Results 101 to 110 of about 62,388 (273)

Whole Genome Sequencing in Prenatal Diagnostics: The Danish Approach to Guideline Formation and Implementation Within Public Healthcare

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To describe the implementation of whole genome sequencing (WGS) in prenatal diagnostics and outline the national guideline system facilitating this. Methods Clinical guidelines for WGS in prenatal diagnostics were developed and implemented by the Danish Fetal Medicine Society.
Ida Vogel, Lotte Andreasen, Marie Balslev‐Harder, Naja Becher, Anja Ernst, Kasper Gadsbøll, Tina Duelund Hjortshøj, Marie Skov Hvidbjerg, Martin Larsen, Stina Lou, Ida Charlotte Bay Lund, Lars Henning Pedersen, Laura Kirstine Sønderberg Roos, Lene Sperling, Lone Sunde, Pernille Mathiesen Tørring, Cathrine Vedel, Olav Bjørn Petersen   +17 more
wiley   +1 more source

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

Can biparietal diameter-to-femur length ratio be a useful sonographic marker for screening thanatophoric dysplasia since the first trimester? A literature review of case reports and a retrospective study based on 10,293 routine fetal biometry measurements

Taiwanese Journal of Obstetrics & Gynecology, 2017
Objective: The aim of the study was to determine whether the biparietal diameter/femur length (BPD/FL) ratio can be used to detect thanatophoric dysplasia in the first trimester of pregnancy.
Liangcheng Wang, Yasushi Takai, Kazunori Baba, Yukiko Mikami, Masahiro Saito, Isao Horiuchi, Ryo Konno, Kenjiro Takagi, Hiroyuki Seki   +8 more
doaj   +1 more source

Skeletal dysplasias [PDF]

Archives of Disease in Childhood, 1998
C G, Brook, B B, de Vries
openaire   +2 more sources

Use of Denosumab in Children With Osteoclast Bone Dysplasias: Report of Three Cases. [PDF]

, 2019
Denosumab has been used successfully to treat disease-associated osteoclast overactivity, including giant cell tumor of bone. Given its mechanism of action, denosumab is a potent potential treatment of other osteoclast bone dysplasias including central ...
Bernthal, Nicholas M, Bukata, Susan, Eilber, Fritz C, Federman, Noah C, Felsenfeld, Alan L, Nelson, Scott D, Singh, Arun, Upfill-Brown, Alexander, Wesseling-Perry, Katherine   +8 more
core   +2 more sources

Diagnostic Yield of Post‐Mortem Fetal Micro‐CT for Abdominal and Pelvic Anomalies

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective(s) This study aims to document the abdominal and pelvic anomalies that can be demonstrated using post mortem Micro‐CT, independent of whether the anomaly contributed to the main diagnosis or cause of death. Methods We retrospectively analyzed 1200 whole body post‐mortem fetal Micro‐CT scans in an unselected, consecutive cohort ...
Ian C. Simcock, Audrey Lamouroux, Susan C. Shelmerdine, J. Ciaran Hutchinson, Neil J. Sebire, Owen J. Arthurs   +5 more
wiley   +1 more source

Spectrum of arthroscopic findings in 84 canine elbow joints diagnosed with medial compartment erosion [PDF]

, 2018
Elbow dysplasia is an important cause of forelimb lameness in large breed dogs. The aim of this study was to report on the arthroscopic findings associated with medial compartment erosion (MCE) of the canine elbow joint.
Broeckx, Bart, Coppieters, Eva, de Bakker, Evelien, Samoy, Yves, Van der Vekens, Elke, Van Ryssen, Bernadette, Verhoeven, Geert   +6 more
core  

The paradox of cancer genes in non-malignant conditions: implications for precision medicine. [PDF]

, 2020
Next-generation sequencing has enabled patient selection for targeted drugs, some of which have shown remarkable efficacy in cancers that have the cognate molecular signatures.
Adashek, Jacob J, Kato, Shumei, Kurzrock, Razelle, Lippman, Scott M   +3 more
core  

Gene List Selection Matters: Missed Diagnoses in Prenatal Exome Sequencing—PanelApp R21 and HPO‐Driven Versus OMIM‐Based Gene Lists

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate whether the causative variants found upon clinical exome sequencing in fetuses affected with selected structural anomalies would also be detected if PanelApp‐R21 or Human Phenotype Ontology (HPO)‐driven gene selection terms were applied instead.
Victoria Ardiles‐Ruesjas, Laia Rodriguez‐Revenga, Montse Pauta, Alfons Nadal, Gemma Arca, Laura Gort, Stiven Ernesto Sinisterra‐Díaz, Antoni Borrell   +7 more
wiley   +1 more source

Bresek Syndrome

Pediatric Neurology Briefs, 1997
Two half brothers with a new syndrome of brain anomalies, retardation, ectodermal dysplasia with alopecia, skeletal malformations, ear abnormalities, and kidney dysplasia (BRESEK) are reported from the University of Minnesota, Minneapolis.
J Gordon Millichap
doaj   +1 more source