Results for &quot;&quot;Trisomy&quot;&quot;[mesh_terms]

Fetal Therapy for Down Syndrome: Report of Three Cases and a Review of the Literature.

Patrick James Baggot, Rocel Medina Baggot

Issues in law & medicine 2018;32(1):31-41

The trisomy 18 syndrome.

Anna Cereda, John C Carey

Orphanet journal of rare diseases 2013;7():81

Down syndrome--genetic and nutritional aspects of accompanying disorders.

Dominika Mazurek, Joanna Wyka

Roczniki Panstwowego Zakladu Higieny 2016;66(3):189-94

Periodic fever and erythema nodosum associated with MDS with trisomy 8: report of two cases and review of the literature.

Takanori Fujimura, Naoichiro Yukawa, Ran Nakashima, Yoshitaka Imura, Daisuke Kawabata, Takaki Nojima, Koichiro Ohmura, Takao Fujii, Takashi Usui, Tsuneyo Mimori

Modern rheumatology 2010;20(4):413-9

Chronic pro-oxidative state and mitochondrial dysfunctions are more pronounced in fibroblasts from Down syndrome foeti with congenital heart defects.

Claudia Piccoli, Antonella Izzo, Rosella Scrima, Ferdinando Bonfiglio, Rosanna Manco, Rosa Negri, Giovanni Quarato, Olga Cela, Maria Ripoli, Marina Prisco, Flaviana Gentile, Gaetano Calì, Paolo Pinton, Anna Conti, Lucio Nitsch, Nazzareno Capitanio

Human molecular genetics 2013;22(6):1218-32

Interdisciplinary care of children with trisomy 13 and 18.

Meaghann S Weaver, Venus Anderson, Jill Beck, Jeffrey W Delaney, Cynthia Ellis, Scott Fletcher, James Hammel, Suzanne Haney, Andrew Macfadyen, Bridget Norton, Mary Rickard, Jeffrey A Robinson, Ryan Sewell, Lois Starr, Nicole D Birge

American journal of medical genetics. Part A 2021;185(3):966-977

Four children with postnatally diagnosed mosaic trisomy 12: Clinical features, literature review, and current diagnostic capabilities of genetic testing.

Jie Hu, Zhishuo Ou, Urvashi Surti, Sally Kochmar, Lori Hoffner, Suneeta Madan-Khetarpal, Georgianne L Arnold, Leslie Walsh, Roxanne Acquaro, Jessica Sebastian, Svetlana A Yatsenko

American journal of medical genetics. Part A 2021;182(4):813-822

Extra X, extra questions: Trisomy X syndrome and IgA deficiency - a case report.

Giulia Brindisi, Alessandra Gori, Anna Maria Zicari, Caterina Anania, Vittorio Maglione, Fabrizio Leone, Bianca Laura Cinicola

Frontiers in immunology 2024;15():1518076

The role of the mitochondrial trans-sulfuration in cerebro-cardio renal dysfunction during trisomy down syndrome.

Sathnur Pushpakumar, Mahavir Singh, Utpal Sen, N Tyagi, Suresh C Tyagi

Molecular and cellular biochemistry 2024;479(4):825-829

Spontaneous Sexual Development and Heavy Menstrual Bleeding in 45,X Monosomy and 45,X/47,XXX Mosaic Turner Syndrome and a Review of the Literature.

Myeong Jin Kim, Hwal Rim Jeong

Journal of pediatric and adolescent gynecology 2020;33(5):602-606

Down's Syndrome and Triple Negative Breast Cancer: A Rare Occurrence of Distinctive Clinical Relationship.

Nandini Dey, Amy Krie, Jessica Klein, Kirstin Williams, Amanda McMillan, Rachel Elsey, Yuliang Sun, Casey Williams, Pradip De, Brian Leyland-Jones

International journal of molecular sciences 2018;18(6):1218

Maternal uniparental disomy 14 dissection of the phenotype with respect to rare autosomal recessively inherited traits, trisomy mosaicism, and genomic imprinting.

Dieter Kotzot

Annales de genetique 2004;47(3):251-60

NRIP1/RIP140 siRNA-mediated attenuation counteracts mitochondrial dysfunction in Down syndrome.

Antonella Izzo, Rosanna Manco, Ferdinando Bonfiglio, Gaetano Calì, Tiziana De Cristofaro, Simone Patergnani, Rita Cicatiello, Rosella Scrima, Mariastella Zannini, Paolo Pinton, Anna Conti, Lucio Nitsch

Human molecular genetics 2016;23(16):4406-19

Childhood myelodysplastic syndrome.

Tathagata Chatterjee, V P Choudhry

Indian journal of pediatrics 2014;80(9):764-71