Literature DB >> 8283361

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

S Boggs1, M C Harris, D J Hoffman, R Goel, D McDonald-McGinn, C Langston, E Zackai, E Ruchelli.   

Abstract

Misalignment of pulmonary veins with alveolar capillary dysplasia is recognized as a rare cause of persistent pulmonary hypertension of the neonate. Until now, misalignment of pulmonary veins was thought to be a random occurrence, but its appearance in siblings at our institution suggests that there may be a familial predisposition. There have been reports of variable expression and variable severity in this disease; our report describes this variability in family members.

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Year:  1994        PMID: 8283361     DOI: 10.1016/s0022-3476(94)70267-5

Source DB:  PubMed          Journal:  J Pediatr        ISSN: 0022-3476            Impact factor:   4.406


  23 in total

Review 1.  Alveolar capillary dysplasia.

Authors:  Naomi B Bishop; Pawel Stankiewicz; Robin H Steinhorn
Journal:  Am J Respir Crit Care Med       Date:  2011-03-11       Impact factor: 21.405

2.  Familial persistent pulmonary hypertension of the newborn resulting from misalignment of the pulmonary vessels (congenital alveolar capillary dysplasia).

Authors:  H B Vassal; M Malone; A J Petros; R M Winter
Journal:  J Med Genet       Date:  1998-01       Impact factor: 6.318

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

Authors:  Yukie Ito; Takuma Akimoto; Kazutoshi Cho; Masafumi Yamada; Mishie Tanino; Tomoyuki Dobata; Masanori Kitaichi; Satoru Kumaki; Yoshikazu Kinugawa
Journal:  Eur J Pediatr       Date:  2015-04-22       Impact factor: 3.183

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

Authors:  G C Geddes; D P Dimmock; D A Hehir; D C Helbling; E Kirkpatrick; R Loomba; J Southern; M Waknitz; G Scharer; G G Konduri
Journal:  J Perinatol       Date:  2015-02       Impact factor: 2.521

Review 5.  Neonatal pulmonary hypertension.

Authors:  Robin H Steinhorn
Journal:  Pediatr Crit Care Med       Date:  2010-03       Impact factor: 3.624

6.  Misalignment of pulmonary vessels with alveolar capillary dysplasia: association with atrioventricular septal defect and quadricuspid pulmonary valve.

Authors:  Wilfried Roth; Dietrich Bucsenez; Hendrik Bläker; Irina Berger; Philipp A Schnabel
Journal:  Virchows Arch       Date:  2005-12-06       Impact factor: 4.064

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

Authors:  Partha Sen; Romana Gerychova; Petr Janku; Marta Jezova; Iveta Valaskova; Colby Navarro; Iris Silva; Claire Langston; Stephen Welty; John Belmont; Pawel Stankiewicz
Journal:  Eur J Hum Genet       Date:  2012-09-19       Impact factor: 4.246

Review 8.  An official American Thoracic Society clinical practice guideline: classification, evaluation, and management of childhood interstitial lung disease in infancy.

Authors:  Geoffrey Kurland; Robin R Deterding; James S Hagood; Lisa R Young; Alan S Brody; Robert G Castile; Sharon Dell; Leland L Fan; Aaron Hamvas; Bettina C Hilman; Claire Langston; Lawrence M Nogee; Gregory J Redding
Journal:  Am J Respir Crit Care Med       Date:  2013-08-01       Impact factor: 21.405

9.  Misalignment of lung vessels: diagnostic role of conventional histology and immunohistochemistry.

Authors:  Angela Pucci; Cristina Zanini; Federica Ferrero; Riccardo Arisio; Andrea Valori; Piero Abbruzzese; Marco Forni
Journal:  Virchows Arch       Date:  2003-05-13       Impact factor: 4.064

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

Authors:  Paweł Stankiewicz; Partha Sen; Samarth S Bhatt; Mekayla Storer; Zhilian Xia; Bassem A Bejjani; Zhishuo Ou; Joanna Wiszniewska; Daniel J Driscoll; Melissa K Maisenbacher; Juan Bolivar; Mislen Bauer; Elaine H Zackai; Donna McDonald-McGinn; Małgorzata M J Nowaczyk; Mitzi Murray; Virginia Hustead; Kristin Mascotti; Regina Schultz; Lavinia Hallam; Duncan McRae; Andrew G Nicholson; Robert Newbury; Jane Durham-O'Donnell; Gail Knight; Usha Kini; Tamim H Shaikh; Vicki Martin; Matthew Tyreman; Ingrid Simonic; Lionel Willatt; Joan Paterson; Sarju Mehta; Diana Rajan; Tomas Fitzgerald; Susan Gribble; Elena Prigmore; Ankita Patel; Lisa G Shaffer; Nigel P Carter; Sau Wai Cheung; Claire Langston; Charles Shaw-Smith
Journal:  Am J Hum Genet       Date:  2009-06-04       Impact factor: 11.025

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