Results 221 to 230 of about 52,839 (293)

Epileptic–Dyskinetic Encephalopathy Associated with a PPP3CA Variant: Expansion of the Phenotypic Spectrum

Movement Disorders Clinical Practice, EarlyView.
Bruno Antunes Contrucci, Ursula Thomé, Larissa Aparecida Batista, Ana Laura Volpi Martins Lorenzoni, Carla Andrea Cardoso Tanuri Caldas, Americo Ceiki Sakamoto, Israel Gomy, Lisandra Mesquita Batista, Marcela Lopes de Almeida, Ana Paula Andrade Hamad, Guillermo Andrey Ariza Traslaviña   +10 more
wiley   +1 more source

Congenital Intraoral Synechiae: A Scoping Review of Airway, Feeding, and Surgical Management

Otolaryngology–Head and Neck Surgery, EarlyView.
Abstract Objective To map the existing literature on congenital intraoral synechiae and summarize reported anatomic patterns, clinical presentation, associated anomalies/syndromes, and outcomes to inform standardized diagnostic and therapeutic approaches. Data Sources PubMed, CINAHL, Embase, Web of Science, and Google Scholar were searched from January
Jason Bernier, Mathieu Bergeron
wiley   +1 more source

Targeted long-read genomic and epigenomic profiling enhances timely comprehensive variant discovery in hypotonia and muscle weakness. [PDF]

BMC Med
Abuijlan E, Sinha S, Ramaswamy S, Jain R, Chekroun I, Rabea F, El Naofal M, Khadija S, Sharaf R, Alkhnbashi OS, Ali F, Alsheikh-Ali A, Abou Tayoun A.   +12 more
europepmc   +1 more source

Post‐tonsillectomy Respiratory Complications in Children With Obesity: Systematic Review and Meta‐analysis

Otolaryngology–Head and Neck Surgery, EarlyView.
Abstract Objective To quantify and compare the risk of respiratory complications between children with and without obesity after tonsillectomy (with or without adenoidectomy). Data Sources Ovid MEDLINE, Embase, CINAHL, and Clarivate Web of Science. Review Methods Studies that reported post‐tonsillectomy respiratory complications in patients <18 years ...
Erin M. Kirkham, Nikhila Raol, Sharmi C. Amin, Bo Hyun Kong, Aayush Sharma, Ahab Chopra, Mark P. MacEachern, Prasanth Pattisapu   +7 more
wiley   +1 more source

Cytogenetic and Molecular Findings in Hydrops‐Related Mirror Syndrome

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Mirror syndrome is a rare, life‐threatening condition in which maternal fluid overload mirrors fetal hydrops. Data on genetic findings in affected pregnancies are limited. We compared genetic diagnoses in hydrops cases with and without mirror syndrome.
Brian A. Burnett, Christian M. Parobek, Jessian L. Munoz, Lauren E. Westerfield, Kristi Poling, Cara Buskmiller, Amir A. Shamshirsaz, Roopali V. Donepudi, Ignatia B. Van den Veyver, Magdalena Sanz Cortes, Michael A. Belfort, Ahmed A. Nassr   +11 more
wiley   +1 more source

Expanding clinical variability in FBXW7-related neurodevelopmental disorder: a multicenter case series. [PDF]

J Neurodev Disord
Savasta S, Comisi FF, Dell'Isola GB, Di Pasquale G, Johnson I, Herman I, Comisi AM, Operto FF, Bargiacchi G, Barge-Schaapveld DQCM, Mangano GD, Carotenuto M, Salpietro V, Verrotti A.   +13 more
europepmc   +1 more source

Beyond the Negative: Insights From Postnatal Medical Genetics Follow‐Up After Nondiagnostic Prenatal Exome Sequencing

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate postnatal medical genetic reassessment and reinterpretation of prenatal exome sequencing (pES) in liveborn children with prenatally identified structural anomalies and nondiagnostic prenatal genetic testing. Method We performed a retrospective chart review of 61 liveborn children with fetal structural anomalies who had ...
Sophie Albert, Anne Swenerton, Kirsten M. Niles, Sylvie Langlois, Jessica L. Zambonin   +4 more
wiley   +1 more source

Case Report: Two siblings with a novel homozygous SLC18A2 variant causing parkinsonism-dystonia-2: a case series from Saudi Arabia. [PDF]

Front Genet
Almutair M, Hakami W.
europepmc   +1 more source

Fetal Brain Abnormalities in Trisomy 21 and Associated Neurodevelopmental Outcome: Key Factors to Identify Differences in Neurodevelopmental Outcome?

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Trisomy 21 (T21) is associated with various neurological impairments. However, the mechanisms of fetal brain development in T21 and their impact on neurodevelopmental outcomes remain unclear, limiting prenatal counseling. Therefore, this study aims to assess neuropathological changes in fetuses with T21 and the associated ...
Christina Haberl, Pilar Palmrich, Eva Karner, Patric Kienast, Sarah Glatter, Florian Heinzl, Philipp Moser, Daniela Prayer, Gregor Kasprian, Julia Binder   +9 more
wiley   +1 more source

<i>RFX3</i> Pathogenic Variants as a Rare Cause of Infantile Epileptic Spasms Syndrome. [PDF]

Int J Mol Sci
Ceraolo G, Spoto G, Trivisano M, Federico C, Vinci M, Calì F, Treccarichi S, Musumeci A, Di Rosa G, Specchio N, Nicotera AG.   +10 more
europepmc   +1 more source