217 related articles for article (PubMed ID: 17632782)
1. Mosaic variegated aneuploidy without microcephaly: implications for cytogenetic diagnosis.
Micale MA; Schran D; Emch S; Kurczynski TW; Rahman N; Van Dyke DL
Am J Med Genet A; 2007 Aug; 143A(16):1890-3. PubMed ID: 17632782
[TBL] [Abstract][Full Text] [Related]
2. Microcephaly is not mandatory for the diagnosis of mosaic variegated aneuploidy syndrome.
Callier P; Faivre L; Cusin V; Marle N; Thauvin-Robinet C; Sandre D; Rousseau T; Sagot P; Lacombe E; Faber V; Mugneret F
Am J Med Genet A; 2005 Aug; 137(2):204-7. PubMed ID: 16059936
[TBL] [Abstract][Full Text] [Related]
3. Clinical and genetic heterogeneity in patients with mosaic variegated aneuploidy: delineation of clinical subtypes.
García-Castillo H; Vásquez-Velásquez AI; Rivera H; Barros-Núñez P
Am J Med Genet A; 2008 Jul; 146A(13):1687-95. PubMed ID: 18548531
[TBL] [Abstract][Full Text] [Related]
4. A case report of a fetus with mosaic autosomal variegated aneuploidies and literature review.
Cho CH; Oh MJ; Lim CS; Lee CK; Cho Y; Yoon SY
Ann Clin Lab Sci; 2015; 45(1):106-9. PubMed ID: 25696020
[TBL] [Abstract][Full Text] [Related]
5. Mosaic variegated aneuploidy with microcephaly: a new human mitotic mutant?
Warburton D; Anyane-Yeboa K; Taterka P; Yu CY; Olsen D
Ann Genet; 1991; 34(3-4):287-92. PubMed ID: 1809239
[TBL] [Abstract][Full Text] [Related]
6. Optic atrophy, microcephaly, mental retardation and mosaic variegated aneuploidy: a human mitotic mutation.
Bitoun P; Martin-Pont B; Tamboise E; Gaudelus J
Ann Genet; 1994; 37(2):75-7. PubMed ID: 7985982
[TBL] [Abstract][Full Text] [Related]
7. Syndrome of microcephaly, Dandy-Walker malformation, and Wilms tumor caused by mosaic variegated aneuploidy with premature centromere division (PCD): report of a new case and review of the literature.
Kawame H; Sugio Y; Fuyama Y; Hayashi Y; Suzuki H; Kurosawa K; Maekawa K
J Hum Genet; 1999; 44(4):219-24. PubMed ID: 10429359
[TBL] [Abstract][Full Text] [Related]
8. Pathogenic correlation between mosaic variegated aneuploidy 1 (MVA1) and a novel BUB1B variant: a reappraisal of a severe syndrome.
Pavone P; Pappalardo XG; Mustafa N; Falsaperla R; Marino SD; Corsello G; Bianca S; Parano E; Ruggieri M
Neurol Sci; 2022 Nov; 43(11):6529-6538. PubMed ID: 35804254
[TBL] [Abstract][Full Text] [Related]
9. Smallest critical region for microcephaly in a patient with mosaic ring chromosome 13.
Su PH; Chen CP; Su YN; Chen SJ; Lin LL; Chen JY
Genet Mol Res; 2013 Apr; 12(2):1311-7. PubMed ID: 23661454
[TBL] [Abstract][Full Text] [Related]
10. High risk of malignancy in mosaic variegated aneuploidy syndrome.
Jacquemont S; Bocéno M; Rival JM; Méchinaud F; David A
Am J Med Genet; 2002 Apr; 109(1):17-21; discussion 16. PubMed ID: 11932988
[TBL] [Abstract][Full Text] [Related]
11. Skin pigment anomalies and mosaicism for a double autosomal trisomy (48,XX,+18,+20).
Devriendt K; Matthijs G; Meireleire J; Roelen L; van Buggenhout G; Fryns JP
Genet Couns; 1998; 9(4):283-6. PubMed ID: 9894166
[TBL] [Abstract][Full Text] [Related]
12. Monoallelic BUB1B mutations and defective mitotic-spindle checkpoint in seven families with premature chromatid separation (PCS) syndrome.
Matsuura S; Matsumoto Y; Morishima K; Izumi H; Matsumoto H; Ito E; Tsutsui K; Kobayashi J; Tauchi H; Kajiwara Y; Hama S; Kurisu K; Tahara H; Oshimura M; Komatsu K; Ikeuchi T; Kajii T
Am J Med Genet A; 2006 Feb; 140(4):358-67. PubMed ID: 16411201
[TBL] [Abstract][Full Text] [Related]
13. A case with mosaic partial duplication of 1q: prenatal and postmortem clinical and cytogenetic evaluations.
Karaoguz MY; Biri A; Pala E; Kan D; Poyraz A; Kurdoglu M; Percin EF
Genet Couns; 2006; 17(2):197-204. PubMed ID: 16970038
[TBL] [Abstract][Full Text] [Related]
14. Prenatal diagnosis, fetal pathology, and cytogenetic analysis of mosaic trisomy 14.
Cheung SW; Kolacki PL; Watson MS; Crane JP
Prenat Diagn; 1988 Nov; 8(9):677-82. PubMed ID: 3211857
[TBL] [Abstract][Full Text] [Related]
15. Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B.
Hanks S; Coleman K; Reid S; Plaja A; Firth H; Fitzpatrick D; Kidd A; Méhes K; Nash R; Robin N; Shannon N; Tolmie J; Swansbury J; Irrthum A; Douglas J; Rahman N
Nat Genet; 2004 Nov; 36(11):1159-61. PubMed ID: 15475955
[TBL] [Abstract][Full Text] [Related]
16. Confirmation of the prenatal mosaic trisomy 2 via fetal USG and cytogenetic analyses.
Tuğ E; Karcaaltincaba D; Yirmibeş Karaoğuz M; Saat H; Özek A
J Matern Fetal Neonatal Med; 2017 Jul; 30(13):1579-1583. PubMed ID: 27431726
[TBL] [Abstract][Full Text] [Related]
17. Double autosomal/gonosomal mosaic aneuploidy: study of nondisjunction in two cases with trisomy of chromosome 8.
DeBrasi D; Genardi M; D'Agostino A; Calvieri F; Tozzi C; Varrone S; Neri G
Hum Genet; 1995 May; 95(5):519-25. PubMed ID: 7759072
[TBL] [Abstract][Full Text] [Related]
18. Prenatal detection of double aneuploidy trisomy 10/monosomy X in a liveborn twin with exclusively monosomy X in blood.
Mielke G; Enders H; Goelz R; Klein-Vogler U; Ulmer R; Trautmann U
Clin Genet; 1997 Apr; 51(4):275-7. PubMed ID: 9184253
[TBL] [Abstract][Full Text] [Related]
19. An unexpected finding in a child with neurological problems: mosaic ring chromosome 18.
Koç A; Kan D; Karaer K; Ergün MA; Karaoğuz MY; Gücüyener K; Hinreiner S; Liehr T; Perçin EF
Eur J Pediatr; 2008 Jun; 167(6):655-9. PubMed ID: 17668239
[TBL] [Abstract][Full Text] [Related]
20. Prenatal diagnosis of premature chromatid separation/mosaic variegated aneuploidy (PCS/MVA) syndrome.
Yamaguchi T; Yamaguchi M; Akeno K; Fujisaki M; Sumiyoshi K; Ohashi M; Sameshima H; Ozaki M; Kato M; Kato T; Hosoba E; Kurahashi H
J Obstet Gynaecol Res; 2018 Jul; 44(7):1313-1317. PubMed ID: 29673003
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]