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Items: 12

1.

VACTERL with hydrocephalus: one end of the Fanconi anemia spectrum of anomalies?

Porteous ME, Cross I, Burn J.

Am J Med Genet. 1992 Aug 1;43(6):1032-4.

PMID:
1415330
2.

Should chromosome breakage studies be performed in patients with VACTERL association?

Faivre L, Portnoï MF, Pals G, Stoppa-Lyonnet D, Le Merrer M, Thauvin-Robinet C, Huet F, Mathew CG, Joenje H, Verloes A, Baumann C.

Am J Med Genet A. 2005 Aug 15;137(1):55-8. Review.

PMID:
16015582
3.

Fanconi anemia, dyskeratosis congenita, and WT syndrome.

Shahidi NT.

Am J Med Genet Suppl. 1987;3:263-78. Review.

PMID:
2453204
4.

Fanconi anemia: a pleotropic mutation with multiple cellular and developmental abnormalities.

Chaganti RS, Houldsworth J.

Ann Genet. 1991;34(3-4):206-11. Review.

PMID:
1809228
5.

Clonal chromosome abnormalities in Fanconi anemia.

Berger R, Jonveaux P.

Hematol Cell Ther. 1996 Aug;38(4):291-6. Review.

PMID:
8891720
6.

Medulloblastoma as a first presentation of fanconi anemia.

Tischkowitz MD, Chisholm J, Gaze M, Michalski A, Rosser EM.

J Pediatr Hematol Oncol. 2004 Jan;26(1):52-5. Review.

PMID:
14707715
7.

Fanconi anemia with concurrent thumb polydactyly and dorsal dimelia: a case report with discussion of embryology.

Al-Qattan MM.

Ann Plast Surg. 2013 Jan;70(1):116-8. doi: 10.1097/SAP.0b013e31822f9960. Review.

PMID:
21862914
8.

Fanconi's anaemia and its variability.

Alter BP.

Br J Haematol. 1993 Sep;85(1):9-14. Review. No abstract available.

PMID:
8251414
9.

The molecular and cellular biology of Fanconi anemia.

Garcia-Higuera I, Kuang Y, D'Andrea AD.

Curr Opin Hematol. 1999 Mar;6(2):83-8. Review.

PMID:
10088637
10.

Oculoauriculovertebral spectrum and cerebral anomalies.

Schrander-Stumpel CT, de Die-Smulders CE, Hennekam RC, Fryns JP, Bouckaert PX, Brouwer OF, da Costa JJ, Lommen EJ, Maaswinkel-Mooy PD.

J Med Genet. 1992 May;29(5):326-31. Review.

11.

FANCONI ANEMIA PRESENTING AS BILATERAL DIFFUSE RETINAL OCCLUSIVE VASCULOPATHY.

Denny M, Haug SJ, Cunningham ET Jr, Jumper JM.

Retin Cases Brief Rep. 2016 Spring;10(2):171-4. doi: 10.1097/ICB.0000000000000219. Review.

PMID:
26579591
12.

Arms and the man or hands and the child: congenital anomalies and hematologic syndromes.

Alter BP.

J Pediatr Hematol Oncol. 1997 Jul-Aug;19(4):287-91. Review. No abstract available.

PMID:
9256825

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