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Items: 1 to 20 of 112

1.

Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations.

Stankiewicz P, Sen P, Bhatt SS, Storer M, Xia Z, Bejjani BA, Ou Z, Wiszniewska J, Driscoll DJ, Maisenbacher MK, Bolivar J, Bauer M, Zackai EH, McDonald-McGinn D, Nowaczyk MM, Murray M, Hustead V, Mascotti K, Schultz R, Hallam L, McRae D, Nicholson AG, Newbury R, Durham-O'Donnell J, Knight G, Kini U, 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.

Am J Hum Genet. 2009 Jun;84(6):780-91. doi: 10.1016/j.ajhg.2009.05.005. Epub 2009 Jun 4. Erratum in: Am J Hum Genet. 2009 Oct;85(4):537. multiple author names added.

2.

Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain.

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.

Hum Mutat. 2013 Jun;34(6):801-11. doi: 10.1002/humu.22313. Epub 2013 Apr 12.

3.

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.

Szafranski P, Gambin T, Dharmadhikari AV, Akdemir KC, Jhangiani SN, Schuette J, Godiwala N, Yatsenko SA, Sebastian J, Madan-Khetarpal S, Surti U, Abellar RG, Bateman DA, Wilson AL, Markham MH, Slamon J, Santos-Simarro F, Palomares M, Nevado J, Lapunzina P, Chung BH, Wong WL, Chu YW, Mok GT, Kerem E, Reiter J, Ambalavanan N, Anderson SA, Kelly DR, Shieh J, Rosenthal TC, Scheible K, Steiner L, Iqbal MA, McKinnon ML, Hamilton SJ, Schlade-Bartusiak K, English D, Hendson G, Roeder ER, DeNapoli TS, Littlejohn RO, Wolff DJ, Wagner CL, Yeung A, Francis D, Fiorino EK, Edelman M, Fox J, Hayes DA, Janssens S, De Baere E, Menten B, Loccufier A, Vanwalleghem L, Moerman P, Sznajer Y, Lay AS, Kussmann JL, Chawla J, Payton DJ, Phillips GE, Brosens E, Tibboel D, de Klein A, Maystadt I, Fisher R, Sebire N, Male A, Chopra M, Pinner J, Malcolm G, Peters G, Arbuckle S, Lees M, Mead Z, Quarrell O, Sayers R, Owens M, Shaw-Smith C, Lioy J, McKay E, de Leeuw N, Feenstra I, Spruijt L, Elmslie F, Thiruchelvam T, Bacino CA, Langston C, Lupski JR, Sen P, Popek E, Stankiewicz P.

Hum Genet. 2016 May;135(5):569-86. doi: 10.1007/s00439-016-1655-9. Epub 2016 Apr 12.

4.

Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite.

Dharmadhikari AV, Gambin T, Szafranski P, Cao W, Probst FJ, Jin W, Fang P, Gogolewski K, Gambin A, George-Abraham JK, Golla S, Boidein F, Duban-Bedu B, Delobel B, Andrieux J, Becker K, Holinski-Feder E, Cheung SW, Stankiewicz P.

BMC Med Genet. 2014 Dec 4;15:128. doi: 10.1186/s12881-014-0128-z.

5.

Analysis of FOXF1 and the FOX gene cluster in patients with VACTERL association.

Agochukwu NB, Pineda-Alvarez DE, Keaton AA, Warren-Mora N, Raam MS, Kamat A, Chandrasekharappa SC, Solomon BD.

Eur J Med Genet. 2011 May-Jun;54(3):323-8. doi: 10.1016/j.ejmg.2011.01.007. Epub 2011 Feb 26.

6.

A novel mutation in FOXF1 gene associated with alveolar capillary dysplasia with misalignment of pulmonary veins, intestinal malrotation and annular pancreas.

Miranda J, Rocha G, Soares P, Morgado H, Baptista MJ, Azevedo I, Fernandes S, Brandão O, Sen P, Guimarães H.

Neonatology. 2013;103(4):241-5. doi: 10.1159/000346062. Epub 2013 Feb 12.

PMID:
23407133
7.

16q24.1 microdeletion in a premature newborn: usefulness of array-based comparative genomic hybridization in persistent pulmonary hypertension of the newborn.

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.

Pediatr Crit Care Med. 2011 Nov;12(6):e427-32. doi: 10.1097/PCC.0b013e3182192c96.

8.

Inversion upstream of FOXF1 in a case of lethal alveolar capillary dysplasia with misalignment of pulmonary veins.

Parris T, Nik AM, Kotecha S, Langston C, Helou K, Platt C, Carlsson P.

Am J Med Genet A. 2013 Apr;161A(4):764-70. doi: 10.1002/ajmg.a.35832. Epub 2013 Feb 26.

PMID:
23444129
9.

A Novel De Novo Pathogenic Variant in FOXF1 in a Newborn with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins.

Ma Y, Jang MA, Yoo HS, Ahn SY, Sung SI, Chang YS, Ki CS, Park WS.

Yonsei Med J. 2017 May;58(3):672-675. doi: 10.3349/ymj.2017.58.3.672.

10.

Narrowing the FOXF1 distant enhancer region on 16q24.1 critical for ACDMPV.

Szafranski P, Herrera C, Proe LA, Coffman B, Kearney DL, Popek E, Stankiewicz P.

Clin Epigenetics. 2016 Nov 3;8:112. eCollection 2016.

11.

A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in human.

Sen P, Gerychova R, Janku P, Jezova M, Valaskova I, Navarro C, Silva I, Langston C, Welty S, Belmont J, Stankiewicz P.

Eur J Hum Genet. 2013 Apr;21(4):474-7. doi: 10.1038/ejhg.2012.171. Epub 2012 Sep 19.

12.
13.

A 16q deletion involving FOXF1 enhancer is associated to pulmonary capillary hemangiomatosis.

Dello Russo P, Franzoni A, Baldan F, Puppin C, De Maglio G, Pittini C, Cattarossi L, Pizzolitto S, Damante G.

BMC Med Genet. 2015 Oct 13;16:94. doi: 10.1186/s12881-015-0241-7.

14.

Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder.

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.

Genome Res. 2013 Jan;23(1):23-33. doi: 10.1101/gr.141887.112. Epub 2012 Oct 3.

15.

Comparative analyses of lung transcriptomes in patients with alveolar capillary dysplasia with misalignment of pulmonary veins and in foxf1 heterozygous knockout mice.

Sen P, Dharmadhikari AV, Majewski T, Mohammad MA, Kalin TV, Zabielska J, Ren X, Bray M, Brown HM, Welty S, Thevananther S, Langston C, Szafranski P, Justice MJ, Kalinichenko VV, Gambin A, Belmont J, Stankiewicz P.

PLoS One. 2014 Apr 10;9(4):e94390. doi: 10.1371/journal.pone.0094390. eCollection 2014.

16.

FOX gene cluster defects in alveolar capillary dysplasia associated with congenital heart disease.

Laux D, Malan V, Bajolle F, Boudjemline Y, Amiel J, Bonnet D.

Cardiol Young. 2013 Oct;23(5):697-704. doi: 10.1017/S1047951112001904. Epub 2013 Jan 21.

PMID:
23331759
17.

Haploinsufficiencies of FOXF1 and FOXC2 genes associated with lethal alveolar capillary dysplasia and congenital heart disease.

Yu S, Shao L, Kilbride H, Zwick DL.

Am J Med Genet A. 2010 May;152A(5):1257-62. doi: 10.1002/ajmg.a.33378.

PMID:
20425831
18.

Novel FOXF1 deep intronic deletion causes lethal lung developmental disorder, alveolar capillary dysplasia with misalignment of pulmonary veins.

Szafranski P, Yang Y, Nelson MU, Bizzarro MJ, Morotti RA, Langston C, Stankiewicz P.

Hum Mutat. 2013 Nov;34(11):1467-71. doi: 10.1002/humu.22395. Epub 2013 Sep 4.

19.

Two deletions overlapping a distant FOXF1 enhancer unravel the role of lncRNA LINC01081 in etiology of alveolar capillary dysplasia with misalignment of pulmonary veins.

Szafranski P, Dharmadhikari AV, Wambach JA, Towe CT, White FV, Grady RM, Eghtesady P, Cole FS, Deutsch G, Sen P, Stankiewicz P.

Am J Med Genet A. 2014 Aug;164A(8):2013-9. doi: 10.1002/ajmg.a.36606. Epub 2014 May 19.

20.

Genomic and Epigenetic Complexity of the FOXF1 Locus in 16q24.1: Implications for Development and Disease.

Dharmadhikari AV, Szafranski P, Kalinichenko VV, Stankiewicz P.

Curr Genomics. 2015 Apr;16(2):107-16. doi: 10.2174/1389202916666150122223252.

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