Results 261 to 270 of about 110,198 (324)

A Longitudinal Case Study of Renal Cyst Progression and Regression in Trisomy 13. [PDF]

Clin Case Rep
Yamabe F, Shindo T, Haneda K, Namai Y, Harita Y.   +4 more
europepmc   +1 more source

Emapalumab as a Life-Saving Therapy for Macrophage Activation Syndrome in Refractory Systemic Juvenile Idiopathic Arthritis with Trisomy 21. [PDF]

Turk Arch Pediatr
Akay N, Aslan E, Gul U, Kilic Konte E, Yildiz M, Sahin S.   +5 more
europepmc   +1 more source

A New Hypothesis on the Etiology of Down Syndrome: The Role of Anti-Zona Pellucida Antibodies as an Age-Independent Factor. [PDF]

Int J Mol Sci
Noia G, Pasciuto T, Ria F, Pontecorvi A, Sacco M, Teveroni E, Genuardi M, Mauro F, Spina P, Spina E, Castagna G, Visconti D, Lanzone A, De Santis M.   +13 more
europepmc   +1 more source

Long-Term Survival Among Children With Trisomy 13 and Trisomy 18 by Cytogenetic Status.

JAMA Netw Open
Ludorf KL, Benjamin RH, Shumate CJ, Canfield MA, Nguyen J, Agopian AJ.   +5 more
europepmc   +1 more source

Deciphering Haplotype-level Chromosome Conformation Alteration in Down Syndrome by Haplotype-resolved Multi-omics Analysis. [PDF]

Genomics Proteomics Bioinformatics
Wu C, Zhou T, Ke W, Xiong W, Zhang Z, Zhang S, Wang J, Deng L, Yan K, Wang M, He S, Gong Q, Ma C, Chen X, Li Y, Long H, Guo C, Cao G, Zhang Z.   +18 more
europepmc   +1 more source

Parental and cell-division origin analysis to reduce false-positives in mosaic embryos for preimplantation genetic testing. [PDF]

Hum Reprod Open
Zhang Q, Liu G, Xiang Y, Zou Y, Chen Y, Xia Y, Xiong S, Fu T, Wang J, Jiang Y, Xiong J, Zhang X, Lu S, Liu D, Huang G, Lin T.   +15 more
europepmc   +1 more source

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Trisomy 6qter

Clinical Genetics, 1981
A previously reported patient with trisomy for the distal part of 6q was shown by R‐banding to be trisomic for 6q26qter, due to a t(6;22)(q26;p12) mat. Altogether nine patients with 6qter trisomy have been reported. The main features of the 6qter trisomy syndrome are: severe mental and growth retardation; acrocephaly and brachycephaly; a carp‐shaped ...
C, Turleau, J, de Grouchy
openaire   +2 more sources

Trisomy 2q

Acta geneticae medicae et gemellologiae, 1975
Two unrelated patients with trisomy 2q32 → q37, resulting from maternal balanced translocations t(2; 13) (q32 q33) and t(2; 15) (q32 q26) are reported. Comparison of the clinical findings suggests that trisomy 2q is associated with a rather characteristic constellation of symptoms and malformations.
B, Dallapiccola, A, Forabosco, A, Calabro   +2 more
openaire   +2 more sources