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Select item 85682111.

Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome

Siham Chafai Elalaoui, Wiam Smaili, Julien Van-Gils, Patricia Fergelot, Ilham Ratbi, Mariam Tajir, Benoit Arveiler, Didier Lacombe, Abdelaziz Sefiani

Afr Health Sci. 2021 Jun; 21(2): 960–967. doi: 10.4314/ahs.v21i2.58

PMCID:: PMC8568211

Abstract Article PDF–379K

Select item 80084872.

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

Abstract Article PDF–1.9M

Select item 75257833.

Severity of oro-dental anomalies in Loeys-Dietz syndrome segregates by gene mutation

Priyam Jani, Quynh C Nguyen, Konstantinia Almpani, Cyrus Keyvanfar, Rashmi Mishra, Denise Liberton, Pamela Orzechowski, Pamela A Frischmeyer-Guerrerio, Olivier Duverger, Janice S Lee

J Med Genet. 2020 Oct; 57(10): 699–707. Published online 2020 Mar 8. doi: 10.1136/jmedgenet-2019-106678

PMCID:: PMC7525783

Abstract Article PDF–10M

Select item 59831724.

A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge–Ropers syndrome

Daniel C. Koboldt, Theresa Mihalic Mosher, Benjamin J. Kelly, Emily Sites, Dennis Bartholomew, Scott E. Hickey, Kim McBride, Richard K. Wilson, Peter White

Cold Spring Harb Mol Case Stud. 2018 Jun; 4(3): a002410. doi: 10.1101/mcs.a002410

PMCID:: PMC5983172

Abstract Article PDF–1.1M

Select item 55890715.

Truncating Mutations in the Last Exon of NOTCH3 Cause Lateral Meningocele Syndrome

Karen W. Gripp, Katherine M. Robbins, Nara L. Sobreira, P. Dane Witmer, Lynne M. Bird, Kristiina Avela, Outi Makitie, Daniela Alves, Jacob S. Hogue, Elaine H. Zackai, Kimberly F. Doheny, Deborah L. Stabley, Katia Sol-Church

Am J Med Genet A. Author manuscript; available in PMC 2017 Sep 7.

Published in final edited form as: Am J Med Genet A. 2015 Feb; 167A(2): 271–281. Published online 2014 Nov 13. doi: 10.1002/ajmg.a.36863

PMCID:: PMC5589071

Abstract Article PDF–719K

Select item 54950326.

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

Abstract Article PDF–1.1M

Select item 52559627.

Bainbridge–Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition

Alma Kuechler, Johanna Christina Czeschik, Elisabeth Graf, Ute Grasshoff, Ulrike Hüffmeier, Tiffany Busa, Stefanie Beck-Woedl, Laurence Faivre, Jean-Baptiste Rivière, Ingrid Bader, Johannes Koch, André Reis, Ute Hehr, Olaf Rittinger, Wolfgang Sperl, Tobias B Haack, Thomas Wieland, Hartmut Engels, Holger Prokisch, Tim M Strom, Hermann-Josef Lüdecke, Dagmar Wieczorek

Eur J Hum Genet. 2017 Feb; 25(2): 183–191. Published online 2016 Nov 30. doi: 10.1038/ejhg.2016.165

PMCID:: PMC5255962

Abstract Article PDF–650K

Select item 35999198.

A boy with homozygous microdeletion of NEUROG1 presents with a congenital cranial dysinnervation disorder [Moebius syndrome variant]

Julia C Schröder, Anne K Läßig, Danuta Galetzka, Angelika Peters, John C Castle, Stefan Diederich, Ulrich Zechner, Wibke Müller-Forell, Annerose Keilmann, Oliver Bartsch

Behav Brain Funct. 2013; 9: 7. Published online 2013 Feb 18. doi: 10.1186/1744-9081-9-7

PMCID:: PMC3599919

Abstract Article PDF–2.6M

Select item 35993779.

A possible cranio-oro-facial phenotype in Cockayne syndrome

Agnès Bloch-Zupan, Morgan Rousseaux, Virginie Laugel, Matthieu Schmittbuhl, Rémy Mathis, Emmanuelle Desforges, Mériam Koob, Ariane Zaloszyc, Hélène Dollfus, Vincent Laugel

Orphanet J Rare Dis. 2013; 8: 9. Published online 2013 Jan 14. doi: 10.1186/1750-1172-8-9

PMCID:: PMC3599377

Abstract Article PDF–3.0M

Select item 259799610.

The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene

Charles E Schwartz, Patrick S Tarpey, Herbert A Lubs, Alain Verloes, Melanie M May, Hiba Risheg, Michael J Friez, P Andrew Futreal, Sarah Edkins, Jon Teague, Sylvain Briault, Cindy Skinner, Astrid Bauer‐Carlin, Richard J Simensen, Sumy M Joseph, Julie R Jones, Josef Gecz, Michael R Stratton, F Lucy Raymond, Roger E Stevenson

J Med Genet. 2007 Jul; 44(7): 472–477. Published online 2007 Mar 16. doi: 10.1136/jmg.2006.048637