245 related articles for article (PubMed ID: 1956066)
1. A de novo translocation t(3;17)(q26.3;q23.1) in a child with Cornelia de Lange syndrome.
Ireland M; English C; Cross I; Houlsby WT; Burn J
J Med Genet; 1991 Sep; 28(9):639-40. PubMed ID: 1956066
[TBL] [Abstract][Full Text] [Related]
2. A de novo t (X;8)(p11.2;q24.3) demonstrating Cornelia de Lange syndrome phenotype.
Egemen A; Ulger Z; Ozkinay F; Gulen F; Cogulu O
Genet Couns; 2005; 16(1):27-30. PubMed ID: 15844775
[TBL] [Abstract][Full Text] [Related]
3. Distal monosomy of the long arm of chromosome 6 (6q25----6qter) inherited by maternal translocation t(6q;17q).
Oliveira-Duarte MH; Martelli-Soares LR; Sarquis-Cintra T; Machado ML; Lison MP
Ann Genet; 1990; 33(1):56-9. PubMed ID: 2195984
[TBL] [Abstract][Full Text] [Related]
4. Exclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange syndrome.
Krantz ID; Tonkin E; Smith M; Devoto M; Bottani A; Simpson C; Hofreiter M; Abraham V; Jukofsky L; Conti BP; Strachan T; Jackson L
Am J Med Genet; 2001 Jun; 101(2):120-9. PubMed ID: 11391654
[TBL] [Abstract][Full Text] [Related]
5. Severe Silver-Russell syndrome and translocation (17;20) (q25;q13).
Ramírez-Dueñas ML; Medina C; Ocampo-Campos R; Rivera H
Clin Genet; 1992 Jan; 41(1):51-3. PubMed ID: 1633648
[TBL] [Abstract][Full Text] [Related]
6. A unique de novo interstitial deletion del(17)(q21.3q23) in a phenotypically abnormal infant.
Park JP; Moeschler JB; Berg SZ; Bauer RM; Wurster-Hill DH
Clin Genet; 1992 Jan; 41(1):54-6. PubMed ID: 1633649
[TBL] [Abstract][Full Text] [Related]
7. Cornelia de Lange syndrome associated with a de-novo novel NIPBL splice-site mutation and a coincidental inherited translocation t(3;5)(p13;q11).
Wierzba J; Kuzniacka A; Ratajska M; Lipska BS; Kardas I; Iliszko M; Limon J
Clin Dysmorphol; 2011 Oct; 20(4):222-224. PubMed ID: 21666440
[No Abstract] [Full Text] [Related]
8. Chromosomes in the Cornelia de Lange syndrome.
Beck B; Mikkelsen M
Hum Genet; 1981; 59(4):271-6. PubMed ID: 7333580
[TBL] [Abstract][Full Text] [Related]
9. Duplication of distal 22q.
Abeliovich D; Maor E; Bashan N; Carmi R
Am J Med Genet; 1989 Mar; 32(3):346-9. PubMed ID: 2729354
[TBL] [Abstract][Full Text] [Related]
10. Trisomy 3q2 and Pierre-Robin sequence in a boy with unbalanced 46,XY, der(10), t(3;10)(q23;q26.3) de novo karyotype.
Kleczkowska A; Fryns JP; Moerman F; Martens M; Eggermont E; Jaeken J; Van den Berghe H
Helv Paediatr Acta; 1988 Nov; 43(3):245-8. PubMed ID: 3220792
[TBL] [Abstract][Full Text] [Related]
11. [Brachmann-Cornelia de Lange syndrome].
Bonioli E; Bellini C; Ruffa G; Camera G; Gemme G
Minerva Pediatr; 1987 Feb; 39(3-4):135-8. PubMed ID: 3587191
[No Abstract] [Full Text] [Related]
12. Cornelia de Lange Syndrome in association with a balanced reciprocal translocation involving chromosomes 3 and 5.
Price N; Bahra M; Griffin D; Hanna G; Stock A
Prenat Diagn; 2005 Jul; 25(7):602-3. PubMed ID: 16032773
[TBL] [Abstract][Full Text] [Related]
13. A giant novel gene undergoing extensive alternative splicing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3.
Tonkin ET; Smith M; Eichhorn P; Jones S; Imamwerdi B; Lindsay S; Jackson M; Wang TJ; Ireland M; Burn J; Krantz ID; Carr P; Strachan T
Hum Genet; 2004 Jul; 115(2):139-48. PubMed ID: 15168106
[TBL] [Abstract][Full Text] [Related]
14. Williams syndrome and chromosome 18.
Menko FH; Stouthart PJ
J Med Genet; 1992 Sep; 29(9):679-80. PubMed ID: 1404306
[No Abstract] [Full Text] [Related]
15. Partial duplication of 3q (q25.1-->q26.1) without the Brachmann-de Lange phenotype.
Lopez-Rangel E; Dill FJ; Hrynchak MA; Van Allen MI
Am J Med Genet; 1993 Nov; 47(7):1068-71. PubMed ID: 8291525
[TBL] [Abstract][Full Text] [Related]
16. Cornelia de Lange syndrome with ring chromosome 3.
Lakshminarayana P; Nallasivam P
J Med Genet; 1990 Jun; 27(6):405-6. PubMed ID: 2359108
[No Abstract] [Full Text] [Related]
17. Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome.
Plesser Duvdevani M; Pettersson M; Eisfeldt J; Avraham O; Dagan J; Frumkin A; Lupski JR; Lindstrand A; Harel T
Am J Med Genet A; 2020 May; 182(5):1143-1151. PubMed ID: 32125084
[TBL] [Abstract][Full Text] [Related]
18. Partial monosomy of 7q32 in a case of de novo rcp(7;15)(q32;q15).
D'Alessandro E; Ligas C; Lo Re ML; Marcanio MP; Gentile T; Del Porto G
J Med Genet; 1994 May; 31(5):413-5. PubMed ID: 8064823
[TBL] [Abstract][Full Text] [Related]
19. The association of chromosome 3 duplication and the Cornelia de Lange syndrome.
Wilson GN; Hieber VC; Schmickel RD
J Pediatr; 1978 Nov; 93(5):783-8. PubMed ID: 712481
[TBL] [Abstract][Full Text] [Related]
20. Partial trisomy 3q causing mild Cornelia de Lange phenotype.
Holder SE; Grimsley LM; Palmer RW; Butler LJ; Baraitser M
J Med Genet; 1994 Feb; 31(2):150-2. PubMed ID: 8182724
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
