Literature DB >> 26703872

Prenatal Diagnosis of Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins.

Stephanie L Prothro1, Erin Plosa2, Melinda Markham2, Przemyslaw Szafranski3, Pawel Stankiewicz3, Stacy A S Killen4.   

Abstract

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare, lethal cause of neonatal respiratory failure and persistent pulmonary hypertension. We present a presumptive prenatal diagnosis of ACDMPV based on chorionic villus sampling of a FOXF1 mutation in a fetus with extra-pulmonary anomalies often associated with ACDMPV.
Copyright © 2016 Elsevier Inc. All rights reserved.

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Year:  2015        PMID： 26703872      PMCID： PMC5476418          DOI： 10.1016/j.jpeds.2015.11.041

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


  10 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

Review 2.  Alveolar capillary dysplasia with misalignment of the pulmonary veins associated with aortic coarctation and intestinal malrotation.

Authors:  V Arreo Del Val; A Avila-Alvarez; L R Schteffer; F Santos; L Deiros; M J Del Cerro
Journal:  J Perinatol       Date:  2014-10       Impact factor: 2.521

3.  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

4.  Prospective diagnosis of alveolar capillary dysplasia in infants with congenital heart disease.

Authors:  J R Lane; E Siwik; T Preminger; E Stork; M Spector
Journal:  Am J Cardiol       Date:  1999-09-01       Impact factor: 2.778

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

Authors:  Przemyslaw Szafranski; Avinash V Dharmadhikari; Erwin Brosens; Priyatansh Gurha; Katarzyna E Kolodziejska; Ou Zhishuo; Piotr Dittwald; Tadeusz Majewski; K Naga Mohan; Bo Chen; Richard E Person; Dick Tibboel; Annelies de Klein; Jason Pinner; Maya Chopra; Girvan Malcolm; Gregory Peters; Susan Arbuckle; Sixto F Guiang; Virginia A Hustead; Jose Jessurun; Russel Hirsch; David P Witte; Isabelle Maystadt; Neil Sebire; Richard Fisher; Claire Langston; Partha Sen; Paweł Stankiewicz
Journal:  Genome Res       Date:  2012-10-03       Impact factor: 9.043

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

Authors:  Toshima Parris; Ali Moussavi Nik; Sailesh Kotecha; Claire Langston; Khalil Helou; Craig Platt; Peter Carlsson
Journal:  Am J Med Genet A       Date:  2013-02-26       Impact factor: 2.802

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

Authors:  Daniela Laux; Valérie Malan; Fanny Bajolle; Younes Boudjemline; Jeanne Amiel; Damien Bonnet
Journal:  Cardiol Young       Date:  2013-01-21       Impact factor: 1.093

8.  Congenital alveolar capillary dysplasia--an unusual cause of respiratory distress in the newborn.

Authors:  C G Janney; F B Askin; C Kuhn
Journal:  Am J Clin Pathol       Date:  1981-11       Impact factor: 2.493

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

Authors:  Partha Sen; Yaping Yang; Colby Navarro; Iris Silva; Przemyslaw Szafranski; Katarzyna E Kolodziejska; Avinash V Dharmadhikari; Hasnaa Mostafa; Harry Kozakewich; Debra Kearney; John B Cahill; Merrissa Whitt; Masha Bilic; Linda Margraf; Adrian Charles; Jack Goldblatt; Kathleen Gibson; Patrick E Lantz; A Julian Garvin; John Petty; Zeina Kiblawi; Craig Zuppan; Allyn McConkie-Rosell; Marie T McDonald; Stacey L Peterson-Carmichael; Jane T Gaede; Binoy Shivanna; Deborah Schady; Philippe S Friedlich; Stephen R Hays; Irene Valenzuela Palafoll; Ulrike Siebers-Renelt; Axel Bohring; Laura S Finn; Joseph R Siebert; Csaba Galambos; Lananh Nguyen; Melissa Riley; Nicolas Chassaing; Adeline Vigouroux; Gustavo Rocha; Susana Fernandes; Jane Brumbaugh; Kari Roberts; Luk Ho-Ming; Ivan F M Lo; Stephen Lam; Romana Gerychova; Marta Jezova; Iveta Valaskova; Florence Fellmann; Katayoun Afshar; Eric Giannoni; Vincent Muhlethaler; Jinlong Liang; Jacques S Beckmann; Janet Lioy; Hitesh Deshmukh; Lakshmi Srinivasan; Daniel T Swarr; Melissa Sloman; Charles Shaw-Smith; Rosa Laura van Loon; Cecilia Hagman; Yves Sznajer; Catherine Barrea; Christine Galant; Thierry Detaille; Jennifer A Wambach; F Sessions Cole; Aaron Hamvas; Lawrence S Prince; Karin E M Diderich; Alice S Brooks; Robert M Verdijk; Hari Ravindranathan; Ella Sugo; David Mowat; Michael L Baker; Claire Langston; Stephen Welty; Pawel Stankiewicz
Journal:  Hum Mutat       Date:  2013-04-12       Impact factor: 4.878

10.  Prenatal Diagnosis of Cystic Hygroma related to a Deletion of 16q24.1 with Haploinsufficiency of FOXF1 and FOXC2 Genes.

Authors:  Matthew J Garabedian; Donna Wallerstein; Nubia Medina; James Byrne; Robert J Wallerstein
Journal:  Case Rep Genet       Date:  2012-08-28
  10 in total
  6 in total

1.  The S52F FOXF1 Mutation Inhibits STAT3 Signaling and Causes Alveolar Capillary Dysplasia.

Authors:  Arun Pradhan; Andrew Dunn; Vladimir Ustiyan; Craig Bolte; Guolun Wang; Jeffrey A Whitsett; Yufang Zhang; Alexey Porollo; Yueh-Chiang Hu; Rui Xiao; Przemyslaw Szafranski; Donglu Shi; Pawel Stankiewicz; Tanya V Kalin; Vladimir V Kalinichenko
Journal:  Am J Respir Crit Care Med       Date:  2019-10-15       Impact factor: 21.405

2.  Fetal-MRI prenatal diagnosis of severe bilateral lung hypoplasia: alveolar capillary dysplasia case report.

Authors:  Salvatore Zirpoli; Alice Marianna Munari; Mariangela Rustico; Gaetano Bulfamante; Gianluca Lista; Luigina Spaccini; Claudia Cesaretti
Journal:  J Prenat Med       Date:  2016 Jul-Dec

3.  Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.

Authors:  Przemyslaw Szafranski; Tomasz Gambin; Avinash V Dharmadhikari; Kadir Caner Akdemir; Shalini N Jhangiani; Jennifer Schuette; Nihal Godiwala; Svetlana A Yatsenko; Jessica Sebastian; Suneeta Madan-Khetarpal; Urvashi Surti; Rosanna G Abellar; David A Bateman; Ashley L Wilson; Melinda H Markham; Jill Slamon; Fernando Santos-Simarro; María Palomares; Julián Nevado; Pablo Lapunzina; Brian Hon-Yin Chung; Wai-Lap Wong; Yoyo Wing Yiu Chu; Gary Tsz Kin Mok; Eitan Kerem; Joel Reiter; Namasivayam Ambalavanan; Scott A Anderson; David R Kelly; Joseph Shieh; Taryn C Rosenthal; Kristin Scheible; Laurie Steiner; M Anwar Iqbal; Margaret L McKinnon; Sara Jane Hamilton; Kamilla Schlade-Bartusiak; Dawn English; Glenda Hendson; Elizabeth R Roeder; Thomas S DeNapoli; Rebecca Okashah Littlejohn; Daynna J Wolff; Carol L Wagner; Alison Yeung; David Francis; Elizabeth K Fiorino; Morris Edelman; Joyce Fox; Denise A Hayes; Sandra Janssens; Elfride De Baere; Björn Menten; Anne Loccufier; Lieve Vanwalleghem; Philippe Moerman; Yves Sznajer; Amy S Lay; Jennifer L Kussmann; Jasneek Chawla; Diane J Payton; Gael E Phillips; Erwin Brosens; Dick Tibboel; Annelies de Klein; Isabelle Maystadt; Richard Fisher; Neil Sebire; Alison Male; Maya Chopra; Jason Pinner; Girvan Malcolm; Gregory Peters; Susan Arbuckle; Melissa Lees; Zoe Mead; Oliver Quarrell; Richard Sayers; Martina Owens; Charles Shaw-Smith; Janet Lioy; Eileen McKay; Nicole de Leeuw; Ilse Feenstra; Liesbeth Spruijt; Frances Elmslie; Timothy Thiruchelvam; Carlos A Bacino; Claire Langston; James R Lupski; Partha Sen; Edwina Popek; Paweł Stankiewicz
Journal:  Hum Genet       Date:  2016-04-12       Impact factor: 4.132

4.  Alveolar capillary dysplasia with misalignment of the pulmonary veins: clinical, histological, and genetic aspects.

Authors:  Evelien Slot; Gabriëla Edel; Ernest Cutz; Arno van Heijst; Martin Post; Marco Schnater; René Wijnen; Dick Tibboel; Robbert Rottier; Annelies de Klein
Journal:  Pulm Circ       Date:  2018-07-30       Impact factor: 3.017

5.  A Step toward Treating a Lethal Neonatal Lung Disease. STAT3 and Alveolar Capillary Dysplasia.

Authors:  Jennifer A Wambach; Lawrence M Nogee
Journal:  Am J Respir Crit Care Med       Date:  2019-10-15       Impact factor: 21.405

6.  Perturbation of semaphorin and VEGF signaling in ACDMPV lungs due to FOXF1 deficiency.

Authors:  Justyna A Karolak; Tomasz Gambin; Przemyslaw Szafranski; Rebecca L Maywald; Edwina Popek; Jason D Heaney; Paweł Stankiewicz
Journal:  Respir Res       Date:  2021-07-27
  6 in total

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