×
About 218 results

ALLMedicine™ Alveolar Capillary Dysplasia Center

Research & Reviews  79 results

Ultrasound findings in neonates with alveolar capillary dysplasia with misalignment of ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9528008
The Journal of International Medical Research; Lin YB, Xia B et. al.

Sep 30th, 2022 - Alveolar capillary dysplasia with misalignment of the pulmonary veins (ACDMPV) is a rare congenital pulmonary disease that affects newborns. Most patients with ACDMPV are born at full term and are healthy. The main clinical manifestations are refr...

High-level gonosomal mosaicism for a pathogenic non-coding CNV deletion of the lung-spe...
https://doi.org/10.1002/mgg3.2062
Molecular Genetics & Genomic Medicine; Yıldız Bölükbaşı E, Karolak JA et. al.

Sep 21st, 2022 - Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) results from haploinsufficiency of the mesenchymal transcription factor FOXF1 gene. To date, only one case of an ACDMPV-causative CNV deletion inherited from a very-low lev...

Variable expressivity in a four-generation ACDMPV family with a non-coding hypermorphic...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9554184
European Journal of Human Genetics : EJHG; Yıldız Bölükbaşı E, Karolak JA et. al.

Jul 29th, 2022 - Heterozygous single nucleotide variants (SNVs) or copy-number variant deletions involving FOXF1 or its distant lung-specific enhancer on chromosome 16q24.1 have been identified in 80-90% of patients with Alveolar capillary dysplasia with misalignm...

A Morphomolecular Approach to Alveolar Capillary Dysplasia.
https://doi.org/10.1016/j.ajpath.2022.05.004
The American Journal of Pathology; Kamp JC, Neubert L et. al.

Jun 2nd, 2022 - Alveolar capillary dysplasia (ACD) is a rare lung developmental disorder leading to persistent pulmonary arterial hypertension and fatal outcomes in newborns. The current study analyzed the microvascular morphology and the underlying molecular bac...

Do paternal deletions involving the FOXF1 locus on chromosome 16q24.1 manifest with mor...
https://doi.org/10.1016/j.ejmg.2022.104519
European Journal of Medical Genetics; Yıldız Bölükbaşı E, Karolak JA et. al.

May 10th, 2022 - Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare lethal lung developmental disorder in neonates due to heterozygous loss-of-function of the mesenchymal transcription factor gene, FOXF1. Interestingly, unlike ACD...

see more →

News  8 results

NORD Awards Five Research Grants
https://www.mdedge.com/clinicianreviews/article/155761/rare-diseases/nord-awards-five-research-grants

Jan 8th, 2018 - NORD has awarded research grants to the following scientists and institutions: Arun Pradhan, PhD, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio J. Silvio Gutkind, PhD, University of California, San Diego, California D.

NORD Issues RFPs for 2017 Research Grants for Study of Rare Diseases
https://www.mdedge.com/clinicianreviews/article/137747/rare-diseases/nord-issues-rfps-2017-research-grants-study-rare

May 8th, 2017 - US and international researchers are invited to apply for NORD research grants in the 2017 funding cycle. Seven grants are available at this time for study of the following five rare diseases: alveolar capillary dysplasia with misalignment of the.

NORD Awards Grants for Rare Disease Research
https://www.mdedge.com/clinicianreviews/article/134590/rare-diseases/nord-awards-grants-rare-disease-research

Mar 29th, 2017 - The National Organization for Rare Disorders (NORD) has awarded seven new research grants to fund rare disease research. These grants are in response to NORD’s 2016 Requests for Proposals.

October 21 Is Deadline for NORD Research Grant Abstracts
https://www.mdedge.com/neurology/article/116220/rare-diseases/october-21-deadline-nord-research-grant-abstracts

Oct 1st, 2016 - The deadline has been extended to October 21 to submit letters of intent and abstracts for National Organization for Rare Disorders (NORD) research grants for studies related to the following rare diseases: Alveolar capillary dysplasia with misali.

NORD Announces 2016 Grant Opportunities
https://www.mdedge.com/familymedicine/article/113266/rare-diseases/nord-announces-2016-grant-opportunities
Neurology Reviews;

Sep 1st, 2016 - NORD has announced its 2016 requests for proposals for research studies related to the following rare diseases: Alveolar capillary dysplasia with misalignment of the pulmonary veins (ACD/MPV) Appendix cancer and pseudomyxoma peritonei (PMP) Autoim.

see more →