These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
142 related articles for article (PubMed ID: 37259171)
1. Maternal mosaicism in SSBP1 causing optic atrophy with retinal degeneration: implications for genetic counseling. Chang YH; Kang EY; Liu L; Jenny LA; Khang R; Seo GH; Lee H; Chen KJ; Wu WC; Hsiao MC; Wang NK Orphanet J Rare Dis; 2023 May; 18(1):131. PubMed ID: 37259171 [TBL] [Abstract][Full Text] [Related]
2. Maternal Mosaicism in SSBP1 Causing Optic Atrophy with Retinal Degeneration: Implications for Genetic Counseling. Chang YH; Kang EY; Liu L; Jenny LA; Khang R; Seo GH; Lee H; Chen KJ; Wu WC; Hsiao MC; Wang NK Res Sq; 2023 Mar; ():. PubMed ID: 36993412 [No Abstract] [Full Text] [Related]
3. The importance of genome sequencing: unraveling Jun JW; Seo Y; Han SH; Han J Ophthalmic Genet; 2023 Jun; 44(3):286-290. PubMed ID: 35946466 [TBL] [Abstract][Full Text] [Related]
4. SSBP1 mutations in dominant optic atrophy with variable retinal degeneration. Jurkute N; Leu C; Pogoda HM; Arno G; Robson AG; Nürnberg G; Altmüller J; Thiele H; Motameny S; Toliat MR; Powell K; Höhne W; Michaelides M; Webster AR; Moore AT; Hammerschmidt M; Nürnberg P; Yu-Wai-Man P; Votruba M Ann Neurol; 2019 Sep; 86(3):368-383. PubMed ID: 31298765 [TBL] [Abstract][Full Text] [Related]
5. Maternal CHD7 gonosomal mosaicism in a fetus with CHARGE syndrome. Bai T; Shen Y; Yang Y; Dai S; Liu H Am J Med Genet A; 2024 Apr; 194(4):e63491. PubMed ID: 38057991 [TBL] [Abstract][Full Text] [Related]
6. SSBP1-Disease Update: Expanding the Genetic and Clinical Spectrum, Reporting Variable Penetrance and Confirming Recessive Inheritance. Jurkute N; D'Esposito F; Robson AG; Pitceathly RDS; Cordeiro F; Raymond FL; Moore AT; Michaelides M; Yu-Wai-Man P; Webster AR; Arno G; Invest Ophthalmol Vis Sci; 2021 Dec; 62(15):12. PubMed ID: 34905022 [TBL] [Abstract][Full Text] [Related]
7. SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder. Del Dotto V; Ullah F; Di Meo I; Magini P; Gusic M; Maresca A; Caporali L; Palombo F; Tagliavini F; Baugh EH; Macao B; Szilagyi Z; Peron C; Gustafson MA; Khan K; La Morgia C; Barboni P; Carbonelli M; Valentino ML; Liguori R; Shashi V; Sullivan J; Nagaraj S; El-Dairi M; Iannaccone A; Cutcutache I; Bertini E; Carrozzo R; Emma F; Diomedi-Camassei F; Zanna C; Armstrong M; Page M; Stong N; Boesch S; Kopajtich R; Wortmann S; Sperl W; Davis EE; Copeland WC; Seri M; Falkenberg M; Prokisch H; Katsanis N; Tiranti V; Pippucci T; Carelli V J Clin Invest; 2020 Jan; 130(1):108-125. PubMed ID: 31550240 [TBL] [Abstract][Full Text] [Related]
8. SSBP1 faux pas in mitonuclear tango causes optic neuropathy. Zelinger L; Swaroop A J Clin Invest; 2020 Jan; 130(1):62-64. PubMed ID: 31738184 [TBL] [Abstract][Full Text] [Related]
9. Uncovering Low-Level Maternal Gonosomal Mosaicism in X-Linked Agammaglobulinemia: Implications for Genetic Counseling. Rivière JG; Franco-Jarava C; Martínez-Gallo M; Aguiló-Cucurull A; Blasco-Pérez L; Paramonov I; Antolín M; Martín-Nalda A; Soler-Palacín P; Colobran R Front Immunol; 2020; 11():46. PubMed ID: 32117230 [TBL] [Abstract][Full Text] [Related]
10. Detection of gonosomal mosaicism by ultra-deep sequencing and droplet digital PCR in patients with Emery-Dreifuss muscular dystrophy. Xie Y; Luo J; Zhong J; Liu X; Tang J; Lan D Mol Genet Genomic Med; 2023 Jun; 11(6):e2161. PubMed ID: 36897110 [TBL] [Abstract][Full Text] [Related]
11. De Novo Development of mtDNA Deletion Due to Decreased POLG and SSBP1 Expression in Humans. Lee Y; Kim T; Lee M; So S; Karagozlu MZ; Seo GH; Choi IH; Lee PCW; Kim CJ; Kang E; Lee BH Genes (Basel); 2021 Feb; 12(2):. PubMed ID: 33671400 [TBL] [Abstract][Full Text] [Related]
12. Somatic mosaicism detected by genome-wide sequencing in 500 parent-child trios with suspected genetic disease: clinical and genetic counseling implications. Cook CB; Armstrong L; Boerkoel CF; Clarke LA; du Souich C; Demos MK; Gibson WT; Gill H; Lopez E; Patel MS; Selby K; Abu-Sharar Z; ; Elliott AM; Friedman JM Cold Spring Harb Mol Case Stud; 2021 Dec; 7(6):. PubMed ID: 34697084 [TBL] [Abstract][Full Text] [Related]
13. Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy. Piro-Mégy C; Sarzi E; Tarrés-Solé A; Péquignot M; Hensen F; Quilès M; Manes G; Chakraborty A; Sénéchal A; Bocquet B; Cazevieille C; Roubertie A; Müller A; Charif M; Goudenège D; Lenaers G; Wilhelm H; Kellner U; Weisschuh N; Wissinger B; Zanlonghi X; Hamel C; Spelbrink JN; Sola M; Delettre C J Clin Invest; 2020 Jan; 130(1):143-156. PubMed ID: 31550237 [TBL] [Abstract][Full Text] [Related]
17. [Genetic analysis of a child with Pitt-Hopkins syndrome due to a novel variant of TCF4 gene derived from low percentage maternal mosaicism]. Tang J; Ling J; Zhang C; Hao S; Ma J; Li J; Zhao L; Wang Y; Hui L Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Jun; 40(6):680-685. PubMed ID: 37212002 [TBL] [Abstract][Full Text] [Related]
18. Photoreceptor Manifestations of Primary Mitochondrial Optic Nerve Disorders. Chang YH; Kang EY; Liu PK; Levi SR; Wang HH; Tseng YJ; Seo GH; Lee H; Yeh LK; Chen KJ; Wu WC; Lai CC; Liu L; Wang NK Invest Ophthalmol Vis Sci; 2022 May; 63(5):5. PubMed ID: 35506936 [TBL] [Abstract][Full Text] [Related]
19. Revealing parental mosaicism: the hidden answer to the recurrence of apparent de novo variants. Lee M; Lui ACY; Chan JCK; Doong PHL; Kwong AKY; Mak CCY; Li RHW; Kan ASY; Chung BHY Hum Genomics; 2023 Oct; 17(1):91. PubMed ID: 37798624 [TBL] [Abstract][Full Text] [Related]
20. Identification of of a PAX2 mutation from maternal mosaicism causes recurrent renal disorder in siblings. Liu B; Chen M; Yang Y; Huang Y; Qian Y; Dong M Clin Chim Acta; 2022 Jan; 525():23-28. PubMed ID: 34906559 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]