331 related articles for article (PubMed ID: 10429359)
21. Dandy-Walker variant malformation, spastic paraplegia, and mental retardation in two sibs.
Stoll C; Huber C; Alembik Y; Terrade E; Maitrot D
Am J Med Genet; 1990 Sep; 37(1):124-7. PubMed ID: 2240029
[TBL] [Abstract][Full Text] [Related]
22. 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]
23. Follow-up of two adult brothers with homozygous CEP57 pathogenic variants expands the phenotype of Mosaic Variegated Aneuploidy Syndrome.
Dery T; Chatron N; Alqahtani A; Pugeat M; Till M; Edery P; Sanlaville D; Schluth-Bolard C; Nicolino M; Lesca G; Putoux A
Eur J Med Genet; 2020 Nov; 63(11):104044. PubMed ID: 32861809
[TBL] [Abstract][Full Text] [Related]
24. 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]
25. Tetrasomy 15q25.3 --> qter resulting from an analphoid supernumerary marker chromosome in a patient with multiple anomalies and bilateral Wilms tumors.
Hu J; McPherson E; Surti U; Hasegawa SL; Gunawardena S; Gollin SM
Am J Med Genet; 2002 Nov; 113(1):82-8. PubMed ID: 12400070
[TBL] [Abstract][Full Text] [Related]
26. Mosaic variegated aneuploidy with growth hormone deficiency and congenital heart defects.
Lane AH; Aijaz N; Galvin-Parton P; Lanman J; Mangano R; Wilson TA
Am J Med Genet; 2002 Jul; 110(3):273-7. PubMed ID: 12116237
[TBL] [Abstract][Full Text] [Related]
27. Prenatal diagnosis of tetrasomy 9p in a 19-week-old fetus with Dandy-Walker malformation: a case report.
Deurloo KL; Cobben JM; Heins YM; de Ru M; Wijnaendts LC; van Vugt JM
Prenat Diagn; 2004 Oct; 24(10):796-8. PubMed ID: 15503289
[TBL] [Abstract][Full Text] [Related]
28. 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]
29. Prenatal sonographic diagnosis of Dandy-Walker malformation and type III lissencephaly: A novel association.
Darouich S; Amraoui J; Amraoui N
J Clin Ultrasound; 2020 May; 48(4):235-239. PubMed ID: 31859376
[TBL] [Abstract][Full Text] [Related]
30. Cell cycle and centromere FISH studies in premature centromere division.
Corona-Rivera A; Salamanca-Gomez F; Bobadilla-Morales L; Corona-Rivera JR; Palomino-Cueva C; Garcia-Cobian TA; Corona-Rivera E
BMC Med Genet; 2005 Sep; 6():33. PubMed ID: 16174301
[TBL] [Abstract][Full Text] [Related]
31. Prenatal diagnosis and molecular characterization of a novel locus for Dandy-Walker malformation on chromosome 7p21.3.
Liao C; Fu F; Li R; Yang X; Xu Q; Li DZ
Eur J Med Genet; 2012; 55(8-9):472-5. PubMed ID: 22617776
[TBL] [Abstract][Full Text] [Related]
32. [Newly discovered structural chromosome aberrations in long familial syndromes, associations and sequences. Prader-Willi syndrome, Miller-Dieker syndrome, Giedion-Langer syndrome, Aniridia-Wilms' tumor association, DiGeorge sequence, Wiedemann-Beckwith syndrome].
Schinzel A
Ergeb Inn Med Kinderheilkd; 1988; 57():57-75. PubMed ID: 2850909
[No Abstract] [Full Text] [Related]
33. [Ring chromosome 14. II. A case report of r(14) mosaicism. The r(14) phenotype].
Rethoré MO; Caille B; Huet de Barochez Y; de Blois MC; Ravel A; Lejeune J
Ann Genet; 1984; 27(2):91-5. PubMed ID: 6331796
[TBL] [Abstract][Full Text] [Related]
34. A novel CEP57 variant associated with mosaic variegated aneuploidy syndrome in a Chinese female presenting with short stature, microcephaly, brachydactyly, and small teeth.
Feng B; Chang G; Zhang Q; Li X; Tang Y; Gu S; Wang Y; Wang J; Wang X
Mol Genet Genomic Med; 2022 Jun; 10(6):e1951. PubMed ID: 35434947
[TBL] [Abstract][Full Text] [Related]
35. Bilateral cystic nephroblastomas and multiple malformations with trisomy 8 mosaicism.
Nakamura Y; Nakashima H; Fukuda S; Hashimoto T; Maruyama M
Hum Pathol; 1985 Jul; 16(7):754-6. PubMed ID: 2989151
[TBL] [Abstract][Full Text] [Related]
36. 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]
37. New X-linked mental retardation disorder with Dandy-Walker malformation, basal ganglia disease, and seizures.
Pettigrew AL; Jackson LG; Ledbetter DH
Am J Med Genet; 1991; 38(2-3):200-7. PubMed ID: 2018058
[TBL] [Abstract][Full Text] [Related]
38. [Clinical features and genetic analysis of a child with mosaic variegated aneuploidy syndrome].
He T; Cui D; Huang Y; Luo X; Yang J
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Dec; 35(6):844-847. PubMed ID: 30512160
[TBL] [Abstract][Full Text] [Related]
39. Two cases of ring chromosome 11.
Romain DR; Gebbie OB; Parfitt RG; Columbano-Green LM; Smythe RH; Chapman CJ; Kerr A
J Med Genet; 1983 Oct; 20(5):380-2. PubMed ID: 6315941
[TBL] [Abstract][Full Text] [Related]
40. Prenatal diagnosis of 13q-syndrome in a fetus with Dandy-Walker malformation.
Gul A; Cebeci A; Erol O; Ceylan Y; Basaran S; Yuksel A
Obstet Gynecol; 2005 May; 105(5 Pt 2):1227-9. PubMed ID: 15863591
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
