PMC Articles for MedGen (Select 335186) - PMC

Select item 103372721.

Assessment of a novel variation in DHODH gene causing Miller syndrome: The first report in Chinese population

Kai Yang, Li‐Man Fu, Xiao‐Yang Chu, Jing Zhang, Wen‐Qi Chen, You‐Sheng Yan, Yi‐Peng Wang, Dong‐Liang Zhang, Cheng‐Hong Yin, Qing Guo

Mol Genet Genomic Med. 2023 Jul; 11(7): e2186. Published online 2023 Apr 30. doi: 10.1002/mgg3.2186

PMCID:: PMC10337272

Article PDF–1.8M

Select item 81718222.

耳廓软骨多点悬吊固定于颅面深筋膜矫正轻中度杯状耳

再洪陈, 晓波游, 震蔡, 全刘, 丽平杜, 寒张, 玮崔, 阳盛

Zhongguo Xiu Fu Chong Jian Wai Ke Za Zhi. 2020 Jan; 34(1): 83–86. Chinese. doi: 10.7507/1002-1892.201905130

PMCID:: PMC8171822

Article PDF–7.9M

Select item 77584853.

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

Article PDF–13M

Select item 75495484.

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

Article PDF–833K

Select item 66988805.

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

Article PDF–2.3M

Select item 65495556.

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

Article PDF–1.3M

Select item 53448157.

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

Article PDF–1.9M

Select item 50415408.

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

Article PDF–1.9M

Select item 50209979.

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 428782410.

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

Article PDF–412K

Select item 372799211.

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

Article PDF–1.7M

Select item 367126712.

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

Article PDF–3.1M

Select item 347726013.

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

Article PDF–1.1M

Select item 195079714.

Mutations in the BRWD3 Gene Cause X-Linked Mental Retardation Associated with Macrocephaly

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

Article PDF–444K

Select item 104948315.

Phenotypic variation in LADD syndrome.

E Thompson, M Pembrey, J M Graham

J Med Genet. 1985 Oct; 22(5): 382–385. doi: 10.1136/jmg.22.5.382

PMCID:: PMC1049483

Summary Page Browse PDF–674K

Select item 101595816.

Brachydactyly type C associated with shortening of the hallux.

J M Rowe-Jones, A L Moss, M A Patton

J Med Genet. 1992 May; 29(5): 346–348. doi: 10.1136/jmg.29.5.346

PMCID:: PMC1015958

Summary Page Browse PDF–1.1M

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 16

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity