Results 241 to 250 of about 215,860 (303)

A Novel Fetal Intracranial Measurement Contributing to the Differential Diagnosis of Fetal Microcephaly

Journal of Ultrasound in Medicine, EarlyView.
Objectives To evaluate the value of the thickness of the frontal lobe (TFL) and foramen magnum‐to‐cranium distance (FCD) for predicting poor neurodevelopmental outcomes in fetuses with a small head circumference (HC). Methods This retrospective observational study included 39 fetuses with HC < −2 standard deviations (SD) and 592 prospectively collected
Xi Du, Rong Zhu, HongJia Li, Ying Zhao, LinLin Wu, Hong Pan, YiNan Ma, XinLin Hou, JunYa Chen   +8 more
wiley   +1 more source

Detection of Chromosomal Aneuploidy Using Exome Sequencing. [PDF]

Genes (Basel)
Al-Hamed MH, Maddirevula S, Moghrabi N, Aldahmesh MA, Alfalah AH, Khouj E, Altuwaijri N, Alhossiny M, Imtiaz F, Alfares A.   +9 more
europepmc   +1 more source

Whole exome sequencing

, 2014
Bou de Pieri, Francesc, Universitat Autònoma de Barcelona. Facultat de Biociències   +1 more
openaire   +1 more source

Feasibility of Imaging the Uvula at the Midtrimester Anomaly Ultrasound

Journal of Ultrasound in Medicine, EarlyView.
Objectives The fetal palate is not routinely imaged as part of the midtrimester fetal anomaly ultrasound, despite being associated with many syndromes. The “equal sign” depicts the lateral borders of the uvula on 2‐dimensional fetal ultrasound. We assessed the feasibility of adding the equal sign to the midtrimester fetal anomaly ultrasound.
Anna Rose Sims, Lou Pistorius, Denise Sproul, Catherine Anne Cluver   +3 more
wiley   +1 more source

Whole-Exome Sequencing for the Identification of Genetic Factors Implicated in Severe Bacterial Infections: A Systematic Review. [PDF]

J Infect Dis
Gélin M, Launay É, Vince N.
europepmc   +1 more source

First Report of Homozygous COL7A1 c.5756delG Mutation Causing Recessive Dystrophic Epidermolysis Bullosa in a Non‐Consanguineous Japanese Family

JEADV Clinical Practice, EarlyView.
ABSTRACT Severe recessive dystrophic epidermolysis bullosa (RDEB) is usually caused by biallelic loss‐of‐function mutations in COL7A1. While the c.5756delG variant has been previously reported in heterozygous form, its clinical impact in homozygosity has not been described.
Nozomi Kohama, Sayaka Yamaguchi, Teruki Yanagi, Yumi Akamine, Kimiko Nonaka, Daisuke Utsumi, Kenzo Takahashi   +6 more
wiley   +1 more source

Measuring the health benefits of genome and exome sequencing: a systematic review of economic evaluations. [PDF]

Front Public Health
Riccio M, Rosso A, Siena LM, Baccolini V, Migliara G, Sciurti A, Isonne C, Iera J, Pierri F, Marzuillo C, De Vito C, La Torre G, Villari P.   +12 more
europepmc   +1 more source

Whole-exome sequencing in pediatric patients with glomerulonephritis. [PDF]

Front Genet
Peric M, Brankovic M, Stajic N, Putnik J, Paripovic A, Jankovic M, Nikolic D, Milanovic F, Novakovic I, Vukomanovic V.   +9 more
europepmc   +1 more source