atrioventricular septal defect

Literature (3)

Literature for DOID 0050651: atrioventricular septal defect

Xenbase Articles Publications associated with this Disease Ontology entry or its descendants

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Conservation and divergence of protein pathways in the vertebrate heart., Federspiel JD,Tandon P,Wilczewski CM,Wasson L,Herring LE,Venkatesh SS,Cristea IM,Conlon FL, PLoS Biol. September 1, 2019; 17(9):1545-7885.
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections., Jeffries L,Mis EK,McWalter K,Donkervoort S,Brodsky NN,Carpier JM,Ji W,Ionita C,Roy B,Morrow JS,Darbinyan A,Iyer K,Aul RB,Banka S,Chao KR,Cobbold L,Cohen S,Custodio HM,Drummond-Borg M,Elmslie F,Finanger E,Hainline BE,Helbig I,Hewson S,Hu Y,Jackson A,Josifova D,Konstantino M,Leach ME,Mak B,McCormick D,McGee E,Nelson S,Nguyen J,Nugent K,Ortega L,Goodkin HP,Roeder E,Roy S,Sapp K,Saade D,Sisodiya SM,Stals K,Towner S,Wilson W,Khokha MK,Bönnemann CG,Lucas CL,Lakhani SA, Genet Med. February 7, 2023; 26(2):1530-0366.
Fbrsl1 is required for heart development in Xenopus laevis and de novo variants in FBRSL1 can cause human heart defects., Berger H,Gerstner S,Horstmann MF,Pauli S,Borchers A, Dis Model Mech. June 1, 2024; 17(6):1754-8411.

Conservation and divergence of protein pathways in the vertebrate heart., Federspiel JD,Tandon P,Wilczewski CM,Wasson L,Herring LE,Venkatesh SS,Cristea IM,Conlon FL, PLoS Biol. September 1, 2019; 17(9):1545-7885.

Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections., Jeffries L,Mis EK,McWalter K,Donkervoort S,Brodsky NN,Carpier JM,Ji W,Ionita C,Roy B,Morrow JS,Darbinyan A,Iyer K,Aul RB,Banka S,Chao KR,Cobbold L,Cohen S,Custodio HM,Drummond-Borg M,Elmslie F,Finanger E,Hainline BE,Helbig I,Hewson S,Hu Y,Jackson A,Josifova D,Konstantino M,Leach ME,Mak B,McCormick D,McGee E,Nelson S,Nguyen J,Nugent K,Ortega L,Goodkin HP,Roeder E,Roy S,Sapp K,Saade D,Sisodiya SM,Stals K,Towner S,Wilson W,Khokha MK,Bönnemann CG,Lucas CL,Lakhani SA, Genet Med. February 7, 2023; 26(2):1530-0366.

Fbrsl1 is required for heart development in Xenopus laevis and de novo variants in FBRSL1 can cause human heart defects., Berger H,Gerstner S,Horstmann MF,Pauli S,Borchers A, Dis Model Mech. June 1, 2024; 17(6):1754-8411.