List of works - Daniel Kelberman

A novel heterozygous SOX2 mutation causing congenital bilateral anophthalmia, hypogonadotropic hypogonadism and growth hormone deficiency

scientific article published on 6 November 2013

ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies

scientific article

ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous

scientific article

Analysis of mouse models carrying the I26T and R160C substitutions in the transcriptional repressor HESX1 as models for septo-optic dysplasia and hypopituitarism

scientific article published on 6 November 2008

CYP1B1-related anterior segment developmental anomalies novel mutations for infantile glaucoma and von Hippel's ulcer revisited

scientific article published on 20 May 2011

Chromosome abnormalities and the genetics of congenital corneal opacification

scientific article

Digenic inheritance of mutations in FOXC1 and PITX2 : correlating transcription factor function and Axenfeld-Rieger disease severity.

scientific article published on 8 September 2011

Functional analysis of FOXE3 mutations causing dominant and recessive ocular anterior segment disease

scientific article

Genetic regulation of pituitary gland development in human and mouse

scientific article

Genetics of septo-optic dysplasia

scientific article

HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism

scientific article

Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function.

scientific article published on 2 January 2007

Hypopituitarism oddities: congenital causes

scientific article

Hypothalamic and pituitary development: novel insights into the aetiology

scientific article

Lack of the murine homeobox gene Hesx1 leads to a posterior transformation of the anterior forebrain

scientific article

Mutation of SALL2 causes recessive ocular coloboma in humans and mice

scientific article

Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans

scientific journal article

Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss

scientific article

Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part one

article

SOX2 haploinsufficiency is associated with slow progressing hypothalamo-pituitary tumours

scientific article

SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development

scientific article

List of works by Daniel Kelberman

A novel heterozygous SOX2 mutation causing congenital bilateral anophthalmia, hypogonadotropic hypogonadism and growth hormone deficiency

ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies

ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous

Analysis of mouse models carrying the I26T and R160C substitutions in the transcriptional repressor HESX1 as models for septo-optic dysplasia and hypopituitarism

CYP1B1-related anterior segment developmental anomalies novel mutations for infantile glaucoma and von Hippel's ulcer revisited

Chromosome abnormalities and the genetics of congenital corneal opacification

Digenic inheritance of mutations in FOXC1 and PITX2 : correlating transcription factor function and Axenfeld-Rieger disease severity.

Functional analysis of FOXE3 mutations causing dominant and recessive ocular anterior segment disease

Genetic regulation of pituitary gland development in human and mouse

Genetics of septo-optic dysplasia

HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism

Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function.

Hypopituitarism oddities: congenital causes

Hypothalamic and pituitary development: novel insights into the aetiology

Lack of the murine homeobox gene Hesx1 leads to a posterior transformation of the anterior forebrain

Mutation of SALL2 causes recessive ocular coloboma in humans and mice

Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans

Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss

Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part one

SOX2 haploinsufficiency is associated with slow progressing hypothalamo-pituitary tumours

SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development