List of works - Isabel Hanson

A novel PAX6 gene mutation in an Indian aniridia patient

scientific article published on 29 May 2003

A screen for proteins that interact with PAX6: C-terminal mutations disrupt interaction with HOMER3, DNCL1 and TRIM11

scientific article

A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX.

scientific article published on 3 September 2014

Absence ofSIX6Mutations in Microphthalmia, Anophthalmia, and Coloboma

scientific article published on 01 November 2004

Aniridia.

scientific article

Cognitive functioning in humans with mutations of the PAX6 gene.

scientific article published in April 2004

Colinearity of novel genes in the class II regions of the MHC in mouse and human.

scientific article

Combined SSCP/heteroduplex analysis in the screening for PAX6 mutations

scientific article published on 01 August 1997

EYA4, a novel vertebrate gene related to Drosophila eyes absent

scientific article

Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome

scientific article

Heterozygous mutations of OTX2 cause severe ocular malformations

scientific article

Human (DACH) and mouse (Dach) homologues of Drosophila dachshund map to chromosomes 13q22 and 14E3, respectively

scientific article

Identification and preliminary characterization of a protein motif related to the zinc finger

scientific article

Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia.

scientific article published on 4 April 2007

Mammalian and Drosophila dachshund genes are related to the Ski proto-oncogene and are expressed in eye and limb

scientific article

Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations.

scientific article published in February 1999

Molecular genetics of the Pax gene family.

scientific article published on December 1992

Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly

scientific article

New genes in the class II region of the human major histocompatibility complex

scientific article

Organization of the human HLA-class-II region

scientific article published on 01 January 1991

PAX6 and congenital eye malformations.

scientific article published on 15 October 2003

PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans.

scientific article

PAX6 mutations in aniridia

scientific article

PAX6 mutations: genotype-phenotype correlations

scientific article

Pitfalls in homozygosity mapping.

scientific article

Polymicrogyria and absence of pineal gland due to PAX6 mutation

scientific article (publication date: May 2003)

Prenatal diagnosis of aniridia.

scientific article published on June 2000

Sequences encoded in the class II region of the MHC related to the 'ABC' superfamily of transporters. 1990.

scientific article

The Imaging and Cognition Genetics Conference 2011, ICG 2011: A Meeting of Minds.

scientific article published on 24 May 2012

The human BDNF gene maps between FSHB and HVBS1 at the boundary of 11p13-p14.

scientific article published in August 1992

The incidence of PAX6 mutation in patients with simple aniridia: an evaluation of mutation detection in 12 cases.

scientific article

List of works by Isabel Hanson

A novel PAX6 gene mutation in an Indian aniridia patient

A screen for proteins that interact with PAX6: C-terminal mutations disrupt interaction with HOMER3, DNCL1 and TRIM11

A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX.

Absence ofSIX6Mutations in Microphthalmia, Anophthalmia, and Coloboma

Aniridia.

Cognitive functioning in humans with mutations of the PAX6 gene.

Colinearity of novel genes in the class II regions of the MHC in mouse and human.

Combined SSCP/heteroduplex analysis in the screening for PAX6 mutations

EYA4, a novel vertebrate gene related to Drosophila eyes absent

Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome

Heterozygous mutations of OTX2 cause severe ocular malformations

Human (DACH) and mouse (Dach) homologues of Drosophila dachshund map to chromosomes 13q22 and 14E3, respectively

Identification and preliminary characterization of a protein motif related to the zinc finger

Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia.

Mammalian and Drosophila dachshund genes are related to the Ski proto-oncogene and are expressed in eye and limb

Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations.

Molecular genetics of the Pax gene family.

Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly

New genes in the class II region of the human major histocompatibility complex

Organization of the human HLA-class-II region

PAX6 and congenital eye malformations.

PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans.

PAX6 mutations in aniridia

PAX6 mutations: genotype-phenotype correlations

Pitfalls in homozygosity mapping.

Polymicrogyria and absence of pineal gland due to PAX6 mutation

Prenatal diagnosis of aniridia.

Sequences encoded in the class II region of the MHC related to the 'ABC' superfamily of transporters. 1990.

The Imaging and Cognition Genetics Conference 2011, ICG 2011: A Meeting of Minds.

The human BDNF gene maps between FSHB and HVBS1 at the boundary of 11p13-p14.

The incidence of PAX6 mutation in patients with simple aniridia: an evaluation of mutation detection in 12 cases.