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Items: 1 to 20 of 2214

1.
Clinical Practice Guidelines for Prenatal Aneuploidy Screening and Diagnostic Testing from Korean Society of Maternal-Fetal Medicine: (1) Prenatal Aneuploidy Screening
Seung-Ah Choe, Hyun-Joo Seol, Ji Young Kwon, Chan-Wook Park, Minhyoung Kim, Ji Yeon Lee, Min-A Kim, Han-Sung Hwang, Sunghun Na, Jae-Yoon Shim, Kunwoo Kim, Hyun Mee Ryu
J Korean Med Sci. 2021 Jan 25; 36(4): e27. Published online 2021 Jan 8. doi: 10.3346/jkms.2021.36.e27
PMCID:
PMC7834900
ArticlePubReaderPDF–2.4MCite
2.
First trimester diagnosis and screening for fetal aneuploidy
Deborah A. Driscoll, Susan J. Gross
Version 1. Genet Med. 2008 Jan; 10(1): 73–75. doi: 10.1097/GIM.0b013e31815efde8
PMCID:
PMC3110997
ArticlePubReaderPDF–117KCite
3.
Challenging diagnoses of tetraploidy/diploidy and trisomy 12: utility of first-tier prenatal testing methods
Irina Ioana Iordanescu, Anca Teodora Neacsu, Andreea Catana, Zina Barabas-CuzmicI, Viorel Suciu, Cristina Dragomir, Diana Elena Voicu, Emilia Severin, Mariela Sanda Militaru
Front Genet. 2023; 14: 1258752. Published online 2023 Nov 15. doi: 10.3389/fgene.2023.1258752
PMCID:
PMC10684745
ArticlePubReaderPDF–2.0MCite
4.
Predisposition to atherosclerosis in children and adults with trisomy 21: biochemical and metabolomic studies
Marta Hetman, Karolina Mielko, Sylwia Placzkowska, Aleksandra Bodetko, Piotr Młynarz, Ewa Barg
Pediatr Endocrinol Diabetes Metab. 2023 Sep; 29(3): 143–155. Published online 2023 Oct 23. doi: 10.5114/pedm.2023.131162
PMCID:
PMC10679913
ArticlePubReaderPDF–774KCite
5.
New Insights into the Education of Children with Congenital Heart Disease with and without Trisomy 21
Katharina R. L. Schmitt, Laura K. Sievers, Alina Hütter, Hashim Abdul-Khaliq, Martin Poryo, Felix Berger, Ulrike M. M. Bauer, Paul C. Helm, Constanze Pfitzer
Medicina (Kaunas) 2023 Nov; 59(11): 2001. Published online 2023 Nov 14. doi: 10.3390/medicina59112001
PMCID:
PMC10673200
ArticlePubReaderPDF–1.6MCite
6.
Double Trisomy 16 and 22 Clinically Mimic Partial Hydatidiform Mole in a Case of Subsequent Pregnancy Loss
Lajos GERGELY, Miroslav KORBEĽ, Adam ADAMEC, Vanda REPISKÁ, Pavel BABÁL, Katarína MELIŠOVÁ, Petra PRIŠČÁKOVÁ
Physiol Res. 2023 Oct; 72(Suppl 3): S309–S313. Published online 2023 Oct 31. doi: 10.33549/physiolres.935174
PMCID:
PMC10669944
ArticlePubReaderPDF–930KCite
7.
The first case report of distal 16p12.1p11.2 trisomy and proximal 16p11.2 tetrasomy inherited from both parents
Leona Morožin Pohovski, Ivona Sansović, Katarina Vulin, Ljubica Odak
Croat Med J. 2023 Oct; 64(5): 339–343. doi: 10.3325/cmj.2023.64.339
PMCID:
PMC10668035
ArticlePubReaderPDF–586KCite
8.
Exome and genome sequencing to unravel the precise breakpoints of partial trisomy 6q and partial Monosomy 2q
Shuang Zhang, Qianwei Cui, Shangying Yang, Fangxia Zhang, Chunxia Li, Xiaoguang Wang, Bo Lei, Xunlun Sheng
BMC Pediatr. 2023; 23: 586. Published online 2023 Nov 22. doi: 10.1186/s12887-023-04368-5
PMCID:
PMC10664609
ArticlePubReaderPDF–3.2MCite
9.
The Role of Oxidative Stress in Trisomy 21 Phenotype
Angelika Buczyńska, Iwona Sidorkiewicz, Adam Jacek Krętowski, Monika Zbucka-Krętowska
Cell Mol Neurobiol. 2023; 43(8): 3943–3963. Published online 2023 Oct 11. doi: 10.1007/s10571-023-01417-6
PMCID:
PMC10661812
ArticlePubReaderPDF–1.0MCite
10.
Economic cost of patients with trisomy 13, 18, and 21 in a tertiary hospital in Thailand
Preechaya Wongkrajang, Jiraphun Jittikoon, Wanvisa Udomsinprasert, Pattarawalai Talungchit, Usa Chaikledkaew
PLoS One. 2023; 18(11): e0291918. Published online 2023 Nov 16. doi: 10.1371/journal.pone.0291918
PMCID:
PMC10653468
ArticlePubReaderPDF–559KCite
11.
Co-Occurrence of Congenital Aniridia Due to Nonsense PAX6 Variant p.(Cys94*) and Chromosome 21 Trisomy in the Same Patient
Tatyana A. Vasilyeva, Natella V. Sukhanova, Andrey V. Marakhonov, Natalia Yu. Kuzina, Nadezhda V. Shilova, Vitaly V. Kadyshev, Sergey I. Kutsev, Rena A. Zinchenko
Int J Mol Sci. 2023 Nov; 24(21): 15527. Published online 2023 Oct 24. doi: 10.3390/ijms242115527
PMCID:
PMC10650867
ArticlePubReaderPDF–928KCite
12.
Occurrence of mosaic trisomy 22 and pericentric inversion of chromosome 9 in a patient with a good prognosis
Aline Nardelli, Larissa Valéria Laskoski, Andressa Fernanda Luiz, Maruhen Amir Datsch Silveira, Luciana Paula Grégio d’Arce
BMC Med Genomics. 2023; 16: 286. Published online 2023 Nov 13. doi: 10.1186/s12920-023-01709-2
PMCID:
PMC10644605
ArticlePubReaderPDF–845KCite
13.
A new contingent screening strategy increased detection rate of trisomy 21 in the first trimester
Wei Luo, Bin He, Daiwen Han, Lixing Yuan, Jun Tang, Ling Pang, Fene Zou, Kai Zhao, Shanling Liu, Ting Hu
BMC Pregnancy Childbirth. 2023; 23: 791. Published online 2023 Nov 14. doi: 10.1186/s12884-023-06115-1
PMCID:
PMC10644464
ArticlePubReaderPDF–1.0MCite
14.
Double Aneuploidy of Down Syndrome (Trisomy 21) and Jacobs Syndrome (Trisomy XYY) with Complete Tracheal Rings Deformity: Case Report and Literature Review
Omoloro Adeleke, Hussein Elmufti, Jie Zhang, Bhuvaneshwari Jagadesan, Mimily Harsono
AJP Rep. 2023 Jul; 13(4): e53–e60. Published online 2023 Nov 6. doi: 10.1055/s-0043-1774728
PMCID:
PMC10627712
ArticlePubReaderPDF–1.2MCite
15.
Refractory Intestinal Behçet-Like Disease Associated with Trisomy 8 Myelodysplastic Syndrome Resolved by Parenteral Nutrition
Ryo Takahashi, Yasuo Matsubara, Satoshi Takahashi, Kazuaki Yokoyama, Lim Lay Ahyoung, Michiko Koga, Hiroyuki Sakamoto, Narikazu Boku, Dai Shida, Hiroshi Yotsuyanagi
Case Rep Gastroenterol. 2023 Jan-Dec; 17(1): 287–293. Published online 2023 Oct 11. doi: 10.1159/000533578
PMCID:
PMC10624938
ArticlePubReaderPDF–594KCite
16.
Blood tests and use of nutritional supplements in a cohort of Brazilian children with trisomy 21
Andrea M.M. Miyasaki, Julia M. Radigonda, Rodrigo M. Klein, Estefânia G. Moreira
J Pediatr (Rio J) 2023 Nov-Dec; 99(6): 610–616. Published online 2023 Jun 20. doi: 10.1016/j.jped.2023.05.009
PMCID:
PMC10594004
ArticlePubReaderPDF–512KCite
17.
Aplasia Cutis Congenita of the Scalp with Bone Defect and Exposed Sagittal Sinus in Trisomy 13 Newborn – a Case Report
Fisal Rashid AlMatrifi, Ahmad Ayed Al-Shammari, Raed Mohamed Al Nefily, Rawan Abdulrahman AlAnazi, Abdulrahman Hamed Abdulwahab, Ahmed Sabry Ammar
Med Arch. 2023; 77(4): 319–322. doi: 10.5455/medarh.2023.77.319-322
PMCID:
PMC10591249
ArticlePubReaderPDF–763KCite
18.
Anesthetic Management of Inguinal Hernia Surgery Using a Second-Generation Supraglottic Airway in a Patient With Trisomy 18: A Case Report
Shintaro Akimaru, Toshiyuki Nakanishi, Tatsuya Hasegawa, Kazuya Sobue
Cureus. 2023 Sep; 15(9): e45337. Published online 2023 Sep 16. doi: 10.7759/cureus.45337
PMCID:
PMC10577606
ArticlePubReaderPDF–802KCite
19.
Generation of 2 isogenic clones from a patient with Trisomy 21 and a GATA1 mutation
Kaoru Takasaki, Sara S. Kumar, Alyssa Gagne, Deborah L. French, Stella T. Chou
Stem Cell Res. Author manuscript; available in PMC 2023 Oct 15.
Published in final edited form as: Stem Cell Res. 2023 Jun; 69: 103098. Published online 2023 Apr 15. doi: 10.1016/j.scr.2023.103098
PMCID:
PMC10576909
ArticlePubReaderPDF–637KCite
20.
Challenging management of a baby with congenital multiple intestinal atresia, trisomy 18 and extremely low birth weight: a case report
Mitsumasa Okamoto, Sachiyo Fukushima, Satoshi Okada, Yudai Tsuruno, Hiroaki Fukuzawa, Tomoaki Ioroi, Masaaki Kugo
Surg Case Rep. 2023 Dec; 9: 177. Published online 2023 Oct 13. doi: 10.1186/s40792-023-01761-1
PMCID:
PMC10575833
ArticlePubReaderPDF–1.1MCite

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