Congenital Diaphragmatic Hernia
Last Posted: Nov 28, 2021
- Genomics elucidates both common and rare disease aetiology
A McNeil, EJHG, November 26, 2021
- Genetics of diaphragmatic hernia.
Schreiner Yannick et al. European journal of human genetics : EJHG 2021 10
- The Role of De Novo Variants in Patients with Congenital Diaphragmatic Hernia.
Bendixen Charlotte et al. Genes 2021 12(9)
- Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene.
Qiao Lu, et al. American journal of human genetics 2021 9
- The Role of
Bendixen Charlotte, et al. Genes 2021 9 (9)
- The influence of genetics in congenital diaphragmatic hernia.
Yu Lan et al. Seminars in perinatology 2019 Aug 151169
- Systematic analysis of copy number variation associated with congenital diaphragmatic hernia.
Zhu Qihui, et al. Proceedings of the National Academy of Sciences of the United States of America 2018 0 (20) 5247-5252
- For Debate: The Significance of Etiologic Diagnosis in Neonates with Overgrowth Syndromes. Lesson Learned from the Simpson-Golabi-Behmel Syndrome.
Plachý Luká? et al. Pediatric endocrinology reviews : PER 2018 Sep 16(1) 171-177
- Prenatal profile of Pallister-Killian syndrome: Retrospective analysis of 114 pregnancies, literature review and approach to prenatal diagnosis.
Salzano E et al. American journal of medical genetics. Part A 2018 Oct
- Genetic profile of isolated congenital diaphragmatic hernia revealed by targeted next-generation sequencing.
Kammoun Molka, et al. Prenatal diagnosis 2018 7
- Mutations in BMPR2 are not present in patients with pulmonary hypertension associated with congenital diaphragmatic hernia.
Chiu Joanne S, et al. Journal of pediatric surgery 2017 1
- Increased burden of de novo predicted deleterious variants in complex congenital diaphragmatic hernia.
Yu Lan, et al. Human molecular genetics 2015 8 (16) 4764-73
- SNP microarray abnormalities in a cohort of 28 infants with congenital diaphragmatic hernia.
Stark Zornitza, et al. American journal of medical genetics. Part A 2015 10 (10) 2319-26
- De novo copy number variants are associated with congenital diaphragmatic hernia.
Yu Lan, et al. Journal of medical genetics 2012 10 (10) 650-9
- Congenital diaphragmatic hernia
From NCATS Genetic and Rare Diseases Information Center
- Identification of TCTE3 as a gene responsible for congenital diaphragmatic hernia using a high-resolution single-nucleotide polymorphism array.
Teshiba Risa, et al. Pediatric surgery international 2011 2 (2) 193-8
- Examination of FGFRL1 as a candidate gene for diaphragmatic defects at chromosome 4p16.3 shows that Fgfrl1 null mice have reduced expression of Tpm3, sarcomere genes and Lrtm1 in the diaphragm.
LopezJimenez Nelson, et al. Human genetics 2010 3 (3) 325-36
- Genetic polymorphisms of angiotensin system genes in congenital diaphragmatic hernia associated with persistent pulmonary hypertension.
Solari Valeria, et al. Journal of pediatric surgery 2004 3 (3) 302-6; discussion 302-6
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