PMC Articles for MedGen (Select 348509) - PMC

Select item 67130691.

Analysis of CDKN1C in fetal growth restriction and pregnancy loss

Jenifer P. Suntharalingham, Miho Ishida, Federica Buonocore, Ignacio del Valle, Nita Solanky, Charalambos Demetriou, Lesley Regan, Gudrun E. Moore, John C. Achermann

Version 2. F1000Res. 2019; 8: 90. Published online 2020 Apr 21. doi: 10.12688/f1000research.15016.2

PMCID:: PMC6713069

Abstract Article PDF–2.3M

Select item 62884132.

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency

Clare V. Logan, Jennie E. Murray, David A. Parry, Andrea Robertson, Roberto Bellelli, Žygimantė Tarnauskaitė, Rachel Challis, Louise Cleal, Valerie Borel, Adeline Fluteau, Javier Santoyo-Lopez, SGP Consortium, Tim Aitman, Inês Barroso, Donald Basel, Louise S. Bicknell, Himanshu Goel, Hao Hu, Chad Huff, Michele Hutchison, Caroline Joyce, Rachel Knox, Amy E. Lacroix, Sylvie Langlois, Shawn McCandless, Julie McCarrier, Kay A. Metcalfe, Rose Morrissey, Nuala Murphy, Irène Netchine, Susan M. O’Connell, Ann Haskins Olney, Nandina Paria, Jill A. Rosenfeld, Mark Sherlock, Erin Syverson, Perrin C. White, Carol Wise, Yao Yu, Margaret Zacharin, Indraneel Banerjee, Martin Reijns, Michael B. Bober, Robert K. Semple, Simon J. Boulton, Jonathan J. Rios, Andrew P. Jackson

Am J Hum Genet. 2018 Dec 6; 103(6): 1038–1044. Published online 2018 Nov 29. doi: 10.1016/j.ajhg.2018.10.024

PMCID:: PMC6288413

Abstract Article PDF–1.0M

Select item 58363873.

A case of an infant suspected as IMAGE syndrome who were finally diagnosed with MIRAGE syndrome by targeted Mendelian exome sequencing

Yoon-Myung Kim, Go Hun Seo, Gu-Hwan Kim, Jung Min Ko, Jin-Ho Choi, Han-Wook Yoo

BMC Med Genet. 2018; 19: 35. Published online 2018 Mar 5. doi: 10.1186/s12881-018-0546-4

PMCID:: PMC5836387

Abstract Article PDF–546K

Select item 41840674.

A Novel Variant in CDKN1C Is Associated With Intrauterine Growth Restriction, Short Stature, and Early-Adulthood-Onset Diabetes

Sarah L. Kerns, Jaime Guevara-Aguirre, Shayne Andrew, Juan Geng, Carolina Guevara, Marco Guevara-Aguirre, Michael Guo, Carole Oddoux, Yiping Shen, Andres Zurita, Ron G. Rosenfeld, Harry Ostrer, Vivian Hwa, Andrew Dauber

J Clin Endocrinol Metab. 2014 Oct; 99(10): E2117–E2122. Published online 2014 Jun 24. doi: 10.1210/jc.2014-1949

PMCID:: PMC4184067

Abstract Article

Select item 37870655.

Increased Protein Stability of CDKN1C Causes a Gain-of-Function Phenotype in Patients with IMAGe Syndrome

Naoki Hamajima, Yoshikazu Johmura, Satoshi Suzuki, Makoto Nakanishi, Shinji Saitoh

PLoS One. 2013; 8(9): e75137. Published online 2013 Sep 30. doi: 10.1371/journal.pone.0075137

PMCID:: PMC3787065

Abstract Article PDF–915K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 5

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity