PMC Articles for MedGen (Select 387792) - PMC

Select item 84729101.

Biallelic CDK9 variants as a cause of a new multiple-malformation syndrome with retinal dystrophy mimicking the CHARGE syndrome

Sachiko Nishina, Katsuhiro Hosono, Shizuka Ishitani, Kenjiro Kosaki, Tadashi Yokoi, Tomoyo Yoshida, Kaoru Tomita, Maki Fukami, Hirotomo Saitsu, Tsutomu Ogata, Tohru Ishitani, Yoshihiro Hotta, Noriyuki Azuma

J Hum Genet. 2021; 66(10): 1021–1027. Published online 2021 Feb 27. doi: 10.1038/s10038-021-00909-x

PMCID:: PMC8472910

Abstract Article PDF–4.7M

Select item 81574322.

Ichthyosis: case report in a Colombian man with genetic alterations in ABCA12 and HRNR genes

Ruben D. Arias-Pérez, Salomón Gallego-Quintero, Natalia A. Taborda, Jorge E. Restrepo, Renato Zambrano-Cruz, William Tamayo-Agudelo, Patricia Bermúdez, Constanza Duque, Ismael Arroyave, Johanna A. Tejada-Moreno, Andrés Villegas-Lanau, Alejandro Mejía-García, Wildeman Zapata, Juan C. Hernandez, Gina Cuartas-Montoya

BMC Med Genomics. 2021; 14: 140. Published online 2021 May 26. doi: 10.1186/s12920-021-00987-y

PMCID:: PMC8157432

Abstract Article PDF–1.2M

Select item 78965273.

La trisomie 18 ou syndrome d'Edwards en post-natal: étude descriptive au Centre Hospitalier Universitaire de Casablanca et revue de littérature

Fatima Zahra Outtaleb, Rachida Errahli, Nora Imelloul, Ghizlane Jabrane, Nadia Serbati, Hind Dehbi

Pan Afr Med J. 2020; 37: 309. French. Publication en ligne 2020 déc. 3. DOI : 10.11604/pamj.2020.37.309.26205

PMCID:: PMC7896527

Abstract Article PDF–310K

Select item 50307374.

The status of dermatoglyphics as a biomarker of Tel Hashomer camptodactyly syndrome: a review of the literature

Buddhika T. B. Wijerathne, Robert J. Meier, Suneth B. Agampodi

J Med Case Rep. 2016; 10: 258. Published online 2016 Sep 20. doi: 10.1186/s13256-016-1048-7

PMCID:: PMC5030737

Abstract Article PDF–543K

Select item 48803405.

Exome Sequencing of a Pedigree Reveals S339L Mutation in the TLN2 Gene as a Cause of Fifth Finger Camptodactyly

Hao Deng, Sheng Deng, Hongbo Xu, Han-Xiang Deng, Yulan Chen, Lamei Yuan, Xiong Deng, Shengbo Yang, Liping Guan, Jianguo Zhang, Hong Yuan, Yi Guo

PLoS One. 2016; 11(5): e0155180. Published online 2016 May 25. doi: 10.1371/journal.pone.0155180

PMCID:: PMC4880340

Abstract Article PDF–1.5M

Select item 35952236.

Genome-Wide Analysis Using Exon Arrays Demonstrates an Important Role for Expression of Extra-Cellular Matrix, Fibrotic Control and Tissue Remodelling Genes in Dupuytren's Disease

Helen B. Forrester, Peter Temple-Smith, Seungmin Ham, David de Kretser, Graeme Southwick, Carl N. Sprung

PLoS One. 2013; 8(3): e59056. Published online 2013 Mar 12. doi: 10.1371/journal.pone.0059056

PMCID:: PMC3595223

Abstract Article PDF–1.3M

Select item 32441157.

A New Distal Arthrogryposis Syndrome Characterized by Plantar Flexion Contractures

D.A. Stevenson, K.J. Swoboda, R.K. Sanders, M. Bamshad

Am J Med Genet A. Author manuscript; available in PMC 2011 Dec 21.

Published in final edited form as: Am J Med Genet A. 2006 Dec 15; 140(24): 2797–2801. doi: 10.1002/ajmg.a.31528

PMCID:: PMC3244115

Abstract Article PDF–829K

Select item 31095108.

Distinctive Phenotype in 9 Patients with Deletion of Chromosome 1q24-q25

Deepika D’Cunha Burkardt, Jill A. Rosenfeld, Maria Helgeson, Brad Angle, Valerie Banks, Wendy Smith, Karen W. Gripp, Jessica Moline, Rocio Moran, Dmitriy M. Niyazov, Cathy Stevens, Elaine Zackai, Robert Roger Lebel, Douglas Ashley, Nancy Kramer, Ralph S. Lachman, John M. Graham, Jr.

Am J Med Genet A. Author manuscript; available in PMC 2012 Jun 1.

Published in final edited form as: Am J Med Genet A. 2011 Jun; 155(6): 1336–1351. Published online 2011 May 5. doi: 10.1002/ajmg.a.34049