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Items: 1 to 20 of 37

1.

Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population.

Bugiani M, Gyftodimou Y, Tsimpouka P, Lamantea E, Katzaki E, d'Adamo P, Nakou S, Georgoudi N, Grigoriadou M, Tsina E, Kabolis N, Milani D, Pandelia E, Kokotas H, Gasparini P, Giannoulia-Karantana A, Renieri A, Zeviani M, Petersen MB.

Am J Med Genet A. 2008 Sep 1;146A(17):2221-6. doi: 10.1002/ajmg.a.32239.

PMID:
18655112
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.

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
4.

[Cohen syndrome. A new case and review of the literature].

Calzolari S, Ballardini M, De Marco P.

Minerva Pediatr. 1995 Mar;47(3):83-7. Review. Italian.

PMID:
7791717
5.

The syndrome of Hirschsprung disease, microcephaly, unusual face, and mental retardation.

Halal F, Morel J.

Am J Med Genet. 1990 Sep;37(1):106-8. Review.

PMID:
2240026
6.

An Italian family affected by autosomal dominant microcephaly with chorioretinal degeneration.

Simonell F, Testa F, Nesti A, de Crecchio G, Bifani M, Cavaliere ML, Rinaldi E, Rinaldi MM.

J Pediatr Ophthalmol Strabismus. 2002 Sep-Oct;39(5):288-92. Review.

PMID:
12353901
7.

[Cohen's syndrome: non-causal association with vascular rings].

Pérez-Caballero Macarrón C, Lozano Giménez C, Quintana Castilla A, Aparicio Meix JM.

An Esp Pediatr. 2000 Mar;52(3):289-95. Review. Spanish.

PMID:
11003912
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.

X-linked mental retardation, microcephaly, and growth delay associated with hereditary bullous dystrophy macular type: report of a second family.

Lungarotti MS, Martello C, Barboni G, Mezzetti D, Mariotti G, Calabro A.

Am J Med Genet. 1994 Jul 15;51(4):598-601. Review.

PMID:
7943046
10.

Wrinkly skin syndrome: phenotype and additional manifestations.

Casamassima AC, Wesson SK, Conlon CJ, Weiss FH.

Am J Med Genet. 1987 Aug;27(4):885-93. Review.

PMID:
3321993
11.

Pitt-Rogers-Danks syndrome: further delineation.

Lizcano-Gil LA, García-Cruz D, García-Cruz O, Sánchez-Corona J.

Am J Med Genet. 1995 Feb 13;55(4):420-2. Review.

PMID:
7762580
12.

Interstitial deletion 2p11.2-p12: report of a patient with mental retardation and review of the literature.

Tzschach A, Graul-Neumann LM, Konrat K, Richter R, Ebert G, Ullmann R, Neitzel H.

Am J Med Genet A. 2009 Feb;149A(2):242-5. doi: 10.1002/ajmg.a.32637. Review.

PMID:
19161151
13.

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
14.

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
15.

Coffin-Lowry syndrome: clinical and molecular features.

Hanauer A, Young ID.

J Med Genet. 2002 Oct;39(10):705-13. Review.

16.

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
17.

Three brothers with mental and physical retardation, hydrocephalus, microcephaly, internal malformations, speech disorder, and facial anomalies: Mutchinick syndrome.

Doerfler W, Wieczorek D, Gillessen-Kaesbach G, Albrecht B, Passarge E.

Am J Med Genet. 1997 Dec 12;73(2):210-6. Review.

PMID:
9409875
18.

Hypoparathyroidism-retardation-Dysmorphism (HRD) syndrome--a review.

Hershkovitz E, Parvari R, Diaz GA, Gorodischer R.

J Pediatr Endocrinol Metab. 2004 Dec;17(12):1583-90. Review.

PMID:
15645691
19.

The new syndrome of congenital hypoparathyroidism associated with dysmorphism, growth retardation, and developmental delay--a report of six patients.

Hershkovitz E, Shalitin S, Levy J, Leiberman E, Weinshtock A, Varsano I, Gorodischer R.

Isr J Med Sci. 1995 May;31(5):293-7. Review.

PMID:
7538982
20.

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

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