Results 201 to 210 of about 794,449 (295)

Absence of Evidence of Zika Virus Infection in Cord Blood and Urine from Newborns with Congenital Abnormalities, Indonesia. [PDF]

Am J Trop Med Hyg, 2020
Putri ND, Dhenni R, Handryastuti S, Johar E, Ma'roef CN, Fadhilah A, Perma Iskandar AT, Prayitno A, Karyanti MR, Satari HI, Jumiyanti N, Aprilia YY, Sriyani IY, Dewi YP, Yudhaputri FA, Safari D, Hadinegoro SR, Rosenberg R, Powers AM, Aye Myint KS.   +19 more
europepmc   +1 more source

Cytoskeleton–Membrane Uncoupling in Duchenne Muscular Dystrophy: Implications for Newborn Screening and Early Protection

Cytoskeleton, EarlyView.
ABSTRACT The cytoskeleton of striated muscle integrates force transmission, mechanotransduction, and sarcolemmal stability through coordinated networks of sarcomeres, costameres, and intermediate filaments. Together, these systems establish mechanical continuity between the contractile apparatus, the sarcolemma, and the extracellular matrix.
Houda Cohen, Nora Hosny, Brian R. Thompson, Joseph M. Metzger   +3 more
wiley   +1 more source

Vocational and Educational Outcomes in Adults With Sturge–Weber Syndrome: Preliminary Results From a Clinical Needs Assessment

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Objective The clinical presentation of Sturge–Weber syndrome (SWS) is highly variable, with seizures during infancy and co‑occurring neurodevelopmental conditions commonly reported. Although these features are known to affect childhood functioning, their relationship to adult vocational and educational outcomes remains poorly understood.
Katharine E. Joslyn, Catherine Stephan, Anne M. Comi, Andrew T. Zabel   +3 more
wiley   +1 more source

A British Pharmacological Society Position Statement on Medications in Pregnancy and Lactation

British Journal of Clinical Pharmacology, EarlyView.
Agnesa Mustafa, Cleodie C. Swire, Reya V. Shah, Bernadette Jenner, Rory H. McLean, Muhammad Shamsher Ahmed, Adrie Bekker, Julia Zöllner, Rachel K. Scott, Robert R. Bies, Sara K. Quinney, Dagan O. Lonsdale, Emma Forton Magavern, Catriona Waitt, Anita Banerjee   +14 more
wiley   +1 more source

Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities. [PDF]

Genet Med
Scala M, Khan K, Beneteau C, Fox RG, von Hardenberg S, Khan A, Joubert M, Fievet L, Musquer M, Le Vaillant C, Holsclaw JK, Lim D, Berking AC, Accogli A, Giacomini T, Nobili L, Striano P, Zara F, Torella A, Nigro V, Cogné B, Salick MR, Kaykas A, Eggan K, Capra V, Bézieau S, Davis EE, Wells MF.   +27 more
europepmc   +1 more source

Cytogenetic Analyses in Ewes with Congenital Abnormalities of the Genital Apparatus. [PDF]

Animals (Basel), 2019
Albarella S, D'Anza E, Galdiero G, Esposito L, De Biase D, Paciello O, Ciotola F, Peretti V.   +7 more
europepmc   +1 more source

GRIA2 Variant Associated With Paradoxical Response to Perampanel Expanding the Spectrum of GRIA2‐Related Epileptic Encephalopathy: Case Report and Literature Review

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Introduction GRIA2 encodes the GluA2 ionotropic α‐amino‐3‐hydroxy‐5‐methyl‐4‐isoxazolepropionic acid (AMPA) receptor subunit. Pathogenic GRIA2 variants cause epilepsy, developmental delay, and neurobehavioral disorders. Characterizations of clinical features, including seizure types and their treatments, in patients with GRIA2‐related ...
Sai Srihitha Dommata, Chhitij Tiwari, Zheng Fan, Muge Gucsavas‐Calikoglu, Yael Shiloh‐Malawsky, Kimberly S. Foss, Stephanie N. Peck, Erin L. Heinzen, Chon Lee, Senyene E. Hunter   +9 more
wiley   +1 more source

A Rare Case of Mosaic Unbalanced Non-Robertsonian Translocation Involving Chromosomes 15 and 22 with Congenital Abnormalities in Monozygotic Twins. [PDF]

Mol Syndromol, 2020
Atli EI, Atli E, Yalcintepe S, Gurkan H.
europepmc   +1 more source

Opsoclonus in Pediatric Patients: Differential Diagnosis and a Practical Approach to Evaluation

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Opsoclonus is an ocular dyskinesia characterized by involuntary, arrhythmic, multidirectional saccades. In pediatrics, opsoclonus is most commonly attributed to the rare neuroinflammatory disorder opsoclonus‐myoclonus‐ataxia syndrome (OMAS), typically considered a paraneoplastic syndrome associated with neural crest tumors. However, opsoclonus
Aubrey C. Reed, Supreet S. Randhawa, Jason H. Peragallo, Prabhumallikarjun Patil, Grace Gombolay, Varun Kannan   +5 more
wiley   +1 more source

Various Congenital Abnormalities and Anatomic Variants of the Pancreas: A Pictorial Review. [PDF]

J Belg Soc Radiol, 2019
Kim SS, Shin HC, Hwang JA.
europepmc   +1 more source