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Items: 1 to 20 of 137

1.
2.

Congenital ptosis and blepharophimosis in a mentally retarded girl: a new case of Ohdo syndrome?

Rasmussen M, Strømme P.

Clin Dysmorphol. 1998 Jan;7(1):61-3. Review.

PMID:
9546834
3.

Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive.

Verloes A, Bremond-Gignac D, Isidor B, David A, Baumann C, Leroy MA, Stevens R, Gillerot Y, Héron D, Héron B, Benzacken B, Lacombe D, Brunner H, Bitoun P.

Am J Med Genet A. 2006 Jun 15;140(12):1285-96.

PMID:
16700052
4.

Vertical transmission of the Ohdo blepharophimosis syndrome.

Mhanni AA, Dawson AJ, Chudley AE.

Am J Med Genet. 1998 May 1;77(2):144-8. Review.

PMID:
9605288
5.

Two additional cases of the Ohdo blepharophimosis syndrome.

Maat-Kievit A, Brunner HG, Maaswinkel-Mooij P.

Am J Med Genet. 1993 Nov 1;47(6):901-6. Review.

PMID:
8279489
6.
7.

Further evidence for the location of the blepharophimosis syndrome (BPES) at 3q22.3-q23.

Fryns JP, Strømme P, van den Berghe H.

Clin Genet. 1993 Sep;44(3):149-51.

PMID:
8275574
8.
9.

Two further cases of Ohdo syndrome delineate the phenotypic variability of the condition.

White SM, Adès LC, Amor D, Liebelt J, Bankier A, Baker E, Wilson M, Savarirayan R.

Clin Dysmorphol. 2003 Apr;12(2):109-13.

PMID:
12868473
10.

A case with blepharophimosis resembling Ohdo syndrome.

Maat-Kievit JA, Milla PJ, Collins JE, Baraitser M, Winter RM.

Clin Dysmorphol. 1994 Apr;3(2):125-7.

PMID:
8055131
11.
12.

Ohdo-like blepharophimosis syndrome with distinctive facies, neonatal hypotonia, mental retardation and hypoplastic teeth.

Clayton-Smith J, Krajewska-Walasek M, Fryer A, Donnai D.

Clin Dysmorphol. 1994 Apr;3(2):115-20.

PMID:
8055130
13.

A boy with mental retardation, blepharophimosis and hypothyroidism: a diagnostic dilemma between Young-Simpson and Ohdo syndrome.

Marques-de-faria AP, Maciel-Guerra AT, Júnior GG, Baptista MT.

Clin Dysmorphol. 2000 Jul;9(3):199-204.

PMID:
10955481
14.

Blepharophimosis, eczema, and growth and developmental delay in a young adult: late features of Dubowitz syndrome?

Lyonnet S, Schwartz G, Gatin G, de Prost Y, Munnich A, Le Merrer M.

J Med Genet. 1992 Jan;29(1):68-9.

15.
16.

Craniosynostosis and lid anomalies: report of a girl with Michels syndrome.

Cunniff C, Jones KL.

Am J Med Genet. 1990 Sep;37(1):28-30.

PMID:
2240039
17.

Genome rearrangements in patients with blepharophimosis, mental retardation and hypothyroidism, so-called Young-Simpson syndrome.

Brancati F, Bernardini L, Cavalcanti DP, Romano C, Novelli A, Dallapiccola B.

Clin Genet. 2009 Aug;76(2):210-3. doi: 10.1111/j.1399-0004.2009.01235.x. Epub 2009 Jul 29. No abstract available.

PMID:
19659891
18.

The Ohdo blepharophimosis syndrome: a third case.

Biesecker LG.

J Med Genet. 1991 Feb;28(2):131-4.

19.

Blepharophimosis: a causally heterogeneous malformation frequently associated with developmental disabilities.

Cunniff C, Curtis M, Hassed SJ, Hoyme HE.

Am J Med Genet. 1998 Jan 6;75(1):52-4.

PMID:
9450857
20.

Skeletal manifestations in Ohdo syndrome: a case with bilateral patella dislocations.

Day R, Fryer A.

Clin Dysmorphol. 2004 Jan;13(1):17-9.

PMID:
15127758

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