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Items: 1 to 20 of 157

1.

Bladder carcinoma in Costello syndrome: report on a patient born to consanguineous parents and review.

Franceschini P, Licata D, Di Cara G, Guala A, Bianchi M, Ingrosso G, Franceschini D.

Am J Med Genet. 1999 Sep 10;86(2):174-9. Review.

PMID:
10449656
2.

Second case of bladder carcinoma in a patient with Costello syndrome.

Gripp KW, Scott CI Jr, Nicholson L, Figueroa TE.

Am J Med Genet. 2000 Jan 31;90(3):256-9. No abstract available.

PMID:
10678668
3.

Clinical and genetic heterogeneity of Seckel syndrome.

Faivre L, Le Merrer M, Lyonnet S, Plauchu H, Dagoneau N, Campos-Xavier AB, Attia-Sobol J, Verloes A, Munnich A, Cormier-Daire V.

Am J Med Genet. 2002 Nov 1;112(4):379-83.

PMID:
12376940
4.

Premature chromosome condensation in humans associated with microcephaly and mental retardation: a novel autosomal recessive condition.

Neitzel H, Neumann LM, Schindler D, Wirges A, Tönnies H, Trimborn M, Krebsova A, Richter R, Sperling K.

Am J Hum Genet. 2002 Apr;70(4):1015-22. Epub 2002 Feb 20.

5.

Report on two patients with Costello syndrome and sialuria.

Di Rocco M, Gatti R, Gandullia P, Barabino A, Picco P, Borrone C.

Am J Med Genet. 1993 Nov 15;47(7):1135-40.

PMID:
8291534
6.

Costello syndrome: report of an 8-month-old marasmic boy.

Popa M, Ioan DM, Fryns JP.

Genet Couns. 1996;7(1):27-30.

PMID:
8652085
7.

Tay or IBIDS syndrome. A case with growth and mental retardation, congenital ichthyosis and brittle hair.

Blomquist HK, Bäck O, Fagerlund M, Holmgren G, Stecksén-Blicks C.

Acta Paediatr Scand. 1991 Dec;80(12):1241-5. Review.

PMID:
1785299
8.

Bladder papilloma in a child. Case report.

Refsum S Jr, Refsum SB.

Scand J Urol Nephrol. 1975;9(3):285-8.

PMID:
1209187
9.

Apparent Malpuech syndrome: report on three Brazilian patients with additional signs.

Guion-Almeida ML.

Am J Med Genet. 1995 Jul 31;58(1):13-7.

PMID:
7573149
10.

The adult phenotype in Costello syndrome.

White SM, Graham JM Jr, Kerr B, Gripp K, Weksberg R, Cytrynbaum C, Reeder JL, Stewart FJ, Edwards M, Wilson M, Bankier A.

Am J Med Genet A. 2005 Jul 15;136(2):128-35. Erratum in: Am J Med Genet A. 2005 Nov 15;139(1):55.

PMID:
15940703
11.

Costello syndrome: phenotype, natural history, differential diagnosis, and possible cause.

Johnson JP, Golabi M, Norton ME, Rosenblatt RM, Feldman GM, Yang SP, Hall BD, Fries MH, Carey JC.

J Pediatr. 1998 Sep;133(3):441-8. Review.

PMID:
9738731
13.

Costello syndrome: two cases with embryonal rhabdomyosarcoma.

Kerr B, Eden OB, Dandamudi R, Shannon N, Quarrell O, Emmerson A, Ladusans E, Gerrard M, Donnai D.

J Med Genet. 1998 Dec;35(12):1036-9.

14.

Nevo syndrome.

Hilderink BG, Brunner HG.

Clin Dysmorphol. 1995 Oct;4(4):319-23.

PMID:
8574422
15.

Consanguinity and mental retardation.

Madhavan T, Narayan J.

J Ment Defic Res. 1991 Apr;35 ( Pt 2):133-9.

PMID:
2072392
16.

Genetics of the Costello syndrome.

Lurie IW.

Am J Med Genet. 1994 Sep 1;52(3):358-9. Review.

PMID:
7528974
17.

Long-term follow-up of three individuals with Kabuki syndrome.

Shalev SA, Clarke LA, Koehn D, Langlois S, Zackai EH, Hall JG, McDonald McGinn DM.

Am J Med Genet A. 2004 Mar 1;125A(2):191-200.

PMID:
14981723
18.

Ichthyosiform eruption in a patient with Dubowitz syndrome.

Kato T, Komatsu H, Sakakibara A, Tagami H.

Pediatr Dermatol. 1995 Jun;12(2):130-3.

PMID:
7659638
19.
20.

Filippi syndrome: report of three additional cases.

Williams MS, Williams JL, Wargowski DS, Pauli RM, Pletcher BA.

Am J Med Genet. 1999 Nov 19;87(2):128-33. Review.

PMID:
10533026

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