PMC Articles for MedGen (Select 382718) - PMC

Select item 104133091.

Novel Intragenic PAX6 Deletion in a Pedigree with Aniridia, Morbid Obesity, and Diabetes

Erin A. Boese, Mallory R. Tollefson, Michael J. Schnieders, Benjamin W. Darbro, Wallace L.M. Alward, John H. Fingert

Curr Eye Res. Author manuscript; available in PMC 2023 Aug 10.

Published in final edited form as: Curr Eye Res. 2020 Jan; 45(1): 91–96. Published online 2019 Aug 14. doi: 10.1080/02713683.2019.1649704

PMCID:: PMC10413309

Article PDF–638K

Select item 67102202.

The genetic architecture of aniridia and Gillespie syndrome

Hildegard Nikki Hall, Kathleen A. Williamson, David R. FitzPatrick

Hum Genet. 2019; 138(8): 881–898. Published online 2018 Sep 22. doi: 10.1007/s00439-018-1934-8

PMCID:: PMC6710220

Article PDF–3.9M

Select item 64766913.

Haploinsufficiency of the brain-derived neurotrophic factor (BDNF) gene is associated with reduced pain sensitivity.

Matthew R. Sapio, Michael J. Iadarola, Danielle M. LaPaglia, Tanya Lehky, Audrey E. Thurm, Kristen M. Danley, Shannon R. Fuhr, Mark D. Lee, Amanda E Huey, Stephen J. Sharp, Jack W. Tsao, Jack A. Yanovski, Andrew J. Mannes, Joan C. Han

Pain. Author manuscript; available in PMC 2019 May 1.

Published in final edited form as: Pain. 2019 May; 160(5): 1070–1081. doi: 10.1097/j.pain.0000000000001485

PMCID:: PMC6476691

Article PDF–1.7M

Select item 56540944.

Sustained endocrine profiles of a girl with WAGR syndrome

Yui Takada, Yasunari Sakai, Yuki Matsushita, Kazuhiro Ohkubo, Yuhki Koga, Satoshi Akamine, Michiko Torio, Yoshito Ishizaki, Masafumi Sanefuji, Hiroyuki Torisu, Chad A. Shaw, Masayo Kagami, Toshiro Hara, Shouichi Ohga

BMC Med Genet. 2017; 18: 117. Published online 2017 Oct 23. doi: 10.1186/s12881-017-0477-5

PMCID:: PMC5654094

Article PDF–626K

Select item 39794145.

LGR4/GPR48 Inactivation Leads to Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome Defects

Tingfang Yi, Jinsheng Weng, Stefan Siwko, Jian Luo, Dali Li, Mingyao Liu

J Biol Chem. 2014 Mar 28; 289(13): 8767–8780. Published online 2014 Feb 11. doi: 10.1074/jbc.M113.530816

PMCID:: PMC3979414

Article PDF–3.9M

Select item 37629436.

Association of brain-derived neurotrophic factor (BDNF) haploinsufficiency with lower adaptive behaviour and reduced cognitive functioning in WAGR/11p13 deletion syndrome

Joan C. Han, Audrey Thurm, Christine Golden Williams, Lisa A. Joseph, Wadih M. Zein, Brian P. Brooks, John A. Butman, Sheila M. Brady, Shannon R. Fuhr, Melanie D. Hicks, Amanda E. Huey, Alyson E. Hanish, Kristen M. Danley, Margarita J. Raygada, Owen M. Rennert, Keri Martinowich, Stephen J. Sharp, Jack W. Tsao, Susan E. Swedo

Cortex. Author manuscript; available in PMC 2014 Nov 1.

Published in final edited form as: Cortex. 2013 Nov-Dec; 49(10): 10.1016/j.cortex.2013.02.009. Published online 2013 Feb 19. doi: 10.1016/j.cortex.2013.02.009

PMCID:: PMC3762943

Article PDF–800K

Select item 25537047.

Brain-Derived Neurotrophic Factor and Obesity in the WAGR Syndrome

Joan C. Han, Qing-Rong Liu, MaryPat Jones, Rebecca L. Levinn, Carolyn M. Menzie, Kyra S. Jefferson-George, Diane C. Adler-Wailes, Ethan L. Sanford, Felicitas L. Lacbawan, George R. Uhl, Owen M. Rennert, Jack A. Yanovski

N Engl J Med. Author manuscript; available in PMC 2008 Sep 28.

Published in final edited form as: N Engl J Med. 2008 Aug 28; 359(9): 918–927. doi: 10.1056/NEJMoa0801119

Correction in:: volume 359 on page 1414

PMCID:: PMC2553704

Article PDF–1.0M

Select item 21738688.

Spatial organization of active and inactive genes and noncoding DNA within chromosome territories

Nicola L. Mahy, Paul E. Perry, Susan Gilchrist, Richard A. Baldock, Wendy A. Bickmore

J Cell Biol. 2002 May 13; 157(4): 579–589. doi: 10.1083/jcb.200111071

PMCID:: PMC2173868

Article PDF–497K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 8

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity