Results 191 to 200 of about 36,631 (311)

Towards a cumultative biological dosimeter based on chromosome painting and digital image analysis [PDF]

, 1990
Cremer, Christoph, Cremer, Thomas, Hausmann, Michael, Lührs, H., Popp, Susanne, Remm, B., van Kaick, G.   +6 more
core   +1 more source

Clinical Utility of Nuchal Translucency Measurement in First‐Trimester Ultrasound Screening in a Setting With First‐Tier NIPT for Aneuploidy Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the additional clinical value of nuchal translucency (NT) measurement at the first‐trimester anomaly scan (FTAS) in a setting with first‐tier non‐invasive prenatal testing (NIPT). Method This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT
Eline E. R. Lust, Kim Bronsgeest, Lidewij Henneman, Neeltje M. T. H. Crombag, Caterina M. Bilardo, Robert‐Jan H. Galjaard, Esther Sikkel, Audrey B. C. Coumans, Ayten Elvan‐Taşpınar, Sander Galjaard, Attie T. J. I. Go, Gwendolyn T. R. Manten, Eva Pajkrt, Elisabeth van Leeuwen, Monique C. Haak, Mireille N. Bekker   +15 more
wiley   +1 more source

Identification of the <i>HMGA2</i>::<i>CIBAR1-DT</i> fusion transcript in two lipomas with chromosomal rearrangements involving chromosomes 8 and 12. [PDF]

Front Oncol
Brunetti M, Andersen K, Lobmaier I, Micci F.   +3 more
europepmc   +1 more source

Evaluating the Utility of RNAseq in Prenatal Diagnostics: Expression Profiles of Cultured Chorionic Villus and Amniotic Fluid Samples

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective While RNAseq has enhanced variant interpretation in postnatal cases, its potential in the prenatal setting remains underexplored. This study investigates the utility of RNAseq in prenatal diagnostics by analyzing the expression profiles of cultured chorionic villus samples (cCVS) and amniotic fluid (cAF) samples. Methods We performed
Maria C. Vladoiu, Sen Zhao, Roni Zemet, Christian M. Parobek, Jefferson Cruz Sinson, Stacy Tankersley, Ignatia B. Van den Veyver, Pengfei Liu   +7 more
wiley   +1 more source

Overview and future studies of potential hereditary effects of parental exposure to atomic bomb radiation on their offspring. [PDF]

Carcinogenesis
Nakamura N, Yamada M, Sakata R, Ohishi W, Tatsukawa Y, Uchimura A.   +5 more
europepmc   +1 more source

Analysis of genes and chromosomes by non-isotopic in situ hybridization [PDF]

, 1991
Boyle, A. L., Cremer, Thomas, Lichter, Peter, Ward, D. C.   +3 more
core   +1 more source

Sex chromosomal aberration and their modes of presentation.

Indian pediatrics, 1983
M A, Phadke, A S, Joshi, A S, Limaye, L M, Hiremath, S L, Kate, V A, Khedkar, A G, Verma   +6 more
openaire   +1 more source

Neuroimaging Findings and Risk Factors for Brain Injury in Foetuses Treated for Anaemia

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Characterize neuroimaging findings in foetuses with anaemia and identify associated risk factors. Methods Retrospective cohort study of pregnancies with foetal anaemia (defined as haemoglobin > 2 standard deviations below the gestational age mean) confirmed by foetal blood sampling (FBS) and treated with intrauterine transfusion (IUT)
Laurence Sophie Carmant, Carlos Robles, Seungwoo Lee, Prakesh S. Shah, Greg Ryan, Elka Miller, Shiri Shinar   +6 more
wiley   +1 more source

Ethnic Disparities in Glioblastoma Markers: Impact of Chromosome 7 Gain and 10 Loss Alterations on Clinical Survival Outcomes. [PDF]

Oncol Res
Chiu FY, Yen Y.
europepmc   +1 more source

A Comprehensive Review of the Genetic Etiology and Management of Orofacial Clefts

Pediatric Discovery, EarlyView.
ABSTRACT Cleft lip (CL) and cleft palate (CP), collectively referred to as orofacial clefts (OFCs), are among the most common birth defects and can have significant effects on speech, nutrition, and physical and psychosocial development. Manifestation, classification, and treatment plans of OFCs are diverse and not standardized.
Emily Kim, Rebeka Dejenie, Caroline Kim, Russell Reid   +3 more
wiley   +1 more source