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Results: 1 to 20 of 33

1.

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
[PubMed - indexed for MEDLINE]
2.

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
[PubMed - indexed for MEDLINE]
3.

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
[PubMed - indexed for MEDLINE]
4.

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
[PubMed - indexed for MEDLINE]
5.

[A case of severe mental retardation with blepharophimosis, ptosis, microphthalmia, microcephalus, hypogonadism and short stature--the difference from Ohdo blepharophimosis syndrome].

Hirayama T, Kobayashi T, Fujita T, Fujino O.

No To Hattatsu. 2004 May;36(3):253-7. Review. Japanese.

PMID:
15176598
[PubMed - indexed for MEDLINE]
6.

22q11.2 duplication syndrome: two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes.

Portnoï MF, Lebas F, Gruchy N, Ardalan A, Biran-Mucignat V, Malan V, Finkel L, Roger G, Ducrocq S, Gold F, Taillemite JL, Marlin S.

Am J Med Genet A. 2005 Aug 15;137(1):47-51. Review.

PMID:
16007629
[PubMed - indexed for MEDLINE]
7.

Interstitial deletion in 3q in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and microcephaly, mild mental retardation and growth delay: clinical report and review of the literature.

de Ru MH, Gille JJ, Nieuwint AW, Bijlsma JB, van der Blij JF, van Hagen JM.

Am J Med Genet A. 2005 Aug 15;137(1):81-7. Review.

PMID:
16015581
[PubMed - indexed for MEDLINE]
8.

[Clinical outcome of distinct Aicardi syndrome phenotypes].

Galdós M, Martínez R, Prats JM.

Arch Soc Esp Oftalmol. 2008 Jan;83(1):29-36. Review. Spanish.

PMID:
18188792
[PubMed - indexed for MEDLINE]
Free Article
9.

The genetics of autism.

Muhle R, Trentacoste SV, Rapin I.

Pediatrics. 2004 May;113(5):e472-86. Review.

PMID:
15121991
[PubMed - indexed for MEDLINE]
10.

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
[PubMed - indexed for MEDLINE]
11.

Roberts syndrome: study of 4 new Rgyptian cases with comparison of clinical and cytogenetic findings.

Temtamy SA, Ismail S, Helmy NA.

Genet Couns. 2006;17(1):1-13. Review.

PMID:
16719272
[PubMed - indexed for MEDLINE]
12.

Atypical findings in Kabuki syndrome: report of 8 patients in a series of 20 and review of the literature.

Geneviève D, Amiel J, Viot G, Le Merrer M, Sanlaville D, Urtizberea A, Gérard M, Munnich A, Cormier-Daire V, Lyonnet S.

Am J Med Genet A. 2004 Aug 15;129A(1):64-8. Review.

PMID:
15266618
[PubMed - indexed for MEDLINE]
13.

Heterogeneity versus variability in megalocornea-mental retardation (MMR) syndromes: report of new cases and delineation of 4 probable types.

Verloes A, Journel H, Elmer C, Misson JP, Le Merrer M, Kaplan J, Van Maldergem L, Deconinck H, Meire F.

Am J Med Genet. 1993 Apr 15;46(2):132-7. Review.

PMID:
8484397
[PubMed - indexed for MEDLINE]
14.

Clark-Baraitser syndrome: report of a new case and review of the literature.

Mendicino A, Sabbadini G, Pergola MS.

Clin Dysmorphol. 2005 Jul;14(3):133-5. Review.

PMID:
15930902
[PubMed - indexed for MEDLINE]
15.

Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome.

Descipio C, Schneider L, Young TL, Wasserman N, Yaeger D, Lu F, Wheeler PG, Williams MS, Bason L, Jukofsky L, Menon A, Geschwindt R, Chudley AE, Saraiva J, Schinzel AA, Guichet A, Dobyns WE, Toutain A, Spinner NB, Krantz ID.

Am J Med Genet A. 2005 Apr 1;134A(1):3-11. Review.

PMID:
15704124
[PubMed - indexed for MEDLINE]
16.

Neuroectodermal (CHIME) syndrome: an additional case with long term follow up of all reported cases.

Shashi V, Zunich J, Kelly TE, Fryburg JS.

J Med Genet. 1995 Jun;32(6):465-9. Review.

PMID:
7666399
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

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
[PubMed - indexed for MEDLINE]
18.

Subtelomeric 6p deletion: clinical, FISH, and array CGH characterization of two cases.

Le Caignec C, De Mas P, Vincent MC, Bocéno M, Bourrouillou G, Rival JM, David A.

Am J Med Genet A. 2005 Jan 15;132A(2):175-80. Review.

PMID:
15578619
[PubMed - indexed for MEDLINE]
19.

Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2).

Gropman AL, Duncan WC, Smith AC.

Pediatr Neurol. 2006 May;34(5):337-50. Review.

PMID:
16647992
[PubMed - indexed for MEDLINE]
20.

Clinical findings and cytogenetic analysis of small supernumerary ring chromosomes 7: report of two new cases.

Chantot-Bastaraud S, Muti C, Pipiras E, Routon MC, Roubergue A, Burglen L, Siffroi JP, Simon-Bouy B.

Ann Genet. 2004 Jul-Sep;47(3):241-9. Review.

PMID:
15337469
[PubMed - indexed for MEDLINE]
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