PMC Articles for MedGen (Select 323030) - PMC

Select item 106067451.

Prenatal cfDNA Screening for Emanuel Syndrome and Other Unbalanced Products of Conception in Carriers of the Recurrent Balanced Translocation t(11;22): One Laboratory’s Retrospective Experience

Erica Soster, Brittany Dyr, Samantha Caldwell, Amanda Sussman, Hany Magharyous

Genes (Basel) 2023 Oct; 14(10): 1924. Published online 2023 Oct 10. doi: 10.3390/genes14101924

PMCID:: PMC10606745

Abstract Article PDF–3.2M

Select item 70600072.

Neuroimaging findings in Emanuel Syndrome

Charlies L Xie, Agustin M Cardenas

J Radiol Case Rep. 2019 Oct; 13(10): 21–25. Published online 2019 Oct 31. doi: 10.3941/jrcr.v13i10.3625

PMCID:: PMC7060007

Abstract Article PDF–393K

Select item 70575023.

Non-invasive prenatal screening for Emanuel syndrome

Yuqin Luo, Jie Lin, Yixi Sun, Yeqing Qian, Liya Wang, Min Chen, Minyue Dong, Fan Jin

Mol Cytogenet. 2020; 13: 9. Published online 2020 Mar 4. doi: 10.1186/s13039-020-0476-7

PMCID:: PMC7057502

Abstract Article PDF–3.4M

Select item 51571474.

Anesthetic Management of a Patient With Emanuel Syndrome

Masanori Tsukamoto, Takashi Hitosugi, Kanako Esaki, Takeshi Yokoyama

Anesth Prog. 2016 Winter; 63(4): 201–203. doi: 10.2344/16-00028.1

PMCID:: PMC5157147

Abstract Article PDF–78K

Select item 50262725.

A case with Emanuel syndrome: extra derivative 22 chromosome inherited from the mother

E İkbal Atli, H Gürkan, Ü Vatansever, S Ulusal, H Tozkir

Balkan J Med Genet. 2015 Dec 1; 18(2): 77–82. Published online 2016 Jul 9. doi: 10.1515/bjmg-2015-0089

PMCID:: PMC5026272

Abstract Article PDF–1012K

Select item 36520446.

Derivative 11;22 (Emanuel) Syndrome: A Case Report and A Review

Madan Gopal Choudhary, Prashant Babaji, Nitin Sharma, Dilip Dhamankar, Gururaj Naregal, Vijay Sunil Reddy

Case Rep Pediatr. 2013; 2013: 237935. Published online 2013 Apr 18. doi: 10.1155/2013/237935

PMCID:: PMC3652044

Abstract Article PDF–943K

Select item 27333347.

Phenotypic Delineation of Emanuel Syndrome (Supernumerary Derivative 22 syndrome): Clinical features of 63 individuals

Melissa T Carter, Stephanie A St. Pierre, Elaine H Zackai, Beverly S Emanuel, Kym M Boycott

Am J Med Genet A. Author manuscript; available in PMC 2010 Aug 1.

Published in final edited form as: Am J Med Genet A. 2009 Aug; 149A(8): 1712–1721. doi: 10.1002/ajmg.a.32957

PMCID:: PMC2733334

Abstract Article PDF–695K

Select item 38522848.

Gene expression analysis of induced pluripotent stem cells from aneuploid chromosomal syndromes

Ruosi Zhang, Lili Hao, Lingping Wang, Meili Chen, Wen Li, Rujiao Li, Jun Yu, Jingfa Xiao, Jiayan Wu

BMC Genomics. 2013; 14(Suppl 5): S8. Published online 2013 Oct 16. doi: 10.1186/1471-2164-14-S5-S8

PMCID:: PMC3852284

Abstract Article PDF–1.6M

Select item 28109659.

Molecular Mechanisms and Diagnosis of Chromosome 22Q11.2 Rearrangements

Beverly S. Emanuel

Dev Disabil Res Rev. Author manuscript; available in PMC 2010 Jan 25.

Published in final edited form as: Dev Disabil Res Rev. 2008; 14(1): 11–18. doi: 10.1002/ddrr.3

PMCID:: PMC2810965

Abstract Article PDF–844K

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