Results 261 to 270 of about 120,291 (395)

Functional ability in non-ambulatory people with Duchenne muscular dystrophy or spinal muscular atrophy assessed with the EK scale

, 2002
Birgit F. Steffensen
openalex  

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

Course of joint range of motion in children with spinal muscular atrophy receiving disease-modifying treatment. [PDF]

Orphanet J Rare Dis
Oude Lansink ILB, Gorter JW, van der Pol WL, Vd Woude DR, Scheiberlich PJ, van Eijk RPA, Bartels B, Beelen A.   +7 more
europepmc   +1 more source

Additional file 7: Table S5. of Validation of a high resolution NGS method for detecting spinal muscular atrophy carriers among phase 3 participants in the 1000 Genomes Project

, 2015
Jessica Larson, Ari Silver, Dalin Chan, Carlos Borroto, Brett Spurrier, Lee M. Silver   +5 more
openalex   +1 more source

Clinical Utility of Nuchal Translucency Measurement in First‐Trimester Ultrasound Screening in a Setting With First‐Tier NIPT for Aneuploidy Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the additional clinical value of nuchal translucency (NT) measurement at the first‐trimester anomaly scan (FTAS) in a setting with first‐tier non‐invasive prenatal testing (NIPT). Method This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT
Eline E. R. Lust, Kim Bronsgeest, Lidewij Henneman, Neeltje M. T. H. Crombag, Caterina M. Bilardo, Robert‐Jan H. Galjaard, Esther Sikkel, Audrey B. C. Coumans, Ayten Elvan‐Taşpınar, Sander Galjaard, Attie T. J. I. Go, Gwendolyn T. R. Manten, Eva Pajkrt, Elisabeth van Leeuwen, Monique C. Haak, Mireille N. Bekker   +15 more
wiley   +1 more source

Can Prenatal Ultrasound and Genetic Testing Reliably Exclude Non‐Isolated Clubfoot?

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective The aim of this study is to evaluate the efficacy of prenatal second trimester ultrasound in diagnosing isolated congenital clubfoot and to assess the role of prenatal genetic testing. Methods We conducted a retrospective cohort study in the North‐West region of the Netherlands with prenatally suspected clubfoot between 16 and 24 ...
Jana M. de Vries, Arda Arduc, Elisabeth van Leeuwen, Maria B. Tan – Sindhunata, Peter Struijs, Melinda Witbreuk, Ingeborg H. Linskens, Eva Pajkrt   +7 more
wiley   +1 more source

Development of the "SMA NNE," a short neonatal neurological examination for newborns with spinal muscular atrophy. [PDF]

Eur J Pediatr
Mercuri E, Coratti G, Cutrona C, De Sanctis R, Stanca G, Cicala G, Villa M, Capasso A, Arpaia C, Sbarbati M, Krosschell K, Romeo D, Berti B, Finkel R, Pane M.   +14 more
europepmc   +1 more source

Munc13-1 restoration mitigates presynaptic pathology in spinal muscular atrophy. [PDF]

Nat Commun
Moradi M, Weingart J, Deng C, Nasouti M, Briese M, Jablonka S, Sauer M, Sendtner M.   +7 more
europepmc   +1 more source

“I'd rather be in pain than be patronized.” A qualitative study of health care experiences of persons with disabilities

PM&R, EarlyView.
Abstract Background Prior research shows that persons with disabilities (PWD) frequently receive inadequate health care and that physicians are uncomfortable caring for patients with disabilities, both of which may be attributed to the lack of disability education in medical training.
Jessica A. Prokup, Elise M. Pearson, Alan Cuevas Villagomez, Kristyn L. Felman, Amy J. Houtrow, Max B. Hurwitz   +5 more
wiley   +1 more source

Caring for children with spinal muscular atrophy in Greece: parents' and caregivers' experience with the healthcare system. [PDF]

Front Health Serv
Souliotis K, Golna C, Tzavara C, Vasileiadi C, Golnas P, Ntokou A, Binou K, Karras A.   +7 more
europepmc   +1 more source