Results 151 to 160 of about 140,678 (408)

Sturge-Weber syndrome with normal karyotype. [PDF]

, 1967
J. A. Abrisqueta
openalex   +1 more source

An automated system for chromosome analysis. Volume 1: Goals, system design, and performance [PDF]

The design, construction, and testing of a complete system to produce karyotypes and chromosome measurement data from human blood samples, and a basis for statistical analysis of quantitative chromosome measurement data is described.
Castleman, K. R., Melnyk, J. H.
core   +1 more source

Accurate detection of uniparental disomy and microdeletions by SNP array analysis in myelodysplastic syndromes with normal cytogenetics. [PDF]

, 2009
Progress in the management of patients with myelodysplastic syndromes (MDS) has been hampered by the inability to detect cytogenetic abnormalities in 40-60% of cases.
Bueso-Ramos, CE, Estey, EH, Garcia-Manero, G, Gilliland, DG, Heinrichs, S, Issa, J-P, Kantarjian, HM, Kornblau, SM, Kulkarni, RV, Levine, RL, Li, C, Loh, ML, Look, AT, Neuberg, D   +13 more
core   +1 more source

Whole Genome Sequencing in Prenatal Diagnostics: The Danish Approach to Guideline Formation and Implementation Within Public Healthcare

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To describe the implementation of whole genome sequencing (WGS) in prenatal diagnostics and outline the national guideline system facilitating this. Methods Clinical guidelines for WGS in prenatal diagnostics were developed and implemented by the Danish Fetal Medicine Society.
Ida Vogel, Lotte Andreasen, Marie Balslev‐Harder, Naja Becher, Anja Ernst, Kasper Gadsbøll, Tina Duelund Hjortshøj, Marie Skov Hvidbjerg, Martin Larsen, Stina Lou, Ida Charlotte Bay Lund, Lars Henning Pedersen, Laura Kirstine Sønderberg Roos, Lene Sperling, Lone Sunde, Pernille Mathiesen Tørring, Cathrine Vedel, Olav Bjørn Petersen   +17 more
wiley   +1 more source

Karyotypes and Nuclear Size in the Spermatogenesis of Grasshoppers Belonging to the Subfamilies Gomphomastacinae, Chininae and Biroellinae (Orthoptera, Eumastacidae) [PDF]

, 1968
M. J. D. White
openalex   +1 more source

Current Controversies in Prenatal Diagnosis—Conference Debate 2024: All Fetuses Undergoing Fetal Therapy Should Have Exome Sequencing

Prenatal Diagnosis, EarlyView.
ABSTRACT This manuscript summarises the debate held at the 2024 annual meeting of The International Society for Prenatal Diagnosis (ISPD). Experts discussed whether all fetuses undergoing fetal therapy should undergo exome sequencing. Arguments in favor included that, with increasing experience and better clinical availability, exome sequencing can ...
Teresa N. Sparks, Rogelio Cruz Martinez, Tim Van Mieghem   +2 more
wiley   +1 more source

45,X[2]/46,X,der(Y).ish Psu idic(Y)(q11.2)[38] mosaic karyotype in mixed gonadal dysgenesis: a case report and literature review

Frontiers in Pediatrics
Mixed gonadal dysgenesis is caused by a variety of chromosome abnormalities, most commonly Y chromosome mosaicism. An 8-year-old boy presented with short stature for possible treatment with recombinant growth hormone.
Qiang Zhang, Xiaoxiao Chen, Yanyan Cao, Yanyan Cao, Yun Zhou, Yingye Liu, Lijun Liu, Lei Liu, Xiaowei Cui   +8 more
doaj   +1 more source

A Karyotype Study ofVaranus MonitorLinn [PDF]

, 1968
Kamla Dutt
openalex   +1 more source

Characteristic Analysis of Ultrasound Diagnosis of Limb Body Wall Complex in Early Pregnancy

Prenatal Diagnosis, EarlyView.
ABSTRACT This study aims to explore the diagnostic value of prenatal ultrasound in limb body wall complex (LBWC) during pregnancy and to improve the understanding of LBWC for early ultrasound diagnosis. The ultrasound data and follow‐up results of 107 cases of LBWC (predominantly diagnosed in the first trimester) from the Third Affiliated Hospital of ...
Lingling Zhang, Rui Wang, Yueshu Zhao, Juan Wu, Hezhou Li, Mengna Li   +5 more
wiley   +1 more source

Seeing Clowns with a Ring 20 Chromosome

Archives of Epilepsy
Ring chromosome 20 syndrome is a rare genetic disorder characterized by non-convulsive status epilepticus (NCSE) attacks, leading to prolonged confusional states of varying intensity.
Haşim Gezegen, İrem İlgezdi Kaya, Tuğba Kalaycı, Nermin Görkem Şirin, Birsen Karaman, Nerses Bebek, Betül Baykan   +6 more
doaj   +1 more source