PubMed for id: 350734

Year	Number of Results
1981	1
1990	1
1997	1
2002	1
2003	1
2004	1
2008	1
2009	1
2011	1
2012	1
2013	1
2014	1
2015	1
2016	2
2017	1
2018	3
2019	1
2021	2
2022	2
2024	0

1

Further description of two patients with biallelic variants in NADSYN1 in association with cardiac and vertebral anomalies.

Kortbawi H, Ames E, Pritchard A, Devine P, van Ziffle J, Slavotinek A. Kortbawi H, et al. Am J Med Genet A. 2022 Aug;188(8):2479-2484. doi: 10.1002/ajmg.a.62765. Epub 2022 May 2. Am J Med Genet A. 2022. PMID: 35491967

2

8p23.1 deletion: Look out for left ventricular hypertrabeculation and not only congenital heart diseases. Single-center experience and literature revision.

Cicenia M, Alesi V, Orlando V, Magliozzi M, Di Tommaso S, Iodice FG, Pompei E, Toscano A, Digilio MC, Drago F, Novelli A, Baban A. Cicenia M, et al. Am J Med Genet A. 2022 Mar;188(3):883-895. doi: 10.1002/ajmg.a.62598. Epub 2021 Dec 13. Am J Med Genet A. 2022. PMID: 34897976

3

8q21.11 microdeletion syndrome: Delineation of HEY1 as a candidate gene in neurodevelopmental and cardiac defects.

Ben Ayed I, Bouzid A, Kammoun F, Souissi A, Jallouli O, Mallouli S, Guidara S, Loukil S, Aloulou H, Jbeli F, Aouichaoui S, Abid D, Abdelhedi F, Triki C, Kamoun H, Masmoudi S. Ben Ayed I, et al. Mol Genet Genomic Med. 2021 Nov;9(11):e1811. doi: 10.1002/mgg3.1811. Epub 2021 Sep 22. Mol Genet Genomic Med. 2021. PMID: 34549899 Free PMC article.

4

Novel deletion of 6p21.31p21.1 associated with laryngeal cleft, developmental delay, dysmorphic features and vascular anomaly.

Pillai NR, Marafi D, Monteiro SA, Parnes M, Chandy BM, Patel A, Bacino CA, Breman AM, Burrage LC. Pillai NR, et al. Eur J Med Genet. 2019 Jun;62(6):103531. doi: 10.1016/j.ejmg.2018.08.012. Epub 2018 Aug 22. Eur J Med Genet. 2019. PMID: 30142436

5

Incidental finding of pulmonary arterial sling during patent ductus arteriosus surgery in a patient with Mowat-Wilson syndrome.

Cano Sierra JD, Mestra CF, Ronderos Dumit MA. Cano Sierra JD, et al. Cardiol Young. 2018 Aug;28(8):1074-1076. doi: 10.1017/S1047951118000689. Epub 2018 Jun 29. Cardiol Young. 2018. PMID: 29954473

6

The case for early use of rapid whole-genome sequencing in management of critically ill infants: late diagnosis of Coffin-Siris syndrome in an infant with left congenital diaphragmatic hernia, congenital heart disease, and recurrent infections.

Sweeney NM, Nahas SA, Chowdhury S, Campo MD, Jones MC, Dimmock DP, Kingsmore SF; RCIGM Investigators. Sweeney NM, et al. Cold Spring Harb Mol Case Stud. 2018 Jun 1;4(3):a002469. doi: 10.1101/mcs.a002469. Print 2018 Jun. Cold Spring Harb Mol Case Stud. 2018. PMID: 29549119 Free PMC article.

7

Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity.

Pettersson M, Bergendal B, Norderyd J, Nilsson D, Anderlid BM, Nordgren A, Lindstrand A. Pettersson M, et al. Am J Med Genet A. 2017 May;173(5):1396-1399. doi: 10.1002/ajmg.a.38214. Epub 2017 Mar 20. Am J Med Genet A. 2017. PMID: 28319323

8

Prenatal diagnosis of Smith-Magenis syndrome in two fetuses with increased nuchal translucency, mild lateral ventriculomegaly, and congenital heart defects.

Lei TY, Li R, Fu F, Wan JH, Zhang YL, Jing XY, Liao C. Lei TY, et al. Taiwan J Obstet Gynecol. 2016 Dec;55(6):886-890. doi: 10.1016/j.tjog.2015.07.007. Taiwan J Obstet Gynecol. 2016. PMID: 28040141 Free article.

9

Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome.

Lin AE, Michot C, Cormier-Daire V, L'Ecuyer TJ, Matherne GP, Barnes BH, Humberson JB, Edmondson AC, Zackai E, O'Connor MJ, Kaplan JD, Ebeid MR, Krier J, Krieg E, Ghoshhajra B, Lindsay ME. Lin AE, et al. Am J Med Genet A. 2016 Oct;170(10):2617-31. doi: 10.1002/ajmg.a.37739. Epub 2016 Jun 14. Am J Med Genet A. 2016. PMID: 27302097 Review.

10

3 generation pedigree with paternal transmission of the 22q11.2 deletion syndrome: Intrafamilial phenotypic variability.

Vergaelen E, Swillen A, Van Esch H, Claes S, Van Goethem G, Devriendt K. Vergaelen E, et al. Eur J Med Genet. 2015 Apr;58(4):244-8. doi: 10.1016/j.ejmg.2015.01.008. Epub 2015 Feb 3. Eur J Med Genet. 2015. PMID: 25655469

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