Search Results - "Burkitt-Wright EM"

Next-generation nephrology: part 1—an aid for genetic and genomic testing in pediatric nephrology.

Authors: Gupta, Asheeta Jayasinghe, Kushani Majmundar, Amar et al.

Source: Pediatric Nephrology. Sep2025, Vol. 40 Issue 9, p2759-2777. 19p.

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.

Loss of Schwann cell's normal rhythmic core clock gene expression and gain of rhythmic expression of oncogenic driver genes in malignant NF1-associated peripheral nerve sheath tumor.

Authors: Leisz, Sandra Pelligrino, Antonio Fritzsche, Saskia et al.

Source: Molecular & Cellular Oncology. Dec2025, Vol. 12 Issue 1, p1-17. 17p.

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.

A Patient with Noonan Syndrome with a KRAS Mutation Who Presented Severe Nerve Root Hypertrophy.

Authors: Ando, Yoshihito Sawada, Mikio Kawakami, Tadataka et al.

Source: Case Reports in Neurology. 2021, Vol. 13 Issue 1, p108-118. 11p.

Outcomes of vitrectomy for retinal detachment in a patient with Ehlers-Danlos syndrome type IV: a case report.

Authors: Lumi, Xhevat Bergant, Gaber Lumi, Anila et al.

Source: Journal of Medical Case Reports. 5/19/2021, Vol. 15 Issue 1, p1-6. 6p.

Fine-mapping and cell-specific enrichment at corneal resistance factor loci prioritize candidate causal regulatory variants.

Authors: Jiang, Xinyi Dellepiane, Nefeli Pairo-Castineira, Erola et al.

Source: Communications Biology. 12/11/2020, Vol. 3 Issue 1, p1-12. 12p.

Brittle cornea syndrome: current perspectives.

Authors: Walkden, Andrew Burkitt-Wright, Emma Au, Leon

Source: Clinical Ophthalmology. Aug2019, Vol. 13, p1511-1516. 6p.

Case report of a linked brittle cornea syndrome type 2 in association with a novel mutation.

Authors: Selina, Agnes John, Deepa Loganathan, Lakshmi et al.

Source: Indian Journal of Ophthalmology. Nov2020, Vol. 68 Issue 11, p2545-2547. 3p.

Pathogenic postzygotic mosaicism in the tyrosine receptor kinase pathway: potential unidentified human disease hidden away in a few cells.

Authors: Tiemann‐Boege, Irene Mair, Theresa Yasari, Atena et al.

Source: FEBS Journal. May2021, Vol. 288 Issue 10, p3108-3119. 12p.

Genetic analysis of SOX2 and VSX2 genes in 27 Egyptian families with anophthalmia and microphthalmia.

Authors: Ammar, Tamer H. A. Ismail, Somaia Mansour, Ossama Abd Al-Motaal et al.

Source: Ophthalmic Genetics. Sep/Oct2017, Vol. 38 Issue 5, p498-500. 3p.

Identification and Management of a Novel PRDM5 Gene Pathologic Variant in a Family With Brittle Cornea Syndrome.

Authors: Sklar BA Pisuchpen P Bareket M et al.

Source: Cornea [Cornea] 2023 Dec 01; Vol. 42 (12), pp. 1572-1577. Date of Electronic Publication: 2023 Sep 15.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 8216186 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1536-4798 (Electronic) Linking ISSN: 02773740 NLM ISO Abbreviation: Cornea Subsets: MEDLINE

ZNF469 promotes extracellular matrix production in normal and keloid dermal fibroblasts.

Authors: Charoenthanakitkul, Denita Boonto, Thammachanok Nokkeaw, Archittapon et al.

Source: Molecular Medicine Reports. Nov2025, Vol. 32 Issue 5, pN.PAG-N.PAG. 1p.

Novel Zinc Finger Protein Gene 469 (ZNF469) Variants in Advanced Keratoconus.

Authors: Yildiz, Elvin Bardak, Handan Gunay, Murat et al.

Source: Current Eye Research. Oct2017, Vol. 42 Issue 10, p1396-1400. 5p.

Bruch's membrane abnormalities in PRDM5-related brittle cornea syndrome.

Authors: Porter, Louise F. Gallego-Pinazo, Roberto Keeling, Catherine L. et al.

Source: Orphanet Journal of Rare Diseases. 11/11/2015, Vol. 10 Issue 1, p1-9. 9p.

Cascade of interactions between candidate genes reveals convergent mechanisms in keratoconus disease pathogenesis.

Authors: Veerappa, Avinash M.¹ (AUTHOR) avinash.vins@gmail.com

Source: Ophthalmic Genetics. Apr2021, Vol. 42 Issue 2, p114-131. 18p.

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis.

Authors: Flex E Jaiswal M Pantaleoni F et al.

Source: Human molecular genetics [Hum Mol Genet] 2014 Aug 15; Vol. 23 (16), pp. 4315-27. Date of Electronic Publication: 2014 Apr 04.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

Brittle cornea without clinically-evident extraocular findings in an adult harboring a novel homozygous ZNF469 mutation.

Authors: Khan, Arif O. Aldahmesh, Mohammed A. Alkuraya, Fowzan S.

Source: Ophthalmic Genetics. Dec2012, Vol. 33 Issue 4, p257-259. 3p. 2 Color Photographs, 1 Graph.

Lens Subluxation and Retinal Dysfunction in a Girl with Homozygous VSX2 Mutation.

Authors: Khan, Arif O. Aldahmesh, Mohammed A. Noor, Jawaher et al.

Source: Ophthalmic Genetics. Mar2015, Vol. 36 Issue 1, p8-13. 6p.

Genetic Aspects of Keratoconus: A Literature Review Exploring Potential Genetic Contributions and Possible Genetic Relationships with Comorbidities.

Authors: Loukovitis, Eleftherios Sfakianakis, Konstantinos Syrmakesi, Panagiota et al.

Source: Ophthalmology & Therapy. Dec2018, Vol. 7 Issue 2, p263-292. 30p.