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HA Mintz-Hittner

Research Profile

Disorders

Chemicals & Drugs

Physiology

Anatomy

Phenomena

Polymorphism, Single-Stranded Conformational

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Publications

TOP 3
Maria-Luisa Guevara-Fujita; S Fahrner; Kinga Buraczynska; J Cook; D Wheaton; F Cortes; C Vicencio; M Pena; Gerald A Fishman; HA Mintz-Hittner; David Birch; D Hoffman; Alan J Mears; Ricardo Fujita; Anand Swaroop
Five novel RPGR mutations in families with X-linked retinitis pigmentosa.
Melanie M Sohocki; Stephen P Daiger; Sara J Bowne; J A Rodriquez; Hope Northrup; John R Heckenlively; David G Birch; HA Mintz-Hittner; Richard S Ruiz; R A Lewis; D A Saperstein; Lori S Sullivan
Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies.
Melanie M Sohocki; Lori S Sullivan; HA Mintz-Hittner; David Birch; John R Heckenlively; Carol L Freund-Taylor; Roderick R McInnes; Stephen P Daiger
A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene.

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All Publications

2001: Maria-Luisa Guevara-Fujita; S Fahrner; Kinga Buraczynska; J Cook; D Wheaton; F Cortes; C Vicencio; M Pena; Gerald A Fishman; HA Mintz-Hittner; David Birch; D Hoffman; Alan J Mears; Ricardo Fujita; Anand Swaroop
Five novel RPGR mutations in families with X-linked retinitis pigmentosa.
Human mutation 2001;17(2):151.
2001: Melanie M Sohocki; Stephen P Daiger; Sara J Bowne; J A Rodriquez; Hope Northrup; John R Heckenlively; David G Birch; HA Mintz-Hittner; Richard S Ruiz; R A Lewis; D A Saperstein; Lori S Sullivan
Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies.
Human mutation 2001;17(1):42-51.
1998: Melanie M Sohocki; Lori S Sullivan; HA Mintz-Hittner; David Birch; John R Heckenlively; Carol L Freund-Taylor; Roderick R McInnes; Stephen P Daiger
A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene.
American journal of human genetics 1998;63(5):1307-15.
1997: Melanie M Sohocki; Lori S Sullivan; HA Mintz-Hittner; K Small; R E Ferrell; Stephen P Daiger
Exclusion of atypical vitelliform macular dystrophy from 8q24.3 and from other known macular degenerative loci.
American journal of human genetics 1997;61(1):239-41.

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