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Items: 1 to 20 of 24

1.
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities
Elisa Cali, Mohnish Suri, Marcello Scala, Matteo P. Ferla, Shahryar Alavi, Eissa Ali Faqeih, Emilia K. Bijlsma, Kristen M. Wigby, Diana Baralle, Mohammad Y.V. Mehrjardi, Jennifer Schwab, Konrad Platzer, Katharina Steindl, Mais Hashem, Marilyn Jones, Dmitriy M. Niyazov, Jennifer Jacober, Rebecca Okashah Littlejohn, Denisa Weis, Neda Zadeh, Lance Rodan, Alice Goldenberg, François Lecoquierre, Marina Dutra-Clarke, Gabriella Horvath, Dana Young, Naama Orenstein, Shahad Bawazeer, Anneke T. Vulto-van Silfhout, Yvan Herenger, Mohammadreza Dehghani, Seyed Mohammad Seyedhassani, Amir Bahreini, Mahya E. Nasab, A. Gulhan Ercan-Sencicek, Zahra Firoozfar, Mojtaba Movahedinia, Stephanie Efthymiou, Pasquale Striano, Ehsan Ghayoor Karimiani, Vincenzo Salpietro, Jenny C. Taylor, Melody Redman, Alexander P.A. Stegmann, Andreas Laner, Ghada Abdel-Salam, Megan Li, Mario Bengala, Amelie Johanna Müller, Maria C. Digilio, Anita Rauch, Murat Gunel, Hannah Titheradge, Daniela N. Schweitzer, Alison Kraus, Irene Valenzuela, Scott D. McLean, Chanika Phornphutkul, Mustafa Salih, Amber Begtrup, Rhonda E. Schnur, Erin Torti, Tobias B. Haack, Carlos E. Prada, Fowzan S. Alkuraya, Henry Houlden, Reza Maroofian
Genet Med. 2023 Jan; 25(1): 135–142. doi: 10.1016/j.gim.2022.09.016
PMCID:
PMC10620944
AbstractArticlePDF–1.9M
2.
Nrf2 Transcriptional Activity Governs Intestine Development
Aleksandra Kopacz, Damian Kloska, Dominika Klimczyk, Magdalena Kopec, Alicja Jozkowicz, Aleksandra Piechota-Polanczyk
Int J Mol Sci. 2022 Jun; 23(11): 6175. Published online 2022 May 31. doi: 10.3390/ijms23116175
PMCID:
PMC9181470
AbstractArticlePDF–5.8M
3.
A Novel de Novo Variant in 5′ UTR of the NIPBL Associated with Cornelia de Lange Syndrome
Yonghua Chen, Qingqing Chen, Ke Yuan, Jianfang Zhu, Yanlan Fang, Qingfeng Yan, Chunlin Wang
Genes (Basel) 2022 May; 13(5): 740. Published online 2022 Apr 22. doi: 10.3390/genes13050740
PMCID:
PMC9140414
AbstractArticlePDF–2.5M
4.
Identification of a novel KAT6A variant in an infant presenting with facial dysmorphism and developmental delay: a case report and literature review
Soyoung Bae, Aram Yang, Jinsup Kim, Hyun Ju Lee, Hyun Kyung Park
BMC Med Genomics. 2021; 14: 297. Published online 2021 Dec 20. doi: 10.1186/s12920-021-01148-x
PMCID:
PMC8686292
AbstractArticlePDF–1.3M
5.
Delineation of the 1q24.3 microdeletion syndrome provides further evidence for the potential role of non-coding RNAs in regulating the skeletal phenotype
James L. Shepherdson, Hongjun Zheng, Ina E. Amarillo, Audrey McAlinden, Marwan Shinawi
Bone. Author manuscript; available in PMC 2021 Apr 5.
Published in final edited form as: Bone. 2021 Jan; 142: 115705. Published online 2020 Oct 22. doi: 10.1016/j.bone.2020.115705
PMCID:
PMC8020873
AbstractArticlePDF–1.5M
6.
Unilateral and segmental distribution of facial erythema: is it a real port-wine stain?
Qingqing Cen, Yi Sun, Xiaojing Zeng, Yun Liu, Fatao Liu, Hui Chen, Xiaoxi Lin, Ren Cai
Hereditas. 2020; 157: 27. Published online 2020 Jul 7. doi: 10.1186/s41065-020-00143-z
PMCID:
PMC7341638
AbstractArticlePDF–2.7M
7.
β-Mannosidosis caused by a novel homozygous intragenic inverted duplication in MANBA
Maria Blomqvist, Marie Falkenberg Smeland, Julia Lindgren, Per Sikora, Hilde Monica Frostad Riise Stensland, Jorge Asin-Cayuela
Cold Spring Harb Mol Case Stud. 2019 Jun; 5(3): a003954. doi: 10.1101/mcs.a003954
PMCID:
PMC6549551
AbstractArticlePDF–5.6M
8.
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability
Benjamin Cogné, Sophie Ehresmann, Eliane Beauregard-Lacroix, Justine Rousseau, Thomas Besnard, Thomas Garcia, Slavé Petrovski, Shiri Avni, Kirsty McWalter, Patrick R. Blackburn, Stephan J. Sanders, Kévin Uguen, Jacqueline Harris, Julie S. Cohen, Moira Blyth, Anna Lehman, Jonathan Berg, Mindy H. Li, Usha Kini, Shelagh Joss, Charlotte von der Lippe, Christopher T. Gordon, Jennifer B. Humberson, Laurie Robak, Daryl A. Scott, Vernon R. Sutton, Cara M. Skraban, Jennifer J. Johnston, Annapurna Poduri, Magnus Nordenskjöld, Vandana Shashi, Erica H. Gerkes, Ernie M.H.F. Bongers, Christian Gilissen, Yuri A. Zarate, Malin Kvarnung, Kevin P. Lally, Peggy A. Kulch, Brina Daniels, Andres Hernandez-Garcia, Nicholas Stong, Julie McGaughran, Kyle Retterer, Kristian Tveten, Jennifer Sullivan, Madeleine R. Geisheker, Asbjorg Stray-Pedersen, Jennifer M. Tarpinian, Eric W. Klee, Julie C. Sapp, Jacob Zyskind, Øystein L. Holla, Emma Bedoukian, Francesca Filippini, Anne Guimier, Arnaud Picard, Øyvind L. Busk, Jaya Punetha, Rolph Pfundt, Anna Lindstrand, Ann Nordgren, Fayth Kalb, Megha Desai, Ashley Harmon Ebanks, Shalini N. Jhangiani, Tammie Dewan, Zeynep H. Coban Akdemir, Aida Telegrafi, Elaine H. Zackai, Amber Begtrup, Xiaofei Song, Annick Toutain, Ingrid M. Wentzensen, Sylvie Odent, Dominique Bonneau, Xénia Latypova, Wallid Deb, CAUSES Study, Sylvia Redon, Frédéric Bilan, Marine Legendre, Caitlin Troyer, Kerri Whitlock, Oana Caluseriu, Marine I. Murphree, Pavel N. Pichurin, Katherine Agre, Ralitza Gavrilova, Tuula Rinne, Meredith Park, Catherine Shain, Erin L. Heinzen, Rui Xiao, Jeanne Amiel, Stanislas Lyonnet, Bertrand Isidor, Leslie G. Biesecker, Dan Lowenstein, Jennifer E. Posey, Anne-Sophie Denommé-Pichon, Deciphering Developmental Disorders study, Claude Férec, Xiang-Jiao Yang, Jill A. Rosenfeld, Brigitte Gilbert-Dussardier, Séverine Audebert-Bellanger, Richard Redon, Holly A.F. Stessman, Christoffer Nellaker, Yaping Yang, James R. Lupski, David B. Goldstein, Evan E. Eichler, Francois Bolduc, Stéphane Bézieau, Sébastien Küry, Philippe M. Campeau
Am J Hum Genet. 2019 Mar 7; 104(3): 530–541. Published online 2019 Feb 28. doi: 10.1016/j.ajhg.2019.01.010
PMCID:
PMC6407527
AbstractArticlePDF–2.4M
9.
Photoanthropometric Study of Craniofacial Traits of Individuals With Prader-Willi Syndrome
Merlin G. Butler, Gabrielle J. Levine, Jacqueline Y. Le, Bryan D. Hall, Suzanne B. Cassidy
Am J Med Genet. Author manuscript; available in PMC 2018 Jul 25.
Published in final edited form as: Am J Med Genet. 1995 Jul 31; 58(1): 38–45. doi: 10.1002/ajmg.1320580109
PMCID:
PMC6057870
AbstractArticlePDF–56K
10.
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
11.
The human brain and face: mechanisms of cranial, neurological and facial development revealed through malformations of holoprosencephaly, cyclopia and aberrations in chromosome 18
Marjorie C Gondré-Lewis, Temitayo Gboluaje, Shaina N Reid, Stephen Lin, Paul Wang, William Green, Rui Diogo, Marie N Fidélia-Lambert, Mary M Herman
J Anat. 2015 Sep; 227(3): 255–267. Published online 2015 Aug 17. doi: 10.1111/joa.12343
PMCID:
PMC4560560
AbstractArticlePDF–2.4M
12.
A 20 bp Duplication in Exon 2 of the Aristaless-Like Homeobox 4 Gene (ALX4) Is the Candidate Causative Mutation for Tibial Hemimelia Syndrome in Galloway Cattle
Bertram Brenig, Ekkehard Schütz, Michael Hardt, Petra Scheuermann, Markus Freick
PLoS One. 2015; 10(6): e0129208. Published online 2015 Jun 15. doi: 10.1371/journal.pone.0129208
Correction in:
PLoS One. 2024; 19(9): e0310790.
PMCID:
PMC4468193
AbstractArticlePDF–5.4M
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.
Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1
M E P van den Elzen, S R F Twigg, J A C Goos, A J M Hoogeboom, A M W van den Ouweland, A O M Wilkie, I M J Mathijssen
Eur J Hum Genet. 2014 Aug; 22(8): 995–1001. Published online 2013 Nov 27. doi: 10.1038/ejhg.2013.273
PMCID:
PMC4096149
AbstractArticlePDF–701K
15.
X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity
Johanna Christina Czeschik, Peter Bauer, Karin Buiting, Claudia Dufke, Encarna Guillén-Navarro, Diana S Johnson, Udo Koehler, Vanesa López-González, Hermann-Josef Lüdecke, Alison Male, Deborah Morrogh, Angelika Rieß, Andreas Tzschach, Dagmar Wieczorek, Alma Kuechler
Orphanet J Rare Dis. 2013; 8: 146. Published online 2013 Sep 21. doi: 10.1186/1750-1172-8-146
PMCID:
PMC4015352
AbstractArticlePDF–1.8M
16.
A Case of Campomelic Dysplasia without Sex Reversal
Hyoung-Young Kim, Chong Hyun Yoon, Gu-Hwan Kim, Han-Wook Yoo, Byong Sop Lee, Ki Soo Kim, Ellen Ai-Rhan Kim
J Korean Med Sci. 2011 Jan; 26(1): 143–145. Published online 2010 Dec 22. doi: 10.3346/jkms.2011.26.1.143
PMCID:
PMC3012840
AbstractArticlePDF–702K
17.
Frontorhiny, a Distinctive Presentation of Frontonasal Dysplasia Caused by Recessive Mutations in the ALX3 Homeobox Gene
Stephen R.F. Twigg, Sarah L. Versnel, Gudrun Nürnberg, Melissa M. Lees, Meenakshi Bhat, Peter Hammond, Raoul C.M. Hennekam, A. Jeannette M. Hoogeboom, Jane A. Hurst, David Johnson, Alexis A. Robinson, Peter J. Scambler, Dianne Gerrelli, Peter Nürnberg, Irene M.J. Mathijssen, Andrew O.M. Wilkie
Am J Hum Genet. 2009 May 15; 84(5): 698–705. doi: 10.1016/j.ajhg.2009.04.009
PMCID:
PMC2681074
AbstractArticlePDF–1.1M
18.
Distal Xq duplication and functional Xq disomy
Damien Sanlaville, Caroline Schluth-Bolard, Catherine Turleau
Orphanet J Rare Dis. 2009; 4: 4. Published online 2009 Feb 20. doi: 10.1186/1750-1172-4-4
PMCID:
PMC2649904
AbstractArticlePDF–505K
19.
A Unique Form of Mental Retardation with a Distinctive Phenotype Maps to Xq26-q27
Vandana Shashi, Margaret N. Berry, Sarah Shoaf, James J. Sciote, Donald Goldstein, Thomas C. Hart
Am J Hum Genet. 2000 Feb; 66(2): 469–479. Published online 2000 Feb 9. doi: 10.1086/302772
Correction in:
Am J Hum Genet. 2000 Apr; 66(4): 1472.
PMCID:
PMC1288100
AbstractArticlePDF–474K
20.
Mutations that Cause Osteoglophonic Dysplasia Define Novel Roles for FGFR1 in Bone Elongation
Kenneth E. White, Jose M. Cabral, Siobhan I. Davis, Tonya Fishburn, Wayne E. Evans, Shoji Ichikawa, Joanna Fields, Xijie Yu, Nick J. Shaw, Neil J. McLellan, Carole McKeown, David FitzPatrick, Kai Yu, David M. Ornitz, Michael J. Econs
Am J Hum Genet. 2005 Feb; 76(2): 361–367. Published online 2004 Dec 28. doi: 10.1086/427956
PMCID:
PMC1196382
AbstractArticlePDF–296K

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