PMC Articles for MedGen (Select 335186) - PMC

Michael Field, Patrick S. Tarpey, Raffaella Smith, Sarah Edkins, Sarah O’Meara, Claire Stevens, Calli Tofts, Jon Teague, Adam Butler, Ed Dicks, Syd Barthorpe, Gemma Buck, Jennifer Cole, Kristian Gray, Kelly Halliday, Katy Hills, Andrew Jenkinson, David Jones, Andrew Menzies, Tatiana Mironenko, Janet Perry, Keiran Raine, David Richardson, Rebecca Shepherd, Alexandra Small, Jennifer Varian, Sofie West, Sara Widaa, Uma Mallya, Richard Wooster, Jenny Moon, Ying Luo, Helen Hughes, Marie Shaw, Kathryn L. Friend, Mark Corbett, Gillian Turner, Michael Partington, John Mulley, Martin Bobrow, Charles Schwartz, Roger Stevenson, Jozef Gecz, Michael R. Stratton, P. Andrew Futreal, F. Lucy Raymond

Am J Hum Genet. 2007 Aug; 81(2): 367–374. Published online 2007 Jun 26. doi: 10.1086/520677

PMCID:: PMC1950797

Abstract Article PDF–444K

Select item 37279926.

Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations

Claudia Voigt, André Mégarbané, Kornelia Neveling, Johanna Christina Czeschik, Beate Albrecht, Bert Callewaert, Florian von Deimling, Andreas Hehr, Marie Falkenberg Smeland, Rainer König, Alma Kuechler, Carlo Marcelis, Maria Puiu, Willie Reardon, Hilde Monica Frostad Riise Stensland, Bernd Schweiger, Marloes Steehouwer, Christopher Teller, Marcel Martin, Sven Rahmann, Ute Hehr, Han G Brunner, Hermann-Josef Lüdecke, Dagmar Wieczorek

Orphanet J Rare Dis. 2013; 8: 110. Published online 2013 Jul 24. doi: 10.1186/1750-1172-8-110

PMCID:: PMC3727992

Abstract Article PDF–1.7M

Select item 65495557.

Homozygous noncanonical splice variant in LSM1 in two siblings with multiple congenital anomalies and global developmental delay

Volkan Okur, Charles A. LeDuc, Edwin Guzman, Zaheer M. Valivullah, Kwame Anyane-Yeboa, Wendy K. Chung

Cold Spring Harb Mol Case Stud. 2019 Jun; 5(3): a004101. doi: 10.1101/mcs.a004101

PMCID:: PMC6549555

Abstract Article PDF–1.3M

Select item 66988808.

De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder

Lot Snijders Blok, Tjitske Kleefstra, Hanka Venselaar, Saskia Maas, Hester Y. Kroes, Augusta M.A. Lachmeijer, Koen L.I. van Gassen, Helen V. Firth, Susan Tomkins, Simon Bodek, The DDD Study, Katrin Õunap, Monica H. Wojcik, Christopher Cunniff, Katherine Bergstrom, Zoë Powis, Sha Tang, Deepali N. Shinde, Catherine Au, Alejandro D. Iglesias, Kosuke Izumi, Jacqueline Leonard, Ahmad Abou Tayoun, Samuel W. Baker, Marco Tartaglia, Marcello Niceta, Maria Lisa Dentici, Nobuhiko Okamoto, Noriko Miyake, Naomichi Matsumoto, Antonio Vitobello, Laurence Faivre, Christophe Philippe, Christian Gilissen, Laurens Wiel, Rolph Pfundt, Pelagia Deriziotis, Han G. Brunner, Simon E. Fisher

Am J Hum Genet. 2019 Aug 1; 105(2): 403–412. Published online 2019 Jul 11. doi: 10.1016/j.ajhg.2019.06.007

PMCID:: PMC6698880

Abstract Article PDF–2.3M

Select item 75495489.

Lacrimo‐auriculo‐dento‐digital syndrome: A novel mutation in a Korean family and review of literature

Young Hye Ryu, Jong Kyun Chae, Jung‐Wook Kim, Soyoung Lee

Mol Genet Genomic Med. 2020 Oct; 8(10): e1412. Published online 2020 Jul 26. doi: 10.1002/mgg3.1412

PMCID:: PMC7549548

Abstract Article PDF–833K

Select item 1033034410.

Alessandra Rossi, Lot Snijders Blok, Sonja Neuser, Chiara Klöckner, Konrad Platzer, Laurence Olivier Faivre, Heike Weigand, Maria L. Dentici, Marco Tartaglia, Marcello Niceta, Paolo Alfieri, Siddharth Srivastava, David Coulter, Lacey Smith, Kristin Vinorum, Gerarda Cappuccio, Nicola Brunetti-Pierri, Deniz Torun, Mutluay Arslan, Mathilde F. Lauridsen, Oliver Murch, Rachel Irving, Sally A. Lynch, Sarju G. Mehta, Jenny Carmichael, Evelien Zonneveld-Huijssoon, Bert de Vries, Tjitske Kleefstra, Katrine M. Johannesen, Ian T. Westphall, Susan S. Hughes, Sarah Smithson, Julie Evans, Tracy Dudding-Byth, Marleen Simon, Ellen van Binsbergen, Johanna C. Herkert, Gea Beunders, Henry Oppermann, Mert Bakal, Rikke S. Møller, Guido Rubboli, Allan Bayat

Clin Genet. Author manuscript; available in PMC 2024 Aug 1.

Published in final edited form as: Clin Genet. 2023 Aug; 104(2): 186–197. Published online 2023 May 10. doi: 10.1111/cge.14353

PMCID:: PMC10330344

Abstract Article PDF–1.7M

Select item 534481511.

Effectiveness of Ear Splint Therapy for Ear Deformities

Ji Eun Woo, Yul-Hyun Park, Eun Ji Park, Kyu Yong Park, Sun Hee Kim, Shin-Young Yim

Ann Rehabil Med. 2017 Feb; 41(1): 138–147. Published online 2017 Feb 28. doi: 10.5535/arm.2017.41.1.138

PMCID:: PMC5344815

Abstract Article PDF–1.9M

Select item 504154012.

The presence of two rare genomic syndromes, 1q21 deletion and Xq28 duplication, segregating independently in a family with intellectual disability

Kyungsoo Ha, Yiping Shen, Tyler Graves, Cheol-Hee Kim, Hyung-Goo Kim

Mol Cytogenet. 2016; 9: 74. Published online 2016 Sep 29. doi: 10.1186/s13039-016-0286-0

PMCID:: PMC5041540

Abstract Article PDF–1.9M

Select item 502099713.

Pitt-Hopkins syndrome: Mental retardation, psychomotor and developmental delays with facial dysmorphism

Jorge Arturo Avina Fierro, Daniel Alejandro Hernández Avina

J Pediatr Genet. 2014 Sep; 3(3): 141–145. doi: 10.3233/PGE-14094

PMCID:: PMC5020997

Summary PDF–306K

Select item 428782414.

De novo 393 kb microdeletion of 7p11.2 characterized by aCGH in a boy with psychomotor retardation and dysmorphic features

Konstantinos Varvagiannis, Ioannis Papoulidis, Theodora Koromila, Konstantinos Kefalas, Monika Ziegler, Thomas Liehr, Michael B. Petersen, Yolanda Gyftodimou, Emmanouil Manolakos

Meta Gene. 2014 Dec; 2: 274–282. Published online 2014 Apr 15. doi: 10.1016/j.mgene.2014.03.004

PMCID:: PMC4287824

Abstract Article PDF–412K

Select item 367126715.

A Case with Mega Cisterna Magna Renal and Ear Anomalies: Is This a New Syndrome?

Çapan Konca, Bahar Caliskan, Mehmet Ali Tas

Case Rep Med. 2013; 2013: 149656. Published online 2013 May 15. doi: 10.1155/2013/149656

PMCID:: PMC3671267

Abstract Article PDF–3.1M

Select item 347726016.

Growth retardation, intellectual disability, facial anomalies, cataract, thoracic hypoplasia and skeletal abnormalities: a novel phenotype

Hitesh Shah, Susanne Bens, Almuth Caliebe, John M. Graham, Jr., Katta Mohan Girisha

Am J Med Genet A. Author manuscript; available in PMC 2013 Nov 1.

Published in final edited form as: Am J Med Genet A. 2012 Nov; 158A(11): 2941–2945. Published online 2012 Sep 17. doi: 10.1002/ajmg.a.35618

PMCID:: PMC3477260

Abstract Article PDF–1.1M

Select item 775848517.

An Essential Requirement for Fgf10 in Pinna Extension Sheds Light on Auricle Defects in LADD Syndrome

Yang Zhang, Juan M. Fons, Mohammad K. Hajihosseini, Tianyu Zhang, Abigail S. Tucker

Front Cell Dev Biol. 2020; 8: 609643. Published online 2020 Dec 10. doi: 10.3389/fcell.2020.609643

PMCID:: PMC7758485

Abstract Article PDF–13M

Select item 1144270318.

CHARGE syndrome in a child with a CHD7 variant and a novel pathogenic SOX2 variant: A case report

Miki Kamimura, Hirohito Shima, Erina Suzuki, Chisumi Sogi, Ikuma Fujiwara, Mika Adachi, Hidenori Haruna, Noriyuki Takubo, Maki Fukami, Atsuo Kikuchi, Junko Kanno

Clin Pediatr Endocrinol. 2024 Oct; 33(4): 214–218. Published online 2024 Jul 7. doi: 10.1297/cpe.2024-0006

PMCID:: PMC11442703

Abstract Article PDF–862K

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