Results 181 to 190 of about 27,962 (302)

Evolving Features of RASopathies Among Pregnancies With Abnormal Fetal Fluid Collections

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective We aimed to characterize the fetal features across gestation and describe genotype‐phenotype correlations for pregnancies with fetal RASopathies that were more severely affected as they presented with at least one abnormal fluid collection.
Natalie B. Gulrajani, John Boscardin, Billie R. Lianoglou, Katie Tick, Carmen M. A. Santoli, Kristen A. Miller, Angie C. Jelin, Lorraine Dugoff, Rose Giardine, Cori Feist, Rachel Pilliod, Stephanie Dukhovny, Kelly Gilmore, Neeta L. Vora, Aisling Murphy, Peter N. Robinson, Mary E. Norton, Teresa N. Sparks   +17 more
wiley   +1 more source

Unravelling the Mystery of Vestibular Paroxysmia: A Case Series. [PDF]

Cureus
Manchikanti V, Kulakarni P, Bapat M, Jose B.   +3 more
europepmc   +1 more source

Functional Sneeze: A Case Report

Movement Disorders Clinical Practice, EarlyView.
Alexandra Lodge, Barnaby J. Proctor, Jan Coebergh   +2 more
wiley   +1 more source

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

Backwards and Bilateral: An Unexpected Variation of the Palmaris Longus. [PDF]

Cureus
Apte S, Mitchell NR, Kania I, Uduma U, Afolabi AG.   +4 more
europepmc   +1 more source

NONO‐Related Syndromic X‐Linked Developmental Disability 34: Further Clinical and Molecular Delineation in a Prenatal Cohort

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To characterize the prenatal sonographic features across different trimesters and genomic spectrum of NONO‐related X‐linked intellectual developmental disorder. Method We analyzed two fetuses presenting with corpus callosum agenesis and rare cardiac anomalies using genome sequencing and exome sequencing.
Yilin Zhao, Gang Zou, Mengmeng Shi, Kwok Ming Law, So Ling Lau, Meng Meng, Yuen Ha Ting, Chiu Yee Liona Poon, Zirui Dong, Matthew Hoi Kin Chau, Tak Yeung Leung, Kwong Wai Choy, Xinwen Zhang, Ye Cao   +13 more
wiley   +1 more source

Rare Presentation of Thoracic Outlet Syndrome with First Rib Fracture - Case Report. [PDF]

J Orthop Case Rep
Rohith K, Ganesh A, Rajappa S.
europepmc   +1 more source

Exploring the Reproductive Toxicity of Bisphenol S Through a Network Toxicology and Molecular Docking Analysis

Pediatric Discovery, EarlyView.
Utilizing network toxicology, molecular docking, and dynamic simulations to investigate the potential reproductive toxicity of bisphenol S (BPS). ABSTRACT The aim of this study was to investigate the potential reproductive toxicity of bisphenol S (BPS) and the related molecular mechanisms through a network toxicology approach.
Siyuan Wang, Yan Fu, Xu Huang, Qitong Guo, Xiangqin Zheng, Shengde Wu, Lianju Shen, Guanghui Wei   +7 more
wiley   +1 more source

Ophthalmoplegia Caused by Non-Aneurysm Neurovascular Conflict: Clinical Cases of Eight Patients. [PDF]

Rev Neurol
Kong X, Cui S, Wang J, Jiang H.
europepmc   +1 more source

A Comprehensive Review of the Genetic Etiology and Management of Orofacial Clefts

Pediatric Discovery, EarlyView.
ABSTRACT Cleft lip (CL) and cleft palate (CP), collectively referred to as orofacial clefts (OFCs), are among the most common birth defects and can have significant effects on speech, nutrition, and physical and psychosocial development. Manifestation, classification, and treatment plans of OFCs are diverse and not standardized.
Emily Kim, Rebeka Dejenie, Caroline Kim, Russell Reid   +3 more
wiley   +1 more source