Results 271 to 280 of about 178,485 (305)

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

Prenatal Diagnosis, EarlyView.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear, Beltran Borges, Billie R. Lianoglou, Tony Lum, Emma Canepa, Jennifer L. Cohen, Julia E. H. Brown, Akos Herzeg   +7 more
wiley   +1 more source

Whole-exome sequencing reveals GRHPR gene mutation in a 4-year-old girl with chronic kidney disease: a case report. [PDF]

Ann Med Surg (Lond)
Farooq B, Qureshi ZH, Lodhi MS, Faisal M, Khan E, Khalid M.   +5 more
europepmc   +1 more source

A STOP‐Gain RNF213 Variant Causes Chorea, Stroke‐Like Episodes, and Leigh Syndrome‐Like Encephalopathy

Movement Disorders, EarlyView.
Roberta Bovenzi, Mariasavina Severino, Jennifer Nichols, Fred Shen, Ignacio J. Keller Sarmiento, Bernabe I. Bustos, Lisa Kinsley, Dimitri Krainc, Niccolò E. Mencacci   +8 more
wiley   +1 more source

Diagnostic Value of Exome Sequencing in Isolated Polyhydramnios

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield of exome sequencing (ES) in isolated polyhydramnios. Methods This retrospective study included 40 cases of isolated polyhydramnios. All patients underwent screening for gestational diabetes mellitus (GDM) and chromosomal microarray analysis (CMA).
Vered Offen Glassner, Adi Botvinik, Adi Mory, Adi Reches, Karina Krajden Haratz, Britannia Morgan Fleming, Hagit Baris Feldman, Lena Sagi‐Dain, Mordechai Shohat, Rayna Joy Goldstein, Yuval Yaron, Michal Levy   +11 more
wiley   +1 more source

Prenatal trio-based whole exome sequencing in fetuses with congenital pulmonary airway malformation. [PDF]

Transl Pediatr
Yu Q, Chen J, Li H, Xue J, Meng C, Hong H, Qin W, Chen C.   +7 more
europepmc   +1 more source

Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Spinal dysraphism (SD) results from incomplete neural tube closure and encompasses a heterogeneous group of congenital anomalies with genetic and environmental etiologies. Although genetic contributions are recognized, causative variants remain insufficiently defined, and the clinical implications of extended genetic testing on ...
I. Bedei, A. Feresin, R. Zemet, D. Berner, D. Polidori, K. Fröbius, A. Skakkebæk, R. Axt‐Fliedner, M. Shoukier, C. Keil   +9 more
wiley   +1 more source

Ethnic genomic differences in esophageal squamous cell carcinoma: Whole-exome sequencing of Han and Kazakh populations in China. [PDF]

World J Gastroenterol
Wei MX, Lei LL, Xu RH, Liu YX, Wang R, Han WL, Fan ZM, Xiao FK, Sheyhidin I, Ma L, Ku JW, Yin MZ, Ji AF, Bao QD, Gao SG, Han XN, Li XM, Chen PN, Zhao XK, Song X, Wang LD.   +20 more
europepmc   +1 more source

Genetic Characterization of 128 Chinese Individuals with Neurodevelopmental Disorders via Whole-Exome Sequencing.

Dev Neurosci
Qin Y, Cao H, Liu L, Yi M, Wang T, Zeng L, Wang X, Xu R, Zhang C, Li H, Song J.   +10 more
europepmc   +1 more source

Hemoglobin suresnes combined with α⁰-thalassemia: Diagnostic challenges and insights from trio-based whole exome sequencing. [PDF]

Ann Hematol
Liu HL, Huang WT.
europepmc   +1 more source

Clinical benefit of additional whole-exome sequencing over panel sequencing in an all-comer real-world molecular tumor board. [PDF]

ESMO Open
Krieghoff-Henning E, Michaeli T, Boch T, Kirchhof J, Haselmann V, Neumaier M, Hofmann WK, Betge J, Ebert M, Teufel A, Ast V, Sauer C, Cotarelo C, Lozynskyy R, Janning M, Marmé F, Sütterlin M, Streuer A, Siegel F, Brochhausen C, Collienne M, Nowak D, Loges S.   +22 more
europepmc   +1 more source