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Items: 1 to 20 of 24

1.

Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis.

van Bon BW, Koolen DA, Borgatti R, Magee A, Garcia-Minaur S, Rooms L, Reardon W, Zollino M, Bonaglia MC, De Gregori M, Novara F, Grasso R, Ciccone R, van Duyvenvoorde HA, Aalbers AM, Guerrini R, Fazzi E, Nillesen WM, McCullough S, Kant SG, Marcelis CL, Pfundt R, de Leeuw N, Smeets D, Sistermans EA, Wit JM, Hamel BC, Brunner HG, Kooy F, Zuffardi O, de Vries BB.

J Med Genet. 2008 Jun;45(6):346-54. doi: 10.1136/jmg.2007.055830. Epub 2008 Jan 4.

PMID:
18178631
2.

Interstitial 1q43-q43 deletion with left ventricular noncompaction myocardium.

Kanemoto N, Horigome H, Nakayama J, Ichida F, Xing Y, Buonadonna AL, Kanemoto K, Gentile M.

Eur J Med Genet. 2006 May-Jun;49(3):247-53. Epub 2005 Aug 8.

PMID:
16762826
3.

A multiple translocation event in a patient with hexadactyly, facial dysmorphism, mental retardation and behaviour disorder characterised comprehensively by molecular cytogenetics. Case report and review of the literature.

Seidel J, Heller A, Senger G, Starke H, Chudoba I, Kelbova C, Tönnies H, Neitzel H, Haase C, Beensen V, Zintl F, Claussen U, Liehr T.

Eur J Pediatr. 2003 Sep;162(9):582-8. Epub 2003 Jun 19. Review.

PMID:
12819962
4.

Rapid prenatal diagnosis of trisomy 21 in 5049 consecutive uncultured amniotic fluid samples by fluorescence in situ hybridisation (FISH).

Witters I, Devriendt K, Legius E, Matthijs G, Van Schoubroeck D, Van Assche FA, Fryns JP.

Prenat Diagn. 2002 Jan;22(1):29-33.

PMID:
11810646
5.

Multiplex-FISH for pre- and postnatal diagnostic applications.

Uhrig S, Schuffenhauer S, Fauth C, Wirtz A, Daumer-Haas C, Apacik C, Cohen M, Müller-Navia J, Cremer T, Murken J, Speicher MR.

Am J Hum Genet. 1999 Aug;65(2):448-62.

6.

Risk estimates for balanced reciprocal translocation carriers--prenatal diagnosis experience.

Barisić I, Zergollern L, Muzinić D, Hitrec V.

Clin Genet. 1996 Mar;49(3):145-51.

PMID:
8737980
7.
8.

Parental chromosome translocations and fetal loss.

Tsenghi C, Metaxotou C, Kalpini-Mavrou A, Strataki-Benetou M, Matsaniotis N.

Obstet Gynecol. 1981 Oct;58(4):456-8.

PMID:
7279340
9.

New deletion syndrome: 1q43.

Juberg RC, Haney NR, Stallard R.

Am J Hum Genet. 1981 May;33(3):455-63.

10.
11.

[Complexe de novo rearrangement involving 4 chromosomes in a newborn infant].

Martinetti J, Noel B.

Ann Genet. 1973 Dec;16(4):285-8. French. No abstract available.

PMID:
4544095
12.
13.

Partial trisomy 2q+ as a result of a balanced translocation (1;2)(q43;q33).

Barjaktarović N, Joksić G, Kostić V, Popović K.

Hum Genet. 1985;71(3):273. No abstract available.

PMID:
4065900
14.

Partial trisomy 3p syndrome.

Reiss JA, Sheffield LJ, Sutherland GR.

Clin Genet. 1986 Jul;30(1):50-8.

PMID:
3757296
15.

Terminal deletion 1q43 in a newborn with hydrocephalus.

Ribeiro MC, Brunoni D.

Ann Genet. 1987;30(2):126-8.

PMID:
3499845
16.

Dermatoglyphic findings in chromosome 1 long arm deletions.

Reed T, Milatovich A.

Am J Med Genet. 1988 Mar;29(3):685-9. No abstract available.

PMID:
3377014
17.

Terminal deletion of chromosome 1(q43) in a female infant.

Garani GP, Tamisari L, Volpato S, Vigi V.

J Med Genet. 1988 Mar;25(3):211-2. No abstract available.

18.

Chromosome analyses of 2,319 cases in genetic counseling clinic.

Li LY, Xia JH, Dai HP, Xu FM, He XX, Xu J.

Chin Med J (Engl). 1986 Jul;99(7):527-34. No abstract available.

PMID:
3100199
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