| 1 | ACDMPV, DEL16Q241, FOXF1
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| FOX gene cluster defects in alveolar capillary dysplasia associated with congenital heart disease.
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| Laux D, Malan V, Bajolle F, Boudjemline Y, Amiel J, Bonnet D.
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| Cardiol Young ardiol Young. 2013 Jan 21:1-8. [Epub ahead of print]
2013
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| 2 | ACDMPV, DEL16Q241, FOXF1, GLI2
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| Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder.
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| Szafranski P, Dharmadhikari AV, Brosens E, Gurha P, Kolodziejska KE, Zhishuo O, Dittwald P, Majewski T, Mohan KN, Chen B, Person RE, Tibboel D, de Klein A, Pinner J, Chopra M, Malcolm G, Peters G, Arbuckle S, Guiang SF 3rd, Hustead VA, Jessurun J, Hirsch R, Witte DP, Maystadt I, Sebire N, Fisher R, Langston C, Sen P, Stankiewicz P.
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| Genome Res 23(1):23-33. doi: 10.1101/gr.141887.112. Epub 2012 Oct 3. 2013
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| 3 | ACDMPV, FOXF1
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| Inversion upstream of FOXF1 in a case of lethal alveolar capillary dysplasia with misalignment of pulmonary veins.
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| Parris T, Nik AM, Kotecha S, Langston C, Helou K, Platt C, Carlsson P.
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| Am J Med Genet A 161(4):764-70. doi: 10.1002/ajmg.a.35832. Epub 2013 Feb 26.
2013
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| 4 | ACDMPV, FOXF1
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| Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain.
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| Sen P, Yang Y, Navarro C, Silva I, Szafranski P, Kolodziejska KE, Dharmadhikari AV, Mostafa H, Kozakewich H, Kearney D, Cahill JB, Whitt M, Bilic M, Margraf L, Charles A, Goldblatt J, Gibson K, Lantz PE, Garvin AJ, Petty J, Kiblawi Z, Zuppan C, McConkie-Rosell A, McDonald MT, Peterson-Carmichael SL, Gaede JT, Shivanna B, Schady D, Friedlich PS, Hays SR, Palafoll IV, Siebers-Renelt U, Bohring A, Finn LS, Siebert JR, Galambos C, Nguyen L, Riley M, Chassaing N, Vigouroux A, Rocha G, Fernandes S, Brumbaugh J, Roberts K, Ho-Ming L, Lo IF, Lam S, Gerychova R, Jezova M, Valaskova I, Fellmann F, Afshar K, Giannoni E, Muhlethaler V, Liang J, Beckmann JS, Lioy J, Deshmukh H, Srinivasan L, Swarr DT, Sloman M, Shaw-Smith C, van Loon RL, Hagman C, Sznajer Y, Barrea C, Galant C, Detaille T, Wambach JA, Cole FS, Hamvas A, Prince LS, Diderich KE, Brooks AS, Verdijk RM, Ravindranathan H, Sugo E, Mowat D, Baker ML, Langston C, Welty S, Stankiewicz P.
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| Hum Mutat 34(6):801-11. doi: 10.1002/humu.22313. Epub 2013 Apr 12.
2013
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| 5 | ACDMPV, DEL16Q241
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| 16q24.1 microdeletion in a premature newborn: usefulness of array-based comparative genomic hybridization in persistent pulmonary hypertension of the newborn.
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| Zufferey F, Martinet D, Osterheld MC, Niel-Bütschi F, Giannoni E, Schmutz NB, Xia Z, Beckmann JS, Shaw-Smith C, Stankiewicz P, Langston C, Fellmann F.
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| Pediatr Crit Care Med 12(6):e427-32. doi: 10.1097/PCC.0b013e3182192c96.
2011
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| 6 | ACDMPV, FOXF1
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| Analysis of FOXF1 and the FOX gene cluster in patients with VACTERL association.
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| Agochukwu NB, Pineda-Alvarez DE, Keaton AA, Warren-Mora N, Raam MS, Kamat A, Chandrasekharappa SC, Solomon BD.
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| Eur J Med Genet 54(3):323-8. doi: 10.1016/j.ejmg.2011.01.007. Epub 2011 Feb 26.
2011
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| 7 | ACDMPV, DEL16Q241, DEL16QO, FOXC2, FOXF1
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| Haploinsufficiencies of FOXF1 and FOXC2 genes associated with lethal alveolar capillary dysplasia and congenital heart disease.
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| Yu S, Shao L, Kilbride H, Zwick DL.
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| Am J Med Genet A 152A(5):1257-62.PMID: 20425831 2010
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| 8 | ACDMPV, FOXF1, VACTERL
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| Genetic factors in esophageal atresia, tracheo-esophageal fistula and the VACTERL association: roles for FOXF1 and the 16q24.1 FOX transcription factor gene cluster, and review of the literature.
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| Shaw-Smith C.
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| Eur J Med Genet 53(1):6-13. doi: 10.1016/j.ejmg.2009.10.001. Epub 2009 Oct 12. Review.
2010
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| 9 | ACDMPV, FOXF1
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| Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations.
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| Stankiewicz P, Sen P, Bhatt SS, Storer M, Xia Z, Bejjani BA, Ou Z, Wiszniewska J, Driscoll DJ, Bolivar J, Bauer M, Zackai EH, McDonald-McGinn D, Nowaczyk MM, Murray M, Shaikh TH, Martin V, Tyreman M, Simonic I, Willatt L, Paterson J, Mehta S, Rajan D, Fitzgerald T, Gribble S, Prigmore E, Patel A, Shaffer LG, Carter NP, Cheung SW, Langston C, Shaw-Smith C.
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| Am J Hum Genet 84(6):780-91. Epub 2009 Jun 4.
2009
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