Results 221 to 230 of about 2,632,435 (357)

Phenotypical and Genotypical Expansion of Autosomal‐Dominant KDM1A‐Related Neurodevelopmental Disorder Spectrum: A Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT KDM1A‐related neurodevelopmental disorder (CPRF, OMIM #616728) is characterized by cleft palate, global developmental delay, and distinct facial gestalt, but phenotypic knowledge of this ultra‐rare autosomal dominant disorder is limited. Here, we report on a 13‐year‐old boy with a novel heterozygous, likely pathogenic germline missense variant
Sebastian Burkart, Melanie Spanjaard, Lilian Kaufmann, Katrin Hinderhofer, Christian P. Schaaf, Markus Ries, Maja Hempel   +6 more
wiley   +1 more source

Recent Advances in Functionalized Nanoparticles for Targeted and Controlled Inner Ear Therapy via Localized Cochlear Delivery. [PDF]

J Audiol Otol
Kim DK.
europepmc   +1 more source

AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Deletions of the 3q26.33q27.2 region appear to correlate with a distinct phenotype, although there are few reported cases. Here, we present seven previously unreported individuals carrying de novo 3q27 deletions (under 5 Mb), which include the AP2M1 (adaptor‐related protein complex 2, mu‐1 subunit) gene and summarize data from 12 previously ...
Russell Gear, Paul Kalitsis, Melissa Glass, Bertrand Isidor, Catherine Vincent‐Delorme, Florence Petit, Judith M. A. Verhagen, Alexander Jorge, Ana Cristina Victorino Krepischi, Ikeoluwa Osei‐Owusu, Eva Martinez, Anne O'Donnell‐Luria, Nicole de Leeuw, Sarah Ruggiero, Ingo Helbig, Francis David I, Natasha J. Brown   +16 more
wiley   +1 more source

Evaluating the impact of the 'Blow, Breathe, Cough' health promotion intervention in resolving otitis media with effusion in children: An adaptive randomized-controlled trial protocol. [PDF]

Contemp Clin Trials Commun
Rich JR, Dymock M, Seppanen EJ, Montgomery E, Cayley T, Veselinović T, Bernabei G, Lester A, Hannigan A, Irvine N, Gidgup K, Ninyette E, Bray S, Tran TT, Swift VM, Edmunds M, Strobel N, McAullay D, Marsh J, Tay E, Kirkham LS, Thornton RB, Choi RSM, Timms L, Jackson E, Kuthubutheen J, Richmond PC, Brennan-Jones CG.   +27 more
europepmc   +1 more source

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

Effects of neoadjuvant immunotherapy on hearing in patients with head and neck squamous cell carcinoma. [PDF]

Sci Rep
Hambach B, Bilokon A, Lee J, Allemang LN, Chisholm J, Zalewski CK, Christensen J, Brewer CC, Gulley JL, Allen CT, Cunningham LL, Fernandez KA.   +11 more
europepmc   +1 more source

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy, Adriana Gomes, Tinatin Tkemaladze, Omar Abdul‐Rahman, Drew Cratsenberg, Giulia Pascolini, Giovanni Di Zenzo, Daniele Castiglia, Emily Black, Camerun Washington, Lauren Chad, Cynthia Curry, Miguel Del Campo, Nicole Fleischer, Lynne M. Bird, Anna C. E. Hurst   +15 more
wiley   +1 more source

Evaluation of the Peripheral Vestibular System due to Inner Ear Barotrauma in the Hyperbaric Environment. [PDF]

Laryngoscope Investig Otolaryngol
Bozkurt Ö, Güven SG, Taş M, Yılmaz Ş, Köder A, Bulut E.   +5 more
europepmc   +1 more source

Evolution of the mammalian middle ear and jaw: adaptations and novel structures

Journal of Anatomy, 2013
N. Anthwal, Leena Joshi, A. Tucker
semanticscholar   +1 more source

Syndrome of the Month: Bosma Arhinia Microphthalmia Syndrome

American Journal of Medical Genetics Part A, EarlyView.
Katherine J. K. Patterson, John M. Graham Jr, Natalie D. Shaw   +2 more
wiley   +1 more source