Format
Sort by

Send to

Choose Destination

Links from PubMed

Items: 17

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.

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
4.

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
5.
6.
7.

Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder (3MC syndrome)?

Titomanlio L, Bennaceur S, Bremond-Gignac D, Baumann C, Dupuy O, Verloes A.

Am J Med Genet A. 2005 Sep 1;137A(3):332-5. Review.

PMID:
16096999
8.

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
9.

A new case of Myhre syndrome.

Whiteford ML, Doig WB, Raine PA, Hollman AS, Tolmie JL.

Clin Dysmorphol. 2001 Apr;10(2):135-40. Review.

PMID:
11310994
10.

van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures.

Guerra D, Sanchez O, Richieri-Costa A.

Am J Med Genet A. 2005 Aug 1;136A(4):377-80. Review.

PMID:
15971261
11.

Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation--clinical report and review.

Courtens W, Wuyts W, Poot M, Szuhai K, Wauters J, Reyniers E, Eleveld M, Diaz G, Nöthen MM, Parvari R.

Am J Med Genet A. 2006 Mar 15;140(6):611-7. Review.

PMID:
16470743
12.

Premature ovarian failure and forkhead transcription factor FOXL2: blepharophimosis-ptosis-epicanthus inversus syndrome and ovarian dysfunction.

De Baere E, Copelli S, Caburet S, Laissue P, Beysen D, Christin-Maitre S, Bouchard P, Veitia R, Fellous M.

Pediatr Endocrinol Rev. 2005 Jun;2(4):653-60. Review.

PMID:
16208278
13.
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.

Phenotypic variability of Cat-Eye syndrome.

Berends MJ, Tan-Sindhunata G, Leegte B, van Essen AJ.

Genet Couns. 2001;12(1):23-34. Review.

PMID:
11332976
16.

[Molecular diagnosis of CHARGE syndrom].

Pedersen AM, Skovby F.

Ugeskr Laeger. 2007 Jan 29;169(5):402-6. Review. Danish.

PMID:
17280632
17.

[Mental retardation-heart defects-blepharophimosis].

Sonoda T.

Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2):173-4. Review. Japanese. No abstract available.

PMID:
11528685
Items per page

Supplemental Content

Write to the Help Desk