Search Results - "Introne WJ"

Anaesthetic Management of Hermansky-Pudlak Syndrome with Major Hemorrhage: Based on a Case Report.

Authors: Akbulut, Akın Yaylak, Doruk Sincer, Yasemin et al.

Source: Turkish Journal of Anaesthesiology & Reanimation. 2026, Vol. 54 Issue 3, p221-224. 4p.

Biallelic germline DDX41 variants in a patient with bone dysplasia, ichthyosis, and dysmorphic features.

Authors: Sharma P McFadden JR Frost FG et al.

Source: Human genetics [Hum Genet] 2024 Dec; Vol. 143 (12), pp. 1445-1457. Date of Electronic Publication: 2024 Oct 25.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

Diffusion tensor imaging in Chediak Higashi Disease.

Authors: Lewis CJ Chipman SI Tifft CJ et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2025 Aug 10. Date of Electronic Publication: 2025 Aug 10.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Evaluation of platelet dense granules by transmission electron microscopy in healthy pediatric donors and pediatric patients with suspected platelet disorders.

Authors: Greenmyer, Jacob R. Chen, Dong Howell, Kyle G. et al.

Source: Platelets. Dec2025, Vol. 36 Issue 1, p1-12. 12p.

Ochronosis of the Lumbar Spine: A Case Report and Review of Literature.

Authors: ALEYAS, ABRAHAM ANAND, B. VIJAY CHANDRAPRAKASH, RISHAB et al.

Source: Journal of Clinical & Diagnostic Research. Nov2025, Vol. 19 Issue 11, p4-7. 4p.

Deletion of RAI1 noncoding exons 1–2 causes Smith–Magenis syndrome: Noncoding RAI1 deletion causes Smith-Magenis syndrome: U. Hamiel et al.

Authors: Hamiel, Uri Kurolap, Alina Chai Gadot, Chofit et al.

Source: Journal of Genetics. Jun2025, Vol. 104 Issue 1, p1-5. 5p.

Ease of sutureless aortic valve replacement in a patient with unexpected ochronosis: a case report.

Authors: Hosseini, Saeid Salari, Soheila Ansari, Mohammad Javad Alemzadeh et al.

Source: Journal of Cardiothoracic Surgery. 6/25/2024, Vol. 19 Issue 1, p1-5. 5p.

A murine model lacking Lyst recapitulates Chediak-Higashi syndrome with an earlier-onset neurodegenerative phenotype.

Authors: Greene S Talbert ML Frost FG et al.

Source: Communications biology [Commun Biol] 2025 Jul 18; Vol. 8 (1), pp. 1064. Date of Electronic Publication: 2025 Jul 18.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group UK Country of Publication: England NLM ID: 101719179 Publication Model: Electronic Cited Medium: Internet ISSN: 2399-3642 (Electronic) Linking ISSN: 23993642 NLM ISO Abbreviation: Commun Biol Subsets: MEDLINE

A rare disease causing carpal tunnel syndrome.

Authors: Agostinis, Paolo Battellino, Michele

Source: Italian Journal of Medicine. 2025, Vol. 19 Issue 4, p1-3. 3p.

Expanding the phenotype of CARS1 variants to include congenital hyperinsulinism.

Authors: Sanders, Victoria R. Edmondson, Andrew C. Yan, Albert C. et al.

Source: BMC Medical Genomics. 10/21/2025, Vol. 18 Issue 1, p1-8. 8p.

A novel 5bp deletion in HPS4 gene associates with Hermansky-Pudlak Syndrome.

Authors: Premkumar, Subramanian Shiva Sankari, Sundar Sandhra, George et al.

Source: Ophthalmic Genetics. Oct2025, Vol. 46 Issue 5, p474-478. 5p.

Homozygous HPS1 variant in an Iranian sibling pair with Hermansky–Pudlak syndrome.

Authors: Bahadoran, Ensiyeh Ramezani, Mehrzad Moghbelinejad, Sahar

Source: Egyptian Journal of Medical Human Genetics. 8/2/2025, Vol. 26 Issue 1, p1-6. 6p.

Kidney and urogenital abnormalities in Down syndrome: a meta-analysis.

Authors: Rossetti, Caterina Maria Simonetti, Giacomo D. Bianchetti, Mario G. et al.

Source: Italian Journal of Pediatrics. 4/20/2024, Vol. 50, p1-7. 7p.

cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome.

Authors: Kuptanon C Morimoto M Nicoli ER et al.

Source: Frontiers in genetics [Front Genet] 2023 Mar 08; Vol. 14, pp. 1072784. Date of Electronic Publication: 2023 Mar 08 (Print Publication: 2023).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE

Hermansky-Pudlak syndrome 2 — a novel mutation with factor VII deficiency: a fluke from India.

Authors: Gupta, Vibha Dave, Rutvi Gautam Geever, Tulasi et al.

Source: Journal of Rare Diseases. 7/29/2025, Vol. 4 Issue 1, p1-9. 9p.

Comprehensive analysis of a novel LYST mutation in a Tunisian patient with Chediak-Higashi syndrome.

Authors: Amri, Yessine Chouchene, Saoussen Foddha, Hajer et al.

Source: BMC Medical Genomics. 5/27/2025, Vol. 18 Issue 1, p1-13. 13p.

Chedíak-Higashi Syndrome: Hair-to-toe spectrum.

Authors: Greene S Soldatos A Toro C et al.

Source: Seminars in pediatric neurology [Semin Pediatr Neurol] 2024 Dec; Vol. 52, pp. 101168. Date of Electronic Publication: 2024 Nov 08.

Publication Type: Journal Article; Review; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural

Journal Info: Publisher: W.B. Saunders Country of Publication: United States NLM ID: 9441351 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1558-0776 (Electronic) Linking ISSN: 10719091 NLM ISO Abbreviation: Semin Pediatr Neurol Subsets: MEDLINE

Sclerouveitis as Part of Multiple Autoimmune Syndrome in a Patient with Alkaptonuria: A Case Report.

Authors: Cifuentes-González, Carlos Rojas-Carabali, William Sierra-Cote, María Camila et al.

Source: Ocular Immunology & Inflammation. Jul2024, Vol. 32 Issue 5, p758-762. 5p.

Alkaptonuria in two Colombian patients: identification of HGD variants including a novel finding.

Authors: León-Sanabria MC Zarante-Bahamón AM

Source: BMC medical genomics [BMC Med Genomics] 2026 Apr 10; Vol. 19 (1). Date of Electronic Publication: 2026 Apr 10.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794 (Electronic) Linking ISSN: 17558794 NLM ISO Abbreviation: BMC Med Genomics Subsets: MEDLINE

Neurological findings may be initial presenting symptom in children with inborn errors of immunity.

Authors: Kulhas Celik I Tekcan D Celik H et al.

Source: Acta neurologica Belgica [Acta Neurol Belg] 2026 Mar 27. Date of Electronic Publication: 2026 Mar 27.

Publication Type: Journal Article

Journal Info: Publisher: Springer Country of Publication: Italy NLM ID: 0247035 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2240-2993 (Electronic) Linking ISSN: 03009009 NLM ISO Abbreviation: Acta Neurol Belg Subsets: MEDLINE