Search Results - "Burin-des-Roziers C"

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.

Authors: Quinodoz M Rodenburg K Cvackova Z et al.

Source: Nature genetics [Nat Genet] 2026 Jan; Vol. 58 (1), pp. 169-179. Date of Electronic Publication: 2026 Jan 09.

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

Journal Info: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

Detailed structural abnormalities associated with a novel VCAN variant in a family with versican vitreoretinopathy.

Authors: Zhong, Anny Sumaroka, Alexander Tsui, Jonathan C. et al.

Source: Ophthalmic Genetics. Aug2025, Vol. 46 Issue 4, p370-379. 10p.

Diagnoses of double heterozygous NF1 variants and dual RASopathy.

Authors: Angelova-Toshkina D Schanze D Vaassen P et al.

Source: Molecular and cellular pediatrics [Mol Cell Pediatr] 2026 Apr 15; Vol. 13 (1). Date of Electronic Publication: 2026 Apr 15.

Publication Type: Journal Article; Review

Journal Info: Publisher: Springer Country of Publication: Germany NLM ID: 101660689 Publication Model: Electronic Cited Medium: Print ISSN: 2194-7791 (Print) Linking ISSN: 21947791 NLM ISO Abbreviation: Mol Cell Pediatr Subsets: PubMed not MEDLINE

Dermoscopy-Guided High-Frequency Ultrasound Imaging of Subcentimeter Cutaneous and Subcutaneous Neurofibromas in Patients with Neurofibromatosis Type 1.

Authors: Kerekes, Krisztina Boostani, Mehdi Metyovinyi, Zseraldin et al.

Source: Journal of Clinical Medicine. Jan2026, Vol. 15 Issue 2, p475. 12p.

First Report of a Low-Frequency Mosaic Mutation in the Hydroxymethylbilane Synthase Gene Causing Acute Intermittent Porphyria.

Authors: Belosevic, Adrian Minder, Anna-Elisabeth Gueuning, Morgan et al.

Source: Life (2075-1729). Sep2023, Vol. 13 Issue 9, p1889. 11p.

A novel splicing variant of VCAN identified in a Chinese family initially diagnosed with familial exudative vitreoretinopathy.

Authors: Zhong, Junwei Shi, Jie Zhang, Xiaotian et al.

Source: Molecular Genetics & Genomic Medicine. Feb2023, Vol. 11 Issue 2, p1-10. 10p.

Clinical Features of Vitreomacular Traction Syndrome with Peripheral Vitreoretinal Adhesion.

Authors: Fukumoto, Masanori Sato, Takaki Oosuka, Shou et al.

Source: Clinical Ophthalmology. Jan2020, Vol. 14, p281-286. 6p.

A new mouse mutant with cleavage-resistant versican and isoform-specific versican mutants demonstrate that proteolysis at the Glu⁴⁴¹-Ala⁴⁴² peptide bond in the V1 isoform is essential for interdigital web regression.

Authors: Nandadasa S Burin des Roziers C Koch C et al.

Source: Matrix biology plus [Matrix Biol Plus] 2021 May 14; Vol. 10, pp. 100064. Date of Electronic Publication: 2021 May 14 (Print Publication: 2021).

Publication Type: Journal Article

Journal Info: Publisher: Elsevier B.V Country of Publication: Netherlands NLM ID: 101775320 Publication Model: eCollection Cited Medium: Internet ISSN: 2590-0285 (Electronic) Linking ISSN: 25900285 NLM ISO Abbreviation: Matrix Biol Plus Subsets: PubMed not MEDLINE

Identification of a germline deep intronic PTEN-deletion leading to exonization through whole genome and targeted RNA sequencing.

Authors: Boedec M Aucouturier C Cavaillé M et al.

Source: Familial cancer [Fam Cancer] 2025 Feb 07; Vol. 24 (1), pp. 21. Date of Electronic Publication: 2025 Feb 07.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: Springer Country of Publication: Netherlands NLM ID: 100898211 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-7292 (Electronic) Linking ISSN: 13899600 NLM ISO Abbreviation: Fam Cancer Subsets: MEDLINE

Correlation between large rearrangements and patient phenotypes in NF1 deletion syndrome: an update and review.

Authors: Pacot, Laurence Girish, Milind Knight, Samantha et al.

Source: BMC Medical Genomics. 3/6/2024, Vol. 17 Issue 1, p1-12. 12p.

Clinical and genetic study on two Chinese families with Wagner vitreoretinopathy.

Authors: Li, Huajin Li, Hui Yang, Lizhu et al.

Source: Ophthalmic Genetics. Oct2020, Vol. 41 Issue 5, p432-439. 8p.

What’s new in pediatric dermatology.

Authors: E., Bonifazi¹ ejpd@dermatologiapediatrica.com

Source: European Journal of Pediatric Dermatology. 2019, Vol. 29 Issue 3, p150-163. 14p.

Prognostic Values of G-Protein Mutations in Metastatic Uveal Melanoma.

Authors: Terai, Mizue Shimada, Ayako Chervoneva, Inna et al.

Source: Cancers. Nov2021, Vol. 13 Issue 22, p5749. 1p.

ADAMTS1 Is Required for Ventral Abdominal Wall Closure.

Authors: Opoku G Ikemura K Hatipoglu OF et al.

Source: The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society [J Histochem Cytochem] 2026 Jul-Aug; Vol. 74 (4), pp. 405-421. Date of Electronic Publication: 2026 Apr 28.

Publication Type: Journal Article

Journal Info: Publisher: SAGE Publications Country of Publication: United States NLM ID: 9815334 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1551-5044 (Electronic) Linking ISSN: 00221554 NLM ISO Abbreviation: J Histochem Cytochem Subsets: MEDLINE

Rare and transient anti-D antibody response in D⁻ liver transplant recipients transfused with D⁺ red blood cells.

Authors: Burin des Roziers, N. Ibanez, C. Samuel, D. et al.

Source: Vox Sanguinis. Jul2016, Vol. 111 Issue 1, p107-110. 4p.

Secondary Somatic Mutations in G-Protein-Related Pathways and Mutation Signatures in Uveal Melanoma.

Authors: Piaggio, Francesca Tozzo, Veronica Bernardi, Cinzia et al.

Source: Cancers. Nov2019, Vol. 11 Issue 11, p1688-1688. 1p.

Uveal Melanoma Metastasis.

Authors: Rossi, Ernesto Croce, Michela Reggiani, Francesco et al.

Source: Cancers. Nov2021, Vol. 13 Issue 22, p5684. 1p.

Contribution of whole genome sequencing in the molecular diagnosis of mosaic partial deletion of the NF1 gene in neurofibromatosis type 1.

Authors: Pacot L Pelletier V Chansavang A et al.

Source: Human genetics [Hum Genet] 2023 Jan; Vol. 142 (1), pp. 1-9. Date of Electronic Publication: 2022 Aug 09.

Publication Type: Case Reports; Journal Article

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

Molecular Insights and Emerging Strategies for Treatment of Metastatic Uveal Melanoma.

Authors: Mallone, Fabiana Sacchetti, Marta Lambiase, Alessandro et al.

Source: Cancers. Oct2020, Vol. 12 Issue 10, p2761. 1p.

Noninvasive Prenatal Diagnosis of a Paternally Inherited MEN1 Pathogenic Splicing Variant.

Authors: Huby T Le Guillou E Burin des Roziers C et al.

Source: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2022 Mar 24; Vol. 107 (4), pp. e1367-e1373.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375362 Publication Model: Print Cited Medium: Internet ISSN: 1945-7197 (Electronic) Linking ISSN: 0021972X NLM ISO Abbreviation: J Clin Endocrinol Metab Subsets: MEDLINE