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Items: 20

1.

The Cohen syndrome in Israel.

Sack J, Friedman E.

Isr J Med Sci. 1986 Nov;22(11):766-70.

PMID:
2432032
2.

Clinical variability of genetic isolates of Cohen syndrome.

Douzgou S, Petersen MB.

Clin Genet. 2011 Jun;79(6):501-6. doi: 10.1111/j.1399-0004.2011.01669.x. Epub 2011 Apr 7. Review.

PMID:
21418059
3.

The Cohen syndrome: does mottled retina separate a Finnish and a Jewish type?

Kondo I, Nagataki S, Miyagi N.

Am J Med Genet. 1990 Sep;37(1):109-13. Review.

PMID:
2240027
4.

Floating-Harbor syndrome in a Kuwaiti patient: a case report and literature review.

Bastaki L, El-Nabi MM, Azab AS, Gouda SA, Al-Wadaani AM, Naguib KK.

East Mediterr Health J. 2007 Jul-Aug;13(4):975-9. Review. No abstract available.

PMID:
17955782
5.

The Costello syndrome: report of a case and review of the literature.

Kondo I, Tamanaha K, Ashimine K.

Jpn J Hum Genet. 1993 Dec;38(4):433-6. Review.

PMID:
7514457
6.

Genetics of the Costello syndrome.

Lurie IW.

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

PMID:
7528974
7.

The Peters'-Plus syndrome: description of 16 patients and review of the literature.

Hennekam RC, Van Schooneveld MJ, Ardinger HH, Van Den Boogaard MJ, Friedburg D, Rudnik-Schoneborn S, Seguin JH, Weatherstone KB, Wittebol-Post D, Meinecke P.

Clin Dysmorphol. 1993 Oct;2(4):283-300. Review.

PMID:
7508316
8.

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
9.

Filippi syndrome: a new case with skeletal abnormalities.

Héron D, Billette de Villemeur T, Munnich A, Lyonnet S.

J Med Genet. 1995 Aug;32(8):659-61. Review.

10.

Coffin-Siris syndrome: review and presentation of new cases from a questionnaire study.

Fleck BJ, Pandya A, Vanner L, Kerkering K, Bodurtha J.

Am J Med Genet. 2001 Feb 15;99(1):1-7. Review.

PMID:
11170086
11.

Filippi syndrome: further clinical characterization.

Battaglia A, Filippi T, Pusceddu S, Williams CA.

Am J Med Genet A. 2008 Jul 15;146A(14):1848-52. doi: 10.1002/ajmg.a.32400. Review.

PMID:
18553552
12.

Kenny-Caffey syndrome: an Arab variant?

Sabry MA, Farag TI, Shaltout AA, Zaki M, Al-Mazidi Z, Abulhassan SJ, Al-Torki N, Quishawi A, Al Awadi SA.

Clin Genet. 1999 Jan;55(1):44-9. Review.

PMID:
10066031
13.

KBG syndrome.

Brancati F, Sarkozy A, Dallapiccola B.

Orphanet J Rare Dis. 2006 Dec 12;1:50. Review.

14.

9q34.3 deletion syndrome in three unrelated children.

Iwakoshi M, Okamoto N, Harada N, Nakamura T, Yamamori S, Fujita H, Niikawa N, Matsumoto N.

Am J Med Genet A. 2004 Apr 30;126A(3):278-83. Review.

PMID:
15054842
15.

Cohen syndrome: essential features, natural history, and heterogeneity.

Kivitie-Kallio S, Norio R.

Am J Med Genet. 2001 Aug 1;102(2):125-35. Review.

PMID:
11477603
16.

Marden-Walker phenotype: spectrum of variability in three infants.

Ramer JC, Frankel CA, Ladda RL.

Am J Med Genet. 1993 Feb 1;45(3):285-91. Review.

PMID:
7679543
17.

Kabuki syndrome: a review.

Adam MP, Hudgins L.

Clin Genet. 2005 Mar;67(3):209-19. Review.

PMID:
15691356
18.

Kabuki make-up (Niikawa-Kuroki) syndrome in five Spanish children.

Galán-Gómez E, Cardesa-García JJ, Campo-Sampedro FM, Salamanca-Maesso C, Martínez-Frías ML, Frías JL.

Am J Med Genet. 1995 Nov 20;59(3):276-82. Review.

PMID:
8599349
19.

[Cohen syndrome].

Kayashima T, Niikawa N.

Ryoikibetsu Shokogun Shirizu. 2001;(36):477-8. Review. Japanese. No abstract available.

PMID:
11596442
20.

Dubowitz syndrome: possible evidence for a clinical subtype.

Ilyina HG, Lurie IW.

Am J Med Genet. 1990 Apr;35(4):561-5. Review.

PMID:
2185633

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