Results 211 to 220 of about 97,595 (299)

Chorionic Villus Sampling in the Era of Genomic Medicine: A Gateway to Early and Personalized Prenatal Diagnosis. [PDF]

Appl Clin Genet
Wysocka U, Stępniewska J, Kozłowska M, Kucińska A, Banaś-Leżańska P, Ałaszewski W, Dudarewicz L, Kaczmarek P, Grzesiak MS, Gach A.   +9 more
europepmc   +1 more source

Clinical Outcomes Associated With Long‐Acting Beta Agonist Escalation in Preschool Children With Severe Asthma: A Retrospective Hospital Based Clinic Cohort Study

Pediatric Pulmonology, Volume 61, Issue 5, May 2026.
ABSTRACT Background We define adherent, difficult‐to‐treat asthma as ‘true severe asthma.' In preschool children, evidence for add‐on long‐acting beta‐agonists (LABA) to inhaled corticosteroids (ICS) in those with persistent uncontrolled disease despite high‐dose ICS remains limited. We evaluated clinical outcomes of ICS–LABA therapy in this population.
Adi Meridor Eizner, Avigdor Mandelberg, Adi Ovadia, Keren Armoni Domany   +3 more
wiley   +1 more source

Concomitant Chromosomal and Molecular Aberrations in Trisomy 8 Mosaicism and Associated Compound Phenotypes: Report of Three Cases and Review of Literature. [PDF]

Case Rep Genet
Abdelhamed Z, Dykas D, DiAdamo A, Chai H, Ma D, Spencer-Mazon M, Jiang YH, Wen J, Bale A, Li P, Zhang H.   +10 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

3D Geometric Morphometric Analysis on Sexual Dimorphism in the Sella Turcica in Romanov Sheep Using CT Scan

Veterinary Medicine and Science, Volume 12, Issue 3, May 2026.
Three‐dimensional geometric morphometric analysis is a shape analysis method used to explain sexual dimorphism. In this context, a total of 13 anatomical landmarks were defined and analysed in the study, resulting in sex‐related shape variations. The study identified sex‐related morphological differences in the sella turcica structures of Romanov sheep
İhsan Berat Kiliçli, Ezgi Deniz Mavili, Ezgi Aksoy, Hasen Awel Yunus, İdil Ünal, Barış Batur, Oleksii O. Melnyk, Caner Bakici   +7 more
wiley   +1 more source

Indication and diagnostic method selection for invasive prenatal genetic testing – review of the literature and conclusions of the Austrian consensus conference on prenatal genetic testing. [PDF]

Med Genet
Verheyen S, Pertl B, Bierbaumer S, Fazelnia C, Jauch SF, Klaritsch P, Krampl-Bettelheim E, Kühberger S, Reischer T, Reiter R, Scharnreitner I, Steiner H, Zschocke J, Pfeifer M.   +13 more
europepmc   +1 more source

The Importance of Clinical Acumen for Prenatal Diagnosis in an Increasingly Technological World

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 619-622, May 2026.
Teresa N. Sparks, Lyn S. Chitty
wiley   +1 more source

Intestinal Atresia in Finland: Maternal Risk Factors, Prevalence, Associated Anomalies and Survival

Acta Paediatrica, Volume 115, Issue 5, Page 1070-1076, May 2026.
ABSTRACT Aim We aimed to investigate prevalence, associated anomalies and survival of congenital intestinal atresia and to examine maternal risk factors for jejunoileal atresia (JIA). Methods All children born with, or pregnancies terminated because of, JIA or colonic atresia (CA) in Finland during 1987–2019 were identified from the Finnish Register of
Esko Tahkola, Arimatias Raitio, Ilkka Helenius, Johanna Syvänen, Teemu Kemppainen, Eliisa Löyttyniemi, Maarit K. Leinonen, Mika Gissler, Topi Luoto, Mikko P. Pakarinen   +9 more
wiley   +1 more source

The Multifactorial Causes of Down Syndrome During Pregnancy: A Narrative Review of Genetic, Environmental, and Maternal Influences. [PDF]

Health Sci Rep
Rana MS, Parvin MM, Islam MT.
europepmc   +1 more source

Fetal Fraction Signatures: A Quality Control Tool to Detect Potentially Confounding Situations in NonInvasive Prenatal Diagnosis of Monogenic Conditions

Clinical Genetics, Volume 109, Issue 5, Page 869-875, May 2026.
Noninvasive prenatal diagnosis for monogenic diseases (NIPD‐M) to detect inherited mutations is performed in parallel with fetal fraction signatures, to detect various anomalies that may compromise diagnosis. An extra regression analysis may be necessary to resolve mosaic situations. ABSTRACT Noninvasive prenatal diagnosis relies on the analysis of the
Jean‐Louis Blouin, Claudine Rieubland, Thierry Nouspikel   +2 more
wiley   +1 more source