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Results: 1 to 20 of 24

1.

A t(4;6)(q12;p23) translocation disrupts a membrane-associated O-acetyl transferase gene (MBOAT1) in a patient with a novel brachydactyly-syndactyly syndrome.

Dauwerse JG, de Vries BB, Wouters CH, Bakker E, Rappold G, Mortier GR, Breuning MH, Peters DJ.

Eur J Hum Genet. 2007 Jul;15(7):743-51. Epub 2007 Apr 18.

PMID:
17440500
[PubMed - indexed for MEDLINE]
Free Article
2.

Prenatal diagnosis of trisomy 4p: a new locus for holoprosencephaly?

Karmous-Benailly H, Tabet AC, Thaly A, Dupuy O, Huten Y, Luton D, Baumann C, Delezoide AL.

Prenat Diagn. 2005 Mar;25(3):193-7.

PMID:
15791668
[PubMed - indexed for MEDLINE]
3.

A new patient with pure trisomy 4p resulting from isochromosome formation and whole arm translocation.

Zahed L, Oreibi G, El-Amine H, Obeid M, Bitar FF.

Am J Med Genet A. 2004 Jul 1;128A(1):60-2.

PMID:
15211659
[PubMed - indexed for MEDLINE]
4.

Molecular cytogenetic analysis of complex chromosomal rearrangements in patients with mental retardation and congenital malformations: delineation of 7q21.11 breakpoints.

Vermeulen S, Menten B, Van Roy N, Van Limbergen H, De Paepe A, Mortier G, Speleman F.

Am J Med Genet A. 2004 Jan 1;124A(1):10-8.

PMID:
14679581
[PubMed - indexed for MEDLINE]
5.

High resolution comparative genomic hybridisation in clinical cytogenetics.

Kirchhoff M, Rose H, Lundsteen C.

J Med Genet. 2001 Nov;38(11):740-4.

PMID:
11694545
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Trisomy 4 pter-q12 and monosomy of chromosome 13 pter-q12 in a male with deficiency of all blood lymphocyte populations.

Velagaleti GV, Lockhart LH, Schmalstieg FC, Goldman AS.

Am J Med Genet. 2001 Aug 1;102(2):139-45.

PMID:
11477605
[PubMed - indexed for MEDLINE]
7.

Partial duplication of 4q12q13 leads to a mild phenotype.

Shashi V, Berry MN, Santos C, Pettenati MJ.

Am J Med Genet. 1999 Sep 3;86(1):51-3.

PMID:
10440828
[PubMed - indexed for MEDLINE]
8.

Interstitial deletion of chromosome 4, del(4)(q12q21.1), in a mentally retarded boy with a piebald trait, due to maternal insertion, ins(8;4).

Fujimoto A, Reddy KS, Spinks R.

Am J Med Genet. 1998 Jan 6;75(1):78-81. Review.

PMID:
9450862
[PubMed - indexed for MEDLINE]
9.

Interstitial deletion of bands 4q12-->q13.1: case report and review of proximal 4q deletions.

Slavotinek A, Kingston H.

J Med Genet. 1997 Oct;34(10):862-5. Review.

PMID:
9350824
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Interstitial deletion, del(4)(q12q21.1), owing to de novo unbalanced translocation in a 2 year old girl: further evidence that the piebald trait maps to proximal 4q12.

Schinzel A, Braegger CP, Brecevic L, Dutly F, Binkert F.

J Med Genet. 1997 Aug;34(8):692-5.

PMID:
9279767
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Piebaldism in a mentally retarded girl with rare deletion of the long arm of chromosome 4.

Sijmons RH, Kristoffersson U, Tuerlings JH, Ljung R, Dijkhuis-Stoffelsma R, Breed AS.

Pediatr Dermatol. 1993 Sep;10(3):235-9.

PMID:
8415299
[PubMed - indexed for MEDLINE]
12.

The child with congenital anomalies and interstitial deletion of the long arm of chromosome 4.

Lech H, Kubalska J, Wisńiewski L.

Klin Padiatr. 1982 Mar;194(2):117-9. No abstract available.

PMID:
7098371
[PubMed - indexed for MEDLINE]
13.

[Monosomy/trisomy 4q12 to q13 mosaicism in a retarded and dysmorphic girl].

Pescia G, Tonella A, Jotterand-Bellomo M.

Ann Genet. 1982;25(2):110-2. French. No abstract available.

PMID:
6984625
[PubMed - indexed for MEDLINE]
14.

Dominant piebald trait in a retarded child with a reciprocal translocation and small intercalary deletion.

Funderburk SJ, Crandall BF.

Am J Hum Genet. 1974 Nov;26(6):715-22. No abstract available.

PMID:
4140688
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

A computer model for the study of segregation in reciprocal translocation carriers: application to 20 new cases.

De Arce MA, Grace PM, McManus S.

Am J Med Genet. 1986 Jul;24(3):519-25.

PMID:
3755291
[PubMed - indexed for MEDLINE]
16.

Tentative assignment of piebald trait gene to chromosome band 4q12.

Hoo JJ, Haslam RH, van Orman C.

Hum Genet. 1986 Jul;73(3):230-1.

PMID:
3733079
[PubMed - indexed for MEDLINE]
17.

A patient with an interstitial deletion of the proximal portion of the long arm of chromosome 4.

Beall MH, Falk RE, Ying KL.

Am J Med Genet. 1988 Nov;31(3):553-7. Review.

PMID:
3067576
[PubMed - indexed for MEDLINE]
18.
19.

Trisomy 4q with morning glory disc anomaly.

Nucci P, Mets MB, Gabianelli EB.

Ophthalmic Paediatr Genet. 1990 Jun;11(2):143-5.

PMID:
2377355
[PubMed - indexed for MEDLINE]
20.

Interstitial deletion of chromosome 4, del(4)(q12q21.1), in a child with multiple congenital abnormalities.

Curtis MA, Quarrell OW, Cobon AM, Cummins M.

J Med Genet. 1990 Jan;27(1):64-5. No abstract available.

PMID:
2308158
[PubMed - indexed for MEDLINE]
Free PMC Article

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