PMC Articles for MedGen (Select 481861) - PMC

Result Filters

Links from MedGen

Items: 3

Select item 86062101.

8q21.11 microdeletion syndrome: Delineation of HEY1 as a candidate gene in neurodevelopmental and cardiac defects

Ikhlas Ben Ayed, Amal Bouzid, Fatma Kammoun, Amal souissi, Olfa Jallouli, Salma Mallouli, Souhir Guidara, Salma Loukil, Hajer Aloulou, Fida Jbeli, Sahar Aouichaoui, Dorra Abid, Fatma Abdelhedi, Chahnez Triki, Hassen Kamoun, Saber Masmoudi

Mol Genet Genomic Med. 2021 Nov; 9(11): e1811. Published online 2021 Sep 22. doi: 10.1002/mgg3.1811

PMCID:: PMC8606210

Abstract Article PDF–1007K

Select item 51196332.

8q21.11 Microdeletion in Two Patients with Syndromic Peters Anomaly

Hannah Happ, Kala F. Schilter, Eric Weh, Linda M. Reis, Elena V. Semina

Am J Med Genet A. Author manuscript; available in PMC 2017 Sep 1.

Published in final edited form as: Am J Med Genet A. 2016 Sep; 170(9): 2471–2475. Published online 2016 Jul 5. doi: 10.1002/ajmg.a.37840

PMCID:: PMC5119633

Abstract Article PDF–639K

Select item 31551893.

Characterization of a 8q21.11 Microdeletion Syndrome Associated with Intellectual Disability and a Recognizable Phenotype

María Palomares, Alicia Delicado, Elena Mansilla, María Luisa de Torres, Elena Vallespín, Luis Fernandez, Victor Martinez-Glez, Sixto García-Miñaur, Julián Nevado, Fernando Santos Simarro, Victor L. Ruiz-Perez, Sally Ann Lynch, Freddie H. Sharkey, Ann-Charlotte Thuresson, Göran Annerén, Elga F. Belligni, María Luisa Martínez-Fernández, Eva Bermejo, Beata Nowakowska, Anna Kutkowska-Kazmierczak, Ewa Bocian, Ewa Obersztyn, María Luisa Martínez-Frías, Raoul C.M. Hennekam, Pablo Lapunzina

Am J Hum Genet. 2011 Aug 12; 89(2): 295–301. doi: 10.1016/j.ajhg.2011.06.012