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22q partial deletion syndrome相关文献:
Adult Phenotype of SYNGAP1-DEE.
Rong M, Benke T, Zulfiqar Ali Q, Aledo-Serrano Á, Bayat A, Rossi A, Devinsky O, Qaiser F, Ali AS, Fasano A, Bassett AS, Andrade DM.
Neurol Genet. 2023 Nov 17;9(6):e200105. doi: 10.1212/NXG.0000000000200105. eCollection 2023 Dec.
PMID:38045990
A patient with de-novo partial deletion of Xp (p11.4-pter) and partial duplication of 22q (q11.2-qter).
Armour CM, McGowan-Jordan J, Lawrence SE, Bouchard A, Basik M, Allanson JE.
Clin Dysmorphol. 2008 Jan;17(1):23-26. doi: 10.1097/MCD.0b013e3282f16991.
PMID:18049076
A binational study assessing risk and resilience factors in 22q11.2 deletion syndrome.
Gur RE, White LK, Shani S, Barzilay R, Moore TM, Emanuel BS, Zackai EH, McDonald-McGinn DM, Matalon N, Weinberger R, Gur RC, Gothelf D.
J Psychiatr Res. 2021 Jun;138:319-325. doi: 10.1016/j.jpsychires.2021.03.058. Epub 2021 Apr 13.
PMID:33894539
Familial DiGeorge syndrome and associated partial monosomy of chromosome 22.
Greenberg F, Crowder WE, Paschall V, Colon-Linares J, Lubianski B, Ledbetter DH.
Hum Genet. 1984;65(4):317-9. doi: 10.1007/BF00291554.
PMID:6693120
Breakpoint delineation in 5p- patients leads to new insights about microcephaly and the typical high-pitched cry.
Chehimi SN, Zanardo ÉA, Ceroni JRM, Nascimento AM, Madia FAR, Dias AT, Filho GMN, Montenegro MM, Damasceno J, Costa TVMM, Gasparini Y, Kim CA, Kulikowski LD.
Mol Genet Genomic Med. 2020 Feb;8(2):e957. doi: 10.1002/mgg3.957. Epub 2019 Sep 30.
PMID:31568707
Digeorge anomaly associated with partial deletion of chromosome 22. Report of a case with X/22 translocation and review of the literature.
Dallapiccola B, Marino B, Giannotti A, Valorani G.
Ann Genet. 1989;32(2):92-6.
PMID:2667458
Does chromosome 22 have anything to do with sex determination: further studies on a 46,XX,22q11.2 del male.
Erickson RP, Skinner S, Jacquet H, Campion D, Buckley PG, Mantripragada KK, Dumanski JP.
Am J Med Genet A. 2003 Nov 15;123A(1):64-7. doi: 10.1002/ajmg.a.20489.
PMID:14556248
Congenital bilateral adductor vocal cord paralysis.
Berkowitz RG.
Ann Otol Rhinol Laryngol. 2003 Sep;112(9 Pt 1):764-7. doi: 10.1177/000348940311200904.
PMID:14535559
Velo-cardio-facial and partial DiGeorge phenotype in a child with interstitial deletion at 10p13--implications for cytogenetics and molecular biology.
Lipson A, Fagan K, Colley A, Colley P, Sholler G, Issacs D, Oates RK.
Am J Med Genet. 1996 Nov 11;65(4):304-8. doi: 10.1002/(SICI)1096-8628(19961111)65:4<304::AID-AJMG11>3.0.CO;2-Y.
PMID:8923940
Novel Unbalanced Translocations Affecting the Long Arms of Chromosomes 10 and 22 Cause Complex Syndromes with Very Severe Neurodevelopmental Delay, Speech Impairment, Autistic Behavior, and Epilepsy.
Coci EG, Auhuber A, Langenbach A, Mrasek K, Riedel J, Leenen A, Lücke T, Liehr T.
Cytogenet Genome Res. 2017;151(4):171-178. doi: 10.1159/000471501. Epub 2017 May 10.
PMID:28486223
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