Literature DB >> 24675018

Alveolar capillary dysplasia with multiple congenital anomalies and bronchoscopic airway abnormalities.

V Bellamkonda-Athmaram1, C G Sulman2, D G Basel1, J Southern3, G G Konduri1, M A Basir1.   

Abstract

Alveolar capillary dysplasia is a rare and fatal disease of newborn infants. Here we describe a patient with alveolar capillary dysplasia, multiple congenital anomalies, a novel genetic mutation and previously undocumented airway findings on bronchoscopy. Knowledge of these associations may help diagnose this rare disorder in neonates with hypoxemic respiratory failure.

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Year:  2014        PMID： 24675018     DOI： 10.1038/jp.2013.175

Source DB:  PubMed          Journal:  J Perinatol        ISSN： 0743-8346            Impact factor:   2.521


  14 in total

1.  FoxF is essential for FGF-induced migration of heart progenitor cells in the ascidian Ciona intestinalis.

Authors:  Jeni Beh; Weiyang Shi; Mike Levine; Brad Davidson; Lionel Christiaen
Journal:  Development       Date:  2007-09       Impact factor: 6.868

2.  16q24.1 microdeletion in a premature newborn: usefulness of array-based comparative genomic hybridization in persistent pulmonary hypertension of the newborn.

Authors:  Flore Zufferey; Danielle Martinet; Maria-Chiara Osterheld; Florence Niel-Bütschi; Eric Giannoni; Nathalie Besuchet Schmutz; Zhilian Xia; Jacques S Beckmann; Charles Shaw-Smith; Pawel Stankiewicz; Claire Langston; Florence Fellmann
Journal:  Pediatr Crit Care Med       Date:  2011-11       Impact factor: 3.624

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

Authors:  Shihui Yu; Lei Shao; Howard Kilbride; David L Zwick
Journal:  Am J Med Genet A       Date:  2010-05       Impact factor: 2.802

4.  Expanding the phenotype of alveolar capillary dysplasia (ACD).

Authors:  Partha Sen; Nivedita Thakur; David W Stockton; Claire Langston; Bassem A Bejjani
Journal:  J Pediatr       Date:  2004-11       Impact factor: 4.406

5.  Profound hypoxemia and pulmonary hypertension in a 7-month-old infant: late presentation of alveolar capillary dysplasia.

Authors:  Sheikh Ahmed; Veda Ackerman; Philip Faught; Claire Langston
Journal:  Pediatr Crit Care Med       Date:  2008-11       Impact factor: 3.624

6.  FoxF1 and FoxL1 link hedgehog signaling and the control of epithelial proliferation in the developing stomach and intestine.

Authors:  Blair B Madison; Lindsay B McKenna; Diane Dolson; Douglas J Epstein; Klaus H Kaestner
Journal:  J Biol Chem       Date:  2008-12-02       Impact factor: 5.157

7.  Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation.

Authors:  Gregory Ryan Handrigan; David Chitayat; Anath C Lionel; Maury Pinsk; Andrea K Vaags; Christian R Marshall; Sarah Dyack; Luis F Escobar; Bridget A Fernandez; Joseph C Stegman; Jill A Rosenfeld; Lisa G Shaffer; McKinsey Goodenberger; Jennelle C Hodge; Jason E Cain; Riyana Babul-Hirji; Dimitri J Stavropoulos; Verna Yiu; Stephen W Scherer; Norman D Rosenblum
Journal:  J Med Genet       Date:  2013-01-18       Impact factor: 6.318

8.  Foxf1 haploinsufficiency reduces Notch-2 signaling during mouse lung development.

Authors:  Vladimir V Kalinichenko; Galina A Gusarova; Il-Man Kim; Brian Shin; Helena M Yoder; Jean Clark; Alexander M Sapozhnikov; Jeffrey A Whitsett; Robert H Costa
Journal:  Am J Physiol Lung Cell Mol Physiol       Date:  2003-11-07       Impact factor: 5.464

9.  Late presentation of alveolar capillary dysplasia in an infant.

Authors:  Venkat Shankar; Anwarul Haque; Joyce Johnson; John Pietsch
Journal:  Pediatr Crit Care Med       Date:  2006-03       Impact factor: 3.624

Review 10.  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.

Authors:  Charles Shaw-Smith
Journal:  Eur J Med Genet       Date:  2009-10-12       Impact factor: 2.708
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  3 in total

1.  Two autopsy cases of siblings with alveolar capillary dysplasia: clinical and post-mortem issues.

Authors:  Caterina Petetta; Lucia Tattoli; Giovanni Botta; Giancarlo Di Vella
Journal:  Forensic Sci Med Pathol       Date:  2019-09-11       Impact factor: 2.007

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

Authors:  Avinash V Dharmadhikari; Przemyslaw Szafranski; Vladimir V Kalinichenko; Pawel Stankiewicz
Journal:  Curr Genomics       Date:  2015-04       Impact factor: 2.236

3.  Ultrasound findings in neonates with alveolar capillary dysplasia with misalignment of the pulmonary veins: report of two cases.

Authors:  Yan-Bing Lin; Bei Xia; Juan Cao; Zi-Jian Tang
Journal:  J Int Med Res       Date:  2022-09       Impact factor: 1.573
  3 in total

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