Showing 1 - 16 results of 16 for search '"Neurodevelopmental delay"', query time: 0.06s Refine Results
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    Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorder by Rina Shimomura, Tomoe Yanagishita, Kumiko Ishiguro, Minobu Shichiji, Takatoshi Sato, Keiko Shimojima Yamamoto, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Keiko Ishigaki, Satoru Nagata, Yoshihiro Asano, Toshiyuki Yamamoto

    Published 2024-01-01
    “…Although the patient exhibited severe neurodevelopmental delay, other clinical features of ODDD, including limb anomalies, were mild. …”
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    Dysmorphic Facial Features and Other Clinical Characteristics in Two Patients with PEX1 Gene Mutations by Mehmet Gunduz, Ozlem Unal

    Published 2016-01-01
    “…Case I was one-year-old girl that presented with neurodevelopmental delay, hepatomegaly, bilateral hearing loss, and visual problems. …”
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    Sagittal Craniosynostosis with Uncommon Anatomical Pathologies in a 56-Year-Old Male Cadaver by Andrey Frolov, Craig Lawson, Joshua Olatunde, James T. Goodrich, John R. Martin III

    Published 2019-01-01
    “…Sagittal craniosynostosis (CS) is a pathologic condition that results in premature fusion of the sagittal suture, restricting the transverse growth of the skull leading in some cases to elevated intracranial pressure and neurodevelopmental delay. There is still much to be learned about the etiology of CS. …”
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    Clinical characteristics of and growth hormone treatment effects on short stature with type 1 insulin-like growth factor receptor (IGF1R) gene alteration by Yuki Kawashima-Sonoyama, Keisuke Wada, Kei Yamamoto, Masanobu Fujimoto, Noriyuki Namba, Takeshi Taketani

    Published 2024-07-01
    “…Cases with deletions showed a more severe degree of growth impairment (–4.5 ± 0.43 SD) than those caused by pathological variants (–2.71 ± 0.15 SD) and were accompanied by neurodevelopmental delay. However, cases caused by pathological variants lacked distinctive features. …”
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    The long-term outcome of children with VP shunt and hydrocephalus: motor developmental outcome and QOL of patients with hydrocephalus is associated with the number of revisional pr... by Danielle S. Wendling-Keim, Hannah Luz, Elena Kren, Oliver Muensterer, Markus Lehner

    Published 2025-01-01
    “…PurposeDespite constant advances in ventriculo-peritoneal shunt systems, pediatric patients with hydrocephalus may present with neurodevelopmental delay. Therefore, we performed a study including a questionnaire, which aimed to analyze parameters that may have an impact on the cognitive function and quality of life of the pediatric patient with hydrocephalus.MethodsIn this retrospective study, we included 81 patients aged 0–17 with hydrocephalus who were treated with a ventriculo-peritoneal shunt at a single institution. …”
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    Newborn screening for congenital hypothyroidism: worldwide coverage 50 years after its start by Marta Arrigoni, Nitash Zwaveling-Soonawala, Stephen H LaFranchi, A S Paul van Trotsenburg, Christiaan F Mooij

    Published 2025-01-01
    “…Background: Congenital hypothyroidism (CH) is a preventable cause of neurodevelopmental delay in children, detectable by newborn screening (NBS) programs for CH. …”
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    A guide to selecting high-performing antibodies for Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform (PPP2R5D) for use in Western Blot, immunoprecipi... by Carl Laflamme, Kathleen Southern, Riham Ayoubi, Maryam Fotouhi, Charles Alende

    Published 2024-07-01
    “…Pathogenic mutations in the PPP2R5D gene are linked to clinical symptoms characterized by neurodevelopmental delay, intellectual disability, and autism spectrum disorders. …”
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    Cerebral Microhemorrhages in Children With Congenital Heart Disease: Prevalence, Risk Factors, and Association With Neurodevelopmental Outcomes by Kristen N. Andersen, Sicong Yao, Brian R. White, Marin Jacobwitz, Jake Breimann, Jharna Jahnavi, Alexander Schmidt, Wesley B. Baker, Tiffany S. Ko, J. William Gaynor, Arastoo Vossough, Rui Xiao, Daniel J. Licht, Evelyn K. Shih

    Published 2025-02-01
    “…Background Infants with congenital heart disease require early lifesaving heart surgery, which increases risk for brain injury and neurodevelopmental delay. Cerebral microhemorrhages (CMH) are frequently seen after surgery, but whether they are benign or constitute injury is unknown. …”
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    Beyond Dermatological Findings: Multisystem Involvement in Prolidase Deficiency by Ezgi Yalcin Gungoren, Zeynep Meric, Asena Pinar Sefer, Asuman Deveci Ozkan, Salim Can, Royala Babayeva, Nurhan Kasap, Ercan Nain, Esra Ozek Yucel, Ayca Kiykim, Sevgi Bilgic-Eltan, Ayse Deniz Yucelten, Elif Karakoc-Aydiner, Ahmet Ozen, Safa Baris

    Published 2025-01-01
    “…The main presenting complaints of the patients were skin lesions (100%), dysmorphic features (100%), neurodevelopmental delay (100%), frequent infections (100%), and prolonged diarrhea (50%). …”
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    Contextual Vulnerability Should Guide Fair Subject Selection in Xenotransplantation Clinical Trials by Gianna Strand

    Published 2023-03-01
    “…., et al., “Use of Neurodevelopmental Delay in Pediatric Solid Organ Transplant Listing Decisions: Inconsistencies in Standards Across Major Pediatric Transplant Centers,” Pediatric Transplant 13, no. 7 (2009): 843-50. …”
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    The role of HEPCAM in Jacobsen syndrome: A pediatric case report highlighting white matter abnormalities by Ghazaleh Ghorbannezhad, Reza Nejad Shahrokh Abadi, Farrokh Seilanian Toosi, Shima Shekari, Saeedeh Sadat Mirtooni, Narges Hashemi

    Published 2025-03-01
    “…JS has various phenotypic features, such as neurodevelopmental delays and congenital heart defects. Furthermore, deletion mutations in the long arm of chromosome 11 can also give rise to Megalocephalic Leukoencephalopathy (MLC), affecting the HEPCAM gene. …”
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    PHYSICAL ACTIVITY AND ADHD: EVIDENCE ON DEVELOPMENT, TRANSIENT AND DURABLE NEUROCOGNITIVE EFFECTS, AND APPLICATIONS by María Enid Santiago Rodriguez, Jared Donald Ramer, Guilherme M. Balbim, Tara Gisela Mehta, Stacy Lynn Frazier

    Published 2019-06-01
    “…PENSAR EN MOVIMIENTO: Revista de Ciencias del Ejercicio y la Salud, 17(1), 1-25.Attention-Deficit/Hyperactivity Disorder (ADHD) is characterized by neurodevelopmental delays. Physical activity (PA) may influence many of the same neurocognitive systems affected by ADHD. …”
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