Results 241 to 250 of about 190,606 (311)

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

CBCT-based volumetric assessment of the maxillary sinus in temporomandibular disorder: Integration of morphometric analysis and classical machine learning classification. [PDF]

PLoS One
Bölgen Ç, Polat S, Tunç M, Yüksel HD, Öksüzler M, Çoban Ö, Yentar Ö, Özşahin E, Göker P.   +8 more
europepmc   +1 more source

Diagnostic Yield of Sequencing for Prenatal Diagnosis of Fetal Structural Anomalies: An Updated Systematic Review

Prenatal Diagnosis, EarlyView.
ABSTRACT The clinical utility of sequencing in prenatal diagnosis is known, but diagnostic yield varies widely depending on clinical indication. Here we update an earlier systematic review reporting the diagnostic yield of prenatal sequencing in structurally abnormal fetuses, with particular focus on factors affecting diagnostic yield.
Karen Mei Xian Lim, Alexander Gibbs, Elizabeth Scotchman, Graeme Smith, Lyn S. Chitty, Natalie J. Chandler   +5 more
wiley   +1 more source

Genetic Disorders Detectable by Fetal MRI: A Review. [PDF]

Diagnostics (Basel)
Wong KC, Chow TH, Cheung C, Chan JPK, Lee JCY, Kan EYL, Chu WCW.   +6 more
europepmc   +1 more source

Phenotypic Spectrum and Chromosomal Discordance in Alobar Holoprosencephaly: A Comparative Case Series from a Tertiary Referral Center. [PDF]

Int Med Case Rep J
Caropeboka MFA, Nisa AS, Pramatirta AY, Pribadi A, Mose JC.   +4 more
europepmc   +1 more source

Congenital syngnathia: a case report of osseous fusion between the maxilla and mandible. [PDF]

Front Pediatr
Wang H, Zhang L, Li J.
europepmc   +1 more source

Integrating imaging and genomics in prenatal Treacher Collins syndrome: evidence for practice and policy. [PDF]

Orphanet J Rare Dis
Li C, Huang W, Gan Z, Ling Y, Qiu L, Xiao Y, Xiong F, Yang F.   +7 more
europepmc   +1 more source

Partial craniofacial duplication in a resource-limited setting: a case report. [PDF]

Int J Surg Case Rep
Yefter ET, Belay SA, Workneh ZA, Woldemeleak MW.   +3 more
europepmc   +1 more source