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About 309 results

ALLMedicine™ Alveolar Capillary Dysplasia Center

Research & Reviews  151 results

De Novo mutation of FOXF1 causes alveolar capillary dysplasia with misalignment of pulm...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8036095
Medicine Deng L, Liu X et. al.

Apr 9th, 2021 - Alveolar capillary dysplasia with misalignment of the pulmonary veins (ACD/MPV) is a rare congenital malformation in neonates that results in severe respiratory distress and pulmonary hypertension. ACD/MPV is caused by mutations in the FOXF1 gene....

Clinical report: Alveolar capillary dysplasia without misalignment of pulmonary veins, ...
https://doi.org/10.1016/j.ejmg.2021.104209
European Journal of Medical Genetics; Vollbach K, Trepels-Kottek S et. al.

Mar 26th, 2021 - We present a male infant with alveolar capillary dysplasia without misalignment of pulmonary veins, hyperinflammation, megalocornea and macrosomia/macrocephaly at birth. Whole-exome sequencing revealed a homozygous 2bp-insertion in the latent tran...

Two cases of different genetic variants of alveolar capillary dysplasia associated with...
https://doi.org/10.1017/S1047951121000676
Cardiology in the Young; Diaz-Frias J, Mark PR et. al.

Mar 5th, 2021 - Alveolar capillary dysplasia with misalignment of the pulmonary veins is an uncommon disorder that affects the lung vasculature development in the neonatal period and leads to pulmonary hypertension. We describe two patients with alveolar capillar...

Incidence of alveolar capillary dysplasia with misalignment of pulmonary veins in infan...
https://doi.org/10.1016/j.earlhumdev.2021.105323
Early Human Development; Onda T, Akimoto T et. al.

Feb 12th, 2021 - Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare and fatal disorder that occurs in the developing fetal lungs; at birth, infants exhibit an oxygenation disorder accompanied by severe pulmonary hypertension (PH) ...

Early prenatal diagnosis of alveolar capillary dysplasia with misalignment of pulmonary...
https://doi.org/10.1002/ajmg.a.62105
American Journal of Medical Genetics. Part A; Puisney-Dakhli C, Gubana F et. al.

Feb 1st, 2021 - First trimester ultrasound screening is an essential fetal examination performed generally at 11-13 weeks of gestation (WG). However, it does not allow for an accurate description of all fetal organs, partly due to their development in progress. M...

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Clinicaltrials.gov  151 results

De Novo mutation of FOXF1 causes alveolar capillary dysplasia with misalignment of pulm...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8036095
Medicine Deng L, Liu X et. al.

Apr 9th, 2021 - Alveolar capillary dysplasia with misalignment of the pulmonary veins (ACD/MPV) is a rare congenital malformation in neonates that results in severe respiratory distress and pulmonary hypertension. ACD/MPV is caused by mutations in the FOXF1 gene....

Clinical report: Alveolar capillary dysplasia without misalignment of pulmonary veins, ...
https://doi.org/10.1016/j.ejmg.2021.104209
European Journal of Medical Genetics; Vollbach K, Trepels-Kottek S et. al.

Mar 26th, 2021 - We present a male infant with alveolar capillary dysplasia without misalignment of pulmonary veins, hyperinflammation, megalocornea and macrosomia/macrocephaly at birth. Whole-exome sequencing revealed a homozygous 2bp-insertion in the latent tran...

Two cases of different genetic variants of alveolar capillary dysplasia associated with...
https://doi.org/10.1017/S1047951121000676
Cardiology in the Young; Diaz-Frias J, Mark PR et. al.

Mar 5th, 2021 - Alveolar capillary dysplasia with misalignment of the pulmonary veins is an uncommon disorder that affects the lung vasculature development in the neonatal period and leads to pulmonary hypertension. We describe two patients with alveolar capillar...

Incidence of alveolar capillary dysplasia with misalignment of pulmonary veins in infan...
https://doi.org/10.1016/j.earlhumdev.2021.105323
Early Human Development; Onda T, Akimoto T et. al.

Feb 12th, 2021 - Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare and fatal disorder that occurs in the developing fetal lungs; at birth, infants exhibit an oxygenation disorder accompanied by severe pulmonary hypertension (PH) ...

Early prenatal diagnosis of alveolar capillary dysplasia with misalignment of pulmonary...
https://doi.org/10.1002/ajmg.a.62105
American Journal of Medical Genetics. Part A; Puisney-Dakhli C, Gubana F et. al.

Feb 1st, 2021 - First trimester ultrasound screening is an essential fetal examination performed generally at 11-13 weeks of gestation (WG). However, it does not allow for an accurate description of all fetal organs, partly due to their development in progress. M...

see more →

News  7 results

NORD Awards Five Research Grants
https://www.mdedge.com/endocrinology/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/134076/rare-diseases/nord-awards-grants-rare-disease-research

Mar 15th, 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.

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