Search Results - "Burkitt-Wright E"

Natural history of hearing loss in adults with mucopolysaccharidoses across phenotype and genotype.

Authors: McCarron EP Stepien KM Summerfield N et al.

Source: Molecular genetics and metabolism [Mol Genet Metab] 2026 Jul; Vol. 148 (3), pp. 110140. Date of Electronic Publication: 2026 May 05.

Publication Type: Journal Article

Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

Noonan Syndrome: A Comprehensive Review from Clinical Delineation to the Molecular Era of RASopathies and Lifelong Cardiologic Management.

Authors: Calcaterra, Giuseppe Gagliardi, Maria Giulia Bassano, Carlo et al.

Source: Cardiogenetics. Jun2026, Vol. 16 Issue 2, p11. 13p.

Surgical Management of Intrathoracic Triton Tumors: Insights into Emerging Molecular and Epigenetic Mechanisms with a Case Series of Three Patients.

Authors: Bonis, Alessandro Busetto, Alberto Pezzuto, Federica et al.

Source: Journal of Molecular Pathology. Jun2025, Vol. 6 Issue 2, p10-N.PAG. 12p.

Molecular Diagnosis and Phenotypic Variability of Noonan Syndrome: Experience from a Romanian Multicenter Study.

Authors: Nazarie, Florina Victoria Dobrescu, Mihaela Amelia Lazea, Cecilia et al.

Source: Diagnostics (2075-4418). Apr2026, Vol. 16 Issue 8, p1207. 22p.

Unraveling the Genetic and Molecular Architecture of Autism Spectrum Disorder: Implications for Clinical Genetics and Genomic Diagnostics.

Authors: Treccarichi, Simone Vinci, Mirella Virgillito, Miriam et al.

Source: International Journal of Molecular Sciences. Apr2026, Vol. 27 Issue 7, p3278. 33p.

Brittle cornea syndrome: Integrating unique presentations and novel management options.

Authors: Balakrishnan, Jyothi Bari, Aafreen Maharana, Prafulla Kumar et al.

Source: Oman Journal of Ophthalmology. Sep-Dec2025, Vol. 18 Issue 3, p369-372. 4p.

Brittle Cornea Syndrome: Molecular Diagnosis and Management.

Authors: Zeppieri, Marco Gentile, Mattia Acquaviva, Antonio et al.

Source: Diagnostics (2075-4418). Jul2025, Vol. 15 Issue 13, p1596. 11p.

Leveraging cancer mutation data to inform the pathogenicity classification of germline missense variants.

Authors: Haque, Bushra Cheerie, David Pan, Amy et al.

Source: PLoS Genetics. 1/6/2025, Vol. 21 Issue 1, p1-21. 21p.

Parental mosaicism rather than de novo variants in FOXG1‐related syndrome and TUBA1A‐associated Tubulinopathy: Familial case reports.

Authors: Tang, Hai Xuan Lu, Y‐Thanh Ha, Thi Minh Thi et al.

Source: Molecular Genetics & Genomic Medicine. Jun2024, Vol. 12 Issue 6, p1-8. 8p.

Neuro-Ophthalmic Literature Review.

Authors: Bellows, David A. Chan, Noel C. Y. Chen, John J. et al.

Source: Neuro-Ophthalmology. Oct2022, Vol. 46 Issue 5, p351-358. 8p.

Health outcomes and drug utilisation in children with Noonan syndrome: a European cohort study.

Authors: Santoro, Michele Barisic, Ingeborg Coi, Alessio et al.

Source: Orphanet Journal of Rare Diseases. 2/17/2025, Vol. 20 Issue 1, p1-9. 9p.

A Systematic Review of Functional Brain Imaging Studies in Neurofibromatosis 1.

Authors: Wild A Tziraki M Lea-Carnall C et al.

Source: Neuropsychology review [Neuropsychol Rev] 2026 May 28. Date of Electronic Publication: 2026 May 28.

Publication Type: Journal Article; Review

Journal Info: Publisher: Kluwer Academic/Plenum Publishers Country of Publication: United States NLM ID: 9009029 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-6660 (Electronic) Linking ISSN: 10407308 NLM ISO Abbreviation: Neuropsychol Rev Subsets: MEDLINE

Calcimimetics and Vascular Calcification.

Authors: Chandu, Avinash Arana, Carolt Díaz-García, Juan Daniel et al.

Source: Toxins. Jun2025, Vol. 17 Issue 6, p297. 10p.

Mapping the Digital Mind: A Meta-Analysis of EEG Biomarkers in Cognition, Emotion, and Mental Health.

Authors: Halkiopoulos, Constantinos Gkintoni, Evgenia Boutsinas, Basilis

Source: Brain Sciences (2076-3425). Apr2026, Vol. 16 Issue 4, p368. 49p.

Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment.

Authors: Carcavilla, Atilano Cambra, Ana Santomé, José L. et al.

Source: Journal of Clinical Medicine. Aug2023, Vol. 12 Issue 15, p5003. 7p.

Biallelic novel variants in ZNF469 causing Brittle Cornea Syndrome 1: a detailed report of an Indian patient.

Authors: Gupta, Shifali Kumari, Anu Daniel, Roshan et al.

Source: Ophthalmic Genetics. Jun2024, Vol. 45 Issue 3, p294-298. 5p.

Genetic and non-genetic factors influencing phenotypic variability in neurofibromatosis type 1.

Authors: Clissa PB Sanabani SS

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2026 Apr 15; Vol. 21 (1). Date of Electronic Publication: 2026 Apr 15.

Publication Type: Journal Article; Review

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Deep Intronic LINE-1 Insertions in NF1 : Expanding the Spectrum of Neurofibromatosis Type 1-Associated Rearrangements.

Authors: Alesi, Viola Genovese, Silvia Lepri, Francesca Romana et al.

Source: Biomolecules (2218-273X). May2023, Vol. 13 Issue 5, p725. 8p.

Converging neurotrophic-immune signaling in autism spectrum disorder: integrative roles of klotho, GDNF/GFRA-1, IGF-1 and GLP-1 pathways.

Authors: Verma J Singh RK Paul S et al.

Source: Metabolic brain disease [Metab Brain Dis] 2026 May 19; Vol. 41 (1). Date of Electronic Publication: 2026 May 19.

Publication Type: Journal Article; Review

Journal Info: Publisher: Springer Country of Publication: United States NLM ID: 8610370 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-7365 (Electronic) Linking ISSN: 08857490 NLM ISO Abbreviation: Metab Brain Dis Subsets: MEDLINE

A systematic review of the literature about the cognitive and behavioral phenotype of adolescents with NF1.

Authors: Pardej, Sara K. Glad, Danielle M. Enderle, Marie J. et al.

Source: Children's Health Care. Jan-Mar2026, Vol. 55 Issue 1, p94-127. 34p.

Subjects: Adolescent development, Motor ability, Language & languages, Executive function, Neurofibromatosis 1, Teenagers' conduct of life, Systematic reviews, MEDLINE, Attention, Quality of life, Academic achievement, Online information services, Interpersonal relations, Cognition, Phenotypes, Psychology information storage & retrieval systems, Adolescence