Format
Sort by

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 137

1.

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
2.

Alveolar capillary dysplasia with misalignment of the pulmonary veins associated with aortic coarctation and intestinal malrotation.

Arreo Del Val V, Avila-Alvarez A, Schteffer LR, Santos F, Deiros L, Del Cerro MJ.

J Perinatol. 2014 Oct;34(10):795-7. doi: 10.1038/jp.2014.94. Review.

PMID:
25263726
3.

Alveolar capillary dysplasia with misalignment of pulmonary [corrected] veins: concordance between pathological and molecular diagnosis.

Castilla-Fernandez Y, Copons-Fernández C, Jordan-Lucas R, Linde-Sillo Á, Valenzuela-Palafoll I, Ferreres Piñas JC, Moreno-Galdó A, Castillo-Salinas F.

J Perinatol. 2013 May;33(5):401-3. doi: 10.1038/jp.2012.63. Erratum in: J Perinatol. 2014 Feb;34(2):166.

PMID:
23624968
4.

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.

5.

A novel FOXF1 mutation associated with alveolar capillary dysplasia and coexisting colobomas and hemihyperplasia.

Geddes GC, Dimmock DP, Hehir DA, Helbling DC, Kirkpatrick E, Loomba R, Southern J, Waknitz M, Scharer G, Konduri GG.

J Perinatol. 2015 Feb;35(2):155-7. doi: 10.1038/jp.2014.187.

PMID:
25627281
6.

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.

7.

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.

8.

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.

9.

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.

10.

A late presenter and long-term survivor of alveolar capillary dysplasia with misalignment of the pulmonary veins.

Ito Y, Akimoto T, Cho K, Yamada M, Tanino M, Dobata T, Kitaichi M, Kumaki S, Kinugawa Y.

Eur J Pediatr. 2015 Aug;174(8):1123-6. doi: 10.1007/s00431-015-2543-3. Epub 2015 Apr 22.

PMID:
25899071
11.

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
12.

Three-dimensional reconstruction identifies misaligned pulmonary veins as intrapulmonary shunt vessels in alveolar capillary dysplasia.

Galambos C, Sims-Lucas S, Abman SH.

J Pediatr. 2014 Jan;164(1):192-5. doi: 10.1016/j.jpeds.2013.08.035. Epub 2013 Sep 27.

13.

Alveolar capillary dysplasia.

Bishop NB, Stankiewicz P, Steinhorn RH.

Am J Respir Crit Care Med. 2011 Jul 15;184(2):172-9. doi: 10.1164/rccm.201010-1697CI. Epub 2011 Mar 11. Review.

14.

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.

15.

Misalignment of pulmonary veins with alveolar capillary dysplasia: affected siblings and variable phenotypic expression.

Boggs S, Harris MC, Hoffman DJ, Goel R, McDonald-McGinn D, Langston C, Zackai E, Ruchelli E.

J Pediatr. 1994 Jan;124(1):125-8.

PMID:
8283361
16.

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.

17.

Expanding the phenotype of alveolar capillary dysplasia (ACD).

Sen P, Thakur N, Stockton DW, Langston C, Bejjani BA.

J Pediatr. 2004 Nov;145(5):646-51.

PMID:
15520767
18.

Intrapulmonary vascular shunt pathways in alveolar capillary dysplasia with misalignment of pulmonary veins.

Galambos C, Sims-Lucas S, Ali N, Gien J, Dishop MK, Abman SH.

Thorax. 2015 Jan;70(1):84-5. doi: 10.1136/thoraxjnl-2014-205851. Epub 2014 Jul 21.

19.

Aortic coarctation associated with alveolar capillary dysplasia and misalignment of the pulmonary veins.

Gamillscheg A, Zobel G, Spuller E, Reiterer F, Beitzke A.

Pediatr Cardiol. 2008 Jan;29(1):191-4. Epub 2007 Sep 15.

PMID:
17874220
20.

Alveolar capillary dysplasia with anorectal anomaly.

Uhrikova Z, Matasova K, Jurko A Jr, Zibolen M.

Indian Pediatr. 2011 Oct;48(10):803-4.

PMID:
22080682
Items per page

Supplemental Content

Write to the Help Desk