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2025

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Page 1
Sex differences in cardiovascular disease and dysregulation in Down syndrome.
Bates ML, Vasileva A, Flores LDM, Pryakhina Y, Buckman M, Tomasson MH, DeRuisseau LR. Bates ML, et al. Am J Physiol Heart Circ Physiol. 2023 Apr 1;324(4):H542-H552. doi: 10.1152/ajpheart.00544.2022. Epub 2023 Feb 17. Am J Physiol Heart Circ Physiol. 2023. PMID: 36800509 Free PMC article. Review.
Articles were included if they reported male and female distinct data, participants with Down syndrome, and one of our keywords. The retrospective medical record review was completed using 75 participating health care organizations to identify the incidence of conge …
Articles were included if they reported male and female distinct data, participants with Down syndrome, and one of our keywords. The …
Relapse and cytogenetic evolution in myeloid neoplasms.
Ertz-Archambault N, Kelemen K. Ertz-Archambault N, et al. Panminerva Med. 2017 Dec;59(4):308-319. doi: 10.23736/S0031-0808.17.03380-8. Panminerva Med. 2017. PMID: 29144072 Review.
The major route changes include an extra Ph chromosome (+Ph) trisomy 8 (+8) and the occurrence of an i(17q). The six most common minor route abnormalities include -7, -17, +17, +21 and -Y and one structural change, t(3;21). Recently an increased number of CML cases with ka …
The major route changes include an extra Ph chromosome (+Ph) trisomy 8 (+8) and the occurrence of an i(17q). The six most common mino …
Cardiac anomalies in children with congenital duodenal obstruction: a systematic review with meta-analysis.
Pijpers AGH, Eeftinck Schattenkerk LD, de Vries R, Broers CJM, Straver B, van Heurn ELW, Musters GD, Gorter RR, Derikx JPM. Pijpers AGH, et al. Pediatr Surg Int. 2023 Mar 26;39(1):160. doi: 10.1007/s00383-023-05449-3. Pediatr Surg Int. 2023. PMID: 36967411 Free PMC article. Review.
The most common cardiac anomalies were persistent foramen ovale 35% (95% CI 0.20-0.54), ventricular septal defect 33% (95% CI 0.24-0.43), and atrial septal defect 33% (95% CI 0.26-0.41). The most prevalent type of obstruction was type 3 (complete atresias), with a p …
The most common cardiac anomalies were persistent foramen ovale 35% (95% CI 0.20-0.54), ventricular septal defect 33% (95% CI 0.24-0. …
Prolonged survival in Edwards syndrome with congenital heart disease: a case report and literature review.
López-Ríos V, Grajales-Marín E, Gómez-Zambrano V, Barrios-Arroyave FA. López-Ríos V, et al. Medwave. 2020 Sep 3;20(8):e8015. doi: 10.5867/medwave.2020.08.8015. Medwave. 2020. PMID: 32956340 Review. English, Spanish.
Edwards syndrome or trisomy 18 is a complex entity that involves the musculoskeletal, craniofacial, cardiovascular, and neurological systems. Its genetics are varied, presenting both in a complete and mosaic type. Survival rarely exceeds the first year of lif …
Edwards syndrome or trisomy 18 is a complex entity that involves the musculoskeletal, craniofacial, cardiovascular, and neurol …
Perinatal Counseling Following a Diagnosis of Trisomy 13 or 18: Incorporating the Facts, Parental Values, and Maintaining Choices.
Leuthner SR, Acharya K. Leuthner SR, et al. Adv Neonatal Care. 2020 Jun;20(3):204-215. doi: 10.1097/ANC.0000000000000704. Adv Neonatal Care. 2020. PMID: 31996562 Review.
BACKGROUND: Families with a prenatal diagnosis of trisomy 13 or 18 are told many things, some true and some myths. They present with differing choices on how to proceed that may or may not be completely informed. ...
BACKGROUND: Families with a prenatal diagnosis of trisomy 13 or 18 are told many things, some true and some myths. They present with …
The brain in Down syndrome (TRISOMY 21).
Lubec G, Engidawork E. Lubec G, et al. J Neurol. 2002 Oct;249(10):1347-56. doi: 10.1007/s00415-002-0799-9. J Neurol. 2002. PMID: 12382149 Review.
Down syndrome (DS) is the most common genetic birth defect associated with mental retardation. The mechanism(s) underlying the neuropathology of DS is not completely understood. Different hypotheses have been advanced to explain this mystery, including the gene dosa …
Down syndrome (DS) is the most common genetic birth defect associated with mental retardation. The mechanism(s) underlying the neurop …
Variable outcomes in mosaic trisomy 16: five case reports and literature analysis.
Neiswanger K, Hohler PM, Hively-Thomas LB, McPherson EW, Hogge WA, Surti U. Neiswanger K, et al. Prenat Diagn. 2006 May;26(5):454-61. doi: 10.1002/pd.1437. Prenat Diagn. 2006. PMID: 16557642 Review.
OBJECTIVES: To report five cases of mosaic trisomy 16 with variable outcomes in the context of the literature on mosaic trisomy 16. ...CONCLUSION: While there is no obvious mosaic trisomy 16 syndrome, IUGR and heart defects commonly occur, even if the …
OBJECTIVES: To report five cases of mosaic trisomy 16 with variable outcomes in the context of the literature on mosaic trisomy
[XY type gonadal dysgenesis, trisomy X and variants].
Kikuchi I, Takeuchi H, Kinoshita K. Kikuchi I, et al. Nihon Rinsho. 2004 Feb;62(2):309-12. Nihon Rinsho. 2004. PMID: 14968537 Review. Japanese.
XY gonadal dysgenesis, this is a condition that has XY chromosome but is characterized by the indifferent testis. There are complete and incomplete types. Complete type has bilateral gonads of cordee, does not show physical characteristics of Turner's syndrome
XY gonadal dysgenesis, this is a condition that has XY chromosome but is characterized by the indifferent testis. There are complete
Bone marrow transplantation for Behçet's disease: a case report and systematic review of the literature.
Soysal T, Salihoğlu A, Esatoğlu SN, Gültürk E, Eşkazan AE, Hatemi G, Hatemi I, Öngören Aydın Ş, Erzin YZ, Başlar Z, Tüzüner N, Ferhanoğlu B, Çelik AF. Soysal T, et al. Rheumatology (Oxford). 2014 Jun;53(6):1136-41. doi: 10.1093/rheumatology/ket479. Epub 2014 Feb 6. Rheumatology (Oxford). 2014. PMID: 24505123 Review.
RESULTS: A 30-year-old woman with refractory GI BD involvement with trisomy 8 MDS underwent a successful myeloablative allogeneic HSCT resulting in complete resolution of both BD and MDS. ...All of these patients achieved complete remission of GI findings aft …
RESULTS: A 30-year-old woman with refractory GI BD involvement with trisomy 8 MDS underwent a successful myeloablative allogeneic HSC …
[Risk factors associated with neonatal tumors. Experience of a pediatric environmental health specialty unit in Valencia (Spain)].
Berbel Tornero O, Ferrís i Tortajada J, Donat Colomer J, Ortega García JA, Verdeguer Miralles A. Berbel Tornero O, et al. An Pediatr (Barc). 2006 May;64(5):439-48. doi: 10.1157/13087871. An Pediatr (Barc). 2006. PMID: 16756885 Free article. Review. Spanish.
Constitutional-genetic factors were identified in 13.6 %: dominant hereditary syndromes in 5 (familial retinoblastoma in 1 and tuberous sclerosis in 4), and non-hereditary chromosomal syndromes in 3 (trisomy 21). ...Four were exposed to pesticides, 3 to solve …
Constitutional-genetic factors were identified in 13.6 %: dominant hereditary syndromes in 5 (familial retinoblastoma in 1 and tubero …