Results 141 to 150 of about 95,739 (341)

Dermatoglyphic findings in 54 triple-X females and a review of some general principles applying to the soles in sex chromosome aneuploidy. [PDF]

, 1975
P Saldaña-Garcia
openalex   +1 more source

A novel retinoblastoma therapy from genomic and epigenetic analyses. [PDF]

, 2012
Retinoblastoma is an aggressive childhood cancer of the developing retina that is initiated by the biallelic loss of RB1. Tumours progress very quickly following RB1 inactivation but the underlying mechanism is not known.
Bahrami, Armita, Benavente, Claudia A, Brennan, Rachel, Chen, Xiang, Ding, Li, Dooling, David J, Downing, James R, Dyer, Michael A, Dyson, Nicholas J, Easton, John, Ellison, David, Flores-Otero, Jacqueline, Fulton, Lucinda L, Fulton, Robert S, Gupta, Pankaj, Hong, Xin, Lu, Charles, Ma, Jing, Manning, Amity L, Mardis, Elaine R, McEvoy, Justina, Mukatira, Suraj, Mullighan, Charles, Naeve, Clayton, Neale, Geoff, Ochoa, Kerri, Pounds, Stanley, Rusch, Michael, Shurtleff, Sheila, Ulyanov, Anatoly, Wang, Jianmin, Wilson, Matthew, Wilson, Richard K, Wu, Gang, Zhang, Jinghui, Zhao, David   +35 more
core  

Global Delivery of Foetal Sequencing: Do We Need Some Standardisation?

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective The development of sequencing technologies has resulted in rapid expansion in the testing available for foetuses with structural anomalies to diagnose monogenic disorders. To understand the variability in how foetal sequencing services are delivered, we developed a survey that focussed on the scope of testing, any parallel testing ...
Natalie J. Chandler, Zandra C. Deans
wiley   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

CHROMOSOME ANEUPLOIDY IN CHILDREN WITH NON-HEMATOPOIETIC UNTREATED TUMOURS [PDF]

, 1975
Massimo Lucarini, Pasi M. no, Rosanda C. Vadala   +2 more
openalex   +1 more source

Prenatal aneuploidy screening in a low-risk Hispanic population: price elasticity and cost-effectivenessAJOG Global Reports at a Glance

AJOG Global Reports
BACKGROUND: In October 2015, the Massachusetts Medicaid program temporarily stopped reimbursement for procedures in which the International Classification of Diseases, Tenth Edition, code for serum aneuploidy screening used by certain communities was ...
Caitlin M. Clifford, MD, Neil Askew, MS, Diane Smith, MD, Jesus Iniguez, MD, Andrew Smith, MD, Michael D. House, MD, Ashley A. Leech, PhD, MS   +6 more
doaj   +1 more source

COMPLEX ANEUPLOIDY IN AN APPARENTLY NORMAL FEMALE [PDF]

, 1977
Paul J. Benke, Joan R. Davies, Uwe Stave
openalex   +1 more source

The Influence of the Introduction of Fetal Anomaly Scans on Pregnancy Terminations in Cases of Upper Limb Anomalies: A Retrospective Cohort Study From 2000 to 2023

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To examine the association between the introduction of the fetal anomaly scans in the Netherlands and termination of pregnancy (TOP) in cases of prenatally detected upper limb anomalies. Methods We conducted a retrospective study among prenatally detected upper limb anomalies between 2000 and 2023.
Arda Arduç, Eline Huiberts, Margriet H. M. van Doesburg, Ingeborg H. Linskens, Elisabeth van Leeuwen, Merel C. Van Maarle, Eva Pajkrt   +6 more
wiley   +1 more source

Human Papillomavirus-Induced Chromosomal Instability and Aneuploidy in Squamous Cell Cancers

Viruses
Chromosomal instability (CIN) and aneuploidy are hallmarks of cancer. CIN is defined as a continuous rate of chromosome missegregation events over the course of multiple cell divisions.
Samyukta Mallick, Yeseo Choi, Alison M. Taylor, Pippa F. Cosper   +3 more
doaj   +1 more source

Perspectives on Fetal Sex and Prenatal Diagnosis of Differences of Sex Development Among Midwives

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Cell‐free DNA screening has increased prenatal diagnosis/suspicion of fetal differences of sex development (DSD). This study explored how midwives discuss fetal sex and possible DSD with pregnant patients. Method Active members of the American College of Nurse‐Midwives were surveyed electronically to assess terminology use when ...
Madeline Dingle, Sharon Aufox, Emilie K. Johnson, Jeffrey S. Dungan, Aimee Clark, Katie Abihider, Allison Goetsch Weisman   +6 more
wiley   +1 more source