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Quoted phrase not found in phrase index: "Ring chromosome Y"
Page 1
Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol).
Fiot E, Alauze B, Donadille B, Samara-Boustani D, Houang M, De Filippo G, Bachelot A, Delcour C, Beyler C, Bois E, Bourrat E, Bui Quoc E, Bourcigaux N, Chaussain C, Cohen A, Cohen-Solal M, Da Costa S, Dossier C, Ederhy S, Elmaleh M, Iserin L, Lengliné H, Poujol-Robert A, Roulot D, Viala J, Albarel F, Bismuth E, Bernard V, Bouvattier C, Brac A, Bretones P, Chabbert-Buffet N, Chanson P, Coutant R, de Warren M, Demaret B, Duranteau L, Eustache F, Gautheret L, Gelwane G, Gourbesville C, Grynberg M, Gueniche K, Jorgensen C, Kerlan V, Lebrun C, Lefevre C, Lorenzini F, Manouvrier S, Pienkowski C, Reynaud R, Reznik Y, Siffroi JP, Tabet AC, Tauber M, Vautier V, Tauveron I, Wambre S, Zenaty D, Netchine I, Polak M, Touraine P, Carel JC, Christin-Maitre S, Léger J. Fiot E, et al. Orphanet J Rare Dis. 2022 Jul 12;17(Suppl 1):261. doi: 10.1186/s13023-022-02423-5. Orphanet J Rare Dis. 2022. PMID: 35821070 Free PMC article.
Turner syndrome (TS; ORPHA 881) is a rare condition in which all or part of one X chromosome is absent from some or all cells. It affects approximately one in every 1/2500 liveborn girls. ...Karyotypes with an X isochromosome (45,X/46,isoXq or 45,X/46,isoXp), a Y …
Turner syndrome (TS; ORPHA 881) is a rare condition in which all or part of one X chromosome is absent from some or all cells. It aff …
Genetic insights into biological mechanisms governing human ovarian ageing.
Ruth KS, Day FR, Hussain J, Martínez-Marchal A, Aiken CE, Azad A, Thompson DJ, Knoblochova L, Abe H, Tarry-Adkins JL, Gonzalez JM, Fontanillas P, Claringbould A, Bakker OB, Sulem P, Walters RG, Terao C, Turon S, Horikoshi M, Lin K, Onland-Moret NC, Sankar A, Hertz EPT, Timshel PN, Shukla V, Borup R, Olsen KW, Aguilera P, Ferrer-Roda M, Huang Y, Stankovic S, Timmers PRHJ, Ahearn TU, Alizadeh BZ, Naderi E, Andrulis IL, Arnold AM, Aronson KJ, Augustinsson A, Bandinelli S, Barbieri CM, Beaumont RN, Becher H, Beckmann MW, Benonisdottir S, Bergmann S, Bochud M, Boerwinkle E, Bojesen SE, Bolla MK, Boomsma DI, Bowker N, Brody JA, Broer L, Buring JE, Campbell A, Campbell H, Castelao JE, Catamo E, Chanock SJ, Chenevix-Trench G, Ciullo M, Corre T, Couch FJ, Cox A, Crisponi L, Cross SS, Cucca F, Czene K, Smith GD, de Geus EJCN, de Mutsert R, De Vivo I, Demerath EW, Dennis J, Dunning AM, Dwek M, Eriksson M, Esko T, Fasching PA, Faul JD, Ferrucci L, Franceschini N, Frayling TM, Gago-Dominguez M, Mezzavilla M, García-Closas M, Gieger C, Giles GG, Grallert H, Gudbjartsson DF, Gudnason V, Guénel P, Haiman CA, Håkansson N, Hall P, Hayward C, He C, He W, Heiss G, Høffding MK, Hopper JL, Hottenga JJ,… See abstract for full author list ➔ Ruth KS, et al. Nature. 2021 Aug;596(7872):393-397. doi: 10.1038/s41586-021-03779-7. Epub 2021 Aug 4. Nature. 2021. PMID: 34349265 Free PMC article.
Cromosoma 13 en anillo.
Cammarata-Scalisi F, Briceño Y, Cegarra E, Montilla D. Cammarata-Scalisi F, et al. Bol Med Hosp Infant Mex. 2019;76(2):100-103. doi: 10.24875/BMHIM.18000108. Bol Med Hosp Infant Mex. 2019. PMID: 30907385 English.
BACKGROUND: Ring chromosome 13 is an infrequent cytogenetic disorder clinically characterized by growth and psychomotor development retardation, cognitive deficit, microcephaly, facial dysmorphism, genital alterations and thumb hypoplasia. ...
BACKGROUND: Ring chromosome 13 is an infrequent cytogenetic disorder clinically characterized by growth and psychomotor develo …
Parkin and Parkinson's disease.
Mizuno Y, Hattori N, Mori H, Suzuki T, Tanaka K. Mizuno Y, et al. Curr Opin Neurol. 2001 Aug;14(4):477-82. doi: 10.1097/00019052-200108000-00008. Curr Opin Neurol. 2001. PMID: 11470964 Review.
The parkin gene product, Parkin protein, has a unique structure with a ubiquitin-like domain in the amino-terminus and a RING finger motif in the carboxy terminus. The function of Parkin was not known until recently. ...
The parkin gene product, Parkin protein, has a unique structure with a ubiquitin-like domain in the amino-terminus and a RING finger …
Distal Xq duplication and functional Xq disomy.
Sanlaville D, Schluth-Bolard C, Turleau C. Sanlaville D, et al. Orphanet J Rare Dis. 2009 Feb 20;4:4. doi: 10.1186/1750-1172-4-4. Orphanet J Rare Dis. 2009. PMID: 19232094 Free PMC article. Review.
Xq duplications may be caused either by an intrachromosomal duplication or an unbalanced X/Y or X/autosome translocation. In XY males, structural X disomy always results in functional disomy. In females, failure of X chromosome dosage compensation could result from …
Xq duplications may be caused either by an intrachromosomal duplication or an unbalanced X/Y or X/autosome translocation. In XY males …
Ring chromosome 15 - cytogenetics and mapping arrays: a case report and review of the literature.
Paz-Y-Miño C, Guevara-Aguirre J, Paz-Y-Miño A, Velarde F, Armendáriz-Castillo I, Yumiceba V, Hernández JM, García JL, Leone PE. Paz-Y-Miño C, et al. J Med Case Rep. 2018 Nov 16;12(1):340. doi: 10.1186/s13256-018-1879-5. J Med Case Rep. 2018. PMID: 30442194 Free PMC article. Review.
BACKGROUND: Ring chromosome 15 has been associated in previous studies with different clinical characteristic such as cardiac problems, digit and musculoskeletal abnormalities, and mental and motor problems among others. Only 97 clinical cases of ring chro …
BACKGROUND: Ring chromosome 15 has been associated in previous studies with different clinical characteristic such as cardiac …
A rare ring chromosome 21 abnormality is associated with azoospermia in two different phenotypically normal cases.
Berkay EG, Karaman B, Başaran S. Berkay EG, et al. Syst Biol Reprod Med. 2023 Oct;69(5):387-393. doi: 10.1080/19396368.2023.2225682. Epub 2023 Jul 4. Syst Biol Reprod Med. 2023. PMID: 37401907
Their phenotypes and physical and hormonal examinations were both normal. In karyotyping G-banding and NOR staining, a rare ring chromosome 21 abnormality was detected in the cases and no microdeletion in chromosome Y. ...Due to the findings, bioinform …
Their phenotypes and physical and hormonal examinations were both normal. In karyotyping G-banding and NOR staining, a rare ring c …
Phenotype/karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases.
Hsu LY. Hsu LY. Am J Med Genet. 1994 Nov 1;53(2):108-40. doi: 10.1002/ajmg.1320530204. Am J Med Genet. 1994. PMID: 7856637 Review.
This review includes 11 cases of 46,XYp-; 90 cases of 46,XYq- (52 cases non-mosaic; 38 cases 45,X mosaic); 34 cases of 46,X,r(Y) (9 cases non-mosaic and 25 cases 45,X mosaic); 8 cases of 46,X,i(Yp) (4 non-mosaic and 4 mosaic with 45,X); 12 cases of 46,X,i(Yq) (7 non-mosaic …
This review includes 11 cases of 46,XYp-; 90 cases of 46,XYq- (52 cases non-mosaic; 38 cases 45,X mosaic); 34 cases of 46,X,r(Y) (9 c …
Y chromosome sequences in Turner's syndrome: association with virilization and gonadoblastoma.
Mancilla EE, Poggi H, Repetto G, Rumié H, García H, Ugarte F, Hidalgo S, Jara A, Muzzo S, Panteón E, Torrealba I, Foradori A, Cattani A. Mancilla EE, et al. J Pediatr Endocrinol Metab. 2003 Oct-Nov;16(8):1157-63. doi: 10.1515/jpem.2003.16.8.1157. J Pediatr Endocrinol Metab. 2003. PMID: 14594176
By DNA analysis, Y chromosome sequences have been reported in 0-60% of patients. ...The patients with the ring chromosome and 45,X/46,XY karyotype underwent surgery and were found to have a gonadoblastoma and dysgerminoma. ...
By DNA analysis, Y chromosome sequences have been reported in 0-60% of patients. ...The patients with the ring chrom …
Startling mosaicism of the Y-chromosome and tandem duplication of the SRY and DAZ genes in patients with Turner Syndrome.
Premi S, Srivastava J, Panneer G, Ali S. Premi S, et al. PLoS One. 2008;3(11):e3796. doi: 10.1371/journal.pone.0003796. Epub 2008 Nov 24. PLoS One. 2008. PMID: 19030103 Free PMC article.
Presence of the human Y-chromosome in females with Turner Syndrome (TS) enhances the risk of development of gonadoblastoma besides causing several other phenotypic abnormalities. ...Also, no ring, marker or di-centric Y was observed in any of the cases …
Presence of the human Y-chromosome in females with Turner Syndrome (TS) enhances the risk of development of gonadoblastoma bes …
58 results