Results 141 to 150 of about 110,198 (324)

The natural history of pregnancies with a diagnosis of Trisomy 18 or Trisomy 13; a retrospective case series [PDF]

, 2013
Orla A. Houlihan, Keelin O’Donoghue
openalex   +1 more source

Septal cell lines derived from the trisomy 16 mouse: generation, characterization, and response to NGF

, 1995
Jeong‐Hoon Kim, David N. Hammond
openalex   +2 more sources

Genetic Diagnoses Among Congenital Anomaly Cases in Europe: Data From the EUROCAT Network

Paediatric and Perinatal Epidemiology, EarlyView.
ABSTRACT Background Surveillance of congenital anomaly prevalence over time can identify new teratogens. Anomalies with a genetic cause are excluded from the monitoring. Objectives We examined temporal changes in the proportion of genetic diagnoses among cases with a congenital anomaly.
Jorieke E. H. Bergman, Annie Perraud, Ester Garne, Ingeborg Barisic, David Tucker, Elisa Ballardini, Lea Bruneau, Clara Cavero‐Carbonell, Ianis Cousin, Miriam Gatt, Katya Kovacheva, Anna Latos‐Bielenska, Mary O'Mahony, Isabelle Monier, Isabelle Perthus, Riccardo Pertile, Anke Rissmann, Florence Rouget, Michelle Santoro, Joanna Sichitiu, Christine Verellen‐Dumoulin, Wladimir Wertelecki, Diana Wellesley, Joan K. Morris   +23 more
wiley   +1 more source

A change of heart: the evolution of care for children with Trisomy 21 and CHD [PDF]

Madeline Petrikas, Seok Reyol Choi, K. P. Cavanaugh, Nieves Gil Gómez, Cheyenne Ahamed, Davi Freitas Tenório, Roderick Yang, Jiyong Moon, Charles D. Fraser, Charles D. Fraser, Constantine Mavroudis   +10 more
openalex   +1 more source

Premature chromosome condensation in a child with trisomy 21. [PDF]

, 1992
Karthik S. Prabhakara, Bibhas Kar, Sabita K. Murthy   +2 more
openalex   +1 more source

New Insights Into Changes in the DNA Methylation Pattern of the SHOX Gene in Patients With Léri‐Weill Dyschondrosteosis

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 606-618, March 2026.
ABSTRACT SHOX gene haploinsufficiency is associated with Léri‐Weill dyschondrosteosis (LWD) or idiopathic short stature (ISS) and could be caused by the structural and point mutations in the coding region and by the deletions in SHOX gene regulatory sequences. The role of the duplications in regulatory sequences is ambivalent.
Valeriia Kopytko, Katerina Hirschfeldova, Pavlina Capkova, Roman Solc   +3 more
wiley   +1 more source

The efficacy of expanded non‐invasive prenatal testing (NIPT) in a high‐risk twin pregnancies cohort

Acta Obstetricia et Gynecologica Scandinavica
Introduction Our objective was to evaluate the efficacy of expanded non‐invasive prenatal testing (NIPT) that includes both trisomies and copy number variants (CNVs) in high‐risk twin pregnancies. Material and Methods A prospective, double‐blinded cohort
Meng Meng, Jianping Chen, Yingjun Yang, Yun Zhang, Gang Zou, Fenhe Zhou, Xing Wei, Yuchun Ge, Jia Zhou, Luming Sun   +9 more
doaj   +1 more source

Quantifying the resolution of spatial and temporal representation in children with 22q11.2 deletion syndrome. [PDF]

, 2019
ObjectivesOur ability to generate mental representation of magnitude from sensory information affects how we perceive and experience the world. Reduced resolution of the mental representations formed from sensory inputs may generate impairment in the ...
Amato, Michele, Cabaral, Margarita H, Cruz, Joshua, Durdle, Courtney, Harvey, Danielle, McCabe, Kathryn L, Popa, Abbie M, Simon, Tony J, Tartaglia, Nicole, Wong, Ling M   +9 more
core   +1 more source

Cleft Palate in a Newborn With Trisomy 21: A Case Report [PDF]

, 2023
Cristine C Cabanas, Sirin Falconi, Hannah Jones, Muhammad Subhani, Olubukunola Adesanya   +4 more
openalex   +1 more source

P465: Aplasia cutis congenita associated with trisomy 21: A unique presentation in a 5-month-old female [PDF]

Elizabeth Otersen, Catherine M. Cahill, Marshall Herbst, Matthew Busch, Katherine Mascia   +4 more
openalex   +1 more source