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Items: 1 to 20 of 46

1.

Cohen syndrome in the Ohio Amish.

Falk MJ, Feiler HS, Neilson DE, Maxwell K, Lee JV, Segall SK, Robin NH, Wilhelmsen KC, Träskelin AL, Kolehmainen J, Lehesjoki AE, Wiznitzer M, Warman ML.

Am J Med Genet A. 2004 Jul 1;128A(1):23-8.

PMID:
15211651
2.

[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
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.

Tapetoretinal degeneration in brothers with apparent Cohen syndrome: nosology with Mirhosseini-Holmes-Walton syndrome.

Steinlein O, Tariverdian G, Boll HU, Vogel F.

Am J Med Genet. 1991 Nov 1;41(2):196-200. Review.

PMID:
1785634
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.

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
8.

Genealogy, natural history, and phenotype of Alström syndrome in a large Acadian kindred and three additional families.

Marshall JD, Ludman MD, Shea SE, Salisbury SR, Willi SM, LaRoche RG, Nishina PM.

Am J Med Genet. 1997 Dec 12;73(2):150-61. Review.

PMID:
9409865
9.

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
10.

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
11.

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
12.

Goldberg-Shprintzen syndrome: report of a new family and review of the literature.

Fryer AE.

Clin Dysmorphol. 1998 Apr;7(2):97-101. Review.

PMID:
9571278
13.

Cleft palate-lateral synechiae syndrome: report on three new patients with additional findings and evidence for variability and heterogeneity.

Nakata NM, Guion-Almeida ML, Richieri-Costa A.

Am J Med Genet. 1993 Sep 1;47(3):330-2. Review.

PMID:
8135276
15.

Maternal uniparental disomy chromosome 14: case report and literature review.

Falk MJ, Curtis CA, Bass NE, Zinn AB, Schwartz S.

Pediatr Neurol. 2005 Feb;32(2):116-20. Review.

PMID:
15664772
16.

Clinical and hematologic aspects of the X-linked alpha-thalassemia/mental retardation syndrome (ATR-X).

Gibbons RJ, Brueton L, Buckle VJ, Burn J, Clayton-Smith J, Davison BC, Gardner RJ, Homfray T, Kearney L, Kingston HM, et al.

Am J Med Genet. 1995 Jan 30;55(3):288-99. Review.

PMID:
7726225
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.

[Cohen syndrome].

Kayashima T, Niikawa N.

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

PMID:
11596442
19.

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
20.

Premature aging and immunodeficiency: Mulvihill-Smith syndrome?

Ohashi H, Tsukahara M, Murano I, Fujita K, Matsuura S, Fukushima Y, Kajii T.

Am J Med Genet. 1993 Mar 1;45(5):597-600. Review.

PMID:
8456831

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