Format
Sort by

Send to

Choose Destination

Links from Books

Items: 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.

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
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
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
5.

High resolution comparative genomic hybridisation in clinical cytogenetics.

Kirchhoff M, Rose H, Lundsteen C.

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

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
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
8.
9.
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
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
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
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.

15.
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
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
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
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.

Items per page

Supplemental Content

Support Center