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Results: 1 to 20 of 283

1.

Gillespie syndrome: additional findings and parental consanguinity.

Luquetti DV, Oliveira-Sobrinho RP, Gil-da-Silva-Lopes VL.

Ophthalmic Genet. 2007 Jun;28(2):89-93.

PMID:
17558851
[PubMed - indexed for MEDLINE]
2.

Gillespie syndrome: a report of two further cases.

Nelson J, Flaherty M, Grattan-Smith P.

Am J Med Genet. 1997 Aug 8;71(2):134-8.

PMID:
9217210
[PubMed - indexed for MEDLINE]
3.

Syndrome of partial aniridia, cerebellar ataxia, and mental retardation--Gillespie syndrome.

Nevin NC, Lim JH.

Am J Med Genet. 1990 Apr;35(4):468-9.

PMID:
2333873
[PubMed - indexed for MEDLINE]
4.

[Gillespie syndrome: an uncommon presentation of congenital aniridia].

Defreyn A, Maugery J, Chabrier S, Coullet J.

J Fr Ophtalmol. 2007 Jan;30(1):e1. French.

PMID:
17287663
[PubMed - indexed for MEDLINE]
Free Article
5.

Partial aniridia, cerebellar ataxia, and mental deficiency (Gillespie syndrome) in two brothers.

Wittig EO, Moreira CA, Freire-Maia N, Vianna-Morgante AM.

Am J Med Genet. 1988 Jul;30(3):703-8.

PMID:
3189393
[PubMed - indexed for MEDLINE]
6.

Absence of PAX6 gene mutations in Gillespie syndrome (partial aniridia, cerebellar ataxia, and mental retardation).

Glaser T, Ton CC, Mueller R, Petzl-Erler ML, Oliver C, Nevin NC, Housman DE, Maas RL.

Genomics. 1994 Jan 1;19(1):145-8.

PMID:
8188215
[PubMed - indexed for MEDLINE]
7.

Gillespie syndrome, partial aniridia, cerebellar ataxia and mental retardation in mother and daughter.

Verhulst S, Smet H, Ceulemans B, Geerts Y, Tassignon MJ.

Bull Soc Belge Ophtalmol. 1993;250:37-42. Review.

PMID:
7952360
[PubMed - indexed for MEDLINE]
8.

[Gillespie syndrome: 2 familial cases].

Boughamoura L, Yacoub M, Abroug M, Chabchoub I, Bouguezzi R, Charfeddine L, Amri F, Essoussi AS.

Arch Pediatr. 2006 Oct;13(10):1323-5. Epub 2006 Aug 17. French.

PMID:
16919425
[PubMed - indexed for MEDLINE]
9.

[Gillespie syndrome (incomplete aniridia, cerebellar ataxia and oligophrenia)].

François J, Lentini F.

Klin Monbl Augenheilkd. 1984 Apr;184(4):313-5. German.

PMID:
6727263
[PubMed - indexed for MEDLINE]
10.

Gillespie syndrome: two further cases.

Donald KA, Grotte R, Crutchley AC, Wilmshurst JM.

J Child Neurol. 2006 Apr;21(4):337-40.

PMID:
16900933
[PubMed - indexed for MEDLINE]
11.

[Present limitations of molecular biological diagnostics in Gillespie syndrome].

Kieslich M, Vanselow K, Wildhardt G, Gebhardt B, Weis R, Böhles H.

Klin Padiatr. 2001 Mar-Apr;213(2):47-9. German.

PMID:
11305191
[PubMed - indexed for MEDLINE]
13.

Cerebellar cognitive affective syndrome without global mental retardation in two relatives with Gillespie syndrome.

Mariën P, Brouns R, Engelborghs S, Wackenier P, Verhoeven J, Ceulemans B, De Deyn PP.

Cortex. 2008 Jan;44(1):54-67. doi: 10.1016/j.cortex.2005.12.001. Epub 2007 Nov 17.

PMID:
18387531
[PubMed - indexed for MEDLINE]
14.

Schilbach-Rott/blepharofacioskeletal syndrome in a Brazilian patient.

de Carvalho DR, Rossi NF, Schellini S, Moretti-Ferreira D, Richieri-Costa A.

Am J Med Genet A. 2008 Aug 15;146A(16):2134-7. doi: 10.1002/ajmg.a.32428.

PMID:
18627062
[PubMed - indexed for MEDLINE]
15.

Aniridia among children and teenagers in Sweden and Norway.

Edén U, Beijar C, Riise R, Tornqvist K.

Acta Ophthalmol. 2008 Nov;86(7):730-4. doi: 10.1111/j.1755-3768.2008.01310.x. Epub 2008 May 19. Erratum in: Acta Ophthalmol. 2009 Mar;87(2):242.

PMID:
18494744
[PubMed - indexed for MEDLINE]
16.

Possible linkage between the Marinesco-Sjøgren syndrome and hypergonadotropic hypogonadism.

Berg K, Skre H.

Cytogenet Cell Genet. 1976;16(1-5):271-4. No abstract available.

PMID:
975888
[PubMed - indexed for MEDLINE]
17.

[Pigmentary retinal degeneration, mental deterioration and ataxia: Stewart's Syndrome ].

Calatayud T, Campos-Castello J, Negrete O, Careaga J.

Arch Neurobiol (Madr). 1982 May-Jun;45(3):205-12. Spanish. No abstract available.

PMID:
7125810
[PubMed - indexed for MEDLINE]
18.

[Joubert's syndrome. Apropos of 5 cases].

Aicardi J, Castello-Branco ME, Roy C.

Arch Fr Pediatr. 1983 Oct;40(8):625-9. French.

PMID:
6651451
[PubMed - indexed for MEDLINE]
19.

Gillespie's syndrome (incomplete aniridia, cerebellar ataxia and oligophrenia).

François J, Lentini F, de Rouck F.

Ophthalmic Paediatr Genet. 1984 Apr;4(1):29-32.

PMID:
6544390
[PubMed - indexed for MEDLINE]
20.

Gillespie syndrome with impaired accommodation.

Agarwal PK, Awan MA, Strang N, Dutton GN.

J Pediatr Ophthalmol Strabismus. 2009 Sep-Oct;46(5):317. doi: 10.3928/01913913-20090903-12. No abstract available.

PMID:
19791732
[PubMed - indexed for MEDLINE]

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