C. Need, David B. Goldstein, Fanny Kortüm
Am J Hum Genet. 2016 Oct 6; 99(4): 991–999. Published online 2016 Sep 29. doi: 10.1016/j.ajhg.2016.08.017
Correction in:
Am J Hum Genet. 2017 Jan 5; 100(1): 179.
PMCID:
PMC5065681
AbstractArticlePDF–798K
12.
7q11.23 Duplication Syndrome: Physical Characteristics and Natural History
Colleen A. Morris, Carolyn B. Mervis, Alex P. Paciorkowski, Omar Abdul-Rahman, Sarah L. Dugan, Alan F. Rope, Patricia Bader, Laura G. Hendon, Shelley L. Velleman, Bonita P. Klein-Tasman, Lucy R. Osborne
Am J Med Genet A. Author manuscript; available in PMC 2016 Dec 1.
Published in final edited form as: Am J Med Genet A. 2015 Dec; 167A(12): 2916–2935. Published online 2015 Sep 3. doi: 10.1002/ajmg.a.37340
PMCID:
PMC5005957
AbstractArticlePDF–819K
13.
Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases
Alain Verloes, Nataliya Di Donato, Julien Masliah-Planchon, Marjolijn Jongmans, Omar A Abdul-Raman, Beate Albrecht, Judith Allanson, Han Brunner, Debora Bertola, Nicolas Chassaing, Albert David, Koen Devriendt, Pirayeh Eftekhari, Valérie Drouin-Garraud, Francesca Faravelli, Laurence Faivre, Fabienne Giuliano, Leina Guion Almeida, Jorge Juncos, Marlies Kempers, Hatice Koçak Eker, Didier Lacombe, Angela Lin, Grazia Mancini, Daniela Melis, Charles Marques Lourenço, Victoria Mok Siu, Gilles Morin, Marjan Nezarati, Malgorzata J M Nowaczyk, Jeanette C Ramer, Sara Osimani, Nicole Philip, Mary Ella Pierpont, Vincent Procaccio, Zeichi-Seide Roseli, Massimiliano Rossi, Cristina Rusu, Yves Sznajer, Ludivine Templin, Vera Uliana, Mirjam Klaus, Bregje Van Bon, Conny Van Ravenswaaij, Bruce Wainer, Andrew E Fry, Andreas Rump, Alexander Hoischen, Séverine Drunat, Jean-Baptiste Rivière, William B Dobyns, Daniela T Pilz
Eur J Hum Genet. 2015 Mar; 23(3): 292–301. Published online 2014 Jul 23. doi: 10.1038/ejhg.2014.95
PMCID:
PMC4326722
AbstractArticlePDF–2.0M
14.
Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder
Sureni V Mullegama, Jill A Rosenfeld, Carmen Orellana, Bregje W M van Bon, Sara Halbach, Elena A Repnikova, Lauren Brick, Chumei Li, Lucie Dupuis, Monica Rosello, Swaroop Aradhya, D James Stavropoulos, Kandamurugu Manickam, Elyse Mitchell, Jennelle C Hodge, Michael E Talkowski, James F Gusella, Kory Keller, Jonathan Zonana, Stuart Schwartz, Robert E Pyatt, Darrel J Waggoner, Lisa G Shaffer, Angela E Lin, Bert B A de Vries, Roberto Mendoza-Londono, Sarah H Elsea
Eur J Hum Genet. 2014 Jan; 22(1): 57–63. Published online 2013 May 1. doi: 10.1038/ejhg.2013.67
PMCID:
PMC3865402
AbstractArticlePDF–843K
15.
3-M syndrome associated with growth hormone deficiency: 18 year follow-up of a patient
Cristina Meazza, Ekkehard Lausch, Sara Pagani, Elena Bozzola, Valeria Calcaterra, Andrea Superti-Furga, Margherita Silengo, Mauro Bozzola
Ital J Pediatr. 2013; 39: 21. Published online 2013 Mar 21. doi: 10.1186/1824-7288-39-21
PMCID:
PMC3608257
AbstractArticlePDF–2.7M
16.
Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay
Cyril Amouroux, Marie Vincent, Patricia Blanchet, Jacques Puechberty, Anouck Schneider, Anne Marie Chaze, Manon Girard, Magali Tournaire, Christian Jorgensen, Denis Morin, Pierre Sarda, Geneviève Lefort, David Geneviève
Eur J Hum Genet. 2012 May; 20(5): 580–583. Published online 2012 Jan 18. doi: 10.1038/ejhg.2011.243
PMCID:
PMC3330221
AbstractArticlePDF–227K
17.
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
18.
Chromosome 15q24 microdeletion syndrome
Pilar L Magoulas, Ayman W El-Hattab
Orphanet J Rare Dis. 2012; 7: 2. Published online 2012 Jan 4. doi: 10.1186/1750-1172-7-2
PMCID:
PMC3275445
AbstractArticlePDF–570K
19.
Mowat-Wilson syndrome
Livia Garavelli, Paola Cerruti Mainardi
Orphanet J Rare Dis. 2007; 2: 42. Published online 2007 Oct 24. doi: 10.1186/1750-1172-2-42
PMCID:
PMC2174447
AbstractArticlePDF–806K
20.
Mutations in STRA6 Cause a Broad Spectrum of Malformations Including Anophthalmia, Congenital Heart Defects, Diaphragmatic Hernia, Alveolar Capillary Dysplasia, Lung Hypoplasia, and Mental Retardation
Francesca Pasutto, Heinrich Sticht, Gerhard Hammersen, Gabriele Gillessen-Kaesbach, David R. FitzPatrick, Gudrun Nürnberg, Frank Brasch, Heidemarie Schirmer-Zimmermann, John L. Tolmie, David Chitayat, Gunnar Houge, Lorena Fernández-Martínez, Sarah Keating, Geert Mortier, Raoul C. M. Hennekam, Axel von der Wense, Anne Slavotinek, Peter Meinecke, Pierre Bitoun, Christian Becker, Peter Nürnberg, André Reis, Anita Rauch
Am J Hum Genet. 2007 Mar; 80(3): 550–560. Published online 2007 Jan 29. doi: 10.1086/512203
PMCID:
PMC1821097
AbstractArticlePDF–3.3M

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center