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Year Number of Results
1981 1
2000 1
2001 1
2004 1
2005 1
2007 1
2008 1
2009 3
2010 7
2011 5
2012 2
2013 8
2014 8
2015 11
2016 7
2017 11
2018 11
2019 2
2020 9
2021 16
2022 16
2023 9
2024 4

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116 results

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Page 1
Pediatric pulmonary hypertension.
Ivy DD, Abman SH, Barst RJ, Berger RM, Bonnet D, Fleming TR, Haworth SG, Raj JU, Rosenzweig EB, Schulze Neick I, Steinhorn RH, Beghetti M. Ivy DD, et al. J Am Coll Cardiol. 2013 Dec 24;62(25 Suppl):D117-26. doi: 10.1016/j.jacc.2013.10.028. J Am Coll Cardiol. 2013. PMID: 24355636 Free article. Review.
Pulmonary hypertension (PH) is a rare disease in newborns, infants, and children that is associated with significant morbidity and mortality. ...Incidence data from the Netherlands has revealed an annual incidence and point prevalence of 0.7 and 4.4 for idiopathic p …
Pulmonary hypertension (PH) is a rare disease in newborns, infants, and children that is associated with significant morbidity …
Outcome of congenital diaphragmatic hernia with indication for Fontan procedure.
Shiono N, Inamura N, Takahashi S, Nagata K, Fujino Y, Hayakawa M, Usui N, Okuyama H, Kanamori Y, Taguchi T, Minakami H. Shiono N, et al. Pediatr Int. 2014 Aug;56(4):553-8. doi: 10.1111/ped.12322. Epub 2014 May 30. Pediatr Int. 2014. PMID: 24612014
BACKGROUND: The aim of this study was to clarify the outcome of patients with cardiovascular malformation (CVM) among those with congenital diaphragmatic hernia (CDH) who are indicated for the Fontan procedure. ...CONCLUSIONS: Patients with indications for th …
BACKGROUND: The aim of this study was to clarify the outcome of patients with cardiovascular malformation (CVM) among those with congenit …
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.
Hardcastle A, Berry AM, Campbell IM, Zhao X, Liu P, Gerard AE, Rosenfeld JA, Sisoudiya SD, Hernandez-Garcia A, Loddo S, Di Tommaso S, Novelli A, Dentici ML, Capolino R, Digilio MC, Graziani L, Rustad CF, Neas K, Ferrero GB, Brusco A, Di Gregorio E, Wellesley D, Beneteau C, Joubert M, Van Den Bogaert K, Boogaerts A, McMullan DJ, Dean J, Giuffrida MG, Bernardini L, Varghese V, Shannon NL, Harrison RE, Lam WWK, McKee S, Turnpenny PD, Cole T, Morton J, Eason J, Jones MC, Hall R, Wright M, Horridge K, Shaw CA, Chung WK, Scott DA. Hardcastle A, et al. Am J Med Genet A. 2022 Oct;188(10):2958-2968. doi: 10.1002/ajmg.a.62919. Epub 2022 Jul 29. Am J Med Genet A. 2022. PMID: 35904974 Free PMC article.
Congenital diaphragmatic hernia (CDH) can occur in isolation or in conjunction with other birth defects (CDH+). ...
Congenital diaphragmatic hernia (CDH) can occur in isolation or in conjunction with other birth defects (CDH+). ...
Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene.
Qiao L, Xu L, Yu L, Wynn J, Hernan R, Zhou X, Farkouh-Karoleski C, Krishnan US, Khlevner J, De A, Zygmunt A, Crombleholme T, Lim FY, Needelman H, Cusick RA, Mychaliska GB, Warner BW, Wagner AJ, Danko ME, Chung D, Potoka D, Kosiński P, McCulley DJ, Elfiky M, Azarow K, Fialkowski E, Schindel D, Soffer SZ, Lyon JB, Zalieckas JM, Vardarajan BN, Aspelund G, Duron VP, High FA, Sun X, Donahoe PK, Shen Y, Chung WK. Qiao L, et al. Am J Hum Genet. 2021 Oct 7;108(10):1964-1980. doi: 10.1016/j.ajhg.2021.08.011. Epub 2021 Sep 20. Am J Hum Genet. 2021. PMID: 34547244 Free PMC article.
Congenital diaphragmatic hernia (CDH) is a severe congenital anomaly that is often accompanied by other anomalies. ...We identified LONP1 (lon peptidase 1, mitochondrial) and ALYREF (Aly/REF export factor) as candidate CDH-associated genes on the basis of de …
Congenital diaphragmatic hernia (CDH) is a severe congenital anomaly that is often accompanied by other anomalies. ...W …
Unraveling the Genetics of Congenital Diaphragmatic Hernia: An Ongoing Challenge.
Brosens E, Peters NCJ, van Weelden KS, Bendixen C, Brouwer RWW, Sleutels F, Bruggenwirth HT, van Ijcken WFJ, Veenma DCM, Otter SCMC, Wijnen RMH, Eggink AJ, van Dooren MF, Reutter HM, Rottier RJ, Schnater JM, Tibboel D, de Klein A. Brosens E, et al. Front Pediatr. 2022 Feb 3;9:800915. doi: 10.3389/fped.2021.800915. eCollection 2021. Front Pediatr. 2022. PMID: 35186825 Free PMC article. Review.
Congenital diaphragmatic hernia (CDH) is a congenital structural anomaly in which the diaphragm has not developed properly. ...In patients without a known monogenetic syndrome, an increased genetic burden of de novo coding variants contributes to disease …
Congenital diaphragmatic hernia (CDH) is a congenital structural anomaly in which the diaphragm has not developed prope …
One-Year Outcome for Congenital Diaphragmatic Hernia: Results From the French National Register.
Barrière F, Michel F, Loundou AD, Fouquet V, Kermorvant E, Blanc S, Carricaburu E, Desrumaux A, Pidoux O, Arnaud A, Berte N, Blanc T, Lavrand F, Levard G, Rayet I, Samperiz S, Schneider A, Marcoux MO, Winer N, Chaussy Y, Datin-Dorriere V, Ballouhey Q, Binet A, Muszynski C, Breaud J, Garenne A, Storme L, Boubnova J; Center for Rare Diseases for Congenital Diaphragmatic Hernia. Barrière F, et al. J Pediatr. 2018 Feb;193:204-210. doi: 10.1016/j.jpeds.2017.09.074. Epub 2017 Dec 6. J Pediatr. 2018. PMID: 29212620
OBJECTIVE: To evaluate the status of congenital diaphragmatic hernia (CDH) management in France and to assess predictors of adverse outcomes. ...
OBJECTIVE: To evaluate the status of congenital diaphragmatic hernia (CDH) management in France and to assess predictor …
Proposal for standardized prenatal ultrasound assessment of the fetus with congenital diaphragmatic hernia by the European reference network on rare inherited and congenital anomalies (ERNICA).
Russo FM, Cordier AG, De Catte L, Saada J, Benachi A, Deprest J; Workstream Prenatal Management, ERNICA European reference network. Russo FM, et al. Prenat Diagn. 2018 Aug;38(9):629-637. doi: 10.1002/pd.5297. Epub 2018 Jul 23. Prenat Diagn. 2018. PMID: 29924391 Review.
Congenital diaphragmatic hernia is a rare disease associated with high mortality and morbidity. ...Finally, evaluation of stomach position has recently been introduced as an indirect method to estimate severity of the disease in left-side …
Congenital diaphragmatic hernia is a rare disease associated with high mortality and morbidity. ...Finall …
Balloon removal after fetoscopic endoluminal tracheal occlusion for congenital diaphragmatic hernia.
Jiménez JA, Eixarch E, DeKoninck P, Bennini JR, Devlieger R, Peralta CF, Gratacos E, Deprest J. Jiménez JA, et al. Am J Obstet Gynecol. 2017 Jul;217(1):78.e1-78.e11. doi: 10.1016/j.ajog.2017.02.041. Epub 2017 Mar 3. Am J Obstet Gynecol. 2017. PMID: 28267443
BACKGROUND: Isolated congenital diaphragmatic hernia defect allows viscera to herniate into the chest, competing for space with the developing lungs. ...MATERIALS AND METHODS: This is a retrospective analysis of prospectively collected data on consecutive pat …
BACKGROUND: Isolated congenital diaphragmatic hernia defect allows viscera to herniate into the chest, competing for sp …
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays.
Ganapathi M, Matsuoka LS, March M, Li D, Brokamp E, Benito-Sanz S, White SM, Lachlan K, Ahimaz P, Sewda A, Bastarache L, Thomas-Wilson A, Stoler JM, Bramswig NC, Baptista J, Stals K, Demurger F, Cogne B, Isidor B, Bedeschi MF, Peron A, Amiel J, Zackai E, Schacht JP, Iglesias AD, Morton J, Schmetz A; Undiagnosed Diseases Network; Seidel V, Lucia S, Baskin SM, Thiffault I, Cogan JD, Gordon CT, Chung WK, Bowdin S, Bhoj E. Ganapathi M, et al. Eur J Hum Genet. 2023 Oct;31(10):1117-1124. doi: 10.1038/s41431-023-01434-5. Epub 2023 Jul 27. Eur J Hum Genet. 2023. PMID: 37500725
Nuclear receptor subfamily 2 group F member 2 (NR2F2 or COUP-TF2) encodes a transcription factor which is expressed at high levels during mammalian development. Rare heterozygous Mendelian variants in NR2F2 were initially identified in individuals with congenital heart …
Nuclear receptor subfamily 2 group F member 2 (NR2F2 or COUP-TF2) encodes a transcription factor which is expressed at high levels during ma …
Survival in very preterm infants with congenital diaphragmatic hernia and association with prenatal imaging markers: A retrospective cohort study.
Horn-Oudshoorn EJJ, Russo FM, Deprest JA, Kipfmueller F, Geipel A, Schaible T, Rafat N, Cordier AG, Benachi A, Abbasi N, Chiu PPL, de Boode WP, Sikkel E, Peters NCJ, Hansen BE, Reiss IKM, DeKoninck PLJ. Horn-Oudshoorn EJJ, et al. BJOG. 2023 Oct;130(11):1403-1411. doi: 10.1111/1471-0528.17497. Epub 2023 Apr 17. BJOG. 2023. PMID: 37069727
OBJECTIVES: To describe the outcomes of preterm born infants with congenital diaphragmatic hernia (CDH; 32.0 weeks of gestation) and the associations between prenatal imaging markers and survival. ...CONCLUSIONS: In infants with CDH born at or before 32 weeks …
OBJECTIVES: To describe the outcomes of preterm born infants with congenital diaphragmatic hernia (CDH; 32.0 weeks of g …
116 results