Latest papers

[The G990T mutation of the FRMD7 gene in a Chinese family with congenital idiopathic nystagmus].

[Study of gene mutation in a Chinese family with X-linked congenital nystagmus].

Extraocular proprioception and new treatments for infantile nystagmus syndrome.

Reduction of congenital nystagmus in a patient after smoking cannabis.

Re: "Effect of metformin and rosiglitazone in a prepubertal boy with Alström syndrome", Sinha SK et al., JPEM 2007; 20: 1045-1052.

Eye muscle surgery for nystagmus. RE: Outcome study of two standard and graduated augmented modified kestenbaum surgery protocols for abnormal head postures in infantile nystagmus. Binocul Vis Strabismus Q 2007; 22:235-41.

Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene.

Five novel mutations of the FRMD7 gene in Chinese families with X-linked infantile nystagmus.

Identification of a novel GPR143 deletion in a Chinese family with X-linked congenital nystagmus.

A novel mutation in FRMD7 causing X-linked idiopathic congenital nystagmus in a large family.

Nystagmus in Infancy and Childhood

Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism.

[Rehabilitation on functional amblyopia in Morning Glory Syndrome].

A review of the molecular genetics of congenital Idiopathic Nystagmus (CIN).

Sensory and motor nystagmus: erroneous and misleading terminology based on misinterpretation of David Cogan's observations.

Novel human pathological mutations. Gene symbol: FRMD7. Disease: congenital motor nystagmus.

Novel human pathological mutations. Gene symbol: FRMD7. Disease: congenital motor nystagmus.

Pallister-Killian syndrome: tetrasomy of 12pter-->12p11.22 in a boy with an analphoid, inverted duplicated marker chromosome.

Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration.

Episodic vertical oscillopsia with progressive gait ataxia: clinical description of a new episodic syndrome and evidence of linkage to chromosome 13q.